AiPD: Autoinhibited Protein Database

P06576

Gene name	ATP5F1B
Protein name	ATP synthase subunit beta, mitochondrial
Names	ATP synthase F1 subunit beta
Species	Homo sapiens (Human)
KEGG Pathway	hsa:506
EC number	7.1.2.2: Hydron translocation linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-84 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-84 (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

9 structures for P06576

Entry ID	Method	Resolution	Chain	Position	Source
8H9E	EM	253 A	D/E/F	48-529	PDB
8H9I	EM	277 A	D/E/F	48-529	PDB
8H9L	EM	261 A	D/E/F	48-529	PDB
8H9P	EM	302 A	D/E/F	48-529	PDB
8H9S	EM	253 A	D/E/F	48-529	PDB
8H9T	EM	277 A	D/E/F	48-529	PDB
8H9U	EM	261 A	D/E/F	48-529	PDB
8H9V	EM	302 A	D/E/F	48-529	PDB
AF-P06576-F1	Predicted				AlphaFoldDB

279 variants for P06576

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_087864	335	L>P	HUMOP2 [UniProt]	Yes	UniProt
rs866650910 CA385331401	2	L>F		No	ClinGen gnomAD
CA385331395 rs1216840120	3	G>R		No	ClinGen gnomAD
CA385331393 rs1216840120	3	G>W		No	ClinGen gnomAD
rs1284119999 CA385331386	4	F>L		No	ClinGen gnomAD
rs1446355537 CA385331381	4	F>S		No	ClinGen TOPMed gnomAD
CA6635675 rs758351439	5	V>L		No	ClinGen ExAC gnomAD
rs748262122 CA6635674	6	G>S		No	ClinGen ExAC TOPMed gnomAD
CA237682477 rs374939855	7	R>Q		No	ClinGen ESP TOPMed
CA385331356 rs1269480897	7	R>W		No	ClinGen TOPMed gnomAD
CA6635672 rs755237119	8	V>G		No	ClinGen ExAC gnomAD
rs778926995 CA6635673	8	V>L		No	ClinGen ExAC TOPMed gnomAD
CA385331342 rs1343480207	9	A>T		No	ClinGen gnomAD
rs754158869 CA6635671	9	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6635668 rs750848875	10	A>S		No	ClinGen ExAC gnomAD
rs563393027 CA6635667	11	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA385331316 rs1259301376	11	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200568028 CA6635666	12	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1482489760 CA385331299	13	A>V		No	ClinGen gnomAD
CA385331294 rs1248989098	14	S>A		No	ClinGen gnomAD
CA6635665 rs775064847	15	G>R		No	ClinGen ExAC gnomAD
rs1307552047 CA385331275	16	A>S		No	ClinGen gnomAD
rs1307552047 CA385331278	16	A>T		No	ClinGen gnomAD
rs764712544 CA6635664	16	A>V		No	ClinGen ExAC gnomAD
CA385331253 rs1337448142	18	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA385331232 rs1294239939	20	L>H		No	ClinGen gnomAD
CA385331230 rs1294239939	20	L>P		No	ClinGen gnomAD
CA385331220 rs759165869	21	T>I		No	ClinGen ExAC TOPMed gnomAD
rs759165869 CA6635663	21	T>S		No	ClinGen ExAC TOPMed gnomAD
CA385331212 rs1300115023	22	P>L		No	ClinGen gnomAD
rs11542646 CA6635661	23	S>L		No	ClinGen ExAC gnomAD
CA6635660 rs746819199	24	A>E		No	ClinGen ExAC gnomAD
CA385331201 rs746819199	24	A>V		No	ClinGen ExAC gnomAD
COSM1747157 rs2293450 CA6635657	25	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6635658 rs144845797	25	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1472138741 CA385331193	26	L>P		No	ClinGen gnomAD
rs779025464 CA6635656	27	P>H		No	ClinGen ExAC gnomAD
rs1405413413 CA385331189	27	P>S		No	ClinGen gnomAD
CA6635655 rs755145018	28	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	28	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749478722 CA237682417	29	A>G		No	ClinGen ExAC TOPMed gnomAD
rs915048004 CA237682427	29	A>T		No	ClinGen gnomAD
CA6635654 rs749478722	29	A>V		No	ClinGen ExAC TOPMed gnomAD
CA385331167 rs1470176860	31	L>F		No	ClinGen gnomAD
CA6635653 rs780442752	31	L>P		No	ClinGen ExAC gnomAD
