AiPD: Autoinhibited Protein Database

P14921

Gene name	ETS1 (EWSR2)
Protein name	Protein C-ets-1
Names	p54
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2113
EC number
Protein Class	ETS (PTHR11849)

Descriptions

ETS1 is a member of the Ets family of DNA binding transcription factors. It is subject to multiple levels of regulation of their DNA binding and transactivation properties. ETS1 autoinhibition is mediated by the packing of helices within the N-terminal inhibitory domain and C-terminal inhibitory domain onto helix H1 of the ETS domain.

Autoinhibitory domains (AIDs)

Target domain	356-361 (Helix H1 of ETS domain)
Relief mechanism	Ligand binding, Others
Assay	Deletion assay, Structural analysis

AID

304-310 (Alpha-helix HI-1 in N-terminal inhibitory domain)

Target domain

356-361 (Helix H1 of ETS domain)

Relief mechanism

Ligand binding (DNA binding to ETS domain), Others (Cooperative binding to Ets binding site)

Assay

Deletion assay, Structural analysis

Target domain	356-361 (Helix H1 of ETS domain)
Relief mechanism	Ligand binding, Others
Assay	Deletion assay, Structural analysis

AID

412-441 (C-terminal inhibitory region)

Target domain

356-361 (Helix H1 of ETS domain)

Relief mechanism

Ligand binding (DNA binding to ETS domain), Others (Cooperative binding to Ets binding site)

Assay

Deletion assay, Structural analysis

Accessory elements

No accessory elements

References

Newman JA et al. (2015) "Structural insights into the autoregulation and cooperativity of the human transcription factor Ets-2", The Journal of biological chemistry, 290, 8539-49

Samorodnitsky D et al. (2015) "A Role for Autoinhibition in Preventing Dimerization of the Transcription Factor ETS1", The Journal of biological chemistry, 290, 22101-10

Basuyaux JP et al. (1997) "The Ets transcription factors interact with each other and with the c-Fos/c-Jun complex via distinct protein domains in a DNA-dependent and -independent manner", The Journal of biological chemistry, 272, 26188-95

Shiina M et al. (2015) "A novel allosteric mechanism on protein-DNA interactions underlying the phosphorylation-dependent regulation of Ets1 target gene expressions", Journal of molecular biology, 427, 1655-69

Babayeva ND et al. (2010) "Structural basis of Ets1 cooperative binding to palindromic sequences on stromelysin-1 promoter DNA", Cell cycle (Georgetown, Tex.), 9, 3054-62

Leprivier G et al. (2009) "Ets-1 p51 and p42 isoforms differentially modulate Stromelysin-1 promoter according to induced DNA bend orientation", Nucleic acids research, 37, 4341-52

Autoinhibited structure

Activated structure

22 structures for P14921

Entry ID	Method	Resolution	Chain	Position	Source
1GVJ	X-ray	153 A	A/B	297-441	PDB
2NNY	X-ray	258 A	A/B	280-441	PDB
2STT	NMR	-	A	320-415	PDB
2STW	NMR	-	A	320-415	PDB
3MFK	X-ray	300 A	A/B	280-441	PDB
3RI4	X-ray	300 A	A/D	280-441	PDB
3WTS	X-ray	235 A	C/H	276-441	PDB
3WTT	X-ray	235 A	C/H	276-441	PDB
3WTU	X-ray	270 A	C/H	276-441	PDB
3WTV	X-ray	270 A	C/H	276-441	PDB
3WTW	X-ray	290 A	C/H	276-441	PDB
3WTX	X-ray	280 A	C/H	276-441	PDB
3WTY	X-ray	270 A	C/H	276-441	PDB
3WTZ	X-ray	261 A	A/B	276-441	PDB
3WU0	X-ray	260 A	A/B	276-441	PDB
3WU1	X-ray	240 A	B	333-441	PDB
4L0Y	X-ray	250 A	B	296-441	PDB
4L0Z	X-ray	270 A	B	296-441	PDB
4L18	X-ray	230 A	B/F	296-441	PDB
4LG0	X-ray	219 A	B	331-440	PDB
5ZMC	X-ray	299 A	B	331-441	PDB
AF-P14921-F1	Predicted				AlphaFoldDB

