AiPD: Autoinhibited Protein Database

Q8IYV9

Gene name	IZUMO1
Protein name	Izumo sperm-egg fusion protein 1
Names	Oocyte binding/fusion factor, OBF, Sperm-specific protein izumo
Species	Homo sapiens (Human)
KEGG Pathway	hsa:284359
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

301-350 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

301-350 (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

8 structures for Q8IYV9

Entry ID	Method	Resolution	Chain	Position	Source
5F4E	X-ray	240 A	A	22-254	PDB
5F4T	X-ray	308 A	A	22-254	PDB
5F4V	X-ray	290 A	A	22-268	PDB
5JK9	X-ray	210 A	A/B/C/D/E/F	22-255	PDB
5JKC	X-ray	290 A	A	22-255	PDB
5JKD	X-ray	290 A	A	22-255	PDB
5JKE	X-ray	286 A	A/C	22-255	PDB
AF-Q8IYV9-F1	Predicted				AlphaFoldDB

272 variants for Q8IYV9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs757035492 CA9557593	2	G>E		No	ClinGen ExAC gnomAD
CA406743119 rs1599761583	6	T>P		No	ClinGen Ensembl
CA309385030 rs1002114990	9	C>*		No	ClinGen TOPMed
CA406743061 rs748950506	11	A>E		No	ClinGen ExAC TOPMed gnomAD
CA9557592 rs748950506	11	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9557588 rs201483135	14	G>C		No	ClinGen ExAC gnomAD
rs1288385001 CA406743033	14	G>D		No	ClinGen gnomAD
CA9557587 rs201483135	14	G>S		No	ClinGen ExAC gnomAD
rs370772919 CA309384988	17	L>F		No	ClinGen ESP TOPMed
CA309384990 rs370772919	17	L>I		No	ClinGen ESP TOPMed
TCGA novel	18	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174898462 CA406742985	19	A>T		No	ClinGen gnomAD
rs970269514 CA309384986	19	A>V		No	ClinGen Ensembl
rs376346026 CA9557584	20	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9557585 rs766368253	20	E>K		No	ClinGen ExAC gnomAD
CA9557581 rs765399183	21	G>V		No	ClinGen ExAC gnomAD
rs149121500 CA9557580	23	V>L		No	ClinGen ESP ExAC gnomAD
CA9557578 rs772096244	24	I>T		No	ClinGen ExAC gnomAD
CA9557579 rs373691999	24	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs946544902 CA309384936	27	P>L		No	ClinGen TOPMed
rs916024727 CA309384935	28	S>Y		No	ClinGen Ensembl
CA309384914 rs370695018	30	V>A		No	ClinGen ESP
rs745781893 CA9557576	30	V>L		No	ClinGen ExAC TOPMed gnomAD
rs745781893 CA406742573	30	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	31	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216514130 CA406742560	31	L>R		No	ClinGen gnomAD
rs1264801416 CA406742564	31	L>V		No	ClinGen gnomAD
rs1306028494 CA406742552	32	A>E		No	ClinGen gnomAD
rs985013931 CA309384895	33	L>P		No	ClinGen gnomAD
CA309384894 rs748758233	34	K>R		No	ClinGen ExAC
rs748758233 CA9557573	34	K>T		No	ClinGen ExAC
CA9557571 rs777596270	39	D>E		No	ClinGen ExAC TOPMed gnomAD
CA309384877 rs867221375	42	P>L		No	ClinGen gnomAD
CA406742440 rs867221375	42	P>R		No	ClinGen gnomAD
rs748592828 CA9557569	44	H>R		No	ClinGen ExAC gnomAD
rs1382860540 CA406742420	46	D>H		No	ClinGen gnomAD
CA406742394 rs1430095410	49	H>Q		No	ClinGen TOPMed
rs377755047 CA9557567	49	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs374385533 CA9557565	53	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs750462479 CA9557563	54	M>I		No	ClinGen ExAC gnomAD
CA9557564 rs758500200	54	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1384236920 CA406742330	58	E>G		No	ClinGen gnomAD
rs1245312402 CA406742334	58	E>K		No	ClinGen gnomAD
CA9557561 rs762002583	60	A>T		No	ClinGen ExAC gnomAD
rs1380326596 CA406742311	61	V>G		No	ClinGen gnomAD
CA9557559 rs759315967	61	V>L		No	ClinGen ExAC gnomAD
rs759315967 CA9557558 COSM999065	61	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9557555 rs147003407	63	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147003407 CA9557556	63	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141352192 CA9557552	67	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568488042 CA406742244	71	E>A		No	ClinGen Ensembl
CA9557550 rs768919044 CA9557551	71	E>D		No	ClinGen ExAC TOPMed gnomAD
rs747353047 CA9557549	72	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	75	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406742219 rs1426659145	75	M>V		No	ClinGen gnomAD
CA9557547 rs147813550	76	G>R		No	ClinGen ESP ExAC TOPMed
CA9557546 rs201790934	77	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs778951328 CA406742200	78	V>F		No	ClinGen ExAC gnomAD