CA385330820 rs1327513721	32	L>F		No	ClinGen gnomAD
CA6635650 rs767840117	34	R>W		No	ClinGen ExAC TOPMed gnomAD
CA385330799 rs1273088993	35	A>T		No	ClinGen gnomAD
rs1565849178 CA385330793	35	A>V		No	ClinGen Ensembl
CA385330788 rs1438627779	36	A>S		No	ClinGen gnomAD
rs1438627779 CA385330791	36	A>T		No	ClinGen gnomAD
rs757773553 CA385330779	37	P>A		No	ClinGen ExAC TOPMed gnomAD
CA385330777 rs1326481424	37	P>L		No	ClinGen TOPMed gnomAD
CA6635649 rs757773553	37	P>S		No	ClinGen ExAC TOPMed gnomAD
CA385330760 rs1343183254	38	T>M		No	ClinGen gnomAD
rs776218742 CA6635645	39	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6635646 rs776218742	39	A>V		No	ClinGen ExAC TOPMed gnomAD
rs367651199 CA6635642	40	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs760309857 CA6635643	40	V>I		No	ClinGen ExAC gnomAD
CA385330736 rs1277662441 COSM135597	41	H>Y	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs771811291 CA385330722	42	P>A		No	ClinGen ExAC gnomAD
rs771811291 CA6635641	42	P>T		No	ClinGen ExAC gnomAD
CA385330656 rs1354936022	45	D>E		No	ClinGen TOPMed gnomAD
rs1238649544 CA385330663	45	D>H		No	ClinGen TOPMed
CA6635615 rs781300850	46	Y>C		No	ClinGen ExAC gnomAD
rs1383015534 CA385330648	47	A>T		No	ClinGen TOPMed
rs376765679 CA6635612	51	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6635611 rs376765679	51	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1311242139 CA385330621	51	S>P		No	ClinGen gnomAD
CA237682050 rs11542645	54	P>S		No	ClinGen Ensembl
rs1408119722 CA385330589	55	K>E		No	ClinGen TOPMed
rs901967218 CA237682044	56	A>S		No	ClinGen TOPMed gnomAD
rs901967218 CA385330577	56	A>T		No	ClinGen TOPMed gnomAD
CA6635609 rs753250946	57	G>D		No	ClinGen ExAC gnomAD
CA385330557 rs1592224567	58	A>T		No	ClinGen Ensembl
CA385330544 rs981856729	59	A>S		No	ClinGen gnomAD
CA237682037 rs981856729	59	A>T		No	ClinGen gnomAD
rs755606914 CA6635607	62	R>C		No	ClinGen ExAC TOPMed gnomAD
rs41291993 CA6635606	62	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6635605 rs767087064	63	I>V		No	ClinGen ExAC gnomAD
rs761604716 CA6635604	64	V>M		No	ClinGen ExAC gnomAD
rs1592224549 CA385330471	66	V>G		No	ClinGen Ensembl
CA6635603 rs751399315	67	I>V		No	ClinGen ExAC gnomAD
rs1592224532 CA385330412	72	D>G		No	ClinGen Ensembl
CA385330398 rs1592224527	73	V>G		No	ClinGen Ensembl
TCGA novel	74	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6635600 rs114920447	76	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114920447 CA6635599	76	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759557816 CA6635598	78	G>E		No	ClinGen ExAC gnomAD
CA385330340 rs1422197318	78	G>R		No	ClinGen gnomAD
TCGA novel	82	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6635597 rs776857033	83	L>I		No	ClinGen ExAC TOPMed gnomAD
CA385330258 rs1416149862	86	L>V		No	ClinGen TOPMed gnomAD
rs1167476996 CA385330211	90	G>D		No	ClinGen gnomAD
rs1411589748 CA385330202	91	R>K		No	ClinGen gnomAD
rs1592224483 CA385330183	92	E>D		No	ClinGen Ensembl
rs1592224480 CA385330174	93	T>S		No	ClinGen Ensembl
rs771052890 CA6635596	94	R>K		No	ClinGen ExAC TOPMed gnomAD
rs771052890 CA385330164	94	R>T		No	ClinGen ExAC TOPMed gnomAD
CA385330037 rs1339230954	104	G>A		No	ClinGen gnomAD
rs1268934708 CA385330022	106	S>T		No	ClinGen TOPMed gnomAD
CA237681806 rs11542647	108	V>L		No	ClinGen Ensembl
CA237681802 rs891792979	113	M>T		No	ClinGen Ensembl
CA385329963 rs1433382923	115	G>D		No	ClinGen gnomAD
CA385329957 rs1334227581	116	T>A		No	ClinGen TOPMed gnomAD