234 variants for P14921

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000770888 rs1565372210	305	K>missing	11q partial monosomy syndrome [ClinVar]	Yes	ClinVar dbSNP
CA383293615 rs1473481918	2	K>E		No	ClinGen gnomAD
CA6356764 rs566415898	3	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199545018 CA383293570	8	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1314267632 CA383293573	8	K>T		No	ClinGen TOPMed
CA383293567 rs1345726211	9	P>S		No	ClinGen gnomAD
CA383293562 rs1365739223	10	T>A		No	ClinGen TOPMed
rs1331721404 CA383293555	11	L>F		No	ClinGen TOPMed gnomAD
CA383293553 rs1289344792	11	L>P		No	ClinGen gnomAD
CA383293556 rs1331721404	11	L>V		No	ClinGen TOPMed gnomAD
rs1565395355 CA383293539	13	I>M		No	ClinGen Ensembl
rs1294955556 CA383293544	13	I>V		No	ClinGen TOPMed
CA383293532 rs1336656952	14	I>M		No	ClinGen gnomAD
rs1349207403 CA383293535	14	I>N		No	ClinGen gnomAD
CA6356758 rs757506231	15	K>T		No	ClinGen ExAC TOPMed gnomAD
CA383293520 rs1591639680	16	T>R		No	ClinGen Ensembl
CA6356755 rs200525200	17	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA6356756 rs200525200	17	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA6356754 rs752779767	18	K>R		No	ClinGen ExAC gnomAD
rs1471454136 CA383293502	19	V>A		No	ClinGen gnomAD
rs766285567 CA6356753	19	V>I		No	ClinGen ExAC gnomAD
CA383293483 rs1591639617	22	E>A		No	ClinGen Ensembl
COSM220622 rs765035333 CA6356751	22	E>D	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1443143191 CA383293487	22	E>Q		No	ClinGen gnomAD
CA383293478 COSM220621 rs1202062176	23	L>F	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA383293480 rs1202062176	23	L>I		No	ClinGen gnomAD
CA383293476 rs1331510021	23	L>P		No	ClinGen gnomAD
rs761642922 CA6356749	24	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1228165667 CA383293465	25	P>S		No	ClinGen gnomAD
rs776231251 CA6356748	27	P>A		No	ClinGen ExAC gnomAD
rs768258893 CA6356747	27	P>L		No	ClinGen ExAC gnomAD
CA6356719 rs748336743	28	D>G		No	ClinGen ExAC TOPMed gnomAD
rs755017339 CA6356717	29	M>T		No	ClinGen ExAC gnomAD
rs187450978 CA6356716	33	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA383293399 rs1591611894	33	D>H		No	ClinGen Ensembl
rs757197855 CA6356714	36	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA383293326 rs1292480186	44	M>L		No	ClinGen gnomAD
rs1056567882 COSM48373 CA230928110	45	M>I	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA383293309 rs1486986607	46	S>T		No	ClinGen TOPMed
rs1233620734 CA383293294	48	A>P		No	ClinGen gnomAD
rs1430311381 CA383293261	53	F>L		No	ClinGen gnomAD
CA6356709 rs373320792	55	G>V		No	ClinGen ESP ExAC gnomAD
CA383293228 rs1389678223	57	T>I		No	ClinGen TOPMed
CA6356707 rs370109635	61	Q>E		No	ClinGen ESP ExAC gnomAD
CA6356705 rs763404863	62	R>Q		No	ClinGen ExAC gnomAD
rs770028412 CA6356703	66	P>L		No	ClinGen ExAC gnomAD
rs1185034998 CA383293165	67	K>R		No	ClinGen TOPMed gnomAD
CA6356685 rs762569166	68	D>E		No	ClinGen ExAC gnomAD
CA383293141 rs1483983822	69	P>T		No	ClinGen gnomAD
rs773557919 CA6356683	70	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA230927992 rs375860265	70	R>W		No	ClinGen ESP TOPMed gnomAD
rs1269557954 CA383293128	71	Q>R		No	ClinGen gnomAD
rs762068945 CA6356681	75	T>I		No	ClinGen ExAC gnomAD
rs533877788 CA6356680	76	H>Q		No	ClinGen ExAC gnomAD
CA383293081 rs1229930457	78	R>Q		No	ClinGen gnomAD
rs768799295 CA6356679	78	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1381493296 CA383293073	79	D>E		No	ClinGen gnomAD
rs747262351 CA230927990	82	M>L		No	ClinGen ExAC TOPMed gnomAD
