AiPD: Autoinhibited Protein Database

O60264

Gene name	SMARCA5 (SNF2H, WCRF135)
Protein name	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5
Names	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5, Sucrose nonfermenting protein 2 homolog, hSNF2H
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8467
EC number
Protein Class	CHROMODOMAIN-HELICASE-DNA-BINDING PROTEIN 3-RELATED-RELATED (PTHR45623)

Descriptions

SMARCA5 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5, SNF2h) is a helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and a catalytic subunit of ISWI chromatin-remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair.
A highly conserved acidic patch formed by histones H2A and H2B of the nucleosome relieves the autoinhibition imposed by the AutoN and the NegC regions of the SMARCA5. In the autoinhibited state, AutoN and NegC hold the remodeler in an inactive state. The active state is promoted by AutoN and NegC binding near the acidic patch and by H4 tail binding to the ATPase domain. Thus, the acidic patch helps promote the translocation competent state of SMARCA5 by providing a binding site for NegC and AutoN.

Autoinhibitory domains (AIDs)

Target domain	183-638 (Helicase domain)
Relief mechanism	Partner binding
Assay	Mutagenesis experiment

AID

137-148 (AutoN motif)

Target domain

183-638 (Helicase domain)

Relief mechanism

Partner binding (Binding of AutoN to H2A acidic patch of nucleosome)

Assay

Mutagenesis experiment

Target domain	183-638 (Helicase domain)
Relief mechanism	Partner binding
Assay	Mutagenesis experiment

AID

640-701 (NegC region)

Target domain

183-638 (Helicase domain)

Relief mechanism

Partner binding (Binding of NegC to H2A acidic patch of nucleosome)

Assay

Mutagenesis experiment

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100

Gamarra N et al. (2018) "The nucleosomal acidic patch relieves auto-inhibition by the ISWI remodeler SNF2h", eLife, 7,

Autoinhibited structure

Activated structure

2 structures for O60264

Entry ID	Method	Resolution	Chain	Position	Source
6NE3	EM	390 A	W	166-634	PDB
AF-O60264-F1	Predicted				AlphaFoldDB