rs1413120850 CA385329947	117	E>Q		No	ClinGen gnomAD
CA385329925 rs1377359373	118	G>A		No	ClinGen gnomAD
rs1052806561 CA237681792	120	V>I		No	ClinGen Ensembl
CA6635557 rs767727598	128	S>F		No	ClinGen ExAC gnomAD
VAR_074188	130	A>V		No	UniProt
rs762087122 CA6635556	132	I>V		No	ClinGen ExAC TOPMed gnomAD
CA237681764 rs906392844	133	K>E		No	ClinGen Ensembl
rs1046174761 CA237681758	134	I>S		No	ClinGen Ensembl
CA237681761 rs11542649	134	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA6635555 rs774568728	135	P>S		No	ClinGen ExAC gnomAD
CA385329629 rs1424007996	141	L>F		No	ClinGen gnomAD
CA237681745 rs200931947	146	N>D		No	ClinGen 1000Genomes
rs776099840 CA6635552	147	V>I		No	ClinGen ExAC TOPMed gnomAD
CA385329543 rs1592224255	148	I>L		No	ClinGen Ensembl
rs1253905000 CA385329539	148	I>T		No	ClinGen TOPMed
CA6635551 rs770516652	151	P>R		No	ClinGen ExAC gnomAD
CA385329492 rs1472909383	152	I>T		No	ClinGen TOPMed
rs1436695495 CA385329455	155	R>K		No	ClinGen gnomAD
CA6635550 rs746532183	156	G>D		No	ClinGen ExAC gnomAD
CA6635549 rs777502424	157	P>A		No	ClinGen ExAC gnomAD
CA6635548 rs771848985	157	P>L		No	ClinGen ExAC gnomAD
rs1592645580 CA385329216	163	F>I		No	ClinGen Ensembl
rs778645597 CA385329169	165	P>L		No	ClinGen ExAC gnomAD
rs778645597 CA6635528	165	P>R		No	ClinGen ExAC gnomAD
TCGA novel	166	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1399691093 CA385329119	168	A>D		No	ClinGen gnomAD
rs1592645563 CA385329096	169	E>D		No	ClinGen Ensembl
rs1405184811 CA385329107	169	E>Q		No	ClinGen gnomAD
rs371739562 CA237681350	171	P>S		No	ClinGen ESP TOPMed
rs1592645550 CA385329021	174	M>I		No	ClinGen Ensembl
CA385329029 rs1592645553	174	M>V		No	ClinGen Ensembl
rs1178489276 CA385328988	176	M>I		No	ClinGen gnomAD
CA385328970 rs1163126969	177	S>N		No	ClinGen Ensembl
rs367628100 CA237681343	189	V>I		No	ClinGen ESP
CA385328637 rs1205412982	197	A>S		No	ClinGen TOPMed
TCGA novel	197	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA237681337 rs868708981	200	G>D		No	ClinGen Ensembl
CA385374682 rs1392850645	207	G>D		No	ClinGen gnomAD
rs754334660 CA6635491	217	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6635490 rs766998026	219	L>F		No	ClinGen ExAC gnomAD
CA385374591 rs1249854938	221	N>S		No	ClinGen gnomAD
COSM192046 rs200966693 CA6635488	224	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs763560034 CA6635487	225	K>R		No	ClinGen ExAC gnomAD
rs762636588 CA6635486	226	A>V		No	ClinGen ExAC gnomAD
TCGA novel	228	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1592645312 CA385374530	230	Y>*		No	ClinGen Ensembl
CA385374531 rs1592645318	230	Y>F		No	ClinGen Ensembl
rs1333838461 CA385374526	231	S>A		No	ClinGen gnomAD
rs1592645291 CA385374463	241	R>S		No	ClinGen Ensembl
CA6635484 rs769531067	244	N>S		No	ClinGen ExAC gnomAD
CA237689389 rs866546709	248	H>Y		No	ClinGen TOPMed gnomAD
rs138308594 CA6635483	251	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	256	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142007312 CA6635481	257	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385374301 rs1461296669	260	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1286021262 CA385374214	266	A>T		No	ClinGen TOPMed gnomAD
rs1565848215 CA385374207	267	L>P		No	ClinGen Ensembl
rs1592644979 CA385374202	268	V>G		No	ClinGen Ensembl
rs1339163500 CA385374194	269	Y>F		No	ClinGen TOPMed
CA237689015 rs1042001 VAR_048371	274	E>Q		No	ClinGen UniProt Ensembl dbSNP
CA385374151 rs1284724122	275	P>S		No	ClinGen TOPMed