rs778951328 CA9557545	78	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9557516 rs750401701	85	K>N		No	ClinGen ExAC gnomAD
CA9557517 rs762768034	85	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA9557514 rs761263938	86	G>E		No	ClinGen ExAC gnomAD
rs1480901805 CA406742137	86	G>R		No	ClinGen gnomAD
CA9557515 rs761263938	86	G>V		No	ClinGen ExAC gnomAD
CA406742131 rs1599760841	87	S>A		No	ClinGen Ensembl
rs776179104 CA9557512	88	W>R		No	ClinGen ExAC gnomAD
CA9557511 rs373136061	89	S>N		No	ClinGen ESP ExAC TOPMed
CA406742109 rs1263115491	90	L>S		No	ClinGen gnomAD
rs972299591 CA309384238	92	K>N		No	ClinGen Ensembl
rs927719666 CA309384230	94	L>M		No	ClinGen TOPMed
rs144725353 CA9557509	98	T>R		No	ClinGen ESP ExAC
rs772431978 CA9557507	100	S>N		No	ClinGen ExAC gnomAD
rs746179871 CA9557505	101	D>H		No	ClinGen ExAC gnomAD
CA406742021 rs1207966752	103	K>N		No	ClinGen TOPMed
rs1268041583 CA406742027	103	K>Q		No	ClinGen gnomAD
rs781599576	104	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs944947619 CA309384199	104	G>S		No	ClinGen Ensembl
rs755224650 CA9557479	105	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs572291149 CA9557478	106	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA406741983 rs8108468	107	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406741987 rs1181477852	107	F>S		No	ClinGen gnomAD
rs151047643 CA9557476	108	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1358083715 CA406741941	113	W>*		No	ClinGen gnomAD
rs1568487500 CA406741939	114	M>V		No	ClinGen Ensembl
rs1291792597 CA406741923 COSM123816	116	H>Y	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9557473 rs755650357	117	L>S		No	ClinGen ExAC gnomAD
rs1371038883 CA406741909	118	Q>E		No	ClinGen TOPMed gnomAD
CA9557472 rs752169326	120	E>G		No	ClinGen ExAC gnomAD
CA309383718 rs112625145	120	E>K		No	ClinGen TOPMed
CA406741863 rs1351378718	122	F>I		No	ClinGen gnomAD
rs759175836 CA9557470	124	T>A		No	ClinGen ExAC gnomAD
rs1474863628 CA406741811	127	A>P		No	ClinGen gnomAD
TCGA novel	128	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406741804 rs1568487444	128	R>G		No	ClinGen Ensembl
CA406741801 rs774644494	128	R>L		No	ClinGen ExAC gnomAD
rs774644494 CA9557469 COSM171732	128	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1406398927 CA406741782	130	Q>E		No	ClinGen TOPMed gnomAD
CA9557445 rs199766108	133	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1302245463 CA406741694	134	Y>F		No	ClinGen TOPMed gnomAD
rs973441159 CA406741682	136	P>A		No	ClinGen TOPMed gnomAD
rs973441159 CA309383418	136	P>S		No	ClinGen TOPMed gnomAD
CA9557443 rs760616514	137	N>K		No	ClinGen ExAC gnomAD
rs1436501079 CA406741670	138	K>E		No	ClinGen gnomAD
CA9557442 rs775805530	138	K>R		No	ClinGen ExAC gnomAD
rs1335198955 CA406741659	139	C>F		No	ClinGen gnomAD
rs774489893 CA9557421	140	G>D		No	ClinGen ExAC gnomAD
rs1194694341 CA406741656	140	G>S		No	ClinGen TOPMed
rs142778758 CA9557420	141	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA406741452 rs1258044219	142	M>T		No	ClinGen gnomAD
rs1395683982 CA406741414	147	I>M		No	ClinGen TOPMed
rs1175215008 CA406741412	148	W>R		No	ClinGen gnomAD
rs776579152 CA9557418	149	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA406741390 rs1206040325	150	K>N		No	ClinGen gnomAD
CA9557417 rs768449040	152	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1364747715 CA406741370	153	K>R		No	ClinGen TOPMed
CA309382905 rs959079247	155	E>G		No	ClinGen gnomAD
rs1383244849 CA406741358	155	E>K		No	ClinGen TOPMed
CA9557416 rs746579877	156	V>I		No	ClinGen ExAC gnomAD
rs1341543311 CA406741346	157	H>N		No	ClinGen gnomAD
rs779418465 CA406741339	157	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778654232 CA9557412	158	A>D		No	ClinGen ExAC gnomAD
rs571522837 CA9557414	158	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9557413 rs571522837	158	A>T		No	ClinGen ExAC TOPMed gnomAD
rs146399718 COSM1525530 CA309382840	160	R>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs372951604 CA309382819	160	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372951604 CA9557410	160	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	162	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9557407 rs756562282	163	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1156715896 CA406741302	164	D>G		No	ClinGen gnomAD
