AiPD: Autoinhibited Protein Database

Q9H3P7

Gene name	ACBD3 (GCP60, GOCAP1, GOLPH1)
Protein name	Golgi resident protein GCP60
Names	Acyl-CoA-binding domain-containing protein 3, Golgi complex-associated protein 1, GOCAP1, Golgi phosphoprotein 1, GOLPH1, PBR- and PKA-associated protein 7, Peripheral benzodiazepine receptor-associated protein PAP7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64746
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-86 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-86 (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

13 structures for Q9H3P7

Entry ID	Method	Resolution	Chain	Position	Source
2N72	NMR	-	A	241-308	PDB
2N73	NMR	-	A	241-308	PDB
5LZ1	X-ray	200 A	A	364-528	PDB
5LZ3	X-ray	300 A	A	364-528	PDB
5LZ6	X-ray	260 A	A	364-528	PDB
5TDQ	X-ray	249 A	A	367-528	PDB
6HLN	X-ray	210 A	A	364-528	PDB
6HLT	X-ray	281 A	A/C	364-528	PDB
6HLV	X-ray	250 A	A	364-528	PDB
6HLW	X-ray	273 A	A/C	364-528	PDB
6HM8	X-ray	228 A	A	364-528	PDB
6HMV	X-ray	224 A	A	364-528	PDB
AF-Q9H3P7-F1	Predicted				AlphaFoldDB

386 variants for Q9H3P7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA345023361 rs1254463856	2	A>V		No	ClinGen gnomAD
rs759374832 CA1421549	3	A>E		No	ClinGen ExAC TOPMed gnomAD
CA1421550 rs759374832	3	A>G		No	ClinGen ExAC TOPMed gnomAD
rs762556327 CA1421551	3	A>T		No	ClinGen ExAC gnomAD
rs759374832 CA1421548	3	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1350744715 CA345023340	4	V>L		No	ClinGen Ensembl
CA345023316 rs1481682854	6	N>K		No	ClinGen gnomAD
rs770762845 CA38572593	7	A>G		No	ClinGen ExAC TOPMed gnomAD
rs770762845 CA1421546	7	A>V		No	ClinGen ExAC TOPMed gnomAD
CA345023288 rs773031939	9	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1162116762 CA345023274	10	L>V		No	ClinGen TOPMed
rs375184633 CA1421542	13	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA38572555 rs981023847	19	L>V		No	ClinGen TOPMed gnomAD
CA345023127 rs1396534565	21	P>A		No	ClinGen gnomAD
CA345023118 rs1188828080	21	P>L		No	ClinGen gnomAD
rs779063500 CA1421541	22	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1457789744 CA345023089	23	P>L		No	ClinGen gnomAD
CA345023085 rs1167534336	24	E>Q		No	ClinGen gnomAD
CA345023058 rs1260299161	27	P>H		No	ClinGen TOPMed gnomAD
CA1421540 rs768903726	27	P>S		No	ClinGen ExAC TOPMed gnomAD
CA38572536 rs943178558	33	P>L		No	ClinGen TOPMed gnomAD
CA345023019 rs1180355975	34	L>M		No	ClinGen gnomAD
CA345023004 rs1335785470	36	P>L		No	ClinGen TOPMed
rs780523462 CA1421538	37	P>R		No	ClinGen ExAC gnomAD
rs756572574 CA1421537	38	P>S		No	ClinGen ExAC
rs750874693 CA1421536	40	P>S		No	ClinGen ExAC gnomAD
CA38572509 rs933381595	41	P>L		No	ClinGen TOPMed
rs961402282 CA38572500	42	P>L		No	ClinGen Ensembl
rs1252656556 CA345022975	42	P>S		No	ClinGen TOPMed
CA345022966 rs1272781149	43	S>L		No	ClinGen gnomAD
CA345022958 rs1576245297	45	P>A		No	ClinGen Ensembl
CA345022950 rs1214052688	46	G>A		No	ClinGen gnomAD
CA345022937 rs1576245291	48	G>A		No	ClinGen Ensembl
CA38572498 rs908312991	49	R>G		No	ClinGen gnomAD
rs986862461 CA345022920	51	P>L		No	ClinGen TOPMed gnomAD
CA38572496 rs986862461	51	P>R		No	ClinGen TOPMed gnomAD
rs1335988241 CA345022911	53	A>S		No	ClinGen TOPMed gnomAD
rs1335988241 CA345022913	53	A>T		No	ClinGen TOPMed gnomAD