CA6356677 rs780059407	82	M>T		No	ClinGen ExAC
rs747262351 CA6356678	82	M>V		No	ClinGen ExAC TOPMed gnomAD
rs777560393 CA6356674	86	N>S		No	ClinGen ExAC gnomAD
rs1311432955 CA383292983	92	G>S		No	ClinGen TOPMed
CA6356671 rs781168593	93	V>L		No	ClinGen ExAC gnomAD
rs1307535301 CA383292963	95	F>Y		No	ClinGen TOPMed
CA6356670 rs754632976	96	Q>R		No	ClinGen ExAC gnomAD
CA230927989 rs367564777	97	K>*		No	ClinGen ESP
rs946435125 CA230927988	99	C>Y		No	ClinGen Ensembl
rs766172244 CA6356668	100	M>I		No	ClinGen ExAC gnomAD
CA383292902 rs1182451453	103	A>V		No	ClinGen gnomAD
CA230927987 rs781144791	106	C>Y		No	ClinGen Ensembl
CA6356664 rs79963544 RCV000960275	107	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761068574 CA6356661	111	D>E		No	ClinGen ExAC
CA383292854 rs1322289036	111	D>G		No	ClinGen gnomAD
rs764464320 CA6356662	111	D>N		No	ClinGen ExAC gnomAD
CA383292827 rs1420377115	115	E>A		No	ClinGen TOPMed
rs374747619 CA6356658	115	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs769581808 CA6356656	121	V>A		No	ClinGen ExAC gnomAD
rs1423266564 CA383292673	135	E>D		No	ClinGen gnomAD
CA383292671 rs1308462390	136	D>N		No	ClinGen TOPMed
rs1006762106 CA230927644	136	D>V		No	ClinGen Ensembl
CA383292652 rs1591607400	138	K>N		No	ClinGen Ensembl
rs1383326121 CA383292645	139	P>L		No	ClinGen TOPMed gnomAD
rs1158324645 CA383292635	141	Q>E		No	ClinGen gnomAD
rs1168709666 CA383292633	141	Q>L		No	ClinGen gnomAD
CA383292625 rs1240022873	142	V>D		No	ClinGen TOPMed
CA383292616 rs749415333	143	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1370995655 CA383292619	143	N>S		No	ClinGen gnomAD
rs1433623061 CA383292609	144	G>E		No	ClinGen gnomAD
rs776702455 CA6356637	146	N>T		No	ClinGen ExAC gnomAD
rs138956441 CA6356636	147	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA383292593 rs1197244694	147	P>S		No	ClinGen gnomAD
rs770862948 CA6356635	148	A>P		No	ClinGen ExAC gnomAD
rs779901133 CA6356634	150	P>L		No	ClinGen ExAC gnomAD
CA6356633 rs143416500	153	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs745555780 CA6356632	153	R>H		No	ClinGen ExAC gnomAD
rs778479273 CA6356631	156	S>L		No	ClinGen ExAC gnomAD
rs1403448870 CA383292529	157	D>E		No	ClinGen gnomAD
CA230927642 rs773383456	158	Y>H		No	ClinGen Ensembl
CA230927641 rs993605600	159	F>Y		No	ClinGen TOPMed
rs142279599 RCV000203016 CA249219	162	Y>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1202004221 CA383292465	165	E>K		No	ClinGen gnomAD
COSM1297813 CA6356606 rs766647712 COSM1297812	173	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA230927539 COSM369149 rs766647712	173	S>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750489144 CA6356604	176	S>A		No	ClinGen ExAC gnomAD
rs765428803 CA6356603	178	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1246153557 CA383292372	178	P>L		No	ClinGen TOPMed gnomAD
rs765428803 CA383292376	178	P>T		No	ClinGen ExAC TOPMed gnomAD
CA383292353 rs1312521180	181	I>F		No	ClinGen TOPMed gnomAD
rs1312521180 CA383292355	181	I>V		No	ClinGen TOPMed gnomAD
CA383292325 rs1317417666	185	Y>C		No	ClinGen gnomAD
CA383292319 rs1398669637	186	Q>E		No	ClinGen gnomAD
COSM1352480 CA6356601 rs775466195 COSM1352481	187	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6356599 rs759318033	189	H>Y		No	ClinGen ExAC gnomAD
rs540929701 COSM117863 CA6356597	190	P>R	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs774022097 CA6356598	190	P>S		No	ClinGen ExAC
CA230927538 rs935426071	191	I>V		No	ClinGen Ensembl
CA383292271 rs1565374960	193	S>L		No	ClinGen Ensembl
CA6356595 rs777453971	195	E>G		No	ClinGen ExAC gnomAD