rs1592644966 CA385374133	278	A>S		No	ClinGen Ensembl
rs1276159884 CA385374117	281	R>G		No	ClinGen TOPMed
rs780433436 CA6635451	285	T>I		No	ClinGen ExAC gnomAD
CA237688999 rs916031834	290	A>S		No	ClinGen TOPMed
rs867442552 CA237688996	291	E>K		No	ClinGen Ensembl
CA385374042 rs1402009927	293	F>C		No	ClinGen gnomAD
CA385374045 rs1476821142	293	F>I		No	ClinGen TOPMed
rs200319393 CA237688992	294	R>G		No	ClinGen 1000Genomes
rs1201675414 CA385374025	296	Q>K		No	ClinGen TOPMed
rs1430142212 CA385374008	298	G>R		No	ClinGen TOPMed
rs1233943579 CA385374001	299	Q>K		No	ClinGen TOPMed gnomAD
CA385373995 rs1387538467	300	D>N		No	ClinGen TOPMed
rs1401633854 CA385373990	300	D>V		No	ClinGen TOPMed
rs778003361 CA237688968	301	V>I		No	ClinGen Ensembl
CA6635445 rs752204083	303	L>Q		No	ClinGen ExAC gnomAD
rs1328610290 CA385373942	308	I>V		No	ClinGen Ensembl
CA6635443 rs542763979	309	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs11542644 CA237688948	315	G>V		No	ClinGen Ensembl
CA385373860 rs1200965488	318	V>L		No	ClinGen gnomAD
rs1231644540 CA385373830	323	G>S		No	ClinGen gnomAD
CA385373824 rs755340059	324	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA385373798 rs1351237602	328	A>T		No	ClinGen TOPMed
CA385373763 rs1565848098	333	P>H		No	ClinGen Ensembl
CA385373725 rs1329185982	339	M>T		No	ClinGen gnomAD
rs1592644773 CA385373714	341	T>A		No	ClinGen Ensembl
TCGA novel	345	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6635423 rs765948611	349	T>I		No	ClinGen ExAC gnomAD
CA6635422 rs755858646	353	S>F		No	ClinGen ExAC
CA6635421 rs750171418	354	I>T		No	ClinGen ExAC gnomAD
CA6635418 rs774460776	357	V>I		No	ClinGen ExAC gnomAD
rs372401715 CA6635394	360	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs933537224 CA237687780	361	Y>C		No	ClinGen Ensembl
rs1259707982 CA385373366	367	L>*		No	ClinGen TOPMed
CA385373362 rs1475630582	367	L>F		No	ClinGen TOPMed
CA385373352 rs1592643950	369	D>A		No	ClinGen Ensembl
CA385373346 rs1302554346	370	P>A		No	ClinGen gnomAD
CA6635388 rs775419624	372	P>S		No	ClinGen ExAC TOPMed gnomAD
rs923436881 CA237687766	375	T>A		No	ClinGen gnomAD
CA237687764 rs943527181	377	A>T		No	ClinGen TOPMed gnomAD
CA385373265 rs1358090472	383	T>A		No	ClinGen gnomAD
rs747376704 CA6635383 COSM1299688	386	S>L	Variant assessed as Somatic; 0.0 impact. central_nervous_system urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA385373243 rs1426259250	387	R>C		No	ClinGen gnomAD
rs1186147893 CA385373199	394	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	405	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187408022 CA385373119	406	R>C		No	ClinGen TOPMed
rs755679536 CA6635378	406	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6635377 rs745460216	407	I>M		No	ClinGen ExAC
CA385373097 rs781006746	409	D>G		No	ClinGen ExAC gnomAD
CA6635376 rs781006746	409	D>V		No	ClinGen ExAC gnomAD
COSM1705822 CA6635375 rs568588220	410	P>S	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA385373078 rs1565847422	412	I>T		No	ClinGen Ensembl
CA237687734 rs1051700160	412	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs925433137 CA237687731	416	E>G		No	ClinGen Ensembl
COSM192044 CA6635373 rs777770019	419	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA385373025 rs1565847413	420	V>I		No	ClinGen Ensembl
CA385373013 rs1338049690	422	R>C		No	ClinGen TOPMed gnomAD
rs1338049690 CA385373011	422	R>G		No	ClinGen TOPMed gnomAD
CA385373010 rs1279663011	422	R>H		No	ClinGen TOPMed gnomAD
