AiPD: Autoinhibited Protein Database

Q6GPH4

Gene name	XAF1 (BIRC4BP, XIAPAF1)
Protein name	XIAP-associated factor 1
Names	BIRC4-binding protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54739
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

149-284 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

149-284 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

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

Autoinhibited structure

Activated structure

2 structures for Q6GPH4

Entry ID	Method	Resolution	Chain	Position	Source
2LXW	NMR	-	A	251-301	PDB
AF-Q6GPH4-F1	Predicted				AlphaFoldDB

277 variants for Q6GPH4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8331930 rs756198195	3	G>A		No	ClinGen ExAC TOPMed gnomAD
CA8331931 rs777880139	4	D>A		No	ClinGen ExAC gnomAD
rs753822335 CA8331933	6	S>L		No	ClinGen ExAC TOPMed gnomAD
CA287380723 rs764380095	7	V>G		No	ClinGen Ensembl
CA397742099 rs1172059352	7	V>L		No	ClinGen gnomAD
CA397742122 rs1597705583	8	C>R		No	ClinGen Ensembl
TCGA novel	10	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287380732 rs1031004046	11	C>R		No	ClinGen TOPMed
CA287382542 rs764372061	12	K>E		No	ClinGen Ensembl
rs201546164 CA8331964	12	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA397743054 rs1209514482	14	H>R		No	ClinGen gnomAD
rs1251352684 CA397743081	16	V>L		No	ClinGen gnomAD
rs1029123412 CA287382562	19	N>D		No	ClinGen TOPMed gnomAD
CA8331965 rs772419962	19	N>S		No	ClinGen ExAC
CA397743178 rs1427197921	20	F>L		No	ClinGen gnomAD
rs775948199 CA8331966	21	T>S		No	ClinGen ExAC TOPMed gnomAD
CA397743213 rs1373954300	22	L>F		No	ClinGen gnomAD
rs1231726012 CA397743261	23	H>R		No	ClinGen TOPMed gnomAD
CA8331967 rs142006994	23	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA397743322 rs1273102443	25	A>T		No	ClinGen TOPMed
CA8331970 rs761939132	27	C>*		No	ClinGen ExAC gnomAD
rs200500047 CA397743418	27	C>S		No	ClinGen 1000Genomes ExAC gnomAD
rs200500047 CA8331969	27	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA8331972 rs762291469	29	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA397743454 rs1362977500	29	R>W		No	ClinGen TOPMed gnomAD
rs1242326018 CA397743558	32	V>D		No	ClinGen gnomAD
CA397743560 rs1242326018	32	V>G		No	ClinGen gnomAD
CA397743545 rs1339710064	32	V>L		No	ClinGen gnomAD
rs566554569 CA8331974	35	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1214412664 CA397743691	37	C>R		No	ClinGen gnomAD
TCGA novel	37	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1267532004 CA397743740	38	E>A		No	ClinGen gnomAD
CA397743759 rs1387104335	39	E>K		No	ClinGen TOPMed
rs752544995 CA8331975	40	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1567644998 CA397743853	42	P>S		No	ClinGen Ensembl
CA397743962 rs1263013479	44	E>D		No	ClinGen gnomAD
CA397744066 rs1461582757	46	M>I		No	ClinGen gnomAD
rs748927671 CA8331978	46	M>T		No	ClinGen ExAC gnomAD
CA287382613 rs928937087	46	M>V		No	ClinGen TOPMed gnomAD
CA397744125 rs1428962093	48	E>V		No	ClinGen TOPMed
CA8331979 rs756867937	49	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs376820356 CA397744181	50	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA397744156 rs1342969890	50	C>G		No	ClinGen TOPMed gnomAD
CA397744157 rs1376689638	50	C>Y		No	ClinGen TOPMed
rs1249995286 CA397744191	51	K>E		No	ClinGen TOPMed
rs1289436682 CA397744224	52	L>I		No	ClinGen gnomAD
rs1401407574 CA397744244	52	L>P		No	ClinGen gnomAD
rs1294836765 CA397744255	53	E>K		No	ClinGen TOPMed gnomAD
rs1294836765 CA397744262	53	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	54	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1483643874 CA397744334	55	Q>*		No	ClinGen TOPMed
rs1287929055 CA397744344	55	Q>H		No	ClinGen TOPMed gnomAD
CA287382632 rs752549585	55	Q>P		No	ClinGen gnomAD
TCGA novel	58	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8332032 rs779395757	58	G>V		No	ClinGen ExAC gnomAD
rs939422173 CA397747026	59	C>R		No	ClinGen gnomAD
rs939422173 CA287383505	59	C>S		No	ClinGen gnomAD
rs751036670 CA8332033	60	T>M		No	ClinGen ExAC TOPMed gnomAD
CA397747134 rs1301245224	61	M>K		No	ClinGen gnomAD
CA8332036 rs748581301	64	Q>H		No	ClinGen ExAC gnomAD
CA8332037 rs770132913	66	M>R		No	ClinGen ExAC gnomAD
rs1272771813 CA397747357	67	Q>R		No	ClinGen TOPMed
CA8332039 rs114531225	69	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114531225 CA8332038	69	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs894939640 CA287383538	70	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8332042 rs149801864	71	L>M		No	ClinGen ESP ExAC gnomAD