CA6356592 rs781717751	197	L>V		No	ClinGen ExAC gnomAD
rs1288986712 CA383292220	201	Y>C		No	ClinGen gnomAD
CA383292202 rs1229922877	203	N>K		No	ClinGen gnomAD
CA230927537 rs865964382	206	P>A		No	ClinGen Ensembl
rs747334621 CA6356590	206	P>L		No	ClinGen ExAC gnomAD
COSM1139681 COSM541438 CA230927536 rs1045241125	207	S>L	lung central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs758646926 CA6356588	208	V>F		No	ClinGen ExAC gnomAD
CA6356587 rs200782788	210	L>F		No	ClinGen ExAC gnomAD
CA6356586 rs765597503	210	L>P		No	ClinGen ExAC gnomAD
rs753877130 CA6356584	211	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767421717 CA6356583	213	P>R		No	ClinGen ExAC gnomAD
CA383292146 rs1431628654	213	P>T		No	ClinGen gnomAD
CA230927535 rs991134658	214	L>V		No	ClinGen TOPMed
COSM1352473 rs759420818 COSM1352472 CA383292125	216	T>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6356582 rs759420818	216	T>K		No	ClinGen ExAC gnomAD
CA6356580 rs766138089	218	T>I		No	ClinGen ExAC TOPMed gnomAD
rs766138089 CA230927533	218	T>N		No	ClinGen ExAC TOPMed gnomAD
CA230927534 rs766138089	218	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6356579 rs762773008	223	Y>H		No	ClinGen ExAC gnomAD
CA6356578 rs772842312	225	A>G		No	ClinGen ExAC
rs575765833 CA383292062	226	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575765833 CA6356577	226	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747640407 CA6356576	227	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1212406328 CA383292033	230	V>I		No	ClinGen TOPMed gnomAD
rs137970618 COSM924813 CA6356572 COSM1585498	231	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA383292027 rs137970618	231	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs746301418 CA6356571	232	T>I		No	ClinGen ExAC gnomAD
rs746301418 CA6356570	232	T>S		No	ClinGen ExAC gnomAD
CA383292015 rs1257149520	233	P>Q		No	ClinGen TOPMed
CA383292007 rs1447435637	234	D>G		No	ClinGen TOPMed gnomAD
CA6356569 rs779218558 COSM94252	235	N>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA383291978 rs1309710566	238	M>V		No	ClinGen gnomAD
CA383291946 rs1328497589	242	S>R		No	ClinGen gnomAD
rs757425068 CA6356568	242	S>R		No	ClinGen ExAC gnomAD
rs753913610 CA6356567	243	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM924812 COSM1585499 rs199815569 CA6356566	243	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6356565 rs370692228	244	G>S		No	ClinGen ESP ExAC gnomAD
CA383291916 rs1591601507	245	K>N		No	ClinGen Ensembl
CA383291912 rs1281993625	246	L>F		No	ClinGen gnomAD
CA6356539 rs779912492	246	L>P		No	ClinGen ExAC gnomAD
rs750182232 CA6356537	247	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6356535 rs373069461	248	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6356536 rs764966176	248	G>S		No	ClinGen ExAC gnomAD
CA383291901 rs373069461	248	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6356534 rs146955207	252	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs146955207 CA383291878	252	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA383291855 rs1426055153	255	I>L		No	ClinGen gnomAD
rs1426055153 CA383291854	255	I>V		No	ClinGen gnomAD
CA383291842 rs1385293024	256	E>D		No	ClinGen gnomAD
CA230927046 rs547347627	258	Y>C		No	ClinGen Ensembl
rs1467641434 CA383291817	260	S>G		No	ClinGen TOPMed
CA6356531 rs775143735	261	C>G		No	ClinGen ExAC gnomAD
CA383291809 rs775143735	261	C>S		No	ClinGen ExAC gnomAD
rs141384910 CA6356530	263	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs760141484 CA6356529	263	R>H		No	ClinGen ExAC TOPMed gnomAD
