AiPD: Autoinhibited Protein Database

A1A4V9

Gene name	CFAP119
Protein name	Cilia- and flagella-associated protein 119
Names	Coiled-coil domain-containing protein 189
Species	Homo sapiens (Human)
KEGG Pathway	hsa:90835
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-90 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-90 (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 A1A4V9

Entry ID	Method	Resolution	Chain	Position	Source
AF-A1A4V9-F1	Predicted				AlphaFoldDB

309 variants for A1A4V9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs886051920 CA10648281 RCV000273865	171	T>I	Glycogen phosphorylase kinase deficiency [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000391407 rs768683366 CA8013490	277	V>I	Variant assessed as Somatic; 0.0 impact. Glycogen phosphorylase kinase deficiency [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1321293766 CA395671246	3	N>K		No	ClinGen gnomAD
rs764782404 CA8013891	4	R>G		No	ClinGen ExAC TOPMed gnomAD
CA395671239 rs1390217066	4	R>H		No	ClinGen TOPMed gnomAD
rs1390217066 CA395671236	4	R>L		No	ClinGen TOPMed gnomAD
rs1426623756 CA395671215	6	T>I		No	ClinGen TOPMed gnomAD
rs1026227747 CA280547945	6	T>P		No	ClinGen Ensembl
CA395671212 rs1388907871	7	S>G		No	ClinGen gnomAD
rs1377554134 CA395671207	7	S>I		No	ClinGen TOPMed
CA395671206 rs1168490007	7	S>R		No	ClinGen gnomAD
rs1450589972 CA395671190	9	F>Y		No	ClinGen gnomAD
rs181301950 CA8013890	12	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395671168 rs1197125424	12	M>T		No	ClinGen TOPMed gnomAD
rs1267604018 CA395671163	13	R>G		No	ClinGen TOPMed gnomAD
CA280547942 rs1025068756	13	R>K		No	ClinGen TOPMed gnomAD
CA395671157 rs1481772938	14	V>L		No	ClinGen TOPMed gnomAD
CA395671158 rs1481772938	14	V>M		No	ClinGen TOPMed gnomAD
rs1009614040 CA280547936	15	Q>*		No	ClinGen TOPMed gnomAD
rs1229092945 CA395671150	15	Q>P		No	ClinGen gnomAD
rs1272874911 CA395671136	16	S>*		No	ClinGen TOPMed gnomAD
CA395671138 rs1341306272	16	S>A		No	ClinGen gnomAD
CA395671133 rs1272874911	16	S>L		No	ClinGen TOPMed gnomAD
CA395671110 rs1567275971	18	L>V		No	ClinGen Ensembl
rs776050196 CA8013889	19	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1303954599 CA395671076	20	H>P		No	ClinGen gnomAD
CA8013888 rs768326871	21	L>F		No	ClinGen ExAC gnomAD
CA395671011 rs1307460381	25	R>Q		No	ClinGen TOPMed gnomAD
CA395671001 rs1381520617	26	R>Q		No	ClinGen TOPMed
CA280547906 rs1053987760	26	R>W		No	ClinGen TOPMed
CA395670994 rs1411024462	27	E>K		No	ClinGen gnomAD
COSM1193840 rs201918052 CA8013887	28	A>T	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs571048217 CA280547899	28	A>V		No	ClinGen TOPMed
CA395670974 rs775198063	29	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8013886 rs775198063	29	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1477885972 CA395670959	31	D>E		No	ClinGen gnomAD
rs1040353363 CA280547891	31	D>Y		No	ClinGen TOPMed
CA280547890 rs549473011	32	R>G		No	ClinGen TOPMed gnomAD
CA280547889 rs994055176	32	R>H		No	ClinGen TOPMed gnomAD
CA280547884 rs897056156	33	S>G		No	ClinGen TOPMed
CA8013884 rs552922371	33	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA395670944 rs1439540203	34	S>*		No	ClinGen gnomAD
rs1205188903 CA395670946	34	S>A		No	ClinGen gnomAD
rs1199727768 CA395670931	36	H>P		No	ClinGen TOPMed gnomAD
rs1199727768 CA395670932	36	H>R		No	ClinGen TOPMed gnomAD
rs745859898 CA8013883	37	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1262397575 CA395670921	38	S>P		No	ClinGen gnomAD
CA395670916 rs1284893113	39	A>T		No	ClinGen gnomAD
rs1348808841 CA395670896	40	A>V		No	ClinGen gnomAD