CA8332079 rs757638912	76	A>V		No	ClinGen ExAC gnomAD
rs61731569 CA8332081	77	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8332083 rs780307784	78	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8332084 rs370468679	80	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8332085 rs769866307	80	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA397747998 rs773133023	81	E>*		No	ClinGen ExAC TOPMed gnomAD
rs773133023 CA8332086	81	E>K		No	ClinGen ExAC TOPMed gnomAD
rs749102101 CA8332088 COSM1679439	82	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs554272652 CA8332089	82	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554272652 CA397748029	82	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1424956318 CA397748073	84	V>A		No	ClinGen TOPMed
VAR_042616 CA8332090 rs34195599	85	E>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA287384011 rs367805632	86	C>R		No	ClinGen ESP TOPMed gnomAD
rs1393195074 CA397748133	86	C>S		No	ClinGen TOPMed gnomAD
rs1267061723 CA397748154	87	K>E		No	ClinGen TOPMed
rs759218762 CA8332091	88	F>S		No	ClinGen ExAC gnomAD
CA8332092 rs771667902	89	C>Y		No	ClinGen ExAC gnomAD
rs1013842515 CA287384032	90	K>T		No	ClinGen TOPMed
CA397748310 rs1313121439	92	D>N		No	ClinGen gnomAD
CA8332094 rs760114237	93	M>I		No	ClinGen ExAC gnomAD
CA397748340 rs1203443212	93	M>T		No	ClinGen gnomAD
CA287384039 rs1023643745	93	M>V		No	ClinGen Ensembl
rs1469208197 CA397748370	94	Q>H		No	ClinGen TOPMed gnomAD
CA8332095 rs764578271	95	L>F		No	ClinGen ExAC gnomAD
CA8332098 rs765602611	99	E>K		No	ClinGen ExAC gnomAD
CA8332100 rs186202043	102	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8332101 rs780365016	103	S>P		No	ClinGen ExAC gnomAD
rs1394819858 CA397748699	105	C>*		No	ClinGen gnomAD
CA8332104 rs147667185	105	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA397748689 rs1387037509	105	C>R		No	ClinGen TOPMed
CA8332103 rs147667185	105	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA287384102 rs1036154868	107	S>N		No	ClinGen TOPMed
CA8332105 rs749219289	107	S>R		No	ClinGen ExAC gnomAD
rs148910934 CA8332107	108	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148910934 CA8332106	108	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397748776 rs1394440656	108	R>W		No	ClinGen gnomAD
rs1597723471 CA397748796	109	T>P		No	ClinGen Ensembl
CA287384126 rs912392634	113	Q>P		No	ClinGen TOPMed gnomAD
rs775121803 CA8332110	115	C>Y		No	ClinGen ExAC gnomAD
CA397749065 rs144018972	116	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8332112 rs144018972	116	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397749220 rs777041845	120	M>R		No	ClinGen ExAC TOPMed gnomAD
CA8332113 rs777041845	120	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	121	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150987933 CA8332116	122	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs150987933 CA397749299	122	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs763342024 CA8332117	122	R>H		No	ClinGen ExAC TOPMed gnomAD
rs150987933 CA8332115	122	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8332119 rs35205123	123	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8332118 rs766772573	123	M>V		No	ClinGen ExAC gnomAD
rs372380890 CA8332120	125	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA397749387 rs1321301067	125	A>V		No	ClinGen TOPMed
CA397749456 rs1393901795	128	R>G		No	ClinGen TOPMed gnomAD
rs1459932808 CA397749481	129	D>H		No	ClinGen TOPMed gnomAD
CA397749514 rs1216823909	130	V>A		No	ClinGen gnomAD
rs781365147 CA8332121	130	V>I		No	ClinGen ExAC TOPMed gnomAD
COSM1232898 rs1430480996 CA397749555	132	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
VAR_042617 rs2271232 CA8332122	132	R>H		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8332123 rs2271232	132	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA287384192 rs386794960	132	R>Q		No	ClinGen Ensembl
CA397749561 rs1430480996	132	R>S		No	ClinGen gnomAD
rs140283887 CA8332125	133	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8332126 rs146752602	134	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779728297 CA8332128	135	Q>E		No	ClinGen ExAC gnomAD
rs779728297 CA8332127	135	Q>K		No	ClinGen ExAC gnomAD
rs1290507414 CA397749620	135	Q>L		No	ClinGen gnomAD