392 variants for O60264

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs763530655 CA3090815	2	S>L		No	ClinGen ExAC TOPMed gnomAD
CA106861309 rs895582831	3	S>F		No	ClinGen TOPMed gnomAD
CA358323791 rs1318633746	4	A>V		No	ClinGen gnomAD
rs926979803 CA106861314	5	A>S		No	ClinGen gnomAD
CA358323812 rs1213203256	6	E>G		No	ClinGen TOPMed gnomAD
CA358323808 rs1346021469	6	E>K		No	ClinGen gnomAD
rs1482965442 CA358323831	8	P>A		No	ClinGen TOPMed gnomAD
CA106861318 rs550742639	8	P>L		No	ClinGen 1000Genomes
rs1175823902 CA358323840	9	P>A		No	ClinGen TOPMed gnomAD
rs1253330066 CA358323844	9	P>L		No	ClinGen gnomAD
CA358323841 rs1175823902	9	P>S		No	ClinGen TOPMed gnomAD
rs1420160625 CA358323850	10	P>S		No	ClinGen gnomAD
CA106861319 rs866864993	11	P>Q		No	ClinGen gnomAD
CA3090817 rs751684290	11	P>S		No	ClinGen ExAC gnomAD
rs767504303 CA3090819	12	P>L		No	ClinGen ExAC gnomAD
CA3090818 rs755161701	12	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1578786690 CA358323881	13	P>L		No	ClinGen Ensembl
rs752894762 CA3090820	13	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3090821 rs756319010	14	E>K		No	ClinGen ExAC gnomAD
CA3090822 rs568763709	15	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3090823 rs745715907	16	A>G		No	ClinGen ExAC gnomAD
rs758303815 CA3090824	17	P>L		No	ClinGen ExAC gnomAD
CA3090825 rs780037066	18	S>C		No	ClinGen ExAC gnomAD
rs746508886 CA3090826	19	K>E		No	ClinGen ExAC TOPMed gnomAD
CA3090827 CA358323933 rs768156171	19	K>N		No	ClinGen ExAC TOPMed gnomAD
CA106861335 rs904221635	20	P>H		No	ClinGen TOPMed gnomAD
CA358323941 rs904221635	20	P>L		No	ClinGen TOPMed gnomAD
CA3090828 rs776010437	21	A>E		No	ClinGen ExAC gnomAD
rs865837289 CA358323943	21	A>P		No	ClinGen gnomAD
CA106861341 rs865837289	21	A>T		No	ClinGen gnomAD
rs999860410 CA358323962	22	A>G		No	ClinGen TOPMed gnomAD
rs1452094027 CA358323956	22	A>S		No	ClinGen gnomAD
rs999860410 CA106861349	22	A>V		No	ClinGen TOPMed gnomAD
CA3090830 rs769379037	23	S>L		No	ClinGen ExAC TOPMed gnomAD
CA106861353 rs769379037	23	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1168087556 CA358323987	24	I>M		No	ClinGen gnomAD
rs773679966 CA3090831	25	A>P		No	ClinGen ExAC gnomAD
rs1325206930 CA358324025	27	G>S		No	ClinGen gnomAD
rs1265587137 CA358324047	28	G>W		No	ClinGen TOPMed
CA106861359 rs966554565	29	S>G		No	ClinGen gnomAD
rs1364758612 CA358324109	31	S>N		No	ClinGen gnomAD
CA358324148 rs759962281	33	N>I		No	ClinGen ExAC TOPMed gnomAD
rs759962281 CA3090835	33	N>S		No	ClinGen ExAC TOPMed gnomAD
rs767591548 CA3090836	34	K>R		No	ClinGen ExAC gnomAD
CA106861374 rs997581034	35	G>S		No	ClinGen TOPMed gnomAD
rs752744842 CA3090837	35	G>V		No	ClinGen ExAC gnomAD
CA358324189 rs1241458974	36	G>C		No	ClinGen TOPMed
rs750218985 CA3090840	36	G>V		No	ClinGen ExAC gnomAD
rs758248170 CA3090841	37	P>S		No	ClinGen ExAC TOPMed gnomAD
rs779838589 CA3090842	38	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1421187468 CA358324238	40	V>I		No	ClinGen gnomAD
rs1163902970 CA358324258	42	A>P		No	ClinGen gnomAD
rs1462902570 CA358324297	44	A>E		No	ClinGen gnomAD
rs1468817202 CA358324308	45	V>F		No	ClinGen TOPMed
CA106861397 rs986588765	46	A>G		No	ClinGen TOPMed
CA358324347 rs1428721599	47	S>F		No	ClinGen gnomAD
rs748958303 CA3090849	49	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3090851 rs774884127	50	S>I		No	ClinGen ExAC TOPMed gnomAD
rs772507264 CA358324394	51	A>D		No	ClinGen ExAC TOPMed gnomAD
rs377525719 CA3090852	51	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs772507264 CA3090853	51	A>V		No	ClinGen ExAC TOPMed gnomAD
CA106861437 rs867789111	53	P>H		No	ClinGen Ensembl
CA3090854 rs775611324	53	P>S		No	ClinGen ExAC gnomAD
rs760736204 CA358324423	54	A>S		No	ClinGen ExAC TOPMed gnomAD
rs760736204 CA3090855	54	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3090856 rs200653868	54	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358324454 rs1196323464	55	D>E		No	ClinGen gnomAD
CA358324435 rs1243527828	55	D>Y		No	ClinGen gnomAD
rs754002060 CA3090857	56	A>D		No	ClinGen ExAC gnomAD
CA106861446 rs929530863	56	A>S		No	ClinGen TOPMed gnomAD
rs373857554 CA358324921	60	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1206455896 CA358324922 CA358324924	61	I>L		No	ClinGen gnomAD
CA358324923 rs1206455896	61	I>V		No	ClinGen gnomAD
CA358324940 rs1233383579	63	D>G		No	ClinGen TOPMed gnomAD
CA358324948 rs751361829	64	D>A		No	ClinGen ExAC gnomAD
CA3090878 rs751361829	64	D>G		No	ClinGen ExAC gnomAD
CA3090879 rs754593322	65	A>V		No	ClinGen ExAC TOPMed gnomAD
CA106862699 rs944364500	67	P>L		No	ClinGen TOPMed gnomAD
CA358324969 rs1417725633 CA358324968	68	G>R		No	ClinGen gnomAD
CA358324975 COSM1051599 rs1411993784	69	K>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1429485916 CA358324978	69	K>R		No	ClinGen TOPMed
CA3090882 rs756150460	72	E>Q		No	ClinGen ExAC gnomAD
rs1185307416 CA358325007	73	I>L		No	ClinGen TOPMed
rs1485561006 CA358325028	76	P>T		No	ClinGen TOPMed
rs763648422 CA3090883	78	P>H		No	ClinGen ExAC TOPMed gnomAD
rs202042006 CA106862705	79	T>A		No	ClinGen 1000Genomes gnomAD
CA358325049 rs1233448620	79	T>N		No	ClinGen gnomAD
CA358325058 rs1216095143	80	Y>*		No	ClinGen TOPMed gnomAD
CA358325054 rs1337284532	80	Y>N		No	ClinGen gnomAD
CA358325060 rs1258674415	81	E>K		No	ClinGen gnomAD
CA358325068 rs1211925844	82	E>K		No	ClinGen gnomAD
rs1578789444 CA358325085	84	M>V		No	ClinGen Ensembl
CA358325409 rs1382351608	87	D>Y		No	ClinGen gnomAD
CA358325417 rs758104763	88	R>L		No	ClinGen ExAC gnomAD
CA3090912 COSM1165422 rs758104763	88	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3090911 rs749981812	88	R>W		No	ClinGen ExAC gnomAD
rs148302705 CA3090913	89	A>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	90	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA106863883 rs112834245	92	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11100790 CA106863892	94	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1168036593 CA358325476	97	K>E		No	ClinGen TOPMed