rs1567275559 CA395670888	41	R>W		No	ClinGen Ensembl
CA8013881 rs531288450	42	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531288450 CA280547858	42	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs905849694 CA280547853	43	R>H		No	ClinGen TOPMed gnomAD
rs1223366387 CA395670845	44	A>G		No	ClinGen gnomAD
CA280547836 rs1044390500	46	V>M		No	ClinGen gnomAD
CA395670800 rs1596729103	47	R>P		No	ClinGen Ensembl
rs867315226 CA280547833	47	R>W		No	ClinGen TOPMed
rs958781971 CA395670798	48	T>P		No	ClinGen TOPMed gnomAD
CA280547828 rs958781971	48	T>S		No	ClinGen TOPMed gnomAD
CA395670778 rs1596729029	50	W>*		No	ClinGen Ensembl
rs1167592525 CA395670768	51	T>S		No	ClinGen TOPMed
CA395670743 rs1411714617	53	A>T		No	ClinGen TOPMed
CA395670736 rs1471418830	53	A>V		No	ClinGen gnomAD
CA395670724 rs1410740412	54	A>V		No	ClinGen gnomAD
rs1567275332 CA395670689	57	K>I		No	ClinGen Ensembl
CA395670682 rs1186763283	58	A>T		No	ClinGen TOPMed gnomAD
rs1264800144 CA395670673	59	D>N		No	ClinGen gnomAD
rs1264800144 CA395670669	59	D>Y		No	ClinGen gnomAD
CA8013877 rs113572387	62	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA280547799 rs113572387	62	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395670629 rs1359505491	62	P>T		No	ClinGen TOPMed
CA395670621 rs1267740941	63	G>E		No	ClinGen gnomAD
CA395670588 rs1282435658	66	L>V		No	ClinGen gnomAD
rs1339160940 CA395670554	68	P>L		No	ClinGen gnomAD
rs1384119942 CA395670559	68	P>S		No	ClinGen gnomAD
rs1381888053 CA395670459	70	P>L		No	ClinGen gnomAD
CA395670455 rs751051814	71	L>M		No	ClinGen ExAC gnomAD
CA8013807 rs779869821	72	P>R		No	ClinGen ExAC gnomAD
rs1567273877 CA395670441	72	P>S		No	ClinGen Ensembl
rs1567273837 CA395670429	73	R>Q		No	ClinGen Ensembl
CA395670422 rs1165414267	74	P>A		No	ClinGen gnomAD
rs1326132250 CA395669031	75	R>G		No	ClinGen TOPMed
CA8013805 rs758077479	76	I>F		No	ClinGen ExAC gnomAD
rs1385220721 CA395668988	77	C>R		No	ClinGen gnomAD
CA395668982 rs1164785431	77	C>Y		No	ClinGen gnomAD
CA395668930 rs1319843649	78	M>I		No	ClinGen TOPMed
rs753375779 CA280546382	78	M>T		No	ClinGen Ensembl
rs898096322 CA280545878	79	W>C		No	ClinGen Ensembl
CA280545865 rs963317103	80	K>T		No	ClinGen TOPMed gnomAD
CA8013781 rs753602877	82	L>R		No	ClinGen ExAC gnomAD
CA395668654 rs1295467641	82	L>V		No	ClinGen gnomAD
CA395668634 rs1328749302	83	D>G		No	ClinGen TOPMed gnomAD
rs909555780 CA280545832	83	D>H		No	ClinGen Ensembl
CA395668608 rs1399126146	84	V>D		No	ClinGen gnomAD
rs150382749 CA395668620	84	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150382749 CA8013780	84	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374671822 CA8013779	85	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1429517133 CA395668530	87	M>I		No	ClinGen gnomAD
rs368771114 CA280545794	87	M>T		No	ClinGen Ensembl
rs370274490 CA8013778	88	H>R		No	ClinGen ESP ExAC gnomAD
CA395668472 rs1231762301	89	Q>R		No	ClinGen gnomAD
CA395668398 rs1276270653	92	K>R		No	ClinGen TOPMed gnomAD
rs774418752 CA8013775	93	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	95	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771388927 CA8013774	95	N>S		No	ClinGen ExAC TOPMed
rs959964853 CA280545748	96	A>G		No	ClinGen Ensembl
CA395668294 rs1567272286	97	E>D		No	ClinGen Ensembl
rs1351200569 CA395668324	97	E>K		No	ClinGen TOPMed
rs1323140481 CA395668262	98	M>V		No	ClinGen gnomAD
CA395668217 rs1263981951	99	R>T		No	ClinGen gnomAD
rs200933996 CA395668196	100	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8013773 rs200933996	100	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140316897 CA8013755	106	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1383365232 CA395667972	107	E>G		No	ClinGen gnomAD