CA383291783 rs1343073921	265	T>A		No	ClinGen Ensembl
rs1343073921 CA383291782	265	T>P		No	ClinGen Ensembl
rs1223630767 CA383291780	265	T>S		No	ClinGen gnomAD
rs936263819 CA383291773	266	Q>L		No	ClinGen gnomAD
CA230927045 rs936263819	266	Q>P		No	ClinGen gnomAD
CA6356524 rs770064256	270	S>G		No	ClinGen ExAC gnomAD
CA6356523 rs748164133	271	Q>P		No	ClinGen ExAC gnomAD
rs1383181873 CA383291722	273	S>F		No	ClinGen gnomAD
rs758287055 CA6356521	275	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6356520 rs554976351	276	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1407325737 CA383291684	279	R>C		No	ClinGen gnomAD
rs1314535450 CA383291683	279	R>H		No	ClinGen TOPMed
rs145206378 CA383291631	286	F>L		No	ClinGen ESP ExAC gnomAD
CA6356517 rs753726341	287	D>N		No	ClinGen ExAC TOPMed
CA383291622 rs1329372987	288	S>P		No	ClinGen TOPMed
rs1170706978 CA383291598	291	Y>S		No	ClinGen gnomAD
rs370823358 CA230927042	292	P>A		No	ClinGen gnomAD
rs1201251859 CA383291589	292	P>L		No	ClinGen gnomAD
rs1201251859 CA383291591	292	P>Q		No	ClinGen gnomAD
CA6356514 rs370332724	294	A>T		No	ClinGen ESP ExAC TOPMed
CA383291570 rs1221854026	296	P>S		No	ClinGen gnomAD
rs767112761 CA6356513	298	H>R		No	ClinGen ExAC gnomAD
rs1591601223 CA383291547	299	K>T		No	ClinGen Ensembl
CA383291537 rs1228404093	301	K>E		No	ClinGen gnomAD
CA383291532 rs1307091022	301	K>M		No	ClinGen gnomAD
rs1293922369 CA383291530	301	K>N		No	ClinGen TOPMed gnomAD
rs1225665990 CA383291506	305	K>R		No	ClinGen gnomAD
CA383291476 rs1174010021	309	R>Q		No	ClinGen TOPMed
rs766964257 CA6356510 COSM1585500 COSM924811	309	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6356509 rs763167051	311	R>C		No	ClinGen ExAC gnomAD
COSM122904 CA230927041 rs917270554	311	R>H	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA383291451 rs1258423522	313	D>E		No	ClinGen gnomAD
rs773626156 CA6356508	315	N>S		No	ClinGen ExAC gnomAD
rs769966830 CA6356507	317	D>E		No	ClinGen ExAC gnomAD
rs748395139 CA6356506	318	K>E		No	ClinGen ExAC gnomAD
rs1178328464 CA383291408	320	V>I		No	ClinGen gnomAD
CA383291377 rs1224132048	325	A>T		No	ClinGen Ensembl
CA383291350 rs1428579363	329	Y>C		No	ClinGen gnomAD
CA230925275 rs200913587	333	G>R		No	ClinGen 1000Genomes
CA383291298 rs1328344597	335	I>V		No	ClinGen TOPMed
rs1591585737 CA383291239	343	E>G		No	ClinGen Ensembl
CA383291233 rs1410498545	344	L>S		No	ClinGen gnomAD
CA383291176 rs1334454051	352	S>C		No	ClinGen gnomAD
CA6356480 rs748010258	359	D>G		No	ClinGen ExAC gnomAD
rs1565362524 CA383290998	374	R>K		No	ClinGen Ensembl
CA230925187 rs201484607	377	K>E		No	ClinGen 1000Genomes
rs1174740444 CA383290747	406	A>V		No	ClinGen TOPMed
COSM1475248 rs1222659688 COSM428689 CA383290729	409	R>H	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA383290702 rs1287353291	413	R>C		No	ClinGen gnomAD
CA6356450 rs760985718	420	S>N		No	ClinGen ExAC gnomAD
rs1347332570 CA383290619	425	T>N		No	ClinGen gnomAD
CA383290616 rs1221400027	426	P>S		No	ClinGen TOPMed
rs767688279 CA6356448	427	E>K		No	ClinGen ExAC gnomAD
COSM1561528 COSM1561527 CA6356446 rs774575276	431	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1194190 rs1411887000 CA383290578 COSM1194191	432	M>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs769810344 CA383290559	434	D>E		No	ClinGen ExAC TOPMed gnomAD
CA383290561 rs1230128019	434	D>G		No	ClinGen TOPMed
rs954510165 CA230925185	435	V>I		No	ClinGen TOPMed gnomAD
rs768471010 CA6356442	440	D>N		No	ClinGen ExAC TOPMed gnomAD
rs375030371 CA6356440	441	E>K		No	ClinGen ESP ExAC gnomAD
rs1438048847 CA383290515	441	E>V		No	ClinGen gnomAD