TCGA novel	98	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	104	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763829215 CA3090917	107	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs769692137 CA3090918	113	T>S		No	ClinGen ExAC gnomAD
CA358325596 rs1203782330	114	P>Q		No	ClinGen TOPMed gnomAD
CA358325595 rs1578791865	114	P>S		No	ClinGen Ensembl
CA3090919 rs773372437	115	T>A		No	ClinGen ExAC TOPMed gnomAD
CA358325603 rs1484928787	115	T>I		No	ClinGen gnomAD
TCGA novel	115	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3090921 rs371430907	119	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3090922 rs775114490	120	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA358325631 rs1202827831	120	M>V		No	ClinGen TOPMed
CA3090924 rs764115299	124	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1264166091 CA358325670	126	R>*		No	ClinGen TOPMed
rs1440990938 CA358325671	126	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3090927 rs761846990	127	I>M		No	ClinGen ExAC gnomAD
rs1213273762 CA358325679	127	I>R		No	ClinGen gnomAD
TCGA novel	130	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	134	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764617010 CA3090928	135	L>*		No	ClinGen ExAC TOPMed gnomAD
CA358325742 rs11541117	136	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358325743 rs11541117	136	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3090932 rs751905457	138	V>A		No	ClinGen ExAC TOPMed gnomAD
rs373191198 CA106863931	138	V>I		No	ClinGen ESP TOPMed gnomAD
COSM1226769 rs751142387 CA3090949	144	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs759214495 CA3090950 COSM3392716	144	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3090951 rs767821272	145	R>I		No	ClinGen ExAC gnomAD
CA106864768 rs113803949	146	T>A		No	ClinGen Ensembl
TCGA novel	151	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	157	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3090955 rs375642827	163	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	166	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	171	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs139966158	173	S>=	Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3090972 rs761157214	174	Y>C		No	ClinGen ExAC gnomAD
rs1474761534 CA358326815	175	V>A		No	ClinGen TOPMed gnomAD
rs1229571085 CA358326881	179	K>E		No	ClinGen gnomAD
CA358326905 rs1289914448	180	L>Q		No	ClinGen gnomAD
CA358327124 rs1338504487	194	L>S		No	ClinGen TOPMed
CA358327224 rs1488520265	200	N>S		No	ClinGen gnomAD
CA358327243 rs1303961293	202	I>V		No	ClinGen TOPMed
CA106865303 rs945618863	217	S>A		No	ClinGen gnomAD
CA3090992 rs762390754	217	S>C		No	ClinGen ExAC gnomAD
rs1443975572 CA358327856	226	R>G		No	ClinGen TOPMed gnomAD
CA358327916 rs1332734524	229	P>T		No	ClinGen gnomAD
rs766568120 CA3090996	233	M>V		No	ClinGen ExAC gnomAD
CA3090997 rs751762804	242	H>Y		No	ClinGen ExAC gnomAD
rs202032941 CA106865324	243	N>S		No	ClinGen gnomAD
CA358328161 rs1272254887	245	M>T		No	ClinGen gnomAD
TCGA novel	248	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358328339 rs1560814181	254	T>A		No	ClinGen Ensembl
rs1356584427 CA358328423	259	C>G		No	ClinGen TOPMed gnomAD
rs755173346 CA3090998	265	E>G		No	ClinGen ExAC gnomAD
TCGA novel	267	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs78019012 CA106865834	273	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3091020 rs756987133	274	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	277	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	279	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358329196 rs1208741601	279	E>K		No	ClinGen TOPMed
TCGA novel	284	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358329422 rs1401590635	290	L>I		No	ClinGen gnomAD
rs1313931266 CA358329503	296	V>M		No	ClinGen TOPMed
TCGA novel	300	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1377558148 CA358329587	302	W>C		No	ClinGen TOPMed
CA788367414 rs1314982477	304	Y>*		No	ClinGen TOPMed
CA358329641 rs1391013360	308	D>N		No	ClinGen TOPMed
rs1357325313 CA358329655	309	E>*		No	ClinGen gnomAD
rs1560814874 CA358329712 RCV000736232	314	K>Q		No	ClinGen ClinVar Ensembl dbSNP
CA3091044 rs751069474	322	E>G		No	ClinGen ExAC gnomAD
rs1036450902 CA106866084	323	I>M		No	ClinGen TOPMed
TCGA novel	326	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754391388 CA3091045	331	N>S		No	ClinGen ExAC
CA358330530 rs1376923682	332	R>K		No	ClinGen gnomAD
CA358330564 rs1402787736	334	L>F		No	ClinGen gnomAD
CA3091050 rs749736992	360	N>D		No	ClinGen ExAC gnomAD
TCGA novel	363	D>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	365	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3091067 rs370390401	370	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3091068 rs752292742	372	N>S		No	ClinGen ExAC gnomAD
CA358331272 rs1192719730	382	E>K		No	ClinGen gnomAD
rs867222589 CA106866665	385	H>Y		No	ClinGen Ensembl
rs1425617631 CA358331926	389	R>C		No	ClinGen gnomAD
TCGA novel	391	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	395	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750842047 CA3091091	398	A>T		No	ClinGen ExAC gnomAD
rs758903969 CA3091092	399	D>E		No	ClinGen ExAC gnomAD
rs780599494 CA3091093	405	P>L		No	ClinGen ExAC gnomAD
rs1036973312 CA106868018	406	P>L		No	ClinGen Ensembl
CA3091094 rs747530633	406	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3091095 rs569394609	410	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370050586 CA3091097	414	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA358332299 rs1287807324	423	W>L		No	ClinGen gnomAD
rs1223176716 CA358332415	427	I>M		No	ClinGen TOPMed
rs768754123 CA3091123	437	S>L		No	ClinGen ExAC gnomAD
CA106868494 rs895789960	440	K>R		No	ClinGen TOPMed
