AiPD: Autoinhibited Protein Database

P78545

Gene name	ELF3
Protein name	ETS-related transcription factor Elf-3
Names	E74-like factor 3, Epithelial-restricted with serine box, Epithelium-restricted Ets protein ESX, Epithelium-specific Ets transcription factor 1, ESE-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1999
EC number
Protein Class

Descriptions

Elf3 is an epithelially restricted member of the ETS transcription factor family, which is involved in a wide range of normal cellular processes. According to a study with mouse Elf3, three regions of Elf3, in addition to its DNA binding domain (ETS domain), influence Elf3 binding to DNA, including the transactivation(TAD) domain that behaves as an autoinhibitory domain. The TAD domain in Elf3 interacts with the DNA-binding Ets domain and thereby inhibits DNA binding. The residues flanking the N- and C-terminal sides of the ETS domain of Elf3 are crucial for its binding to DNA. Deletion of N-terminal region displayed enhanced binding compared with the ability of full-length Elf3 to bind to DNA. interacts with the DNA-binding Ets domain and thereby inhibits the DNA binding of Ets domain and deletion of N-terminal region displayed enhanced binding compared with the ability of full-length Elf3 to bind to DNA.

Autoinhibitory domains (AIDs)

130-159 (TAD domain) SS

Target domain	272-359 (Ets domain)
Relief mechanism	Partner binding
Assay

AID

130-159 (TAD domain)

Target domain

272-359 (Ets domain)

Relief mechanism

Partner binding (Binding of partner proteins to either TAD domain or Ets domain)

Assay

Accessory elements

No accessory elements

References

Kopp JL et al. (2007) "Different domains of the transcription factor ELF3 are required in a promoter-specific manner and multiple domains control its binding to DNA", The Journal of biological chemistry, 282, 3027-41

Green SM et al. (2010) "DNA binding by the ETS protein TEL (ETV6) is regulated by autoinhibition and self-association", The Journal of biological chemistry, 285, 18496-504

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

Buchwalter G et al. (2004) "Ets ternary complex transcription factors", Gene, 324, 1-14

Shore P et al. (1996) "Determinants of DNA-binding specificity of ETS-domain transcription factors", Molecular and cellular biology, 16, 3338-49

Dalton S et al. (1992) "Characterization of SAP-1, a protein recruited by serum response factor to the c-fos serum response element", Cell, 68, 597-612

Currie SL et al. (2017) "Structured and disordered regions cooperatively mediate DNA-binding autoinhibition of ETS factors ETV1, ETV4 and ETV5", Nucleic acids research, 45, 2223-2241

Regan MC et al. (2013) "Structural and dynamic studies of the transcription factor ERG reveal DNA binding is allosterically autoinhibited", Proceedings of the National Academy of Sciences of the United States of America, 110, 13374-9

Oettgen P et al. (1999) "Characterization of ESE-2, a novel ESE-1-related Ets transcription factor that is restricted to glandular epithelium and differentiated keratinocytes", The Journal of biological chemistry, 274, 29439-52

Autoinhibited structure

Activated structure

2 structures for P78545

Entry ID	Method	Resolution	Chain	Position	Source
2E8P	NMR	-	A	48-132	PDB
AF-P78545-F1	Predicted				AlphaFoldDB