rs1290507414 CA397749619	135	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8332130 rs34048764	139	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8332182 rs759422267	144	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8332184 rs752489751	146	A>T		No	ClinGen ExAC TOPMed gnomAD
rs143375195 CA8332186	149	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1300285412 CA397750388	152	Y>C		No	ClinGen gnomAD
CA8332187 rs61730352	153	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397750400 rs1567652584	154	H>N		No	ClinGen Ensembl
rs1323537051 CA397750413	155	Y>C		No	ClinGen TOPMed
rs1348449215 CA397750411	155	Y>D		No	ClinGen TOPMed
rs866549768 CA287385391	156	C>*		No	ClinGen Ensembl
CA8332189 rs756818440	156	C>R		No	ClinGen ExAC gnomAD
rs746333325 CA8332191	158	Q>H		No	ClinGen ExAC gnomAD
rs1567652664 CA397750436	158	Q>P		No	ClinGen Ensembl
rs985485430 CA287385411	159	M>I		No	ClinGen Ensembl
CA397750441 rs1462396604	159	M>V		No	ClinGen TOPMed
rs1246236411 CA397750463 COSM1679440	162	E>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1198270482 CA397750474	163	N>S		No	ClinGen TOPMed gnomAD
CA397750482 rs1260634040	164	K>R		No	ClinGen gnomAD
CA397750495 rs1477504912	166	F>V		No	ClinGen TOPMed
CA287385441 rs765340676	168	H>P		No	ClinGen TOPMed gnomAD
CA397750512 rs765340676	168	H>R		No	ClinGen TOPMed gnomAD
rs376949183 CA287385440	168	H>Y		No	ClinGen ESP TOPMed
CA8332195 rs768867016	169	M>T		No	ClinGen ExAC TOPMed gnomAD
rs747311697 CA8332194	169	M>V		No	ClinGen ExAC gnomAD
CA8332223 rs761390773	170	G>D		No	ClinGen ExAC gnomAD
CA8332222 rs776529501	170	G>S		No	ClinGen ExAC gnomAD
rs1483183521 CA397753499	172	C>S		No	ClinGen TOPMed
rs764882986 CA8332224	173	C>R		No	ClinGen ExAC TOPMed gnomAD
rs375225505 CA8332225	173	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1255654519 CA397753529	174	P>L		No	ClinGen gnomAD
rs1458701132 CA397753555	176	S>A		No	ClinGen gnomAD
rs1252296319 CA397753580	177	E>G		No	ClinGen gnomAD
CA397753595 rs1487383488	178	F>L		No	ClinGen gnomAD
CA8332227 rs370570744	180	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs149170701 CA8332230	181	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141501429 CA8332229	181	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs924690312 CA287390739	182	F>V		No	ClinGen Ensembl
rs1567661849 CA397753736	182	F>Y		No	ClinGen Ensembl
rs529928566 CA8332232	183	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1295613085 CA397753788	184	V>A		No	ClinGen gnomAD
rs1023555687 CA287390746	187	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs778052611 CA8332234 COSM1385612	188	E>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
VAR_042618 CA8332233 rs34625877	188	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA287390750 rs943260785	189	I>F		No	ClinGen TOPMed gnomAD
CA397753933 rs1218640127	189	I>S		No	ClinGen TOPMed gnomAD
CA397753929 rs1218640127	189	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	190	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397753954 rs1567662015	191	P>S		No	ClinGen Ensembl
CA397754012 rs1317912881	193	S>C		No	ClinGen gnomAD
CA8332236 rs771024839	195	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA287390757 rs763317362	196	S>R		No	ClinGen gnomAD
rs1261298061 CA397754109	199	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397754110 rs1478852267	200	E>K		No	ClinGen gnomAD
CA397754177 rs1185822452	202	Q>L		No	ClinGen TOPMed
rs746977583 CA8332238	203	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8332239 rs371250443	205	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs761600448 CA8332241	206	M>V		No	ClinGen ExAC
CA8332242 rs764861605	207	E>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	208	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287390764 rs1004789601	209	D>V		No	ClinGen Ensembl
COSM1232899 rs751796364 CA8332245	211	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8332246 rs751027938	211	R>H		No	ClinGen ExAC gnomAD
rs1567662263 CA397754328	214	T>K		No	ClinGen Ensembl
CA8332247 rs147254786	214	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs753072088 CA8332249	217	I>K		No	ClinGen ExAC TOPMed gnomAD
rs767946799 CA8332248	217	I>V		No	ClinGen ExAC gnomAD
CA397754381 rs1293826972	218	N>S		No	ClinGen TOPMed
VAR_042619 rs3736433 CA8332250	219	R>I		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA397754418 rs1337793814	221	P>S		No	ClinGen TOPMed
CA397754433 rs1214093303	222	L>P		No	ClinGen gnomAD