rs761445300 CA3091125	441	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	443	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	443	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1578799611 CA358332614	444	M>L		No	ClinGen Ensembl
CA358332848 rs1272802796	462	L>V		No	ClinGen gnomAD
TCGA novel	468	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA106868501 rs141261120	473	T>S		No	ClinGen ESP
CA106868505 rs751958306	476	M>K		No	ClinGen ExAC TOPMed gnomAD
CA3091129 rs766684945	476	M>L		No	ClinGen ExAC TOPMed gnomAD
CA3091130 rs751958306	476	M>T		No	ClinGen ExAC TOPMed gnomAD
CA358333042 rs766684945	476	M>V		No	ClinGen ExAC TOPMed gnomAD
rs755469240 CA3091131	480	T>N		No	ClinGen ExAC gnomAD
rs1343747467 CA358333187	484	K>R		No	ClinGen TOPMed
CA358333214 rs1430653841	485	M>I		No	ClinGen TOPMed
CA358333208 rs1302742256	485	M>T		No	ClinGen TOPMed
rs372160827 CA3091133	486	V>G		No	ClinGen ESP ExAC gnomAD
rs1478552172 CA358333250	488	L>V		No	ClinGen gnomAD
rs749472573 CA3091136	494	K>E		No	ClinGen ExAC gnomAD
rs749472573 CA3091137	494	K>Q		No	ClinGen ExAC gnomAD
rs1168134550 CA358333387	497	E>K		No	ClinGen TOPMed
CA106868526 rs895000690	498	Q>K		No	ClinGen TOPMed
CA3091151 rs756600968	499	G>D		No	ClinGen ExAC gnomAD
CA3091152 rs764211595	502	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	503	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358334740 rs1401836826	506	S>G		No	ClinGen gnomAD
CA358334865 rs1339995370	511	V>L		No	ClinGen gnomAD
TCGA novel	521	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3091155 rs779337107	523	N>Y		No	ClinGen ExAC gnomAD
rs746108406 CA3091156	524	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs754738040 CA3091157	532	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA3091158 rs780882749	537	E>G		No	ClinGen ExAC TOPMed gnomAD
CA106869221 rs1053724744	539	Q>P		No	ClinGen Ensembl
rs761926840 CA3091175	540	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs140864882 CA106869271	543	N>H		No	ClinGen ESP
rs765414474 CA3091176	543	N>S		No	ClinGen ExAC gnomAD
rs150169073 CA3091178	546	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3091179 rs781022174	547	E>G		No	ClinGen ExAC TOPMed gnomAD
CA106869281 rs1008228434	548	P>T		No	ClinGen Ensembl
CA358335781 rs1182194082	550	S>G		No	ClinGen gnomAD
CA358335786 rs1377011194	550	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200624886 CA3091180	551	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756062246 CA3091181	554	V>I		No	ClinGen ExAC gnomAD
COSM1427321 rs778415632 CA3091185	560	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs866583525 CA106869311	560	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	561	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3091188 rs199980668	569	A>G		No	ClinGen 1000Genomes ExAC
CA3091193 rs765362128	587	L>V		No	ClinGen ExAC gnomAD
rs570057557 CA106869324	590	M>V		No	ClinGen gnomAD
TCGA novel	592	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	594	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140508812 CA3091214	600	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1453790438 CA358336992	606	R>C		No	ClinGen TOPMed
CA106869963 rs868118261	606	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA358336991 rs1453790438	606	R>S		No	ClinGen TOPMed
rs145660901 CA106869965	610	D>E		No	ClinGen ESP gnomAD
CA3091216 rs763852717	613	V>I		No	ClinGen ExAC gnomAD
TCGA novel	618	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA106869975 rs138302916	620	R>H		No	ClinGen ESP TOPMed
rs757181579 CA3091218	630	I>V		No	ClinGen ExAC gnomAD
TCGA novel	632	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358337832 rs1375945961	638	V>M		No	ClinGen gnomAD
rs1560820730 CA358337980	644	K>R		No	ClinGen Ensembl
TCGA novel	658	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA106871004 rs1036859981	665	K>R		No	ClinGen TOPMed
CA3091238 rs776397514	673	D>G		No	ClinGen ExAC gnomAD
CA358338598 rs1462708093	674	I>T		No	ClinGen gnomAD
rs1441459311 CA358338622	675	D>N		No	ClinGen gnomAD
CA358338624 rs1441459311	675	D>Y		No	ClinGen gnomAD
rs771507370 CA3091252	690	E>Q		No	ClinGen ExAC gnomAD
CA106871080 rs896091740	694	K>T		No	ClinGen gnomAD
rs1250274907 CA358339089	695	M>V		No	ClinGen TOPMed
rs950245563 CA106871102	697	E>G		No	ClinGen TOPMed
TCGA novel	698	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358339142 rs1432048812	698	S>I		No	ClinGen gnomAD
rs746005329 CA3091254	699	S>T		No	ClinGen ExAC gnomAD
rs62337403 CA106871115	700	L>F		No	ClinGen Ensembl
CA3091257 rs760919439	705	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1354936798 CA358339259	707	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	711	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	718	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762774070 CA3091260	721	E>G		No	ClinGen ExAC gnomAD
CA358339585 rs1457567191	725	I>M		No	ClinGen TOPMed
rs1377236237 CA358339689	736	R>*		No	ClinGen gnomAD
rs373394057 CA106871343	741	N>S		No	ClinGen ESP
rs750888422 CA3091294	744	V>I		No	ClinGen ExAC gnomAD
rs780083407 CA3091296	749	R>T		No	ClinGen ExAC
TCGA novel	756	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358339945 rs1399973117	761	K>R		No	ClinGen TOPMed
TCGA novel	764	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	764	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358341037 rs781165221	770	N>I		No	ClinGen ExAC TOPMed gnomAD
rs781165221 CA3091317	770	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3091318 rs748374408	774	F>I		No	ClinGen ExAC gnomAD
rs376869219 CA3091319	780	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs778840147 CA3091320	780	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA358341724 rs1349639804	794	K>I		No	ClinGen Ensembl
CA358341728 rs1434996654	794	K>N		No	ClinGen Ensembl
CA358341731 rs1328510103	795	T>S		No	ClinGen TOPMed
rs745725913 CA358341753	796	I>F		No	ClinGen ExAC TOPMed gnomAD
