AiPD: Autoinhibited Protein Database

O95273

Gene name	CCNDBP1 (DIP1, GCIP, HHM)
Protein name	Cyclin-D1-binding protein 1
Names	Grap2 and cyclin-D-interacting protein, Human homolog of Maid
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23582
EC number
Protein Class	CYCLIN D1-BINDING PROTEIN 1 (PTHR15492)

Descriptions

CCNDBP1 (Cyclin-D1-binding protein 1) is a dominant-negative helix-loop-helix (dnHLH) protein, which lacks DNA-binding ability and captures basic HLH transcription factors to inhibit cellular differentiation and enhance cell proliferation and motility. In the structure of a free-standing human CCNDBP1, CCNDBP1 adopts a V-shaped conformation, with N-terminal and C-terminal five-helix bundles connected by the HLH region. The HLH region is extended, with its hydrophobic dimerization interfaces embedded in the N- and C-terminal helix bundles. CCNDBP1 exists in slow equilibrium between the V-shaped form and the partially unfolded, relaxed form. The latter form is readily available for interactions with its target bHLH transcription factors. Mutations disrupting the interactions in the V-shaped form compromise the target transcription factor specificity.

Autoinhibitory domains (AIDs)

Target domain	151-200 (HLH region)
Relief mechanism	Partner binding
Assay	Structural analysis, Mutagenesis experiment

AID

1-138 (N-bundle)

Target domain

151-200 (HLH region)

Relief mechanism

Partner binding (Target transcription factor binding)

Assay

Structural analysis, Mutagenesis experiment

Target domain	151-200 (HLH region)
Relief mechanism	Partner binding
Assay	Structural analysis, Mutagenesis experiment

AID

229-360 (C-bundle)

Target domain

151-200 (HLH region)

Relief mechanism

Partner binding (Target transcription factor binding)

Assay

Structural analysis, Mutagenesis experiment

Accessory elements

No accessory elements

References

Ishii R et al. (2012) "Structure of a dominant-negative helix-loop-helix transcriptional regulator suggests mechanisms of autoinhibition", The EMBO journal, 31, 2541-52

Autoinhibited structure

Activated structure

2 structures for O95273

Entry ID	Method	Resolution	Chain	Position	Source
3AY5	X-ray	250 A	A	1-360	PDB
AF-O95273-F1	Predicted				AlphaFoldDB