rs770680743 CA9557405	164	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9557406 rs770680743	164	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs759603847 CA406741291	165	C>W		No	ClinGen ExAC TOPMed gnomAD
rs527699115 CA9557403	166	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9557371 rs748505096	167	E>D		No	ClinGen ExAC TOPMed gnomAD
CA406741285 rs1188239880	167	E>K		No	ClinGen TOPMed
CA9557370 rs140133186	168	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs551903814 CA309381695	168	R>W		No	ClinGen gnomAD
rs1002210285 CA309381689	170	V>M		No	ClinGen Ensembl
CA406741251 rs1191058186	171	E>Q		No	ClinGen gnomAD
TCGA novel	173	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440859164 CA406741184	179	I>M		No	ClinGen gnomAD
CA406741175 rs1449446151	181	D>A		No	ClinGen gnomAD
TCGA novel	181	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs575148968 CA9557368	182	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575148968 CA9557367	182	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	183	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758406565 CA9557366	183	E>V		No	ClinGen ExAC gnomAD
rs750628658 CA9557365	187	H>R		No	ClinGen ExAC gnomAD
CA9557364 rs765455055	188	Q>L		No	ClinGen ExAC gnomAD
CA9557363 rs760422018	189	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	190	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9557362 rs146107337	190	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406741097 rs1568486336	192	G>C		No	ClinGen Ensembl
rs1365922856 CA406741095	192	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs767410011 CA9557361	193	L>P		No	ClinGen ExAC gnomAD
TCGA novel	199	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406740921 rs1255930618	202	W>*		No	ClinGen TOPMed
rs916891640 CA309381426	202	W>C		No	ClinGen TOPMed
CA406740886 rs1413665506	205	N>Y		No	ClinGen gnomAD
TCGA novel	206	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	207	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406740865 rs1470589612	207	E>K		No	ClinGen gnomAD
rs1181011140 CA406740831	209	L>*		No	ClinGen gnomAD
rs1231475849 CA406740832	209	L>V		No	ClinGen TOPMed gnomAD
CA309381405 rs887245620	210	V>E		No	ClinGen TOPMed
rs201848636 CA9557340	211	S>C		No	ClinGen ExAC TOPMed gnomAD
rs991208182 CA309381403	211	S>T		No	ClinGen TOPMed
rs772755461 CA9557339	216	A>V		No	ClinGen ExAC gnomAD
CA406740735 rs1599756098	217	T>P		No	ClinGen Ensembl
CA406740723 rs1219598499	218	L>V		No	ClinGen gnomAD
CA9557337 rs761524860	220	K>M		No	ClinGen ExAC TOPMed gnomAD
rs141642542 CA9557335	221	P>S		No	ClinGen ESP ExAC gnomAD
rs942456902 CA309381336	222	M>I		No	ClinGen Ensembl
CA406740677 rs1351287256	222	M>T		No	ClinGen gnomAD
CA406740683 rs1228048342	222	M>V		No	ClinGen gnomAD
CA406740660 rs1309980657	223	V>G		No	ClinGen gnomAD
rs1568486066 CA406740640	225	P>L		No	ClinGen Ensembl
CA9557333 rs776013087	225	P>T		No	ClinGen ExAC gnomAD
rs772539519 CA9557332	226	E>Q		No	ClinGen ExAC gnomAD
CA406740609 rs1407509310	229	G>D		No	ClinGen TOPMed gnomAD
rs967220957 CA309381333	232	R>C		No	ClinGen TOPMed gnomAD
CA9557330 rs779042265 COSM1325159	232	R>H	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA406740590 rs967220957	232	R>S		No	ClinGen TOPMed gnomAD
CA406740580 rs1413677158	233	C>*		No	ClinGen TOPMed gnomAD
CA406740572 rs1477402898	234	E>D		No	ClinGen gnomAD
rs757215479 CA9557329	234	E>K		No	ClinGen ExAC TOPMed gnomAD
rs757215479 CA406740578	234	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA309381313 rs550621799	236	G>S		No	ClinGen Ensembl
CA406740540 rs1599755983	240	S>P		No	ClinGen Ensembl
CA406740531 rs1445172400	241	S>T		No	ClinGen gnomAD
rs1267284498 CA406740522	242	P>L		No	ClinGen gnomAD
rs778088208 CA9557327	243	A>T		No	ClinGen ExAC TOPMed gnomAD
CA406740517 rs1330155998	243	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA406740511 rs1290429663	244	T>M		No	ClinGen gnomAD
rs1490253755 CA406740516	244	T>P		No	ClinGen gnomAD
CA406740507 rs1367000425	245	I>N		No	ClinGen gnomAD
CA406740497 rs1275468688	246	I>M		No	ClinGen TOPMed gnomAD
CA9557326 rs754849843	248	F>L		No	ClinGen ExAC
TCGA novel	249	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9557325 rs201149176	249	H>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758063599 CA9557305	252	V>A		No	ClinGen ExAC TOPMed gnomAD