CA345022906 rs1299926491	54	S>P		No	ClinGen TOPMed gnomAD
rs955078520 CA38572492	56	E>K		No	ClinGen TOPMed gnomAD
rs955078520 CA345022895	56	E>Q		No	ClinGen TOPMed gnomAD
rs1028156367 CA38572471	58	P>L		No	ClinGen gnomAD
CA345022868 rs1399306530	59	E>D		No	ClinGen TOPMed
rs1157402356 CA345022873	59	E>Q		No	ClinGen gnomAD
rs1394775667 CA345022864	60	P>H		No	ClinGen TOPMed
rs1364657424 CA345022858	61	G>A		No	ClinGen gnomAD
TCGA novel	61	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1421534 rs757942428	63	A>S		No	ClinGen ExAC TOPMed
CA345022845 rs1254788829	63	A>V		No	ClinGen gnomAD
CA38572435 rs909455118	64	A>S		No	ClinGen TOPMed gnomAD
CA345022831 COSM3943507 rs1265939130	65	A>V	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA38572424 rs991780965	66	G>E		No	ClinGen TOPMed gnomAD
rs1206691632 CA345022829 CA345022830	66	G>R		No	ClinGen gnomAD
CA345022823 rs1255122927	67	G>C		No	ClinGen gnomAD
CA345022813 rs1372603621	69	A>T		No	ClinGen gnomAD
TCGA novel	70	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1322479404 CA345022788	72	A>E		No	ClinGen gnomAD
rs1576245207 CA345022791	72	A>T		No	ClinGen Ensembl
CA38572414 rs868248828	73	R>Q		No	ClinGen Ensembl
rs1486374617 CA345022784	73	R>W		No	ClinGen TOPMed
CA38572412 rs867900886	74	R>Q		No	ClinGen Ensembl
CA345022780 rs1442193703	74	R>W		No	ClinGen gnomAD
rs865838088 CA38572398	75	L>P		No	ClinGen Ensembl
CA38572391 rs892536802	76	E>K		No	ClinGen TOPMed gnomAD
CA345022773 rs892536802	76	E>Q		No	ClinGen TOPMed gnomAD
CA345022751 rs1576245185	79	W>R		No	ClinGen Ensembl
rs753573490 CA345022729	81	F>L		No	ClinGen ExAC gnomAD
rs1194401389 CA345022722	82	G>C		No	ClinGen TOPMed
CA345022716 rs1385900216	82	G>V		No	ClinGen gnomAD
CA345022698 rs1464749924	84	E>A		No	ClinGen gnomAD
rs1003062164 CA38572364	84	E>Q		No	ClinGen TOPMed
rs766135510 CA1421529	85	E>D		No	ClinGen ExAC gnomAD
rs879330856 CA345022639	88	G>C		No	ClinGen TOPMed gnomAD
rs879330856 CA38572333	88	G>R		No	ClinGen TOPMed gnomAD
CA345022627 rs551195660	89	L>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA38572317 rs551195660	89	L>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1436729721 CA345022612	90	A>T		No	ClinGen TOPMed
rs1255021629 CA345022597	91	L>Q		No	ClinGen gnomAD
CA345022538 rs1349640945	95	K>R		No	ClinGen TOPMed gnomAD
rs778635797 CA1421515	97	K>R		No	ClinGen ExAC gnomAD
rs962346460 CA38555327	98	D>G		No	ClinGen TOPMed gnomAD
rs1352788252 CA345019220	98	D>N		No	ClinGen gnomAD
rs962346460 CA345019210	98	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	98	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345019079 rs1410399242	105	T>A		No	ClinGen gnomAD
rs754543231 CA1421514	105	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	110	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345018850 rs1299724034	115	L>R		No	ClinGen gnomAD
rs1418094825 CA345018844	116	H>P		No	ClinGen gnomAD
rs755895070 CA1421511	121	M>T		No	ClinGen ExAC gnomAD
rs1471421982 CA345018744	121	M>V		No	ClinGen gnomAD
rs1204625668 CA345018557	126	P>S		No	ClinGen gnomAD
TCGA novel	130	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs982660147 CA38555277	131	E>G		No	ClinGen TOPMed
rs761794296 CA1421508	132	V>I		No	ClinGen ExAC gnomAD
rs762954434 CA1421505	140	N>S		No	ClinGen ExAC gnomAD