314 variants for O95273

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs752644288 CA7519705	4	A>P		No	ClinGen ExAC
CA392094180 rs1290724872	4	A>V		No	ClinGen gnomAD
CA7519706 rs756127914	5	T>N		No	ClinGen ExAC gnomAD
CA392094187 rs1227854251	6	A>T		No	ClinGen gnomAD
CA7519707 rs777655444	7	P>L		No	ClinGen ExAC TOPMed gnomAD
CA392094196 rs777655444	7	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	7	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1596384847 CA392094200	8	A>S		No	ClinGen Ensembl
rs749097158 CA7519709	10	A>S		No	ClinGen ExAC gnomAD
rs749097158 CA269962181	10	A>T		No	ClinGen ExAC gnomAD
rs1596384874 CA392094213	10	A>V		No	ClinGen Ensembl
rs1450790036 CA392094215	11	V>L		No	ClinGen gnomAD
rs373981071 CA7519711	12	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7519712 rs745528542	13	T>N		No	ClinGen ExAC gnomAD
rs745528542 CA7519713	13	T>S		No	ClinGen ExAC gnomAD
CA392094245 rs1215165011	16	S>L		No	ClinGen TOPMed
rs774984541 CA7519714	18	L>S		No	ClinGen ExAC gnomAD
TCGA novel	19	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA392094259 rs1390522790	19	E>Q		No	ClinGen gnomAD
CA7519715 rs761111565	20	Q>K		No	ClinGen ExAC gnomAD
rs769134985 CA7519716	20	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs777186603 CA7519718	21	L>H		No	ClinGen ExAC gnomAD
rs777186603 CA7519717	21	L>P		No	ClinGen ExAC gnomAD
rs1409686710 CA392094277	22	R>G		No	ClinGen gnomAD
rs1233636288 CA392094284	23	H>P		No	ClinGen TOPMed
rs1286552423 CA392094291	24	L>*		No	ClinGen TOPMed gnomAD
rs1286552423 CA392094293	24	L>S		No	ClinGen TOPMed gnomAD
CA392094299 rs1245847061	25	A>E		No	ClinGen gnomAD
rs1323537684 CA392094296	25	A>T		No	ClinGen gnomAD
rs750613591 CA7519720	26	E>D		No	ClinGen ExAC
CA392094325 rs766502621	29	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766502621 CA7519722	29	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1343906641 CA392094328	30	L>S		No	ClinGen TOPMed
rs1253622969 CA392094337	31	L>R		No	ClinGen gnomAD
CA7519726 rs753760173	33	P>L		No	ClinGen ExAC gnomAD
rs777850115 CA392094345	33	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7519725 rs777850115	33	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7519727 rs757054271	35	V>E		No	ClinGen ExAC gnomAD
CA7519728 rs757054271	35	V>G		No	ClinGen ExAC gnomAD
CA269962204 rs868184438	36	R>W		No	ClinGen Ensembl
CA392094378 rs1254931365	37	V>G		No	ClinGen gnomAD
rs1422288157 CA392094361	37	V>I		No	ClinGen TOPMed gnomAD
CA7519743 rs767754785	38	G>C		No	ClinGen ExAC gnomAD
CA7519744 rs377676602	39	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA392094402 rs1427630362	41	Q>L		No	ClinGen gnomAD
rs1257814901 CA392094407	42	E>*		No	ClinGen TOPMed
CA7519745 rs202103344	43	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA269962244 rs202103344	43	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1175927826 CA392094420	44	T>N		No	ClinGen gnomAD
CA392094423 rs1596386018	45	E>K		No	ClinGen Ensembl
CA392094427 rs1232112243	45	E>V		No	ClinGen gnomAD
CA7519746 rs765022370	46	E>K		No	ClinGen ExAC gnomAD
CA392094442 rs1321541593	47	F>S		No	ClinGen gnomAD
CA7519747 rs750169685	49	R>*		No	ClinGen ExAC gnomAD
TCGA novel	51	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA269962248 rs933383898	51	M>K		No	ClinGen gnomAD
rs530336088 CA7519748	56	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392094506 rs530336088	56	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392094510 rs1278791600	57	N>D		No	ClinGen TOPMed
rs1308530223 CA392094529	58	E>K		No	ClinGen gnomAD
CA392094551 rs1596386786	61	V>G		No	ClinGen Ensembl
rs140148623 CA392094549	61	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140148623 CA7519785	61	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1396179965 CA392094559	62	T>I		No	ClinGen TOPMed
CA7519787 rs200770599	63	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1379455848 CA392094585	65	R>G		No	ClinGen gnomAD
TCGA novel	67	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA7519790 rs767075145	68	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1386622433 CA392094638	69	T>A		No	ClinGen TOPMed gnomAD
rs1344716432 CA392094654	70	L>R		No	ClinGen gnomAD
CA7519791 rs369744967	70	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA392094657 rs1206561326	71	T>P		No	ClinGen gnomAD
CA392094692 rs1212341642	73	V>A		No	ClinGen gnomAD
CA392094697 rs1437408564	74	F>L		No	ClinGen TOPMed
CA7519794 rs754359018	75	S>P		No	ClinGen ExAC TOPMed gnomAD
CA392094751 rs1213068241	76	Q>H		No	ClinGen TOPMed
rs757852174 CA7519795	77	L>F		No	ClinGen ExAC gnomAD
CA392094764 rs1451076687	77	L>R		No	ClinGen gnomAD
rs746229862 CA7519797	79	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1408079098 CA392094823	80	P>L		No	ClinGen gnomAD