253 variants for P78545

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1249931805 CA344227684	3	A>S		No	ClinGen TOPMed
rs1445321449 CA344227700	4	T>I		No	ClinGen gnomAD
CA1329572 rs143610955	5	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1383641293 CA344227706	5	C>Y		No	ClinGen TOPMed gnomAD
CA1329573 rs375019397	7	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA35480338 rs915660829	8	S>T		No	ClinGen TOPMed
rs1301046818 COSM902279 CA344227753 COSM902278	9	N>S	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1329575 rs749258420	12	S>G		No	ClinGen ExAC gnomAD
rs984694570 CA35480345	12	S>R		No	ClinGen TOPMed gnomAD
rs1558272880 CA344227803	13	N>K		No	ClinGen Ensembl
CA344227797 rs1299100838	13	N>Y		No	ClinGen TOPMed
rs534418238 CA35480346	16	S>R		No	ClinGen Ensembl
CA344227848 rs1326760178	17	A>V		No	ClinGen TOPMed gnomAD
rs1452741180 CA344227859	18	M>I		No	ClinGen gnomAD
CA344227875 rs1313690288	20	S>R		No	ClinGen gnomAD
CA1329577 rs773009663	21	S>A		No	ClinGen ExAC gnomAD
CA1329578 rs150188692	21	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1329580 rs776310912	24	S>T		No	ClinGen ExAC gnomAD
rs759206519 CA1329581	26	L>P		No	ClinGen ExAC
CA1329582 rs764832150	31	P>A		No	ClinGen ExAC gnomAD
rs764832150 CA344227979	31	P>S		No	ClinGen ExAC gnomAD
CA1329583 rs774988775	33	A>S		No	ClinGen ExAC TOPMed gnomAD
rs774988775 CA344227994	33	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1571658944 CA344228005	34	T>A		No	ClinGen Ensembl
rs762316328 CA1329584	37	A>D		No	ClinGen ExAC TOPMed gnomAD
rs762316328 CA344228042	37	A>V		No	ClinGen ExAC TOPMed gnomAD
rs757683840 CA1329587	38	D>E		No	ClinGen ExAC gnomAD
rs752009282 CA1329586	38	D>N		No	ClinGen ExAC gnomAD
CA344228058 rs1194149105	39	D>N		No	ClinGen gnomAD
rs1186983039 CA344228079	40	L>F		No	ClinGen TOPMed
rs750771283 CA1329589	43	T>S		No	ClinGen ExAC gnomAD
CA1329591 rs756407581	45	S>C		No	ClinGen ExAC gnomAD
CA344228141 rs1470229690	47	P>L		No	ClinGen gnomAD
CA344228246 rs1284898567	53	G>V		No	ClinGen gnomAD
CA1329592 rs780362832	54	T>S		No	ClinGen ExAC gnomAD
rs976723834 CA35481110	57	A>T		No	ClinGen Ensembl
CA35481115 rs923580373	57	A>V		No	ClinGen Ensembl
rs757193571 CA1329614	59	W>L		No	ClinGen ExAC
CA344228468 rs1453377924	61	G>R		No	ClinGen TOPMed
CA344228489 rs1281932149	62	E>K		No	ClinGen gnomAD
rs781051360 CA1329615	65	Q>R		No	ClinGen ExAC gnomAD
rs368687091 CA35481121	66	F>S		No	ClinGen ESP TOPMed
rs745722163 CA1329616	68	S>L		No	ClinGen ExAC gnomAD
CA1329618 rs35303464	70	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141663834 CA1329619	70	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1297218014 CA344228665	72	V>I		No	ClinGen TOPMed
CA1329622 rs761346206	77	S>N		No	ClinGen ExAC
rs772761140 CA1329623	78	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1329626 rs556702229	86	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1329627 rs754180574	86	D>V		No	ClinGen ExAC
rs148003991 CA1329629	87	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344228973 rs752734750	88	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1002581332 CA35481193	89	A>T		No	ClinGen TOPMed
CA35481200 rs141645774	90	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1329631 rs141645774	90	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200652215 CA1329632	92	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1329633 rs750329636	94	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755955632 CA1329634	95	C>S		No	ClinGen ExAC TOPMed gnomAD
CA344229075 rs755955632	95	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs779738198 CA1329635	96	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1248183499 CA344229136	99	G>V		No	ClinGen gnomAD
CA1329639 rs58166377 COSM1178535 COSM1178536	104	N>S	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA344229202 rs58166377	104	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1481604346 CA344229221	105	C>F		No	ClinGen gnomAD