CA1421504 rs775731925	141	D>N		No	ClinGen ExAC gnomAD
rs369273466 CA1421489	145	E>V		No	ClinGen ESP ExAC gnomAD
CA38554645 rs866328582	146	W>*		No	ClinGen Ensembl
CA345017785 rs1576235447	146	W>R		No	ClinGen Ensembl
rs764040687 CA1421488	147	A>V		No	ClinGen ExAC gnomAD
CA345017687 rs1428465616	150	G>E		No	ClinGen gnomAD
rs754400351 CA38554630	151	N>K		No	ClinGen ExAC gnomAD
CA345017668 rs1448854073	151	N>S		No	ClinGen TOPMed
CA345017638 rs1159450342 CA345017630	152	M>I		No	ClinGen gnomAD
CA1421486 rs143911859	154	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866043781 CA38554604	158	M>T		No	ClinGen Ensembl
CA345017465 rs1213962079	158	M>V		No	ClinGen TOPMed
CA1421484 rs759745289	159	V>L		No	ClinGen ExAC TOPMed gnomAD
CA345017331 rs1280682604	163	K>R		No	ClinGen TOPMed
CA1421482 rs771367000	164	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1421481 rs747404751	170	H>R		No	ClinGen ExAC gnomAD
CA345017164 rs1279181879	170	H>Y		No	ClinGen TOPMed
TCGA novel	171	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442428277 CA345017132	171	L>P		No	ClinGen TOPMed
rs1211616017 COSM158843 CA345017090	174	T>A	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1239921523 CA345017070	174	T>I		No	ClinGen TOPMed
CA345017066 rs1188531576	175	Y>H		No	ClinGen TOPMed
rs1216715098 CA345017018	176	V>I		No	ClinGen TOPMed gnomAD
CA345016991 rs1311828818	177	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1278102719 CA345016945	179	H>R		No	ClinGen gnomAD
rs954503432 CA38554519	181	I>L		No	ClinGen TOPMed gnomAD
CA345016793 rs745447361	185	E>D		No	ClinGen ExAC TOPMed gnomAD
CA345016802 rs1296840297	185	E>K		No	ClinGen gnomAD
rs1363760777 CA345016789	186	Q>E		No	ClinGen TOPMed gnomAD
CA345016790 rs1363760777	186	Q>K		No	ClinGen TOPMed gnomAD
rs2306120 VAR_019615 CA1421474	187	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA38554483 rs1025390596	187	E>G		No	ClinGen Ensembl
rs1289262427 CA345016768	187	E>K		No	ClinGen gnomAD
rs751387586 CA1421472	188	K>N		No	ClinGen ExAC gnomAD
rs769843835 CA1421473	188	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA345016747 rs1314165662	188	K>R		No	ClinGen gnomAD
rs1396186692 CA345016717	190	R>G		No	ClinGen gnomAD
rs757016425	190	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1220526930 CA345023569	191	K>M		No	ClinGen gnomAD
rs9730340 CA38587408	193	E>D		No	ClinGen Ensembl
TCGA novel	193	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1326118929 CA345023557	193	E>Q		No	ClinGen TOPMed
rs1332343006 CA345023547	194	E>G		No	ClinGen gnomAD
rs920198834 CA38587404	196	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs558678818 CA1421449	196	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345023527 rs754968861 CA1421447	197	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1421445 rs377184596	198	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1421446 rs748746667	198	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1421443 rs372509123	199	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1421442 rs762254068	199	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1421441 rs762254068	199	R>L		No	ClinGen ExAC TOPMed gnomAD