TCGA novel	81	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs747275178 CA7519800	82	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747130729 CA7519820	84	E>A		No	ClinGen ExAC gnomAD
CA392096695 rs1203998169	85	T>A		No	ClinGen TOPMed
CA269963236 rs560492317	85	T>I		No	ClinGen Ensembl
rs969280584 CA269963242	88	F>C		No	ClinGen gnomAD
TCGA novel CA7519823 rs374008204	88	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD
rs1247208860 CA392096871	91	Q>P		No	ClinGen gnomAD
rs748227477 CA7519824	93	H>P		No	ClinGen ExAC TOPMed gnomAD
rs1413467539 CA392096966	95	A>V		No	ClinGen gnomAD
rs765379197 CA7519826	96	I>*		No	ClinGen ExAC
rs745841620 CA7519829	97	K>E		No	ClinGen ExAC gnomAD
rs771727395 CA7519830	97	K>N		No	ClinGen ExAC gnomAD
CA269963260 rs150871238	98	A>T		No	ClinGen ESP gnomAD
CA269963264 rs1005785726	100	I>T		No	ClinGen TOPMed
TCGA novel	101	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1450785463 CA392097128	102	V>A		No	ClinGen TOPMed
CA7519832 rs760444564	103	Y>H		No	ClinGen ExAC gnomAD
rs763832976 CA7519833	104	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs761384847 CA7519835	107	P>R		No	ClinGen ExAC gnomAD
rs776463825 CA7519834	107	P>S		No	ClinGen ExAC gnomAD
rs764859089 CA7519836	108	K>E		No	ClinGen ExAC gnomAD
rs1596390767 CA392097253	108	K>R		No	ClinGen Ensembl
rs536019942 CA7519837	111	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA269963492 rs371001139	112	I>M		No	ClinGen gnomAD
rs534961984 CA7519854	112	I>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7519855 rs772790272	115	R>K		No	ClinGen ExAC gnomAD
CA269963507 rs200295399	116	K>R		No	ClinGen 1000Genomes
COSM1372974	118	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA7519857 rs766908665	118	V>I		No	ClinGen ExAC gnomAD
rs201779296 CA7519859	119	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7519858 rs554647909	119	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1462717462 CA392097650	120	G>D		No	ClinGen TOPMed
rs139518864 COSM2187936 CA7519860	121	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
CA7519861 rs752876914	122	T>I		No	ClinGen ExAC gnomAD
CA7519864 rs777658716	124	D>G		No	ClinGen ExAC TOPMed gnomAD
rs370265385 CA7519863	124	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs201120330 CA7519865	125	I>N		No	ClinGen 1000Genomes ExAC
CA7519867 rs373625967	126	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7519868 rs746942406	127	D>G		No	ClinGen ExAC gnomAD
CA392097792 rs1596391659	128	G>D		No	ClinGen Ensembl
rs1365681969 CA392097785	128	G>S		No	ClinGen TOPMed gnomAD
CA392097810 rs1459645461	129	M>R		No	ClinGen gnomAD
rs114873082 CA7519870	129	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA269963539 rs972156478	131	Q>*		No	ClinGen TOPMed gnomAD
rs781135511 CA7519871	133	M>T		No	ClinGen ExAC TOPMed gnomAD
CA269963542 rs549874240	134	E>K		No	ClinGen Ensembl
CA392097937 rs1205022621	137	S>P		No	ClinGen TOPMed
rs747743578 CA7519872	137	S>Y		No	ClinGen ExAC gnomAD
rs772810011 CA7519874	138	V>I		No	ClinGen ExAC TOPMed gnomAD
rs762497477 CA7519875	139	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7519876 rs770401057	140	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1306589490 CA392097996	141	T>A		No	ClinGen gnomAD
rs1306589490 CA392097999	141	T>S		No	ClinGen gnomAD
CA392098051 rs1437441245	143	S>N		No	ClinGen gnomAD
rs375209626 CA7519896	143	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1562925	144	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA392098132 rs1361175076	144	P>S		No	ClinGen gnomAD
COSM4054771	144	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1307496496 CA392098193	147	N>D		No	ClinGen TOPMed
rs369370303 CA7519897	147	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7519898 rs369370303	147	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs772556010 CA7519899	149	L>F		No	ClinGen ExAC gnomAD
rs776015310 CA7519900	150	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1490608746 CA392098250	151	S>F		No	ClinGen gnomAD
CA7519901 rs761003395	152	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs998140339 CA269963691	153	N>H		No	ClinGen gnomAD
rs764387971 CA7519902	153	N>S		No	ClinGen ExAC gnomAD
rs1273693614 CA392098283	154	S>T		No	ClinGen TOPMed gnomAD
CA7519904 rs149681338	155	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs776873138 CA7519903	155	V>F		No	ClinGen ExAC gnomAD
rs372656304 CA7519905 COSM3361400	158	A>V	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7519907 rs147781453	159	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567263481 CA392098349	160	Q>*		No	ClinGen Ensembl
CA7519909 rs532691454	165	I>T		No	ClinGen ExAC gnomAD
CA269963712 rs961943105	166	P>S		No	ClinGen Ensembl
CA392098427 rs1363268043	167	R>G		No	ClinGen gnomAD
rs1443928626 CA392098436	168	D>N		No	ClinGen gnomAD