CA395667958 rs1162864491	108	L>P		No	ClinGen gnomAD
CA395667951 rs1386886770	109	G>R		No	ClinGen TOPMed gnomAD
rs879433726 CA280545605	110	C>S		No	ClinGen Ensembl
CA395667908 rs1485040962	112	E>K		No	ClinGen gnomAD
rs1219711960 CA395667821	117	D>N		No	ClinGen TOPMed gnomAD
rs1219711960 CA395667815	117	D>Y		No	ClinGen TOPMed gnomAD
CA8013751 rs559195500	118	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs146729147 CA8013752	118	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1023949338 CA280545546	119	I>M		No	ClinGen TOPMed gnomAD
rs762470096 CA8013750	119	I>V		No	ClinGen ExAC gnomAD
CA395667765 rs1596714062	120	T>P		No	ClinGen Ensembl
rs948459603 CA280545541	121	L>V		No	ClinGen Ensembl
TCGA novel	122	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8013748 rs769218304	123	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8013749 rs769218304	123	L>I		No	ClinGen ExAC TOPMed gnomAD
CA395667717 rs769218304	123	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	124	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363170038 CA395667691	125	C>R		No	ClinGen gnomAD
rs773861206 CA8013745	125	C>S		No	ClinGen ExAC TOPMed gnomAD
CA280545503 rs894251712	126	H>Y		No	ClinGen TOPMed gnomAD
rs777592720 CA395667662	127	A>E		No	ClinGen ExAC TOPMed gnomAD
rs377047162 CA395667665	127	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs377047162 CA8013743	127	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs777592720 CA8013742	127	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	130	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748146078 CA8013739	132	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8013738 rs781108578 COSM3113123	132	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA280545442 rs573634467	133	Q>R		No	ClinGen 1000Genomes
CA8013736 rs766453263	138	L>P		No	ClinGen ExAC gnomAD
CA8013735 rs766453263	138	L>R		No	ClinGen ExAC gnomAD
CA8013734 rs758600890	139	E>G		No	ClinGen ExAC gnomAD
CA8013733 rs372278563	141	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs536695925 CA8013731	143	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs773772541 CA8013727	145	C>F		No	ClinGen ExAC gnomAD
CA8013725 rs762568050	146	A>G		No	ClinGen ExAC gnomAD
rs770450819 CA8013726	146	A>S		No	ClinGen ExAC
CA395667443 rs762568050	146	A>V		No	ClinGen ExAC gnomAD
rs772844299 CA8013724	147	L>P		No	ClinGen ExAC
rs769365649 CA8013723	148	L>F		No	ClinGen ExAC gnomAD
rs1596713353 CA395667418	149	Q>P		No	ClinGen Ensembl
CA8013721 rs780928772	150	D>G		No	ClinGen ExAC TOPMed gnomAD
CA8013719 rs746945674	152	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs768520508 CA8013720	152	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1467422719 CA395667376	153	K>E		No	ClinGen gnomAD
rs1467422719 CA395667375	153	K>Q		No	ClinGen gnomAD
COSM1734189 rs780058909 CA8013718	154	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1198874040 CA395667353	155	C>R		No	ClinGen TOPMed gnomAD
rs368738097 CA8013717	156	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA280545278 rs953442674	156	I>V		No	ClinGen Ensembl
rs1596707218 CA395666527	158	T>P		No	ClinGen Ensembl
CA395666501 rs1403175042	159	P>S		No	ClinGen gnomAD
rs1015492750 CA280544666	162	N>I		No	ClinGen Ensembl
rs753229558 CA8013666	163	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8013665 rs151283168	165	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775394419 CA8013663	166	C>G		No	ClinGen ExAC gnomAD