CA345023521 rs762254068	199	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1421439 rs774673067	206	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1421438 COSM904713 rs537484387	206	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA1421437 rs759016330	208	Q>L		No	ClinGen ExAC gnomAD
CA1421436 rs776176717	210	E>G		No	ClinGen ExAC TOPMed gnomAD
CA345023442 rs1421006961	211	E>K		No	ClinGen gnomAD
CA1421435 rs368235683	212	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1421434 rs112143123	214	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA38587360 rs112143123	214	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs147538215 CA1421433	214	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs771713081 CA1421432	215	R>G		No	ClinGen ExAC gnomAD
CA345023410 rs1353100619	216	R>G		No	ClinGen TOPMed gnomAD
rs748002492 CA1421430	217	E>D		No	ClinGen ExAC TOPMed gnomAD
CA345023394 rs1258625946	218	E>K	Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA38587349 rs1021511425	221	R>G		No	ClinGen TOPMed gnomAD
rs191893895 CA38587342	221	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs767031016	222	L>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA1421426 rs374978330	223	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs750618003 CA1421424	224	R>G		No	ClinGen ExAC gnomAD
rs767804126 COSM904712 CA1421422	224	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs750618003 CA1421423	224	R>W		No	ClinGen ExAC gnomAD
rs1247057666 CA345023325	225	E>A		No	ClinGen TOPMed
rs751995682 CA1421420	227	E>G		No	ClinGen ExAC TOPMed gnomAD
CA345023261 rs77727776	229	R>K		No	ClinGen TOPMed
CA38587296 rs77727776	229	R>T		No	ClinGen TOPMed
rs145831627 CA1421415	231	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM210170 CA1421416 rs763517769	231	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs765814964 CA1421414	232	I>K		No	ClinGen ExAC gnomAD
CA345023232 rs1193993258	232	I>V		No	ClinGen gnomAD
TCGA novel	235	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149848847 CA1421410 CA1421411	236	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs771793485 CA1421409	238	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771793485 CA38587164	238	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM173171 CA345023155 rs1278923333	238	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA38587140 rs938771062	240	E>A		No	ClinGen Ensembl
TCGA novel	241	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs907313925 CA38587126	241	Q>H		No	ClinGen Ensembl
rs768515108 CA1421387	243	K>N		No	ClinGen ExAC TOPMed gnomAD
CA38585631 rs1046942711	244	Q>R		No	ClinGen TOPMed
CA1421386 rs749119044	247	M>V		No	ClinGen ExAC gnomAD
rs775530287 CA1421385	249	A>G		No	ClinGen ExAC gnomAD
rs769893918 CA1421384	250	L>F		No	ClinGen ExAC
CA1421383 rs745913111	251	N>K		No	ClinGen ExAC TOPMed
rs374506795 CA1421382	252	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	253	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	253	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1576232881 CA345022606	253	Q>P		No	ClinGen Ensembl
rs536279789 CA1421381	255	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA1421380 rs536279789	255	A>T		No	ClinGen 1000Genomes ExAC gnomAD
COSM213983 rs200702189 CA1421378	256	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA1421377 rs753097557	261	Y>C		No	ClinGen ExAC gnomAD
CA345022506 rs753097557	261	Y>F		No	ClinGen ExAC gnomAD