TCGA novel	175	L>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA7519926 rs763105649	176	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1276342693 CA392098534	177	L>Q		No	ClinGen TOPMed
CA392098545 rs1567263795	179	K>E		No	ClinGen Ensembl
TCGA novel	179	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA392098567 rs1341888150	182	D>Y		No	ClinGen gnomAD
rs775211097 CA269963924	184	V>L		No	ClinGen TOPMed gnomAD
CA269963921 rs775211097	184	V>M		No	ClinGen TOPMed gnomAD
CA7519929 rs573094848	187	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA392098614 rs1308231503	189	E>K		No	ClinGen TOPMed
TCGA novel	190	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1567263834 CA392098641	192	E>Q		No	ClinGen Ensembl
TCGA novel	194	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs145310962 CA7519954	195	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567264047 CA392099254	195	V>M		No	ClinGen Ensembl
rs147637019 CA7519955	196	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs758060193 CA7519956	197	E>K		No	ClinGen ExAC gnomAD
rs1201112385 CA392099387	202	S>A		No	ClinGen gnomAD
rs1567264082 CA392099407	203	G>D		No	ClinGen Ensembl
rs1429610350 CA392099416	204	L>F		No	ClinGen gnomAD
rs966948834 CA269964083	205	L>*		No	ClinGen TOPMed
COSM4054772	205	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs754554121 CA7519959	206	N>S		No	ClinGen ExAC gnomAD
rs1252392279 CA392099501	208	T>I		No	ClinGen TOPMed
rs1387705010 CA392099489	208	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770244627 CA7519962	209	E>Q		No	ClinGen ExAC gnomAD
CA269964101 rs867909765	212	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs778288079 CA7519963	212	N>S		No	ClinGen ExAC TOPMed gnomAD
rs778288079 CA269964104	212	N>T		No	ClinGen ExAC TOPMed gnomAD
rs565667051 CA269964117	213	S>C		No	ClinGen Ensembl
rs749468282 CA7519964	215	N>S		No	ClinGen ExAC
rs1284124160 CA392099655	217	N>H		No	ClinGen gnomAD
CA269964123 rs925458780	219	E>V		No	ClinGen TOPMed
rs1281361302 CA392099740	220	D>E		No	ClinGen gnomAD
rs774705009 CA7519967	221	D>N		No	ClinGen ExAC gnomAD
CA392099785 rs1487170506	223	L>S		No	ClinGen gnomAD
CA392099796 rs1224489306	224	G>E		No	ClinGen gnomAD
CA392099817 rs1347770884	225	F>C		No	ClinGen TOPMed
CA392099861 rs1479914363	228	N>H		No	ClinGen gnomAD
rs1196566942 CA392099867	228	N>S		No	ClinGen gnomAD
CA392099885 rs1189264417	229	Q>*		No	ClinGen Ensembl
CA7519970 rs149102527	229	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1158472901 CA392099911	230	D>E		No	ClinGen gnomAD
CA392099902 rs1470252275	230	D>N		No	ClinGen gnomAD
rs761811013 CA7519971	231	L>F		No	ClinGen ExAC gnomAD
CA269964155 rs764950508	232	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA392099951 rs1304154403	232	Y>C		No	ClinGen TOPMed gnomAD
rs1426899825 CA392099948	232	Y>H		No	ClinGen gnomAD
rs762040761 CA269964160	234	S>L		No	ClinGen Ensembl
CA7519973 rs376549003	235	E>A		No	ClinGen ESP ExAC gnomAD
rs762801668 CA7519974	236	D>N		No	ClinGen ExAC gnomAD
TCGA novel	237	D>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA7519976 rs201609265	237	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392100054 rs201609265	237	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392100082 rs1351452619	238	Q>*		No	ClinGen gnomAD
TCGA novel	239	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM961894	240	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM961895	240	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA7519979 rs753079979	243	P>L		No	ClinGen ExAC gnomAD
COSM3501354	243	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA7519980 rs750871228	245	L>V		No	ClinGen ExAC TOPMed gnomAD
CA269964173 rs528672559	246	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392100251 rs1207686986	246	A>S		No	ClinGen TOPMed gnomAD
CA7519981 rs528672559	246	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1365367246 CA392100266	247	L>P		No	ClinGen TOPMed
CA7519983 rs757739759	247	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1567264334 CA392100276	248	V>A		No	ClinGen Ensembl
rs1378952742 CA392100272	248	V>L		No	ClinGen gnomAD
CA392100290 rs1164527680	249	R>K		No	ClinGen gnomAD
COSM961896	250	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA269964189 rs900415999	253	A>P		No	ClinGen TOPMed
rs771975128 CA7519987	254	C>F		No	ClinGen ExAC gnomAD
CA269964190 rs771975128	254	C>S		No	ClinGen ExAC gnomAD
rs1390847447 CA392100418	255	L>P		No	ClinGen gnomAD
rs1326953594 CA392100450	256	K>N		No	ClinGen TOPMed gnomAD
rs893367567 CA269964191	258	I>F		No	ClinGen Ensembl
CA7519988 rs775648217	258	I>N		No	ClinGen ExAC gnomAD