rs775394419 CA8013664	166	C>R		No	ClinGen ExAC gnomAD
CA8013662 rs367914019	166	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258006047 CA395666298	167	Y>C		No	ClinGen TOPMed
rs759605425 CA395666302	167	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs759605425 CA8013660	167	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs374340751 CA8013659	168	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8013658 rs374340751	168	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs749395777 CA8013657	168	R>H		No	ClinGen ExAC TOPMed gnomAD
CA395666267 rs1379083529	169	Y>H		No	ClinGen gnomAD
rs1233661325 CA395666241	170	F>L		No	ClinGen TOPMed
rs773114148 CA8013656	172	S>C		No	ClinGen ExAC gnomAD
TCGA novel	176	C>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781596696 CA8013651	178	G>*		No	ClinGen ExAC TOPMed gnomAD
CA395666062 rs1439243009	179	V>F		No	ClinGen gnomAD
CA8013650 rs755336129	180	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1489597128 CA395664799	181	R>G		No	ClinGen gnomAD
CA395664796 rs1239648362	181	R>Q		No	ClinGen TOPMed
CA395664801 rs1489597128	181	R>W		No	ClinGen gnomAD
rs148722707 CA8013608	182	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs775882763 CA8013609	182	P>S		No	ClinGen ExAC gnomAD
rs779291634 CA8013606	184	F>L		No	ClinGen ExAC gnomAD
CA8013607 rs139907701	184	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA280544216 rs985355254	185	S>T		No	ClinGen Ensembl
CA8013604 COSM1588418 rs376772095	187	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
CA8013602 rs754715082	190	K>E		No	ClinGen ExAC TOPMed gnomAD
CA8013600 rs140233714	193	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs757146657 CA8013596	197	L>M		No	ClinGen ExAC
rs1567268739 CA622169860	200	Y>*		No	ClinGen Ensembl
CA8013595 rs143239070	201	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1478852952 CA395664528	202	V>I		No	ClinGen gnomAD
rs139508776 CA8013594	204	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8013593 rs751151606	205	Y>*		No	ClinGen ExAC TOPMed
CA280544145 rs1002584684	207	R>C		No	ClinGen Ensembl
CA8013591 rs775682412	207	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775682412 CA395664445	207	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8013590 rs767712119	209	F>V		No	ClinGen ExAC gnomAD
CA8013589 rs759831279	211	L>F		No	ClinGen ExAC gnomAD
rs774725515 CA8013588	212	Y>C		No	ClinGen ExAC gnomAD
CA8013585 COSM1198211 rs766770966	214	Y>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
rs535279129 CA8013583	215	V>I	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA395664370 rs535279129	215	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395664356 rs1337826125	217	T>A		No	ClinGen TOPMed
CA395664352 rs1239845777	217	T>I		No	ClinGen TOPMed
rs1299933669 CA395664346	218	P>H		No	ClinGen gnomAD
rs374769997 CA8013559	221	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs367827173 CA8013560	221	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1329805254 CA395664282	227	T>I		No	ClinGen TOPMed
rs778632923 CA8013558	227	T>S		No	ClinGen ExAC gnomAD
rs1392223539 CA395664270	229	M>T		No	ClinGen TOPMed
rs141615439 CA8013556	229	M>V		No	ClinGen ESP TOPMed gnomAD
CA8013555 rs770706959	230	G>V		No	ClinGen ExAC gnomAD
CA8013553 rs145518957	233	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA395664237 rs1483951031	234	P>L		No	ClinGen gnomAD
CA8013552 rs755996498	235	K>Q		No	ClinGen ExAC gnomAD
CA395664219 rs1354295916	237	W>L		No	ClinGen gnomAD
CA395664181 rs1338984947	240	S>R		No	ClinGen gnomAD
rs752747001 CA8013550	240	S>T		No	ClinGen ExAC gnomAD