rs1241796146 CA345022494	263	A>V		No	ClinGen Ensembl
CA345022471 rs1357618933	266	Y>C		No	ClinGen gnomAD
rs749902009 CA1421374	267	P>A		No	ClinGen ExAC TOPMed gnomAD
CA345022463 rs1165413248	267	P>L		No	ClinGen TOPMed
CA345022453 rs1396176431	269	N>S		No	ClinGen TOPMed
CA345022443 rs376198228	270	Y>*		No	ClinGen ESP TOPMed gnomAD
CA38585596 rs942769629	270	Y>H		No	ClinGen Ensembl
CA345022441 rs1330025165	271	E>K		No	ClinGen TOPMed
CA38585594 rs766990449	274	Q>H		No	ClinGen ExAC gnomAD
rs762875502 CA38585589	277	I>L		No	ClinGen Ensembl
CA345022390 rs1330875038	278	R>C		No	ClinGen gnomAD
CA345022388 rs1466101037	278	R>H		No	ClinGen gnomAD
rs761245421 CA1421372	281	Q>R		No	ClinGen ExAC gnomAD
rs1373409344 CA345022340	284	H>Q		No	ClinGen TOPMed
CA38585584 rs936649501	285	Y>C		No	ClinGen gnomAD
CA1421371 rs751211310	289	M>V		No	ClinGen ExAC gnomAD
rs1468199621 CA345022298	290	Q>*		No	ClinGen gnomAD
rs1184549292 CA345022279	292	L>F		No	ClinGen gnomAD
CA38585557 rs775447341	292	L>W		No	ClinGen Ensembl
CA345022256 rs1321442034	296	Q>E		No	ClinGen gnomAD
rs762812260 CA1421369	298	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	298	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	299	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	300	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345022199 rs1558125669	301	Q>E		No	ClinGen Ensembl
CA345022195 rs1337221611	301	Q>P		No	ClinGen gnomAD
CA1421352 rs529198158	304	L>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1346657928 CA345021699	307	Q>E		No	ClinGen gnomAD
CA1421351 rs137989799	309	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA345021672 rs1375352946	310	V>A		No	ClinGen gnomAD
TCGA novel	312	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199935319 CA1421350	315	S>A		No	ClinGen ExAC gnomAD
rs762753746 CA1421349	315	S>C		No	ClinGen ExAC gnomAD
rs762753746 CA1421348	315	S>Y		No	ClinGen ExAC gnomAD
rs752401225 CA1421347	316	S>F		No	ClinGen ExAC
CA1421345 rs759269628	317	L>F		No	ClinGen ExAC
rs776590252 CA38583041	319	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1264452390 CA345021598	319	T>I		No	ClinGen TOPMed
rs776590252 CA1421344	319	T>P		No	ClinGen ExAC gnomAD
rs1212858366 CA345021593	320	S>P		No	ClinGen gnomAD
CA1421343 rs770811702	321	S>L		No	ClinGen ExAC gnomAD
CA345021534 rs1487276337	325	A>V		No	ClinGen gnomAD
CA1421342 rs186444053	326	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186444053 CA1421341	326	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345021515 rs1212850219	328	P>S		No	ClinGen gnomAD
rs772273022 CA1421340	329	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1421339 rs141535126	331	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769018671 CA1421337	332	M>I		No	ClinGen ExAC TOPMed gnomAD
CA38583035 rs774573824	332	M>K		No	ClinGen ExAC TOPMed gnomAD
CA1421338 rs774573824	332	M>R		No	ClinGen ExAC TOPMed gnomAD
CA1421334 rs780580689	334	V>I		No	ClinGen ExAC TOPMed gnomAD
CA345021446 rs780580689	334	V>L		No	ClinGen ExAC TOPMed gnomAD
CA345021428 rs1373058321	335	N>S		No	ClinGen gnomAD
CA38583028 rs767106461	336	G>E		No	ClinGen gnomAD
CA1421332 rs563872367	339	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1421331 rs777492404	340	T>A		No	ClinGen ExAC gnomAD