rs750387799 CA9557304	253	L>S		No	ClinGen ExAC gnomAD
rs560671190 CA9557303 COSM232562	256	M>I	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs978656682 CA309380978	262	P>S		No	ClinGen TOPMed
rs138875475 CA9557300	264	P>S		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs763787242 CA9557298	267	V>L		No	ClinGen ExAC gnomAD
CA309380973 rs563246145	268	T>I		No	ClinGen 1000Genomes gnomAD
rs760310289 CA9557297	269	P>L		No	ClinGen ExAC gnomAD
CA406740132 rs1435138135	271	E>*		No	ClinGen TOPMed
TCGA novel	271	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	274	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145934248 CA9557295	277	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311091471 CA406740091	277	S>P		No	ClinGen gnomAD
CA9557294 rs145934248	277	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774950355 CA9557293	280	L>P		No	ClinGen ExAC gnomAD
rs771310617 CA9557292	281	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1435673918 CA406740054	283	L>V		No	ClinGen TOPMed
CA406740048 rs1369433417	284	Q>*		No	ClinGen gnomAD
rs149174447 CA9557291	285	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA406740035 rs1163889275	286	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1163889275 CA406740036	286	E>Q		No	ClinGen gnomAD
rs1219471146 CA406740021	288	M>L		No	ClinGen TOPMed
CA406739996 rs1415626636	291	S>N		No	ClinGen gnomAD
CA309380908 rs145235451	291	S>R		No	ClinGen ESP
CA406739991 rs1190340587	292	R>H		No	ClinGen gnomAD
CA9557287 rs748388010	293	L>F		No	ClinGen ExAC gnomAD
rs1251204242 CA406739984	293	L>P		No	ClinGen gnomAD
rs1484346224 CA406739981	294	L>P		No	ClinGen gnomAD
rs771926164 CA9557285	294	L>V		No	ClinGen ExAC gnomAD
TCGA novel	296	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406739973 rs1322701906	296	L>M		No	ClinGen gnomAD
rs1217246346 CA406739955	299	C>R		No	ClinGen TOPMed
CA406739953 rs1315223330	299	C>Y		No	ClinGen TOPMed gnomAD
CA9557280 rs777264279	300	G>D		No	ClinGen ExAC gnomAD
rs753408617 CA9557281	300	G>R		No	ClinGen ExAC TOPMed gnomAD
CA406739935 rs1599754997	302	L>P		No	ClinGen Ensembl
rs1292885566 CA406739928	303	A>V		No	ClinGen gnomAD
rs901315547 CA309380888	304	L>M		No	ClinGen TOPMed
CA309380881 rs1018538074	304	L>R		No	ClinGen TOPMed
rs1351439252 CA406739912	306	T>N		No	ClinGen gnomAD
CA9557277 rs767034236	307	G>S		No	ClinGen ExAC gnomAD
CA406739907 rs1471762524	307	G>V		No	ClinGen gnomAD
CA406739894 rs1423239439	310	F>L		No	ClinGen TOPMed
rs1183074368 CA406739882	311	A>G		No	ClinGen gnomAD
rs975457000 CA309380639	313	F>I		No	ClinGen TOPMed
CA406739852 rs375884119	314	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9557263 rs375884119	314	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9557262 rs755650480	315	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780946380 CA9557260	317	K>*		No	ClinGen ExAC gnomAD
CA9557259 rs754571439	318	V>M		No	ClinGen ExAC gnomAD
rs752028073 CA9557257	319	I>M		No	ClinGen ExAC gnomAD
rs1365698081 CA406739819	320	D>Y		No	ClinGen gnomAD
CA406739802 rs1447540465	322	I>N		No	ClinGen gnomAD
rs1322243291 CA406739794	323	K>R		No	ClinGen gnomAD
CA9557256 rs766656914	327	F>S		No	ClinGen ExAC gnomAD
CA406739748 rs1400292517	331	S>R		No	ClinGen gnomAD
CA406739731 rs2307019	333	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758779644 CA9557255	333	A>T		No	ClinGen ExAC gnomAD
CA309380593 rs386810061	333	A>V		No	ClinGen Ensembl
VAR_055399 CA9557254 rs2307019	333	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371512927 CA9557251	334	A>D		No	ClinGen ESP ExAC gnomAD
CA9557252 rs762024912	334	A>S		No	ClinGen ExAC gnomAD
CA406739725 rs1440376935	335	E>*		No	ClinGen gnomAD
CA406739726 rs1440376935	335	E>Q		No	ClinGen gnomAD
CA9557250 rs764436767	337	T>N		No	ClinGen ExAC gnomAD
rs1283598772 CA406739673	342	E>G		No	ClinGen gnomAD
CA406739675 rs1408689202	342	E>Q		No	ClinGen TOPMed
CA9557249 rs778368561	346	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs146618238 CA9557248	347	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA406739632 rs1360370129	348	R>S		No	ClinGen gnomAD
CA9557247 rs770731531	350	Q>K		No	ClinGen ExAC gnomAD
CA406739615 rs1242329717	351	Q>K		No	ClinGen gnomAD