rs1284175612 CA397754442	223	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397754470 rs1457176365	224	S>Y		No	ClinGen gnomAD
rs754063854 CA8332252	226	S>R		No	ClinGen ExAC gnomAD
TCGA novel	227	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397754548 rs1237027546	229	K>E		No	ClinGen TOPMed gnomAD
CA397754560 rs1471845619	230	K>E		No	ClinGen gnomAD
CA397754567 rs1184185053	230	K>R		No	ClinGen gnomAD
CA397754591 rs1415078590	231	A>P		No	ClinGen gnomAD
CA8332253 rs757386179	233	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757386179 CA8332254	233	R>T		No	ClinGen ExAC TOPMed gnomAD
CA397754640 rs1386645791	234	S>G		No	ClinGen TOPMed
rs1157178535 CA397754656	234	S>R		No	ClinGen gnomAD
CA8332259 rs747947992	240	D>N		No	ClinGen ExAC gnomAD
rs1284714214 CA397754845	243	L>F		No	ClinGen TOPMed gnomAD
CA397754881 rs375870927	245	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs772779329 CA8332262	245	S>L		No	ClinGen ExAC gnomAD
rs375870927 CA8332261	245	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8332263 rs762697785	246	E>*		No	ClinGen ExAC gnomAD
CA287390781 rs374645108	247	P>T		No	ClinGen Ensembl
rs1022944906 CA287390783	249	P>L		No	ClinGen TOPMed
rs1567662679 CA397754990	250	R>M		No	ClinGen Ensembl
CA8332265 rs759411615	251	T>A		No	ClinGen ExAC gnomAD
CA8332266 rs759043028	252	S>N		No	ClinGen ExAC TOPMed gnomAD
rs768073226 CA8332267	252	S>R		No	ClinGen ExAC gnomAD
rs1265518574 CA397755018	252	S>R		No	ClinGen TOPMed
rs767288804 CA397755051	253	S>C		No	ClinGen TOPMed
rs767288804 CA287390787	253	S>Y		No	ClinGen TOPMed
CA397755071 rs1235085314	254	P>L		No	ClinGen TOPMed
CA397755061 rs1273518893	254	P>S		No	ClinGen TOPMed
rs753227682 CA8332270	255	R>K		No	ClinGen ExAC TOPMed gnomAD
CA397755105 rs753227682	255	R>T		No	ClinGen ExAC TOPMed gnomAD
COSM3937520 rs1321178218 CA397755122	256	G>E	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
rs987747124 CA287390795	257	D>E		No	ClinGen Ensembl
rs1269170796 CA397755143	257	D>G		No	ClinGen TOPMed gnomAD
rs531093792 CA8332271	257	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA397755159 rs1177276178	258	K>*		No	ClinGen gnomAD
CA287390797 rs911717199	259	A>E		No	ClinGen TOPMed
TCGA novel	259	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs943293566 CA287390799	262	D>G		No	ClinGen TOPMed
CA8332272 rs373581793	263	I>L		No	ClinGen ESP ExAC gnomAD
rs1440685559 CA397755227	263	I>T		No	ClinGen TOPMed gnomAD
rs1415694370 CA397755244	265	R>G		No	ClinGen gnomAD
rs1168623392 CA397755259	265	R>S		No	ClinGen TOPMed
TCGA novel	265	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397755278 rs1375935713	266	R>S		No	ClinGen TOPMed
rs757570372 CA8332275	270	C>R		No	ClinGen ExAC gnomAD
rs1377156801 CA397755370	270	C>Y		No	ClinGen gnomAD
rs779206237 CA8332276	271	G>S		No	ClinGen ExAC TOPMed gnomAD
CA287390807 rs886225931	271	G>V		No	ClinGen gnomAD
CA287390809 rs759453895	273	L>Q		No	ClinGen Ensembl
CA287390816 rs894389758	277	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs567884801 CA397755485	277	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs567884801 CA8332281	277	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397755510 rs1272190704	278	I>T		No	ClinGen TOPMed
rs777645157 CA8332283	279	L>R		No	ClinGen ExAC TOPMed gnomAD
CA397755607 rs1332503838	282	H>Y		No	ClinGen Ensembl
CA8332284 rs377021489	283	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA287391286 rs765662208	284	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	284	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	284	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8332314 rs773669960	285	K>E		No	ClinGen ExAC TOPMed gnomAD
rs763288542 CA8332315	285	K>T		No	ClinGen ExAC gnomAD
CA8332317 rs147129551	287	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8332316 COSM1479908 rs774538537	287	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs559850758 CA287391289	290	A>P		No	ClinGen gnomAD
TCGA novel	290	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8332320 rs753745723	291	S>L		No	ClinGen ExAC TOPMed gnomAD
rs764142234 CA8332319	291	S>T		No	ClinGen ExAC gnomAD
rs1370050428 CA397757080	292	S>*		No	ClinGen gnomAD
rs1425078670 CA397757102	293	K>T		No	ClinGen gnomAD
rs148666603 CA287391292	296	Q>R		No	ClinGen ESP TOPMed gnomAD
rs1360168099 CA397757203	298	R>K		No	ClinGen gnomAD
CA8332321 rs757148508	301	S>T		No	ClinGen ExAC TOPMed gnomAD
rs778705714 CA8332322	302	S>Q		No	ClinGen ExAC gnomAD