rs745725913 CA3091321	796	I>V		No	ClinGen ExAC TOPMed gnomAD
CA358341832 rs1307812161	798	Y>S		No	ClinGen Ensembl
rs1350117709 CA358342004	800	V>I		No	ClinGen TOPMed
TCGA novel	802	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749535799 CA3091338	802	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs779744282 CA3091340	806	L>V		No	ClinGen ExAC TOPMed gnomAD
rs768522831 CA3091342	809	A>T		No	ClinGen ExAC gnomAD
rs1380892697 CA358342196	810	A>S		No	ClinGen TOPMed
rs1224679790 CA358342222	811	Q>R		No	ClinGen gnomAD
rs1292380011 CA358342251	812	A>S		No	ClinGen gnomAD
CA106871765 rs200569008	814	K>E		No	ClinGen Ensembl
TCGA novel	815	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747720523 CA3091345	816	E>V		No	ClinGen ExAC gnomAD
rs1264124171 CA358342497	820	I>T		No	ClinGen gnomAD
CA106871782 rs1034434626	822	E>A		No	ClinGen Ensembl
CA358342604 rs1346863035	824	E>*		No	ClinGen TOPMed
TCGA novel	830	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769296046 CA3091346	830	E>K		No	ClinGen ExAC gnomAD
rs147351832 CA3091347	836	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA3091358 rs779874652	844	N>S		No	ClinGen ExAC TOPMed gnomAD
rs751368139 CA3091359	846	N>H		No	ClinGen ExAC gnomAD
TCGA novel	848	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754935303 CA3091360	848	R>K		No	ClinGen ExAC gnomAD
rs1346492952 CA358343674	854	I>V		No	ClinGen gnomAD
rs748086851 CA3091362	860	W>C		No	ClinGen ExAC gnomAD
rs371185183 CA3091363	862	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3091364 rs777309076	865	I>M		No	ClinGen ExAC gnomAD
CA3091365 rs748920760	866	E>D		No	ClinGen ExAC gnomAD
CA106872032 rs373549412	868	I>V		No	ClinGen ESP TOPMed
TCGA novel	870	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770550176 CA3091366	876	T>I		No	ClinGen ExAC gnomAD
CA358344109 rs1317621520	878	E>D		No	ClinGen gnomAD
rs1235757287 CA358344116	879	E>A		No	ClinGen gnomAD
CA106872040 rs199752848	881	I>V		No	ClinGen TOPMed gnomAD
CA3091381 rs200620340	892	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3091383 rs777256031	897	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1306149432 CA358344434	899	K>R		No	ClinGen TOPMed gnomAD
rs1181658339 CA358344451	901	M>V		No	ClinGen TOPMed
TCGA novel	905	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3091384 rs748865649	909	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1266229653 CA358344607	915	I>K		No	ClinGen gnomAD
CA3091386 rs778373183	915	I>V		No	ClinGen ExAC gnomAD
CA358344638 rs1481121279	918	K>R		No	ClinGen gnomAD
CA106872276 rs1044307374	922	D>Y		No	ClinGen Ensembl
rs1244384514 CA358344684	923	T>S		No	ClinGen TOPMed
CA358344830 rs1161617102	925	I>F		No	ClinGen gnomAD
CA3091407 rs756675906	926	G>R		No	ClinGen ExAC gnomAD
CA358344940 rs1317653396	929	K>R		No	ClinGen gnomAD
CA106872526 rs150903315	931	P>A		No	ClinGen ESP gnomAD
rs1275302109 CA358345134	937	I>V		No	ClinGen gnomAD
rs1433231971 CA358345279	942	N>K		No	ClinGen gnomAD
CA358345316 rs1298564685	943	K>R		No	ClinGen gnomAD
rs745480391 CA3091409	946	N>S		No	ClinGen ExAC gnomAD
TCGA novel	947	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868515101 CA106872530	953	R>C		No	ClinGen gnomAD
CA106872534 rs913674843	958	M>R		No	ClinGen TOPMed
TCGA novel	960	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747443665 CA3091412	961	K>R		No	ClinGen ExAC TOPMed gnomAD
CA358345927 rs1225068029	964	F>L		No	ClinGen Ensembl
CA3091414 rs777218169	968	N>S		No	ClinGen ExAC gnomAD
CA106872552 rs966859917	974	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA358346170 rs1444750996 COSM1226770	974	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA358346184 rs1560822162	975	Q>E		No	ClinGen Ensembl
TCGA novel	975	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748709525 CA3091415	976	C>R		No	ClinGen ExAC gnomAD
rs1248204684 CA358346269	979	N>S		No	ClinGen gnomAD
rs1473115946 CA358346755	995	M>L		No	ClinGen gnomAD
CA358346758 rs1473115946	995	M>V		No	ClinGen gnomAD
CA358311454 rs1448128745	996	E>A		No	ClinGen TOPMed
TCGA novel	999	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370600192 CA106857841	1004	L>I		No	ClinGen ESP TOPMed
TCGA novel	1006	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1007	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1008	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751266785 CA3091431	1011	E>Q		No	ClinGen ExAC gnomAD
CA358311579 rs1391134713	1013	M>I		No	ClinGen gnomAD
TCGA novel	1016	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA106857851 rs867963751	1020	K>R		No	ClinGen Ensembl
TCGA novel	1022	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358311662 rs1411140068	1024	K>N		No	ClinGen gnomAD
rs1337982374 CA358311659	1024	K>R		No	ClinGen gnomAD
rs144182373 CA106857862	1026	R>Q		No	ClinGen ESP TOPMed gnomAD
TCGA novel	1027	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755343336 CA3091432	1028	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1029	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1560822873 CA358311695	1030	P>A	Variant assessed as Somatic; 4.771e-05 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA106857885 rs868539925	1030	P>L		No	ClinGen Ensembl
rs751213732 CA3091459	1035	R>C		No	ClinGen ExAC gnomAD
CA3091460 rs754714645	1035	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3091461 rs367991075	1038	D>G		No	ClinGen ESP ExAC gnomAD
COSM1427324 rs756443687 CA3091463	1040	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778287757 CA3091464	1040	A>V		No	ClinGen ExAC gnomAD
rs761915646 CA3091465	1041	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM1051640 rs746068709 CA3091468	1044	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA358311818 rs1388282281	1047	K>R		No	ClinGen TOPMed
rs772337987 CA3091469 COSM285198	1048	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1435956124 CA358311841	1051	K>Q		No	ClinGen gnomAD