rs200466580 CA7519989	259	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7519992 rs373733597	259	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373733597 CA7519991	259	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200466580 COSM177456 CA7519990	259	R>W	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA392100590 rs1432284003	261	L>F		No	ClinGen TOPMed gnomAD
CA392100555 rs1358438554	261	L>I		No	ClinGen gnomAD
rs537729183 CA269964210	261	L>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs773837772 CA7519994	263	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7519995 rs367701381	263	A>V		No	ClinGen ESP ExAC gnomAD
rs1341200511 CA392100679	266	G>R		No	ClinGen TOPMed
CA392100761 rs1216059140	269	D>E		No	ClinGen TOPMed gnomAD
CA7519996 rs114590161	269	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766441520 CA269964223	270	Q>H		No	ClinGen Ensembl
CA392100772 rs567268166	270	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
CA7519997 rs567268166	270	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1362330051 CA392100787	271	V>M		No	ClinGen TOPMed
CA392100819 rs1184735150	273	Q>*		No	ClinGen gnomAD
CA392100822 rs1243118527	273	Q>R		No	ClinGen TOPMed gnomAD
CA269964226 rs199950438	275	D>G		No	ClinGen 1000Genomes
rs755756110 CA7519998 CA392100889	276	D>E		No	ClinGen ExAC gnomAD
rs78193368 CA7519999	277	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392100932 rs1461679231	279	D>A		No	ClinGen TOPMed gnomAD
CA392100934 rs1461679231	279	D>G		No	ClinGen TOPMed gnomAD
rs754447280 CA7520000	280	I>T		No	ClinGen ExAC gnomAD
rs1453537034 CA392100995	282	D>E		No	ClinGen gnomAD
CA7520001 rs757653956	282	D>H		No	ClinGen ExAC gnomAD
CA7520002 rs779337259	284	I>N		No	ClinGen ExAC gnomAD
CA7520003 rs746016475	286	P>L		No	ClinGen ExAC gnomAD
COSM4054773	290	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA7520020 rs376350903	292	A>S		No	ClinGen ESP ExAC gnomAD
rs1161170118 CA392101427	294	S>G		No	ClinGen gnomAD
CA392101430 rs1432510183	294	S>N		No	ClinGen gnomAD
rs1296130025 CA392101465	295	I>M		No	ClinGen gnomAD
CA7520021 rs368094476	295	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345753032 CA392101452	295	I>V		No	ClinGen TOPMed gnomAD
rs751800914 CA7520023	297	P>S		No	ClinGen ExAC gnomAD
rs1364848547 CA392101518	298	P>S		No	ClinGen TOPMed gnomAD
rs1225010855 CA392101534	299	M>V		No	ClinGen gnomAD
rs1308290500 CA392101559	300	C>R		No	ClinGen gnomAD
CA7520027 rs749166892	301	H>Q		No	ClinGen ExAC gnomAD
rs781254394 CA7520026	301	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778787886 CA7520029	302	L>P		No	ClinGen ExAC gnomAD
CA7520032 rs140520048	304	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7520031 rs140520048	304	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7520034 rs567783540	305	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA269964568 rs776264677	305	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM169940 CA7520035 rs776264677	305	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	307	N>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs761292516 CA392101714	307	N>S		No	ClinGen ExAC gnomAD
CA7520036 rs761292516	307	N>T		No	ClinGen ExAC gnomAD
CA269965202 rs1003145014	308	S>Y		No	ClinGen TOPMed gnomAD
rs115573144 CA392102538	309	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs115573144 CA7520070	309	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	314	V>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA7520072 rs138245123	314	V>I		No	ClinGen ESP ExAC gnomAD
CA392102591 rs138245123	314	V>L		No	ClinGen ESP ExAC gnomAD
CA7520073 rs767698971	317	K>E		No	ClinGen ExAC gnomAD
rs995039022 CA269965216	318	A>T		No	ClinGen TOPMed gnomAD
rs752914840 CA7520074	319	L>F		No	ClinGen ExAC gnomAD
COSM1478131	320	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA7520076 rs377272929	322	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7520077 rs531387107	323	K>E		No	ClinGen ExAC TOPMed gnomAD
COSM6077118	325	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760817757 CA7520095	329	P>L		No	ClinGen ExAC TOPMed gnomAD
CA392102931 rs1340409183	329	P>S		No	ClinGen TOPMed gnomAD
rs1157576269 CA392103002	332	E>A		No	ClinGen TOPMed
rs1235048445 CA392103117	337	P>H		No	ClinGen gnomAD
CA392103136 rs1204932144	338	L>F		No	ClinGen gnomAD
CA7520097 rs369423898	338	L>V		No	ClinGen ESP ExAC gnomAD
CA269965292 rs934584146	340	I>M		No	ClinGen Ensembl
CA7520101 rs754778271	346	C>*		No	ClinGen ExAC TOPMed gnomAD
CA392103290 rs1440849154	347	M>T		No	ClinGen TOPMed
CA269965300 rs1044049921	348	N>S		No	ClinGen TOPMed gnomAD
rs780852147 CA7520102	349	R>G		No	ClinGen ExAC TOPMed gnomAD
rs553777674 CA269965304	354	T>A		No	ClinGen gnomAD
rs553777674 CA392103418	354	T>S		No	ClinGen gnomAD
rs755710855 CA7520104	355	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	355	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA392103490 rs1447411623	359	E>*		No	ClinGen TOPMed gnomAD

