AiPD: Autoinhibited Protein Database

Q9BWV2

Gene name	SPATA9
Protein name	Spermatogenesis-associated protein 9
Names	Testis development protein NYD-SP16
Species	Homo sapiens (Human)
KEGG Pathway	hsa:83890
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

16-89 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

16-89 (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

1 structures for Q9BWV2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BWV2-F1	Predicted				AlphaFoldDB

190 variants for Q9BWV2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	2	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754471101 CA3348740	5	P>S		No	ClinGen ExAC gnomAD
TCGA novel	8	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs576306492 CA3348738	8	W>G		No	ClinGen 1000Genomes ExAC gnomAD
rs766835726 CA3348737	9	I>M		No	ClinGen ExAC gnomAD
CA360454422 rs1308821867	10	C>R		No	ClinGen TOPMed gnomAD
CA122894099 rs1032643846	15	K>E		No	ClinGen Ensembl
COSM1071378 rs752365649 CA3348736	15	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1267021040 CA360454281	18	S>P		No	ClinGen gnomAD
TCGA novel	19	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3348735 rs371471252	20	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs200330491	21	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs200330491 CA360454117	21	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1233278578 CA360454107	22	E>*		No	ClinGen TOPMed gnomAD
rs1233278578 CA360454112 COSM3828627	22	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs150799280 CA3348717	23	G>E		No	ClinGen ESP ExAC gnomAD
CA360454066 rs1220388042	24	I>T		No	ClinGen TOPMed
CA3348714 rs757639123	27	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3348716 rs750936529	27	A>S		No	ClinGen ExAC gnomAD
rs757639123 CA3348715	27	A>V		No	ClinGen ExAC TOPMed gnomAD
CA360453992 rs1366025876	28	I>T		No	ClinGen gnomAD
rs1340350394 CA360453999	28	I>V		No	ClinGen gnomAD
CA360453928 rs1299151168	31	L>F		No	ClinGen gnomAD
TCGA novel	32	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751781049 CA3348713	33	D>G		No	ClinGen ExAC TOPMed gnomAD
rs763080355 CA3348711	36	K>R		No	ClinGen ExAC gnomAD
rs1287887246 CA360453805	37	D>G		No	ClinGen TOPMed
CA360453811 rs1466555257	37	D>Y		No	ClinGen gnomAD
CA3348709 rs765371815	39	F>I		No	ClinGen ExAC gnomAD
CA3348708 rs760620206	40	P>A		No	ClinGen ExAC gnomAD
CA360453763 rs760620206	40	P>S		No	ClinGen ExAC gnomAD
rs1263685384 CA360453753	41	T>A		No	ClinGen gnomAD
CA122893837 rs375328909	44	R>I		No	ClinGen ESP TOPMed
CA360453708 rs1440361782	44	R>S		No	ClinGen gnomAD
rs77694373 CA122893809	49	N>D		No	ClinGen Ensembl
CA3348704 rs774048215	50	Q>R		No	ClinGen ExAC gnomAD
CA360451974 rs1264066198	52	R>K		No	ClinGen TOPMed
rs138690445 CA3348684	53	E>Q		No	ClinGen ESP ExAC
CA360451962 rs1329421922	54	P>A		No	ClinGen gnomAD
CA360451954 rs780250198	55	A>E		No	ClinGen ExAC TOPMed gnomAD
COSM3393722 CA3348683 rs780250198	55	A>V	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1429740287 CA360451922	60	K>E		No	ClinGen TOPMed
rs1403524411 CA360451920	60	K>I		No	ClinGen TOPMed gnomAD
rs868152854 CA122890717	65	I>T		No	ClinGen Ensembl
rs771481824 CA3348679	70	I>M		No	ClinGen ExAC gnomAD
CA3348680 rs781659301	70	I>T		No	ClinGen ExAC TOPMed gnomAD
rs747563136 CA3348678	71	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3348676 rs114848300	72	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs142489768 CA360451841	72	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142489768 CA3348675	72	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779318722 CA3348674	73	A>E		No	ClinGen ExAC gnomAD
TCGA novel	73	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369357734 CA3348672	77	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375220643 CA3348671	77	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1223623085 CA360451801	79	L>S		No	ClinGen gnomAD
TCGA novel	79	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3348670 rs538125731	80	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569343324 CA3348667	82	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1262992242 CA360451777	82	I>T		No	ClinGen TOPMed
CA360451775 rs1205200430	83	S>P		No	ClinGen TOPMed