CA385372996 rs1592643872	424	V>G		No	ClinGen Ensembl
CA6635360 rs769127457	430	D>N		No	ClinGen ExAC gnomAD
rs745377010 CA6635359	432	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1157350251 CA385372920	433	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA385372870 rs1390567688	441	L>M		No	ClinGen TOPMed gnomAD
CA385372834 rs1592643625	446	L>F		No	ClinGen Ensembl
CA385372830 rs1169561253	446	L>P		No	ClinGen gnomAD
CA385372816 rs888471798 CA237687513	448	E>D		No	ClinGen TOPMed gnomAD
CA385372801 rs770694386	450	D>E		No	ClinGen ExAC gnomAD
CA6635356 rs746709831	451	K>E		No	ClinGen ExAC gnomAD
CA385372790 rs758248124	452	L>S		No	ClinGen ExAC gnomAD
CA6635354 rs758248124	452	L>W		No	ClinGen ExAC gnomAD
rs1456296980 CA385372781	453	T>I		No	ClinGen gnomAD
CA385372780 rs1198897487	454	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1355276436 CA385372766	456	R>C		No	ClinGen gnomAD
rs778911180 CA6635352	456	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA385372768 rs1355276436	456	R>S		No	ClinGen gnomAD
rs377482532 CA237687501	458	R>W		No	ClinGen ESP TOPMed
CA6635351 rs374052119	460	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs200610844 CA6635350	462	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs766490903 CA6635349	462	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA6635347 rs750674096	469	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	477	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385372619 rs1592643574	478	M>T		No	ClinGen Ensembl
CA385372602 rs1418675075	480	K>N		No	ClinGen TOPMed
rs762250167 CA6635345	482	V>I		No	ClinGen ExAC gnomAD
CA6635343 rs774311995	489	K>R		No	ClinGen ExAC TOPMed gnomAD
CA385372543 rs1565847209	490	G>R		No	ClinGen Ensembl
rs145015204 CA6635342	493	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	494	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs939384140 CA237687469	496	A>T		No	ClinGen Ensembl
rs1592643192 CA385372471	498	E>D		No	ClinGen Ensembl
CA6635314 rs149926323	499	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6635312 rs747802482	501	H>N		No	ClinGen ExAC
rs774162332 CA6635311	501	H>R		No	ClinGen ExAC TOPMed gnomAD
CA6635310 rs768469953	505	Q>R	Variant assessed as Somatic; 0.0001855 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6635309 rs749173114	506	A>S		No	ClinGen ExAC TOPMed gnomAD
CA385372393 rs1394589041	509	M>I		No	ClinGen TOPMed
TCGA novel	510	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781187712 CA6635305	512	P>H		No	ClinGen ExAC TOPMed gnomAD
CA6635306 rs781187712	512	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6635307 rs756119132	512	P>T		No	ClinGen ExAC gnomAD
rs1045153709 CA385372375	513	I>F		No	ClinGen gnomAD
rs1045153709 CA237687239	513	I>V		No	ClinGen gnomAD
rs1399968530 CA385372350	516	A>V		No	ClinGen gnomAD
rs757481056 CA6635304	518	A>G		No	ClinGen ExAC gnomAD
rs139598306 CA6635303	519	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6635302 rs764483389	520	A>G		No	ClinGen ExAC gnomAD
rs1422540903 CA385372328	520	A>S		No	ClinGen gnomAD
rs11542643 CA237687226	522	K>N		No	ClinGen Ensembl
CA6635300 rs147799513	525	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA690204174 rs1343871938	526	E>G		No	ClinGen TOPMed
CA6635299 rs369535102	527	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA385372277 rs1447413247	528	S>A		No	ClinGen gnomAD
rs144267158 CA6635298	529	S>L		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with P06576