rs1312294393 CA395664176	241	E>K		No	ClinGen gnomAD
CA280543845 rs551789158	242	T>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs1300596673 CA395662766	244	K>Q		No	ClinGen gnomAD
rs777504706 CA8013534	245	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1390497903 CA395662727	246	E>A		No	ClinGen TOPMed gnomAD
rs769758772 CA8013533	246	E>D		No	ClinGen ExAC gnomAD
rs748092461 CA8013532	247	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1057347198 CA280543714	247	S>N		No	ClinGen TOPMed
rs1057347198 CA395662707	247	S>T		No	ClinGen TOPMed
CA8013531 rs141842194	250	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1169409592 COSM1709083 CA395662660	250	M>T	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA395662651 rs1477869921	251	E>K		No	ClinGen gnomAD
COSM1709081 rs368395391 CA280543713	252	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1197225997 CA395662610	253	Q>R		No	ClinGen gnomAD
rs755078275 CA8013530	254	A>E		No	ClinGen ExAC gnomAD
rs780448832 CA8013528	256	T>I		No	ClinGen ExAC TOPMed gnomAD
rs780448832 CA395662566	256	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8013527 rs565882864	257	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs765676123 CA8013524	258	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1218180904 CA395662541	258	Q>P		No	ClinGen gnomAD
rs61746942 CA8013523	260	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144755146 CA8013521	261	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA395662428 rs1227897439	264	T>R		No	ClinGen TOPMed
CA8013520 rs764439368	265	V>L		No	ClinGen ExAC TOPMed gnomAD
CA395662418 rs764439368	265	V>M		No	ClinGen ExAC TOPMed gnomAD
CA395662397 rs1596701128	266	A>D		No	ClinGen Ensembl
rs759098573 CA8013519	268	P>L		No	ClinGen ExAC gnomAD
rs759098573 CA395662356 COSM3402277	268	P>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA395662366 rs1356904067	268	P>T		No	ClinGen TOPMed
CA395662306 rs1567267790	272	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA395662278 rs1291921693	273	S>G		No	ClinGen TOPMed
CA395662052 rs1596692107	273	S>T		No	ClinGen Ensembl
CA8013493 rs764727003	274	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1596692054 CA395662009	275	I>T		No	ClinGen Ensembl
CA280542358 rs932095063	276	H>D		No	ClinGen TOPMed
rs761692751 CA8013492	276	H>L		No	ClinGen ExAC TOPMed gnomAD
rs761692751 CA395661990	276	H>P		No	ClinGen ExAC TOPMed gnomAD
CA395661964 rs1596691969	277	V>A		No	ClinGen Ensembl
CA395661945 rs1596691940	278	L>P		No	ClinGen Ensembl
CA8013488 rs373334034	279	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs201418865 CA8013487	279	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8013486 rs201418865	279	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8013485 rs201418865	279	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8013484 rs757370237	280	A>T		No	ClinGen ExAC gnomAD
CA395661920 rs1417833251	280	A>V		No	ClinGen gnomAD
CA395661812 rs1421300486	285	Q>H		No	ClinGen gnomAD
rs777968026 CA8013482	286	V>A		No	ClinGen ExAC TOPMed gnomAD
rs756688945 CA8013481	288	K>E		No	ClinGen ExAC TOPMed gnomAD
CA395661726 rs1238172077	289	E>D		No	ClinGen TOPMed gnomAD
rs1567265655 CA395661715	290	L>V		No	ClinGen Ensembl
rs753185535 CA8013479	291	E>K		No	ClinGen ExAC gnomAD
rs753185535 CA395661701	291	E>Q		No	ClinGen ExAC gnomAD
CA8013478 rs765937812	294	Q>E		No	ClinGen ExAC gnomAD
rs920413584 CA395661622	295	G>R		No	ClinGen gnomAD
CA280542245 rs920413584	295	G>W		No	ClinGen gnomAD
CA280542214 rs1015599008	296	L>V		No	ClinGen TOPMed
rs764975253 CA8013475	297	V>G		No	ClinGen ExAC gnomAD