CA345021364 rs1431511396	341	H>D		No	ClinGen TOPMed
rs757995283 CA1421330	341	H>Q		No	ClinGen ExAC gnomAD
rs1226905999 CA345021351	342	T>S		No	ClinGen TOPMed gnomAD
rs752348025 CA1421329	343	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1576230822 CA345021332	344	S>C		No	ClinGen Ensembl
CA345021329 rs1298747236	344	S>N		No	ClinGen gnomAD
rs764827011 CA1421328	345	S>P		No	ClinGen ExAC gnomAD
rs764827011 CA345021320	345	S>T		No	ClinGen ExAC gnomAD
rs370510406 CA1421326	346	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs377129629 CA1421325	349	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA345021259 rs1483534643	351	P>L		No	ClinGen gnomAD
rs1250730633 CA345021244	353	A>T		No	ClinGen gnomAD
rs747451644 CA38582985	354	A>T		No	ClinGen gnomAD
rs144925748 CA1421324	355	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258505554 CA345021219	355	E>D		No	ClinGen TOPMed gnomAD
rs144925748 CA38582983	355	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs143544007 CA1421323	356	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767531352 CA1421322	357	A>T		No	ClinGen ExAC TOPMed gnomAD
CA345021180 rs1294584745	358	L>R		No	ClinGen TOPMed gnomAD
rs1396143655 CA345021144	360	N>S		No	ClinGen gnomAD
rs1038603105 CA38582978	361	G>*		No	ClinGen gnomAD
rs940159174 CA38582976	361	G>A		No	ClinGen gnomAD
CA1421321 rs199621655	362	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA1421320 rs189746293	363	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs753658940 CA1421308	367	P>S		No	ClinGen ExAC gnomAD
TCGA novel	369	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441455954 CA345020688	369	I>R		No	ClinGen gnomAD
rs916103284 CA38581848	369	I>V		No	ClinGen TOPMed gnomAD
CA38581847 rs978641195	370	A>V		No	ClinGen Ensembl
CA345020670 rs1206720845	372	P>L		No	ClinGen gnomAD
CA345020660 rs1166200989	374	M>T		No	ClinGen TOPMed
CA1421305 rs755920746	374	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	376	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	377	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1421303 rs750315321	377	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1421302 rs767476196	378	P>T		No	ClinGen ExAC gnomAD
CA345020625 rs1356428937	379	Q>H		No	ClinGen gnomAD
CA38581828 rs970932816	379	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	385	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1310695108 CA345020579	385	E>D		No	ClinGen gnomAD
CA345020570 rs1234232338	386	K>N		No	ClinGen gnomAD
CA38581826 rs939070171	390	D>G		No	ClinGen TOPMed
rs148868431 CA1421300	393	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA38581825 rs267598392	393	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs148868431 CA345020524	393	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs763152788 COSM357808 CA1421298	394	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1421645296 CA345020501	397	V>L		No	ClinGen gnomAD
CA1421294 rs777244895	399	R>*		No	ClinGen ExAC TOPMed gnomAD
CA345020490 COSM414604 rs1219717654	399	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA38581771 rs1022200425	402	V>A		No	ClinGen TOPMed gnomAD
rs1199380483 CA345020471	402	V>M		No	ClinGen gnomAD
rs1259283108 CA345020458	404	T>S		No	ClinGen gnomAD