CA344229255 rs1196292458	108	E>K		No	ClinGen gnomAD
rs761284995 CA1329642	111	R>C		No	ClinGen ExAC TOPMed gnomAD
CA344229300 rs1184837452	111	R>H		No	ClinGen TOPMed gnomAD
rs1290539287 CA344229308	112	L>V		No	ClinGen TOPMed
CA344229337 rs1385496708	114	F>C		No	ClinGen TOPMed gnomAD
CA1329643 rs771427584	116	P>S		No	ClinGen ExAC gnomAD
CA344229374 rs1298110845	118	G>R		No	ClinGen gnomAD
CA1329647 rs151176873	121	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151176873 CA1329646	121	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1329648 rs763061377	122	H>Q		No	ClinGen ExAC gnomAD
rs1015762509 CA35481292	122	H>R		No	ClinGen TOPMed
CA1329649 rs764141139	123	A>D		No	ClinGen ExAC gnomAD
CA344229443 rs1244025029	123	A>S		No	ClinGen gnomAD
CA1329651 rs756079277	126	R>*		No	ClinGen ExAC TOPMed gnomAD
CA35481297 rs79918642	126	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1329652 rs79918642	126	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377649003 CA1329654	128	L>F		No	ClinGen ESP ExAC gnomAD
CA1329673 rs141368992	129	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA344229527 rs1485831006	129	T>P		No	ClinGen TOPMed
rs1377707019 CA344229630	132	S>F		No	ClinGen gnomAD
rs761937653 CA1329674	135	E>D		No	ClinGen ExAC TOPMed gnomAD
CA344229696 rs1430234983	137	S>I		No	ClinGen gnomAD
CA344229733 rs1446392345	139	I>T		No	ClinGen gnomAD
rs1398893368 CA344229752	140	I>M		No	ClinGen TOPMed
rs1307339604 CA344229765	141	E>V		No	ClinGen TOPMed gnomAD
CA1329680 rs758126415	145	K>E		No	ClinGen ExAC gnomAD
rs1217001821 CA344229840	146	D>G		No	ClinGen gnomAD
rs559752921 CA35481633	147	G>S		No	ClinGen Ensembl
rs1369179724 CA344229875	148	M>I		No	ClinGen TOPMed
rs1167675908 CA344229877	149	A>T		No	ClinGen TOPMed
rs777508355 CA1329681	149	A>V		No	ClinGen ExAC gnomAD
rs1474528592 CA344229902	150	F>L		No	ClinGen TOPMed
rs373408742 CA1329682	151	Q>H		No	ClinGen ESP ExAC gnomAD
CA344229942 rs1233725940	153	A>T		No	ClinGen TOPMed gnomAD
rs1284407980 CA344229951	153	A>V		No	ClinGen gnomAD
CA1329683 rs756789263	154	L>V		No	ClinGen ExAC TOPMed gnomAD
CA35481680 rs143878162	157	G>R		No	ClinGen ESP
CA344230005 rs896915200	158	P>A		No	ClinGen TOPMed gnomAD
rs1571660635 CA344230013	158	P>L		No	ClinGen Ensembl
CA35481695 rs896915200	158	P>S		No	ClinGen TOPMed gnomAD
CA344230090 rs1571660853	160	D>A		No	ClinGen Ensembl
rs55729978 CA35481895	162	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs55729978 CA1329706 COSM425020 COSM425019	162	G>D	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA344230151 rs1433358160	164	P>R		No	ClinGen gnomAD
rs571564781 CA35481904	167	Q>R		No	ClinGen Ensembl
CA344230200 rs1402974626	168	E>K		No	ClinGen TOPMed
rs779151797 CA1329708	171	D>E		No	ClinGen ExAC TOPMed gnomAD
CA35481905 rs748421327	172	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1329709 rs748421327	172	D>N		No	ClinGen ExAC TOPMed gnomAD
rs773345960 CA1329712	173	G>R		No	ClinGen ExAC TOPMed gnomAD
rs773345960 CA1329711	173	G>S		No	ClinGen ExAC TOPMed gnomAD
CA344231397 rs1196877377	175	Q>*		No	ClinGen gnomAD
COSM1194226 CA1329714 rs202066550 COSM1194225	177	S>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA344231425 rs1245023956	177	S>T		No	ClinGen gnomAD
CA1329716 rs553353681	178	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1169381539 CA344231456	180	H>P		No	ClinGen gnomAD
rs751264235 CA1329717	180	H>Q		No	ClinGen ExAC gnomAD
rs767015572 CA1329720	181	P>L		No	ClinGen ExAC gnomAD
rs767015572 CA1329719	181	P>R		No	ClinGen ExAC gnomAD
rs761561796 CA1329718	181	P>T		No	ClinGen ExAC gnomAD
CA344231470 rs780575188	182	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1329722 rs780575188	182	G>S		No	ClinGen ExAC TOPMed gnomAD
CA344231480 rs1282696947	183	S>G		No	ClinGen TOPMed