No associated diseases with O95273

5 regional properties for O95273

Type	Name	Position	InterPro Accession
conserved_site	ATP-dependent RNA helicase DEAD-box, conserved site	343 - 351	IPR000629
domain	Helicase, C-terminal domain-like	412 - 573	IPR001650
domain	DEAD/DEAH box helicase domain	202 - 389	IPR011545
domain	Helicase superfamily 1/2, ATP-binding domain	197 - 416	IPR014001
domain	RNA helicase, DEAD-box type, Q motif	178 - 206	IPR014014

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus
PANTHER Family	PTHR15492	CYCLIN D1-BINDING PROTEIN 1
PANTHER Subfamily	PTHR15492:SF4	CYCLIN-D1-BINDING PROTEIN 1
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2KIZ9	CCNDBP1	Cyclin-D1-binding protein 1	Bos taurus (Bovine)	SS
Q3TVC7	Ccndbp1	Cyclin-D1-binding protein 1	Mus musculus (Mouse)	SS
Q5BK06	Ccndbp1	Cyclin-D1-binding protein 1	Rattus norvegicus (Rat)	SS
A3KNI7	ccndbp1	Cyclin-D1-binding protein 1 homolog	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MASATAPAAA	VPTLASPLEQ	LRHLAEELRL	LLPRVRVGEA	QETTEEFNRE	MFWRRLNEAA
70	80	90	100	110	120
VTVSREATTL	TIVFSQLPLP	SPQETQKFCE	QVHAAIKAFI	AVYYLLPKDQ	GITLRKLVRG
130	140	150	160	170	180
ATLDIVDGMA	QLMEVLSVTP	TQSPENNDLI	SYNSVWVACQ	QMPQIPRDNK	AAALLMLTKN
190	200	210	220	230	240
VDFVKDAHEE	MEQAVEECDP	YSGLLNDTEE	NNSDNHNHED	DVLGFPSNQD	LYWSEDDQEL
250	260	270	280	290	300
IIPCLALVRA	SKACLKKIRM	LVAENGKKDQ	VAQLDDIVDI	SDEISPSVDD	LALSIYPPMC
310	320	330	340	350
HLTVRINSAK	LVSVLKKALE	ITKASHVTPQ	PEDSWIPLLI	NAIDHCMNRI	KELTQSELEL