4 regional properties for P06576

Type	Name	Position	InterPro Accession
domain	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain	186 - 405	IPR000194
domain	AAA+ ATPase domain	198 - 382	IPR003593
domain	ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain	63 - 129	IPR004100
active_site	ATPase, alpha/beta subunit, nucleotide-binding domain, active site	396 - 405	IPR020003

Functions

		Description
EC Number	7.1.2.2	Hydron translocation linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

14 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
mitochondrial membrane	Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.
mitochondrial nucleoid	The region of a mitochondrion to which the DNA is confined.
mitochondrial proton-transporting ATP synthase complex	A proton-transporting ATP synthase complex found in the mitochondrial membrane.
mitochondrial proton-transporting ATP synthase, catalytic core	The hexamer, comprising three alpha and three beta subunits, that possesses the catalytic activity of the mitochondrial hydrogen-transporting ATP synthase.
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.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
proton-transporting ATP synthase complex	A proton-transporting two-sector ATPase complex that catalyzes the phosphorylation of ADP to ATP during oxidative phosphorylation. The complex comprises a membrane sector (F0) that carries out proton transport and a cytoplasmic compartment sector (F1) that catalyzes ATP synthesis by a rotational mechanism; the extramembrane sector (containing 3 a and 3 b subunits) is connected via the d-subunit to the membrane sector by several smaller subunits. Within this complex, the g and e subunits and the 9-12 c subunits rotate by consecutive 120 degree angles and perform parts of ATP synthesis. This movement is driven by the hydrogen ion electrochemical potential gradient.
proton-transporting ATP synthase complex, catalytic core F(1)	The sector of a hydrogen-transporting ATP synthase complex in which the catalytic activity resides; it comprises the catalytic core and central stalk, and is peripherally associated with a membrane, such as the plasma membrane or the mitochondrial inner membrane, when the entire ATP synthase is assembled.