CA38581766 COSM904706 rs781141478	406	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs771614044 CA1421293	406	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA345020430 rs1279034376	409	T>I		No	ClinGen gnomAD
rs1191849675 CA345020428	410	H>N		No	ClinGen TOPMed
CA345020425 rs1210716506	410	H>R		No	ClinGen gnomAD
CA1421289 rs748837461	416	L>I		No	ClinGen ExAC TOPMed gnomAD
CA345020384 rs748837461	416	L>V		No	ClinGen ExAC TOPMed gnomAD
CA38581750 rs1008735747	418	W>*		No	ClinGen TOPMed
CA345020287 rs1380153792	423	D>N		No	ClinGen TOPMed
TCGA novel	423	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150683627 CA38581747	424	N>S		No	ClinGen ESP TOPMed gnomAD
rs994380319 CA38581732	427	I>T		No	ClinGen Ensembl
rs750261926 CA1421285	430	G>R		No	ClinGen ExAC gnomAD
CA345020125 rs1464351975	436	T>I		No	ClinGen gnomAD
CA38581709 rs901006594	437	D>H		No	ClinGen gnomAD
CA345020121 rs901006594	437	D>Y		No	ClinGen gnomAD
rs1379193993 CA345020104	438	S>Y		No	ClinGen TOPMed gnomAD
rs1020113363 CA38581703	439	P>S		No	ClinGen Ensembl
rs993483163 CA38581702	440	N>S		No	ClinGen TOPMed
CA345020080 rs1195348114	441	T>A		No	ClinGen gnomAD
CA1421281 rs566221432	442	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs752822487 COSM210169 CA1421278	445	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA38581695 rs1053809882	446	H>R		No	ClinGen TOPMed gnomAD
rs759955787 CA1421276	448	S>G		No	ClinGen ExAC gnomAD
CA1421275 rs777189881	449	E>G		No	ClinGen ExAC gnomAD
CA1421274 rs771557145	450	S>P		No	ClinGen ExAC gnomAD
rs1265405645 CA345019976	451	S>N		No	ClinGen TOPMed
rs546065485 CA38581689	452	D>N		No	ClinGen gnomAD
CA345019931 rs768005432	454	D>E		No	ClinGen ExAC gnomAD
CA345019938 rs1390781438	454	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs201638495 CA1421269	455	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1421270 rs375575279	455	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1421268 rs769488488	456	E>K		No	ClinGen ExAC gnomAD
rs1300743597 CA345019888	458	E>G		No	ClinGen TOPMed
CA38581679 rs1057190444	458	E>K		No	ClinGen TOPMed
CA1421255 rs761120264	459	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1486785284 CA345019176	460	N>Y		No	ClinGen TOPMed
CA345019142 rs1480637534	462	G>D		No	ClinGen TOPMed
CA1421253 rs768113472	464	E>K		No	ClinGen ExAC gnomAD
CA345019082 rs1157543300	465	E>G		No	ClinGen gnomAD
TCGA novel	467	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1421252 rs762351320	468	K>R		No	ClinGen ExAC gnomAD
CA1421251 rs775039980	469	K>R		No	ClinGen ExAC gnomAD
CA1421250 rs575374473	471	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745459470 CA1421249	472	N>S		No	ClinGen ExAC TOPMed gnomAD
CA38578311 rs17855715	473	K>R		No	ClinGen Ensembl
CA1421247 rs770590963	474	P>T		No	ClinGen ExAC gnomAD
CA345018685 rs1204700200	479	I>T		No	ClinGen gnomAD
COSM904705 rs1558121720 CA345018543	484	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs777550181 CA1421245	485	R>Q		No	ClinGen ExAC gnomAD
CA1421246 rs746859670	485	R>W		No	ClinGen ExAC gnomAD
rs1159141029 CA345018518	486	D>N		No	ClinGen TOPMed
CA345018479 rs1369881952	487	C>Y		No	ClinGen gnomAD
rs1558121703 CA345018418	488	H>Q		No	ClinGen Ensembl
CA345018378 rs986987064	490	E>*		No	ClinGen TOPMed gnomAD
rs3211100 CA38578291	490	E>D		No	ClinGen gnomAD