CA280542203 rs973232049	297	V>M		No	ClinGen TOPMed
rs138413324 CA8013472	300	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8013473 rs182267845	300	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395661511 rs1422636570	301	L>P		No	ClinGen TOPMed gnomAD
rs1555468073 CA8013470	302	K>E		No	ClinGen Ensembl
CA395661502 rs1397568801	302	K>R		No	ClinGen gnomAD
CA280542139 rs200334105	304	S>G		No	ClinGen TOPMed
CA395661464 rs1596691362	304	S>N		No	ClinGen Ensembl
CA8013468 rs775575214	305	E>K		No	ClinGen ExAC TOPMed gnomAD
rs926575163 CA280542118	307	R>G		No	ClinGen TOPMed gnomAD
rs772079956 CA8013467	307	R>K		No	ClinGen ExAC gnomAD
rs982058785 CA280542109	307	R>S		No	ClinGen gnomAD
rs1405029166 CA395661381	309	S>G		No	ClinGen gnomAD
rs959149640 CA280542107	310	S>G		No	ClinGen TOPMed
rs1003387879 CA280542080	316	E>G		No	ClinGen TOPMed
rs759709742 CA8013465	316	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs572438853 CA8013464	317	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA280542056 rs776921895	317	R>W		No	ClinGen gnomAD
CA395661201 rs1245388275	318	P>S		No	ClinGen gnomAD
rs988618534 CA280542033	323	P>L		No	ClinGen TOPMed gnomAD
CA280542018 rs958132881	325	K>Q		No	ClinGen Ensembl
CA8013462 rs749449323	327	K>M		No	ClinGen ExAC gnomAD
CA8013461 rs778258937	327	K>N		No	ClinGen ExAC gnomAD
CA395661024 rs1316786591	328	S>R		No	ClinGen gnomAD
rs1042716708 CA280542003	330	T>A		No	ClinGen TOPMed
rs1596690924 CA395660976	331	K>Q		No	ClinGen Ensembl

No associated diseases with A1A4V9

3 regional properties for A1A4V9

Type	Name	Position	InterPro Accession
domain	CASTOR, ACT domain	72 - 137	IPR027795-1
domain	CASTOR, ACT domain	258 - 320	IPR027795-2
domain	CASTOR1, N-terminal	9 - 69	IPR040778

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium, flagellum Cytoplasmic vesicle, secretory vesicle, acrosome Cytoplasm	In elongated spermatids, enriched in the principal piece of flagella where it is peri-axonemal Disappears from sperm heads upon acrosome reaction
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
acrosomal vesicle	A structure 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. It lies just beneath the plasma membrane and is derived from the lysosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
sperm principal piece	The segment of the sperm flagellum where the mitochondrial sheath ends, and the outer dense fibers (ODFs) associated with outer axonemal doublets 3 and 8 are replaced by the 2 longitudinal columns of the fibrous sheath (FS) which run the length of the principal piece and are stabilized by circumferential ribs. The principal piece makes up ~2/3 of the length of the sperm flagellum and is defined by the presence of the FS and of only 7 (rather than 9) ODFs which taper and then terminate near the distal end of the principal piece.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8IVU9	CABCOCO1	Ciliary-associated calcium-binding coiled-coil protein 1	Homo sapiens (Human)	PR
Q6NZQ0	Cfap119	Cilia- and flagella-associated protein 119	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MLNRKTSHFL	GMRVQSELEH	LSELRREAGK	DRSSVHGSAA	RTRASVRTQW	TTAAAAKADE
70	80	90	100	110	120
DPGANLFPPP	LPRPRICMWK	YLDVHSMHQL	EKTTNAEMRE	VLAELLELGC	PEQSLRDAIT
130	140	150	160	170	180
LDLFCHALIF	CRQQGFSLEQ	TSAACALLQD	LHKACIATPL	GNVEECYRYF	TSVLFCHGVR
190	200	210	220	230	240
RPPFSIDLFK	EEQLLALEDY	VVNTYFRHFK	LYKYVFTPQV	RLDLSLTYMG	LQPPKLWPES
250	260	270	280	290	300
ETEKEESKEM	EEQAVTPQKE	ELETVAPPEP	EPSHIHVLRA	YIKTQVNKEL	EQLQGLVEER
310	320	330
LKASEERLSS	KLTALERPFQ	LPPGKGKSKT	K