rs758679042 CA122890669	85	S>P		No	ClinGen Ensembl
rs1374222866 CA360451739	88	S>L		No	ClinGen gnomAD
CA3348666 rs769498686	89	V>A		No	ClinGen ExAC gnomAD
rs769498686 CA3348665	89	V>E		No	ClinGen ExAC gnomAD
CA3348664 rs375541964	91	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs776060458 CA3348663	92	L>P		No	ClinGen ExAC gnomAD
rs770431318 CA3348662	94	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1426239452 CA360451702	95	P>S		No	ClinGen gnomAD
CA3348660 rs778365308	99	C>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	100	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360451668 rs1419903428	100	R>T		No	ClinGen gnomAD
rs1319521387 CA360451662	101	L>F		No	ClinGen gnomAD
CA3348659 rs55796768	102	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360451649 rs1386572716	103	E>A		No	ClinGen gnomAD
CA360451631 rs1477339821	105	R>G		No	ClinGen gnomAD
rs748615336 CA3348658	106	D>N		No	ClinGen ExAC gnomAD
rs1200612371 CA360451601	107	I>L		No	ClinGen TOPMed gnomAD
rs1200612371 CA360451603	107	I>V		No	ClinGen TOPMed gnomAD
rs143465675 CA3348657	108	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159646484 CA360451591	108	S>T		No	ClinGen TOPMed gnomAD
CA122890636 rs374536214	109	G>A		No	ClinGen TOPMed gnomAD
rs140676515 CA3348656	110	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3348655 rs372107323 COSM1634382	110	R>H	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs140676515 CA360451568	110	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202118658 CA3348653	113	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751433579 CA3348652	113	R>K		No	ClinGen ExAC gnomAD
rs751433579 CA360451536	113	R>T		No	ClinGen ExAC gnomAD
rs1454839489 CA360451527	114	E>K		No	ClinGen gnomAD
CA360451505 rs1350153408	115	V>A		No	ClinGen TOPMed
CA3348651 rs764129869	116	N>S		No	ClinGen ExAC TOPMed gnomAD
rs547580466 CA3348649	117	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138300432 CA3348650	117	A>T		No	ClinGen ExAC TOPMed gnomAD
rs547580466 CA3348648	117	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759120942 COSM1439265 CA3348647	118	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765755260 CA3348645	120	Q>*		No	ClinGen ExAC gnomAD
rs760280125 CA3348644	121	P>T		No	ClinGen ExAC gnomAD
CA3348642 rs565088049	123	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs565088049 CA360451413	123	Y>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200485942 CA3348640	125	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs769177418 CA3348639	126	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA122873842 rs769770069	128	R>G		No	ClinGen Ensembl
CA3348617 rs749712901	128	R>K		No	ClinGen ExAC gnomAD
rs1359712892 CA360470001	128	R>S		No	ClinGen gnomAD
rs1054012363 CA360469973	130	G>C		No	ClinGen TOPMed gnomAD
rs1237483898 CA360469970	130	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1054012363 CA122873838	130	G>R		No	ClinGen TOPMed gnomAD
rs1054012363 CA360469976	130	G>S		No	ClinGen TOPMed gnomAD
rs1237483898 CA360469966	130	G>V		No	ClinGen gnomAD
CA3348615 rs775566784	134	E>Q		No	ClinGen ExAC gnomAD
CA3348614 rs770107449	136	I>N		No	ClinGen ExAC gnomAD
rs1580292930 CA360469867	138	F>L		No	ClinGen Ensembl
rs1376103197 CA360469859	139	P>A		No	ClinGen gnomAD
TCGA novel	141	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141714191 CA3348613	144	L>*		No	ClinGen ESP ExAC gnomAD
rs1292161533 CA360469827	144	L>I		No	ClinGen gnomAD
CA360469806 rs1165770951	147	I>V		No	ClinGen gnomAD
rs1286039038 CA360469794	148	I>M		No	ClinGen TOPMed
CA360469796 rs1218193790	148	I>T		No	ClinGen TOPMed
CA360469792 rs1213007469	149	Y>H		No	ClinGen gnomAD
CA360469780 rs1418078220	150	A>V		No	ClinGen gnomAD
rs1450694902 CA360469774	151	S>L		No	ClinGen TOPMed
rs781263743 CA3348612	156	I>V		No	ClinGen ExAC gnomAD
rs757311257	158	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3348596 rs752086093	159	A>G		No	ClinGen ExAC gnomAD
CA360469442 rs1446078951	159	A>P		No	ClinGen TOPMed gnomAD
CA360469435 rs1290759310	160	V>D		No	ClinGen TOPMed
CA360469405 rs1254882228	164	A>V		No	ClinGen TOPMed gnomAD
rs764761127 CA3348594	165	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3348592 rs775864511	167	K>N		No	ClinGen ExAC