5 GO annotations of molecular function

Name	Definition
angiostatin binding	Binding to angiostatin, a proteolytic product of plasminogen or plasmin containing at least one intact kringle domain, and which is an inhibitor of angiogenesis.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
MHC class I protein binding	Binding to a major histocompatibility complex class I molecule; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation.
proton-transporting ATP synthase activity, rotational mechanism	Enables the synthesis of ATP from ADP and phosphate by the transfer of protons from one side of a membrane to the other by a rotational mechanism driven by a gradient according to the reaction: ADP + H2O + phosphate + H+(in) -> ATP + H+(out).
proton-transporting ATPase activity, rotational mechanism	Enables the transfer of protons from one side of a membrane to the other according to the reaction: ATP + H2O + H+(in) = ADP + phosphate + H+(out), by a rotational mechanism.

12 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
ATP biosynthetic process	The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cellular response to interleukin-7	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-7 stimulus.
generation of precursor metabolites and energy	The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances.
lipid metabolic process	The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids.
negative regulation of cell adhesion involved in substrate-bound cell migration	The disassembly of adhesions at the front and rear of a migrating cell. At the leading edge, adhesion disassembly accompanies the formation of new protrusions; at the cell rear, it promotes tail retraction.
osteoblast differentiation	The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.
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.
proton motive force-driven ATP synthesis	The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis.
proton motive force-driven mitochondrial ATP synthesis	The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis.
proton transmembrane transport	The directed movement of a proton across a membrane.
regulation of intracellular pH	Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P00829	ATP5F1B	ATP synthase subunit beta, mitochondrial	Bos taurus (Bovine)	PR
Q5ZLC5	ATP5F1B	ATP synthase subunit beta, mitochondrial	Gallus gallus (Chicken)	PR
Q05825	ATPsynbeta	ATP synthase subunit beta, mitochondrial	Drosophila melanogaster (Fruit fly)	PR
P56480	Atp5f1b	ATP synthase subunit beta, mitochondrial	Mus musculus (Mouse)	PR
P10719	Atp5f1b	ATP synthase subunit beta, mitochondrial	Rattus norvegicus (Rat)	PR
P46561	atp-2	ATP synthase subunit beta, mitochondrial	Caenorhabditis elegans	PR

10	20	30	40	50	60
MLGFVGRVAA	APASGALRRL	TPSASLPPAQ	LLLRAAPTAV	HPVRDYAAQT	SPSPKAGAAT
70	80	90	100	110	120
GRIVAVIGAV	VDVQFDEGLP	PILNALEVQG	RETRLVLEVA	QHLGESTVRT	IAMDGTEGLV
130	140	150	160	170	180
RGQKVLDSGA	PIKIPVGPET	LGRIMNVIGE	PIDERGPIKT	KQFAPIHAEA	PEFMEMSVEQ
190	200	210	220	230	240
EILVTGIKVV	DLLAPYAKGG	KIGLFGGAGV	GKTVLIMELI	NNVAKAHGGY	SVFAGVGERT
250	260	270	280	290	300
REGNDLYHEM	IESGVINLKD	ATSKVALVYG	QMNEPPGARA	RVALTGLTVA	EYFRDQEGQD
310	320	330	340	350	360
VLLFIDNIFR	FTQAGSEVSA	LLGRIPSAVG	YQPTLATDMG	TMQERITTTK	KGSITSVQAI
370	380	390	400	410	420
YVPADDLTDP	APATTFAHLD	ATTVLSRAIA	ELGIYPAVDP	LDSTSRIMDP	NIVGSEHYDV
430	440	450	460	470	480
ARGVQKILQD	YKSLQDIIAI	LGMDELSEED	KLTVSRARKI	QRFLSQPFQV	AEVFTGHMGK
490	500	510	520
LVPLKETIKG	FQQILAGEYD	HLPEQAFYMV	GPIEEAVAKA	DKLAEEHSS