4 associated diseases with O60264

[MIM: 613684]: Rubinstein-Taybi syndrome 2 (RSTS2)

A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 618333]: Menke-Hennekam syndrome 2 (MKHK2)

A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients. . Note=The disease is caused by variants affecting the gene represented in this entry.
A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. . Note=The disease is caused by variants affecting the gene represented in this entry.

9 regional properties for O60264

Type	Name	Position	InterPro Accession
domain	Zinc finger, TAZ-type	331 - 417	IPR000197-1
domain	Zinc finger, TAZ-type	1728 - 1809	IPR000197-2
domain	Zinc finger, ZZ-type	1664 - 1713	IPR000433
domain	Bromodomain	1048 - 1158	IPR001487
domain	Coactivator CBP, KIX domain	566 - 646	IPR003101
domain	CREB-binding protein/p300, atypical RING domain	1156 - 1242	IPR010303
domain	Nuclear receptor coactivator, CREB-bp-like, interlocking	1992 - 2098	IPR014744
conserved_site	Bromodomain, conserved site	1072 - 1131	IPR018359
domain	CBP/p300-type histone acetyltransferase domain	1287 - 1663	IPR031162

Functions

		Description
EC Number
Subcellular Localization	Nucleus Chromosome	Localizes to mitotic chromosomes (PubMed:12972596) Co-localizes with RSF1 in the nucleus (PubMed:12972596) Co-localizes with PCNA at replication foci during S phase (PubMed:15543136) Co-localizes with BAZ1B/WSTF at replication foci during late-S phase (PubMed:15543136) Recruited to DNA damage sites following interactiuon with SIRT6 (PubMed:23911928)
PANTHER Family	PTHR45623	CHROMODOMAIN-HELICASE-DNA-BINDING PROTEIN 3-RELATED-RELATED
PANTHER Subfamily	PTHR45623:SF49	SWI_SNF RELATED, MATRIX ASSOCIATED, ACTIN DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 1
PANTHER Protein Class	chromatin/chromatin-binding, or -regulatory protein
PANTHER Pathway Category	Wnt signaling pathway SWI/SNF