rs754318763 CA1329723	184	C>S		No	ClinGen ExAC TOPMed gnomAD
rs755424217 CA1329724	184	C>Y		No	ClinGen ExAC gnomAD
rs1465170014 CA344231507	185	G>D		No	ClinGen gnomAD
rs748393735 CA1329726	186	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM1748080 CA1329728 rs777842676 COSM1748081	187	G>E	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1329727 rs151290080	187	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs747179069 CA1329729	188	A>P		No	ClinGen ExAC gnomAD
rs771105129 CA1329730	189	P>L		No	ClinGen ExAC gnomAD
CA344231537 rs1324378932	189	P>S		No	ClinGen gnomAD
rs1318324153 CA344231551	190	S>F		No	ClinGen TOPMed
CA1329732 rs763007304	191	P>S		No	ClinGen ExAC
CA344231562 rs774203623	192	G>R		No	ClinGen ExAC gnomAD
rs774203623 CA1329734	192	G>S		No	ClinGen ExAC gnomAD
CA1329735 rs146924886	193	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs536186083 CA1329737	195	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370916337 CA1329738	196	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs765892835 CA1329739	197	S>P		No	ClinGen ExAC TOPMed gnomAD
CA344231625 rs879165146	198	T>A		No	ClinGen gnomAD
rs1399670030 CA344231630	198	T>I		No	ClinGen TOPMed gnomAD
CA35482120 rs879165146	198	T>P		No	ClinGen gnomAD
rs755479338 CA1329741	199	A>T		No	ClinGen ExAC TOPMed gnomAD
rs967011791 CA35482156	200	G>R		No	ClinGen TOPMed gnomAD
rs559331442 CA1329760	201	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs41270965 CA1329762	205	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1329761 rs776131707	205	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1329764 rs753112718	206	S>N		No	ClinGen ExAC gnomAD
CA344231737 rs1265098439	206	S>R		No	ClinGen gnomAD
rs765838091 CA1329763	206	S>R		No	ClinGen ExAC gnomAD
CA1329765 rs758847922	208	H>Y		No	ClinGen ExAC gnomAD
rs751933012 CA1329767	213	G>R		No	ClinGen ExAC TOPMed gnomAD
CA35482422 rs751933012	213	G>S		No	ClinGen ExAC TOPMed gnomAD
CA344231817 rs1165917036	214	G>V		No	ClinGen gnomAD
rs372891125 CA1329770	217	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA344231858 rs1216687549	218	D>V		No	ClinGen gnomAD
rs756147031 CA1329771	219	L>P		No	ClinGen ExAC gnomAD
CA35482471 rs925605985	220	D>Y		No	ClinGen Ensembl
CA344231897 rs1399185745	222	T>S		No	ClinGen gnomAD
rs748056285 CA1329773	225	K>T		No	ClinGen ExAC gnomAD
rs772992282 CA1329775	228	P>S		No	ClinGen ExAC gnomAD
CA1329777 rs150861098	229	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1329778 rs144239428	230	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA344231974 rs144239428	230	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA1329800 rs762468726	231	G>D		No	ClinGen ExAC
CA344232025 rs1300635147	232	F>L		No	ClinGen TOPMed
COSM902281 rs140187152 CA35482752 COSM902280	233	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs769104884 CA1329801	233	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769104884 CA1329802	233	R>L		No	ClinGen ExAC TOPMed gnomAD
CA344232041 rs1164093461	234	D>N		No	ClinGen gnomAD
CA344232086 rs1290635173	237	K>N		No	ClinGen TOPMed
rs1471010871 CA344232082	237	K>T		No	ClinGen gnomAD
rs1359714412 CA344232093	238	G>E		No	ClinGen TOPMed
CA344232088 rs1176833301	238	G>R		No	ClinGen TOPMed gnomAD
rs1176833301 CA344232091	238	G>W		No	ClinGen TOPMed gnomAD
COSM1626746 COSM1626745 CA344232098 rs1464712552	239	D>N	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs762312798 CA1329803	239	D>V		No	ClinGen ExAC gnomAD
rs368957445 CA35482779	242	H>N		No	ClinGen ESP
rs145825104 CA1329805	242	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141225543 CA1329806	243	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1393273598 CA344232138	243	G>R		No	ClinGen TOPMed
rs1393273598 CA344232140	243	G>W		No	ClinGen TOPMed
CA344232157 rs1429255331	244	K>N		No	ClinGen TOPMed