rs1292006902 CA360469352	172	I>S		No	ClinGen TOPMed
CA122872738 rs1007814933	175	E>D		No	ClinGen TOPMed
rs144698162 CA360469307	178	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144698162 CA3348591	178	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1366841844 CA360469303	179	I>T		No	ClinGen TOPMed
CA3348589 rs776738975	179	I>V		No	ClinGen ExAC TOPMed gnomAD
CA122872732 rs372532649	180	R>K		No	ClinGen ESP
rs1459460811 CA360469292	181	Q>*		No	ClinGen TOPMed
CA3348588 rs770976717	183	R>K		No	ClinGen ExAC gnomAD
CA3348587 rs747131464	183	R>S		No	ClinGen ExAC gnomAD
CA3348585 rs768523594	185	E>D		No	ClinGen ExAC
CA3348586 rs752656355	185	E>K		No	ClinGen ExAC TOPMed
CA3348584 rs749189025	186	S>C		No	ClinGen ExAC
TCGA novel	187	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	188	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336115470 CA360469242	188	N>Y		No	ClinGen gnomAD
CA122872721 rs933462557	189	C>R		No	ClinGen TOPMed gnomAD
CA122872719 rs766298168	191	K>N		No	ClinGen Ensembl
rs371331747 CA3348582	192	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	192	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1338226705 CA360469198	194	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3348580 rs141014929	194	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3348578 rs751168661	196	P>T		No	ClinGen ExAC gnomAD
CA3348576 rs763706037	199	S>L		No	ClinGen ExAC gnomAD
CA122872707 rs943202819	200	E>K		No	ClinGen TOPMed gnomAD
rs1339190226 CA360469147	202	M>I		No	ClinGen gnomAD
CA360469149 rs1194567731	202	M>T		No	ClinGen gnomAD
CA360469152 rs1265611126	202	M>V		No	ClinGen gnomAD
rs763483822 CA3348575	203	F>L		No	ClinGen ExAC gnomAD
rs1229924660 CA360469132	204	A>V		No	ClinGen gnomAD
CA360469116 rs1338872444	207	E>K		No	ClinGen gnomAD
VAR_051375 rs34297786 CA3348574	209	K>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148514157 CA3348572	212	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148514157 CA3348573	212	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1409281186 CA360469057	215	S>L		No	ClinGen gnomAD
CA3348568 rs772172597	217	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3348566 rs749202530	217	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3348567 rs772172597	217	P>T		No	ClinGen ExAC TOPMed gnomAD
rs745720822 CA3348563	220	P>L		No	ClinGen ExAC gnomAD
CA360468995 rs1180334119	225	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs973066112 CA122872685	226	P>L		No	ClinGen Ensembl
rs780974376 CA3348562	226	P>S		No	ClinGen ExAC gnomAD
rs1197862460 CA360468982	227	K>*		No	ClinGen gnomAD
rs139907956 CA122872681	228	L>I		No	ClinGen ESP ExAC gnomAD
rs139907956 CA3348561	228	L>V		No	ClinGen ESP ExAC gnomAD
CA360468966 rs1291397921	230	A>T		No	ClinGen gnomAD
CA122872677 rs1020081202	231	N>K		No	ClinGen TOPMed gnomAD
rs1561391904 CA360468939	233	Q>H		No	ClinGen Ensembl
CA3348559 rs751258621	234	S>N		No	ClinGen ExAC gnomAD
CA360468931 rs1439380475	234	S>R		No	ClinGen gnomAD
rs1355504834 CA360468926	235	N>S		No	ClinGen TOPMed
CA360468903 rs1465820589	238	Q>P		No	ClinGen TOPMed
rs1301616461 CA360468884	241	H>Y		No	ClinGen TOPMed
CA360468858 rs1453978503	245	D>N		No	ClinGen TOPMed
rs757867207 CA3348556	247	S>L		No	ClinGen ExAC gnomAD
rs1363786320 CA360468836	248	A>T		No	ClinGen TOPMed
rs753223762 CA3348555	249	E>K		No	ClinGen ExAC gnomAD
CA360468814 rs200808648 CA3348554	250	M>I		No	ClinGen ExAC TOPMed gnomAD
rs755364476 CA3348553	251	N>H		No	ClinGen ExAC gnomAD
rs868134825 CA122872662	252	E>D		No	ClinGen Ensembl
rs1157431346 CA360468784	252	E>V		No	ClinGen gnomAD

No associated diseases with Q9BWV2

No regional properties for Q9BWV2

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BWV2

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3T021	SPATA9	Spermatogenesis-associated protein 9	Bos taurus (Bovine)	PR

10	20	30	40	50	60
MPIKPVGWIC	GQVLKNFSGR	IEGIQKAIMD	LVDEFKDEFP	TILRLSQSNQ	KREPAQKTSK
70	80	90	100	110	120
IRMAIALAKI	NRATLIRGLN	SISRSSKSVA	KLLHPQLACR	LLELRDISGR	LLREVNAPRQ
130	140	150	160	170	180
PLYNIQVRKG	SLFEIISFPA	KTALTSIIYA	SYAALIYLAV	CVNAVLKKVK	NIFQEEESIR
190	200	210	220	230	240
QNREESENCR	KAFSEPVLSE	PMFAEGEIKA	KPYRSLPEKP	DISDYPKLLA	NKQSNNIQVL
250
HSVFDQSAEM	NEQI