15 GO annotations of cellular component

Name	Definition
ACF complex	An ISWI complex that contains an ATPase subunit of the ISWI family (SNF2H in mammals, Isw2 in S. cerevisiae), an ACF1 homolog, and generally no other subunits, though Xenopus is an exception with a third non-conserved subunit. ACF plays roles in regulation of RNA polymerase II transcription and in DNA replication and repair.
B-WICH complex	A chromatin remodeling complex that positively regulates histone H3 acetylation, in particular H3K9, by recruiting histone acetyltransferases to rDNA gene regions. Located in the nucleolus where it assembles on RNA Polymerase I (Pol I) and possibly on RNA Polymerase III (Pol III) promoter and coding regions during early G1 phase and activates the post-initiation phases of Pol I transcription. May also activate RNA Polymerase II (Pol II) gene transcription. In mammals, B-WICH contains the WICH complex core of BAZ1B and SMARCA5, additional protein subunits and possibly rRNAs. Although it contains several catalytic subunits it is not clear which functions are carried out by the complex itself.
CHRAC	An ISWI complex that contains an ATPase subunit of the ISWI family (SNF2H in mammals, Isw2 in S. cerevisiae), an ACF1 homolog, and additional small histone fold subunits (generally two of these, but Xenopus has only one and some additional non-conserved subunits). CHRAC plays roles in the regulation of RNA polymerase II transcription and in DNA replication and repair.
chromatin silencing complex	Any protein complex that mediates changes in chromatin structure that result in transcriptional silencing.
condensed chromosome	A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure.
fibrillar center	A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
NoRC complex	An ISWI complex that contains an ATPase subunit of the ISWI family (specifically SNF2H in mammals, which contain two ISWI homologs) and a Tip5 homolog. In mammals, NoRC is involved in regulation of transcription from RNAP I and RNA polymerase III promoters.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
NURF complex	An ISWI complex that contains an ATPase subunit of the ISWI family (SNF2L in mammals), a NURF301 homolog (BPTF in humans), and additional subunits, though the composition of these additional subunits varies slightly with species. NURF is involved in regulation of transcription from TRNA polymerase II promoters.
pericentric heterochromatin	Heterochromatin that is located adjacent to the CENP-A rich centromere 'central core' and characterized by methylated H3 histone at lysine 9 (H3K9me2/H3K9me3).
RSF complex	An ISWI complex that contains an ATPase subunit of the ISWI family (SNF2H in mammals) and an RSF1 homolog. It mediates nucleosome deposition and generates regularly spaced nucleosome arrays. In mammals, RSF is involved in regulation of transcription from RNA polymerase II promoters).
site of double-strand break	A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.
WICH complex	An ISWI complex that contains an ATPase subunit of the ISWI family (specifically SNF2H in mammals, which contain two ISWI homologs) and WSTF (Williams Syndrome Transcription Factor). WICH plays roles in regulation of RNAP I and III transcription and in DNA replication and repair.

8 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATP-dependent activity, acting on DNA	Catalytic activity that acts to modify DNA, driven by ATP hydrolysis.
ATP-dependent chromatin remodeler activity	An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
helicase activity	Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix.
histone octamer slider activity	A chromatin remodeler activity that slides core histone octamers along chromosomal DNA.
nucleosome binding	Binding to a nucleosome, a complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures.