No associated diseases with P14921

4 regional properties for P14921

Type	Name	Position	InterPro Accession
domain	Ets domain	334 - 419	IPR000418
domain	Pointed domain	51 - 136	IPR003118
domain	Protein C-ets-1, pointed domain	51 - 138	IPR041886
domain	Ets1, N-terminal flanking region of Ets domain	148 - 331	IPR045688

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm	Delocalizes from nucleus to cytoplasm when coexpressed with isoform Ets-1 p27
PANTHER Family	PTHR11849	ETS
PANTHER Subfamily	PTHR11849:SF209	PROTEIN C-ETS-1
PANTHER Protein Class	DNA-binding transcription factor helix-turn-helix transcription factor winged helix/forkhead transcription factor
PANTHER Pathway Category	PDGF signaling pathway Ets Ras Pathway Ets VEGF signaling pathway Ets Angiogenesis Ets

4 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.

10 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
identical protein binding	Binding to an identical protein or proteins.
nuclear receptor coactivator activity	A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
transcription cis-regulatory region binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.
transcription corepressor binding	Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery.

22 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cell motility	Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another.
immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
negative regulation of cell cycle	Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
PML body organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of PML bodies, a class of nuclear body; they react against SP100 auto-antibodies (PML = promyelocytic leukemia).
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of blood vessel endothelial cell migration	Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
positive regulation of cellular component movement	OBSOLETE. Any process that activates or increases the frequency, rate or extent of the movement of a cellular component.
positive regulation of endothelial cell migration	Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
positive regulation of erythrocyte differentiation	Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of inflammatory response	Any process that activates or increases the frequency, rate or extent of the inflammatory response.
positive regulation of leukocyte adhesion to vascular endothelial cell	Any process that activates or increases the frequency, rate or extent of leukocyte adhesion to vascular endothelial cell.
positive regulation of pri-miRNA transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of microRNA (miRNA) gene transcription.
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, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
regulation of angiogenesis	Any process that modulates the frequency, rate or extent of angiogenesis.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to antibiotic	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