CA1329808 rs566904595	245	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA1329807 rs766561608	245	R>W		No	ClinGen ExAC TOPMed gnomAD
CA344232178 rs1359638271	247	R>*		No	ClinGen gnomAD
COSM1185697 COSM1185698 rs755079997 CA1329809	247	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1014399334 CA35482868	249	R>Q		No	ClinGen TOPMed
rs777727755 CA1329810	249	R>W		No	ClinGen ExAC gnomAD
rs1258691938 CA344232205	251	R>*		No	ClinGen TOPMed
CA344232207 rs1398134258	251	R>Q		No	ClinGen TOPMed gnomAD
CA1329814 rs745612708	258	W>R		No	ClinGen ExAC gnomAD
rs1231879927 CA344232350	259	D>E		No	ClinGen TOPMed
rs1216285110 CA344232343	259	D>G		No	ClinGen gnomAD
CA344232335 rs1277815735	259	D>N		No	ClinGen TOPMed
CA1329815 rs769346374	260	C>R		No	ClinGen ExAC TOPMed gnomAD
CA1329816 rs779747541	262	E>K		No	ClinGen ExAC gnomAD
CA35482927 rs984022539	266	S>N		No	ClinGen TOPMed gnomAD
rs1339557452 CA344232454	267	K>E		No	ClinGen TOPMed
CA1329819 rs775051484	268	H>D		No	ClinGen ExAC gnomAD
rs1361341878 CA344232478	268	H>L		No	ClinGen gnomAD
COSM239693 rs374568591 CA1329847	269	A>V	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1329849 rs549132954	271	R>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1571662320 CA344232685	278	F>V		No	ClinGen Ensembl
CA1329854 rs149307595	290	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA1329856 rs757948712	295	W>*		No	ClinGen ExAC gnomAD
rs868080326 CA35483506	296	E>K		No	ClinGen Ensembl
CA1329857 rs778191104	298	R>P		No	ClinGen ExAC gnomAD
rs1328884899 CA344232989	298	R>W		No	ClinGen gnomAD
CA35483543 rs968195488	299	H>D		No	ClinGen TOPMed
CA1329859 rs200037801	302	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1329862 rs149305892	307	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1329863 rs775686420	308	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1293525214 CA344233127	309	E>K		No	ClinGen Ensembl
rs138364957 CA35483624	314	L>R		No	ClinGen ESP TOPMed
VAR_048945 CA35483655 rs1135542	317	Q>K		No	ClinGen UniProt Ensembl dbSNP
rs1236669171 CA344233268	318	K>R		No	ClinGen gnomAD
CA344233296 rs1195754471	320	K>R		No	ClinGen TOPMed gnomAD
rs1424176183 CA344233331	322	S>N		No	ClinGen gnomAD
rs1167867815 CA344233399	327	E>K		No	ClinGen gnomAD
CA344233437 rs1403955742	329	L>P		No	ClinGen gnomAD
rs1414658506 CA344233458	331	R>Q		No	ClinGen gnomAD
CA1329870 rs759399035	333	M>T		No	ClinGen ExAC gnomAD
CA1329892 rs763596127	339	R>Q		No	ClinGen ExAC gnomAD
rs762671088 CA1329891	339	R>W		No	ClinGen ExAC TOPMed gnomAD
rs751139092 CA344234492	340	E>K		No	ClinGen ExAC gnomAD
rs751139092 CA1329893	340	E>Q		No	ClinGen ExAC gnomAD
CA35486680 rs949111193	344	R>W		No	ClinGen gnomAD
CA35486695 rs917623772	348	R>G		No	ClinGen TOPMed
CA1329896 rs750909151	348	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs917623772 CA344234543	348	R>W		No	ClinGen TOPMed
rs756566923 CA1329897	349	R>*		No	ClinGen ExAC gnomAD
CA1329898 COSM3356491 COSM3356492 rs780431767	349	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1458867390 CA344234554	350	L>R		No	ClinGen gnomAD
CA344234555 rs1300332665	351	V>I		No	ClinGen TOPMed
CA344234623 rs1167293860	360	G>S		No	ClinGen gnomAD
rs1046290932 CA35486716	361	W>R		No	ClinGen Ensembl
rs1177346797 CA344234665	365	E>D		No	ClinGen TOPMed
CA35486718 rs753108982	366	V>F		No	ClinGen ExAC gnomAD
CA1329902 rs753108982	366	V>I		No	ClinGen ExAC gnomAD
CA344234678 rs1162948580	368	Q>*		No	ClinGen gnomAD
CA344234681 rs1402542887	368	Q>R		No	ClinGen gnomAD
CA1329904 rs768235554	370	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1329903 COSM1683061 rs748296702 COSM1683062	370	R>W	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1329905 rs773375572	371	N>K		No	ClinGen ExAC gnomAD
rs745830330 CA1329907	372	N>G		No	ClinGen ExAC TOPMed gnomAD
CA1329906 rs745830330	372	N>R		No	ClinGen ExAC TOPMed gnomAD
CA344234707 rs1314587735	372	N>W		No	ClinGen gnomAD