20 GO annotations of biological process

Name	Definition
cellular response to leukemia inhibitory factor	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leukemia inhibitory factor stimulus.
chromatin remodeling	A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
DNA-templated transcription initiation	The initial step of transcription, consisting of the assembly of the RNA polymerase preinitiation complex (PIC) at a gene promoter, as well as the formation of the first few bonds of the RNA transcript. Transcription initiation includes abortive initiation events, which occur when the first few nucleotides are repeatedly synthesized and then released, and ends when promoter clearance takes place.
negative regulation of mitotic chromosome condensation	Any process that stops, prevents or reduces the frequency, rate or extent of mitotic chromosome condensation.
negative regulation of transcription by RNA polymerase I	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase I.
nucleosome assembly	The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.
positive regulation of DNA replication	Any process that activates or increases the frequency, rate or extent of DNA replication.
positive regulation of histone acetylation	Any process that activates or increases the frequency, rate or extent of the addition of an acetyl group to a histone protein.
positive regulation of histone deacetylation	Any process that activates or increases the frequency, rate or extent of the removal of acetyl groups from histones.
positive regulation of histone methylation	Any process that activates or increases the frequency, rate or extent of the covalent addition of methyl groups to histones.
positive regulation of transcription by RNA polymerase I	Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase I.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription by RNA polymerase III	Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase III.
rDNA heterochromatin assembly	The formation of heterochromatin at ribosomal DNA, characterized by the modified histone H3K9me3.
regulation of DNA methylation	Any process that modulates the frequency, rate or extent of the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine.
regulation of DNA replication	Any process that modulates the frequency, rate or extent of DNA replication.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of response to DNA damage stimulus	Any process that modulates the frequency, rate or extent of response to DNA damage stimulus.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P38144	ISW1	ISWI chromatin-remodeling complex ATPase ISW1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q3B7N1	CHD1L	Chromodomain-helicase-DNA-binding protein 1-like	Bos taurus (Bovine)	SS
Q24368	Iswi	Chromatin-remodeling complex ATPase chain Iswi	Drosophila melanogaster (Fruit fly)	SS
Q86WJ1	CHD1L	Chromodomain-helicase-DNA-binding protein 1-like	Homo sapiens (Human)	EV
Q9NRZ9	HELLS	Lymphoid-specific helicase	Homo sapiens (Human)	PR
Q9H4L7	SMARCAD1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1	Homo sapiens (Human)	PR
P28370	SMARCA1	Probable global transcription activator SNF2L1	Homo sapiens (Human)	SS
Q60848	Hells	Lymphocyte-specific helicase	Mus musculus (Mouse)	PR
Q9CXF7	Chd1l	Chromodomain-helicase-DNA-binding protein 1-like	Mus musculus (Mouse)	SS
Q6PGB8	Smarca1	Probable global transcription activator SNF2L1	Mus musculus (Mouse)	SS
Q91ZW3	Smarca5	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5	Mus musculus (Mouse)	SS
P40201	Chd1	Chromodomain-helicase-DNA-binding protein 1	Mus musculus (Mouse)	PR
Q7G8Y3	Os01g0367900	Probable chromatin-remodeling complex ATPase chain	Oryza sativa subsp japonica (Rice)	PR
P41877	isw-1	Chromatin-remodeling complex ATPase chain isw-1	Caenorhabditis elegans	SS
Q22516	chd-3	Chromodomain-helicase-DNA-binding protein 3 homolog	Caenorhabditis elegans	PR
Q9XFH4	DDM1	ATP-dependent DNA helicase DDM1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8RWY3	CHR11	ISWI chromatin-remodeling complex ATPase CHR11	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSSAAEPPPP	PPPESAPSKP	AASIASGGSN	SSNKGGPEGV	AAQAVASAAS	AGPADAEMEE
70	80	90	100	110	120
IFDDASPGKQ	KEIQEPDPTY	EEKMQTDRAN	RFEYLLKQTE	LFAHFIQPAA	QKTPTSPLKM
130	140	150	160	170	180
KPGRPRIKKD	EKQNLLSVGD	YRHRRTEQEE	DEELLTESSK	ATNVCTRFED	SPSYVKWGKL
190	200	210	220	230	240
RDYQVRGLNW	LISLYENGIN	GILADEMGLG	KTLQTISLLG	YMKHYRNIPG	PHMVLVPKST
250	260	270	280	290	300
LHNWMSEFKR	WVPTLRSVCL	IGDKEQRAAF	VRDVLLPGEW	DVCVTSYEML	IKEKSVFKKF
310	320	330	340	350	360
NWRYLVIDEA	HRIKNEKSKL	SEIVREFKTT	NRLLLTGTPL	QNNLHELWSL	LNFLLPDVFN
370	380	390	400	410	420
SADDFDSWFD	TNNCLGDQKL	VERLHMVLRP	FLLRRIKADV	EKSLPPKKEV	KIYVGLSKMQ
430	440	450	460	470	480
REWYTRILMK	DIDILNSAGK	MDKMRLLNIL	MQLRKCCNHP	YLFDGAEPGP	PYTTDMHLVT
490	500	510	520	530	540
NSGKMVVLDK	LLPKLKEQGS	RVLIFSQMTR	VLDILEDYCM	WRNYEYCRLD	GQTPHDERQD
550	560	570	580	590	600
SINAYNEPNS	TKFVFMLSTR	AGGLGINLAT	ADVVILYDSD	WNPQVDLQAM	DRAHRIGQTK
610	620	630	640	650	660
TVRVFRFITD	NTVEERIVER	AEMKLRLDSI	VIQQGRLVDQ	NLNKIGKDEM	LQMIRHGATH
670	680	690	700	710	720
VFASKESEIT	DEDIDGILER	GAKKTAEMNE	KLSKMGESSL	RNFTMDTESS	VYNFEGEDYR
730	740	750	760	770	780
EKQKIAFTEW	IEPPKRERKA	NYAVDAYFRE	ALRVSEPKAP	KAPRPPKQPN	VQDFQFFPPR
790	800	810	820	830	840
LFELLEKEIL	FYRKTIGYKV	PRNPELPNAA	QAQKEEQLKI	DEAESLNDEE	LEEKEKLLTQ
850	860	870	880	890	900
GFTNWNKRDF	NQFIKANEKW	GRDDIENIAR	EVEGKTPEEV	IEYSAVFWER	CNELQDIEKI
910	920	930	940	950	960
MAQIERGEAR	IQRRISIKKA	LDTKIGRYKA	PFHQLRISYG	TNKGKNYTEE	EDRFLICMLH
970	980	990	1000	1010	1020
KLGFDKENVY	DELRQCIRNS	PQFRFDWFLK	SRTAMELQRR	CNTLITLIER	ENMELEEKEK
1030	1040	1050
AEKKKRGPKP	STQKRKMDGA	PDGRGRKKKL	KL