rs986987064 CA38578294	490	E>K		No	ClinGen TOPMed gnomAD
rs1438149941 CA345018315	491	V>E		No	ClinGen gnomAD
CA1421244 rs758418177	493	A>G		No	ClinGen ExAC gnomAD
rs1301807854 CA345018258	493	A>T		No	ClinGen TOPMed
rs758418177 CA345018250	493	A>V		No	ClinGen ExAC gnomAD
CA345018170 rs1404308725	496	H>R		No	ClinGen gnomAD
CA1421243 rs748230847	497	Q>R		No	ClinGen ExAC gnomAD
CA345018035 rs1160932904	501	R>G		No	ClinGen gnomAD
rs367683986 CA1421242	506	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	507	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755120458 CA1421241	508	F>C		No	ClinGen ExAC gnomAD
TCGA novel	510	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs113333885 CA38578252	511	S>P		No	ClinGen Ensembl
rs756404934 CA1421238	516	R>Q		No	ClinGen ExAC gnomAD
CA1421239 COSM904704 rs766741908	516	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1576226862 CA345017654	517	S>A		No	ClinGen Ensembl
CA345017587 rs1576226861	519	S>T		No	ClinGen Ensembl
CA345017530 rs1285599212	521	Y>S		No	ClinGen TOPMed
CA1421237 rs750852385	522	Y>C		No	ClinGen ExAC gnomAD
CA345017514 rs1371376629	522	Y>H		No	ClinGen TOPMed
rs374639984 CA1421236	525	Y>C		No	ClinGen ESP ExAC gnomAD
TCGA novel	526	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345017369 rs1347130312	527	T>A		No	ClinGen gnomAD

No associated diseases with Q9H3P7

3 regional properties for Q9H3P7

Type	Name	Position	InterPro Accession
domain	Acyl-CoA-binding protein, ACBP	83 - 174	IPR000582
domain	GOLD domain	384 - 527	IPR009038
conserved_site	Acyl-CoA-binding protein, ACBP, conserved site	104 - 122	IPR022408

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus membrane ; Peripheral membrane protein ; Cytoplasmic side Mitochondrion	Also mitochondrial (via its interaction with PBR)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
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.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.

2 GO annotations of molecular function

Name	Definition
fatty-acyl-CoA binding	Binding to a fatty-acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in thiolester linkage with a fatty acyl group.
protein kinase A regulatory subunit binding	Binding to one or both of the regulatory subunits of protein kinase A.

1 GO annotations of biological process

Name	Definition
steroid biosynthetic process	The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7TNY6	Acbd3	Golgi resident protein GCP60	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAAVLNAERL	EVSVDGLTLS	PDPEERPGAE	GAPLLPPPLP	PPSPPGSGRG	PGASGEQPEP
70	80	90	100	110	120
GEAAAGGAAE	EARRLEQRWG	FGLEELYGLA	LRFFKEKDGK	AFHPTYEEKL	KLVALHKQVL
130	140	150	160	170	180
MGPYNPDTCP	EVGFFDVLGN	DRRREWAALG	NMSKEDAMVE	FVKLLNRCCH	LFSTYVASHK
190	200	210	220	230	240
IEKEEQEKKR	KEEEERRRRE	EEERERLQKE	EEKRRREEEE	RLRREEEERR	RIEEERLRLE
250	260	270	280	290	300
QQKQQIMAAL	NSQTAVQFQQ	YAAQQYPGNY	EQQQILIRQL	QEQHYQQYMQ	QLYQVQLAQQ
310	320	330	340	350	360
QAALQKQQEV	VVAGSSLPTS	SKVNATVPSN	MMSVNGQAKT	HTDSSEKELE	PEAAEEALEN
370	380	390	400	410	420
GPKESLPVIA	APSMWTRPQI	KDFKEKIQQD	ADSVITVGRG	EVVTVRVPTH	EEGSYLFWEF
430	440	450	460	470	480
ATDNYDIGFG	VYFEWTDSPN	TAVSVHVSES	SDDDEEEEEN	IGCEEKAKKN	ANKPLLDEIV
490	500	510	520
PVYRRDCHEE	VYAGSHQYPG	RGVYLLKFDN	SYSLWRSKSV	YYRVYYTR