No associated diseases with P78545

3 regional properties for P78545

Type	Name	Position	InterPro Accession
domain	Ets domain	272 - 359	IPR000418
domain	Pointed domain	46 - 132	IPR003118
domain	ETS-related transcription factor Elf-3, pointed domain	53 - 132	IPR042693

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	Localizes to the cytoplasm where it has been shown to transform MCF-12A mammary epithelial cells via a novel cytoplasmic mechanism Also transiently expressed and localized to the nucleus where it induces apoptosis in non-transformed breast epithelial cells MCF-10A and MCF-12A via a transcription-dependent mechanism
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.

5 GO annotations of molecular function

Name	Definition
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.
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.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

10 GO annotations of biological process

Name	Definition
blastocyst development	The process whose specific outcome is the progression of the blastocyst over time, from its formation to the mature structure. The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm.
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.
epithelial cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium.
extracellular matrix organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
mammary gland involution	The tissue remodeling that removes differentiated mammary epithelia during weaning.
negative regulation of transcription, DNA-templated	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated 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.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
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).

25 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58DT0	ELF5	ETS-related transcription factor Elf-5	Bos taurus (Bovine)	SS
Q0VC65	ETV6	Transcription factor ETV6	Bos taurus (Bovine)	SS
Q9Y603	ETV7	Transcription factor ETV7	Homo sapiens (Human)	SS
P41212	ETV6	Transcription factor ETV6	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
P14921	ETS1	Protein C-ets-1	Homo sapiens (Human)	EV
Q8VDK3	Elf5	ETS-related transcription factor Elf-5	Mus musculus (Mouse)	SS
Q60775	Elf1	ETS-related transcription factor Elf-1	Mus musculus (Mouse)	PR
P97360	Etv6	Transcription factor ETV6	Mus musculus (Mouse)	EV
Q9JHC9	Elf2	ETS-related transcription factor Elf-2	Mus musculus (Mouse)	PR
Q9Z2U4	Elf4	ETS-related transcription factor Elf-4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAATCEISNI	FSNYFSAMYS	SEDSTLASVP	PAATFGADDL	VLTLSNPQMS	LEGTEKASWL
70	80	90	100	110	120
GEQPQFWSKT	QVLDWISYQV	EKNKYDASAI	DFSRCDMDGA	TLCNCALEEL	RLVFGPLGDQ
130	140	150	160	170	180
LHAQLRDLTS	SSSDELSWII	ELLEKDGMAF	QEALDPGPFD	QGSPFAQELL	DDGQQASPYH
190	200	210	220	230	240
PGSCGAGAPS	PGSSDVSTAG	TGASRSSHSS	DSGGSDVDLD	PTDGKLFPSD	GFRDCKKGDP
250	260	270	280	290	300
KHGKRKRGRP	RKLSKEYWDC	LEGKKSKHAP	RGTHLWEFIR	DILIHPELNE	GLMKWENRHE
310	320	330	340	350	360
GVFKFLRSEA	VAQLWGQKKK	NSNMTYEKLS	RAMRYYYKRE	ILERVDGRRL	VYKFGKNSSG
370
WKEEEVLQSR	N