No associated diseases with Q6GPH4

No regional properties for Q6GPH4

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q6GPH4

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus Mitochondrion	Found in the cytoplasm and nucleus of placental syncytiotrophoblasts Translocates to mitochondria upon TNF-alpha treatment
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

1 GO annotations of molecular function

Name	Definition
zinc ion binding	Binding to a zinc ion (Zn).

2 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
response to interferon-beta	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 interferon-beta stimulus. Interferon-beta is a type I interferon.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MEGDFSVCRN	CKRHVVSANF	TLHEAYCLRF	LVLCPECEEP	VPKETMEEHC	KLEHQQVGCT
70	80	90	100	110	120
MCQQSMQKSS	LEFHKANECQ	ERPVECKFCK	LDMQLSKLEL	HESYCGSRTE	LCQGCGQFIM
130	140	150	160	170	180
HRMLAQHRDV	CRSEQAQLGK	GERISAPERE	IYCHYCNQMI	PENKYFHHMG	KCCPDSEFKK
190	200	210	220	230	240
HFPVGNPEIL	PSSLPSQAAE	NQTSTMEKDV	RPKTRSINRF	PLHSESSSKK	APRSKNKTLD
250	260	270	280	290	300
PLLMSEPKPR	TSSPRGDKAA	YDILRRCSQC	GILLPLPILN	QHQEKCRWLA	SSKGKQVRNF

S