41 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A1A4L6	ETS2	Protein C-ets-2	Bos taurus (Bovine)	SS
Q2KIC2	ETV1	ETS translocation variant 1	Bos taurus (Bovine)	SS
P10157	ETS2	Protein C-ets-2	Gallus gallus (Chicken)	SS
Q90837	ERG	Transcriptional regulator Erg	Gallus gallus (Chicken)	SS
P13474	ETS1	Transforming protein p54/c-ets-1	Gallus gallus (Chicken)	SS
P15062	ETS1	Transforming protein p68/c-ets-1	Gallus gallus (Chicken)	SS
A2T762	ETV3	ETS translocation variant 3	Pan troglodytes (Chimpanzee)	PR
Q04688	Ets97D	DNA-binding protein Ets97D	Drosophila melanogaster (Fruit fly)	PR
Q9Y603	ETV7	Transcription factor ETV7	Homo sapiens (Human)	SS
P41212	ETV6	Transcription factor ETV6	Homo sapiens (Human)	SS
P78545	ELF3	ETS-related transcription factor Elf-3	Homo sapiens (Human)	SS
Q9UKW6	ELF5	ETS-related transcription factor Elf-5	Homo sapiens (Human)	EV
P32519	ELF1	ETS-related transcription factor Elf-1	Homo sapiens (Human)	PR
Q99607	ELF4	ETS-related transcription factor Elf-4	Homo sapiens (Human)	PR
Q06546	GABPA	GA-binding protein alpha chain	Homo sapiens (Human)	SS
O95238	SPDEF	SAM pointed domain-containing Ets transcription factor	Homo sapiens (Human)	PR
P50548	ERF	ETS domain-containing transcription factor ERF	Homo sapiens (Human)	PR
P41162	ETV3	ETS translocation variant 3	Homo sapiens (Human)	PR
P11308	ERG	Transcriptional regulator ERG	Homo sapiens (Human)	EV
P43268	ETV4	ETS translocation variant 4	Homo sapiens (Human)	EV
P41161	ETV5	ETS translocation variant 5	Homo sapiens (Human)	SS
P50549	ETV1	ETS translocation variant 1	Homo sapiens (Human)	EV
P41970	ELK3	ETS domain-containing protein Elk-3	Homo sapiens (Human)	SS
P28324	ELK4	ETS domain-containing protein Elk-4	Homo sapiens (Human)	EV
P19419	ELK1	ETS domain-containing protein Elk-1	Homo sapiens (Human)	EV
P15036	ETS2	Protein C-ets-2	Homo sapiens (Human)	EV
P41971	Elk3	ETS domain-containing protein Elk-3	Mus musculus (Mouse)	EV
Q00422	Gabpa	GA-binding protein alpha chain	Mus musculus (Mouse)	EV
P41969	Elk1	ETS domain-containing protein Elk-1	Mus musculus (Mouse)	PR
P28322	Etv4	ETS translocation variant 4	Mus musculus (Mouse)	SS
P15037	Ets2	Protein C-ets-2	Mus musculus (Mouse)	SS
P70459	Erf	ETS domain-containing transcription factor ERF	Mus musculus (Mouse)	PR
Q9CXC9	Etv5	ETS translocation variant 5	Mus musculus (Mouse)	SS
P41158	Elk4	ETS domain-containing protein Elk-4	Mus musculus (Mouse)	PR
P41164	Etv1	ETS translocation variant 1	Mus musculus (Mouse)	SS
P81270	Erg	Transcriptional regulator ERG	Mus musculus (Mouse)	SS
P27577	Ets1	Protein C-ets-1	Mus musculus (Mouse)	EV
A4GTP4	Elk1	ETS domain-containing protein Elk-1	Rattus norvegicus (Rat)	PR
P41156	Ets1	Protein C-ets-1	Rattus norvegicus (Rat)	SS
Q9PUQ1	etv4	ETS translocation variant 4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
A3FEM2	fev	Protein FEV	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MKAAVDLKPT	LTIIKTEKVD	LELFPSPDME	CADVPLLTPS	SKEMMSQALK	ATFSGFTKEQ
70	80	90	100	110	120
QRLGIPKDPR	QWTETHVRDW	VMWAVNEFSL	KGVDFQKFCM	NGAALCALGK	DCFLELAPDF
130	140	150	160	170	180
VGDILWEHLE	ILQKEDVKPY	QVNGVNPAYP	ESRYTSDYFI	SYGIEHAQCV	PPSEFSEPSF
190	200	210	220	230	240
ITESYQTLHP	ISSEELLSLK	YENDYPSVIL	RDPLQTDTLQ	NDYFAIKQEV	VTPDNMCMGR
250	260	270	280	290	300
TSRGKLGGQD	SFESIESYDS	CDRLTQSWSS	QSSFNSLQRV	PSYDSFDSED	YPAALPNHKP
310	320	330	340	350	360
KGTFKDYVRD	RADLNKDKPV	IPAAALAGYT	GSGPIQLWQF	LLELLTDKSC	QSFISWTGDG
370	380	390	400	410	420
WEFKLSDPDE	VARRWGKRKN	KPKMNYEKLS	RGLRYYYDKN	IIHKTAGKRY	VYRFVCDLQS
430	440
LLGYTPEELH	AMLDVKPDAD	E