No associated diseases with Q8IYV9

1 regional properties for Q8IYV9

Type	Name	Position	InterPro Accession
domain	Izumo protein, immunoglobulin domain	168 - 255	IPR032699

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Cytoplasmic vesicle, secretory vesicle, acrosome membrane ; Single-pass type I membrane protein	Localizes initially to the acrosome membrane of the sperm head (both outer and inner acrosomal membranes) (PubMed:36070373) During the acrosome reaction, translocates to the plasma membrane (PubMed:15759005, PubMed:36070373)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
acrosomal membrane	The membrane that surrounds the acrosomal lumen. The acrosome is a special type of lysosome in the head of a spermatozoon that contains acid hydrolases and is concerned with the breakdown of the outer membrane of the ovum during fertilization.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
protein binding involved in heterotypic cell-cell adhesion	Binding to a protein or protein complex contributing to the adhesion of two different types of cells.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

5 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
fusion of sperm to egg plasma membrane involved in single fertilization	The binding and fusion of a sperm, with the plasma membrane of the oocyte as part of the process of single fertilization. In sperm with flagella, binding occurs at the posterior (post-acrosomal) region of the sperm head.
heterotypic cell-cell adhesion	The attachment of a cell to a cell of a different type via adhesion molecules.
single fertilization	The union of male and female gametes to form a zygote.
sperm-egg recognition	The initial contact step made between the sperm plasma membrane and outer layer of the egg during fertilization.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9D9J7	Izumo1	Izumo sperm-egg fusion protein 1	Mus musculus (Mouse)	PR
Q6AY06	Izumo1	Izumo sperm-egg fusion protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MGPHFTLLCA	ALAGCLLPAE	GCVICDPSVV	LALKSLEKDY	LPGHLDAKHH	KAMMERVENA
70	80	90	100	110	120
VKDFQELSLN	EDAYMGVVDE	ATLQKGSWSL	LKDLKRITDS	DVKGDLFVKE	LFWMLHLQKE
130	140	150	160	170	180
TFATYVARFQ	KEAYCPNKCG	VMLQTLIWCK	NCKKEVHACR	KSYDCGERNV	EVPQMEDMIL
190	200	210	220	230	240
DCELNWHQAS	EGLTDYSFYR	VWGNNTETLV	SKGKEATLTK	PMVGPEDAGS	YRCELGSVNS
250	260	270	280	290	300
SPATIINFHV	TVLPKMIKEE	KPSPNIVTPG	EATTESSISL	QPLQPEKMLA	SRLLGLLICG
310	320	330	340
SLALITGLTF	AIFRRRKVID	FIKSSLFGLG	SGAAEQTQVP	KEKATDSRQQ