AiPD: Autoinhibited Protein Database

Q9HBI1

Gene name	PARVB (CGI-56)
Protein name	Beta-parvin
Names	Affixin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29780
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-110 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-110 (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

4 structures for Q9HBI1

Entry ID	Method	Resolution	Chain	Position	Source
4EDL	X-ray	210 A	A/B/C/D/E/F	235-364	PDB
4EDM	X-ray	200 A	A/B	235-364	PDB
4EDN	X-ray	290 A	A/B/C/D/E/F/G/H/I/J	235-364	PDB
AF-Q9HBI1-F1	Predicted				AlphaFoldDB

346 variants for Q9HBI1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA411848730 rs986959504	4	A>P		No	ClinGen TOPMed gnomAD
CA324883254 rs986959504	4	A>T		No	ClinGen TOPMed gnomAD
rs1474537711 CA411848732	4	A>V		No	ClinGen TOPMed
rs1302261608 CA411848748	6	R>H		No	ClinGen gnomAD
CA411848762 rs1258679938	7	S>L		No	ClinGen TOPMed
CA324883256 rs867185128	8	P>T		No	ClinGen Ensembl
rs1212017646 CA411848781	9	T>I		No	ClinGen gnomAD
rs750625220 CA10278974	10	P>L		No	ClinGen ExAC TOPMed gnomAD
rs750625220 CA324883258	10	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA411848784 rs1411174318	10	P>T		No	ClinGen gnomAD
rs868261568 CA324883260	12	P>T		No	ClinGen Ensembl
CA411848809 rs1223689233	13	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA411848970 rs1272669631	14	R>S		No	ClinGen TOPMed
CA411848978 rs1313154127	15	M>I		No	ClinGen TOPMed
rs1231355420 CA411848972	15	M>L		No	ClinGen TOPMed
CA411849004 rs1390535476	17	K>R		No	ClinGen TOPMed
rs1314380836 CA411849014	18	D>Y		No	ClinGen gnomAD
CA10278976 rs763079877	20	S>*		No	ClinGen ExAC TOPMed gnomAD
CA411849056 rs1481228530	21	F>L		No	ClinGen gnomAD
rs1393062014 CA411849064	22	L>P		No	ClinGen TOPMed
rs911399384 CA411849071	23	G>D		No	ClinGen TOPMed gnomAD
rs766477674 CA10278977	23	G>R		No	ClinGen ExAC gnomAD
rs911399384 CA324883266	23	G>V		No	ClinGen TOPMed gnomAD
rs1162235750 CA411849098	26	G>D		No	ClinGen TOPMed
CA411849107 rs1603424155	27	G>C		No	ClinGen Ensembl
rs867048738 CA324883267	27	G>D		No	ClinGen TOPMed gnomAD
rs867506569 CA324883269	28	T>N		No	ClinGen Ensembl
rs1427520477 CA411849131	30	A>T		No	ClinGen gnomAD
CA411849140 rs1431286122	30	A>V		No	ClinGen TOPMed gnomAD
CA411849195 rs1175058628	35	A>V		No	ClinGen gnomAD
CA411849201 rs1431504349	36	R>H		No	ClinGen TOPMed gnomAD
rs1431504349 CA411849203	36	R>L		No	ClinGen TOPMed gnomAD
rs989388800 CA324883273	37	E>G		No	ClinGen gnomAD
rs1307719430 CA411850107	39	S>C		No	ClinGen TOPMed gnomAD
rs1412166393 CA411850118	39	S>N		No	ClinGen gnomAD
CA10279014 rs140178025	40	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA324897010 rs141364964	42	Q>R		No	ClinGen ESP
CA10279015 rs554834609	45	G>D		No	ClinGen ExAC TOPMed gnomAD
rs908133906 CA324897013	46	K>N		No	ClinGen Ensembl
rs767489881 CA10279016	47	N>K		No	ClinGen ExAC gnomAD
CA324897039 rs201439812	48	A>T		No	ClinGen Ensembl
rs1329956658 CA411850292	50	N>H		No	ClinGen gnomAD
rs761272711 CA10279018	50	N>S		No	ClinGen ExAC gnomAD
CA10279021 rs34476853	52	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_034369 RCV000958249 CA10279020 rs34476853	52	P>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10279024 rs754586676	53	M>I		No	ClinGen ExAC gnomAD
CA10279023 rs751162027	53	M>T		No	ClinGen ExAC gnomAD
CA411850390 rs1192634418	54	S>F		No	ClinGen TOPMed
rs376291981 CA10279027	55	P>L		No	ClinGen ESP ExAC gnomAD
rs201593385 CA10279026	55	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10279029 rs777649823	56	A>T	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
VAR_017242 rs1983609 CA10279030	58	V>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs774701152 CA10279032	59	D>H		No	ClinGen ExAC gnomAD
CA324897105 rs201115082	59	D>V		No	ClinGen 1000Genomes
rs1213647912 CA411850542	62	P>R		No	ClinGen TOPMed
rs373335547 CA324897113	65	T>N		No	ClinGen ESP TOPMed
CA10279034 rs772358231	66	Q>H		No	ClinGen ExAC
CA10279035 rs775732577	67	L>P		No	ClinGen ExAC gnomAD
rs187361838 COSM3785682 CA324897134 COSM3785683	68	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes
TCGA novel	69	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA324900884 rs35276038	70	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10279067 rs185023361	71	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370343316 CA10279068	73	R>C	Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs534947819 CA10279069	73	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs62227666 CA10279072	74	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10279071 rs62227666	74	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10279075 rs56194750	75	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773740168 CA10279077	76	I>T		No	ClinGen ExAC TOPMed gnomAD
rs557041905 CA10279076	76	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	77	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763364882 CA10279078	78	P>L		No	ClinGen ExAC TOPMed gnomAD
CA324900923 rs1054482014	78	P>T		No	ClinGen TOPMed
CA10279080 rs774631010	79	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1198825023 CA411851885	81	K>R		No	ClinGen gnomAD
CA10279083 rs753317019	84	P>H		No	ClinGen ExAC gnomAD
rs763749743 CA10279082	84	P>T		No	ClinGen ExAC gnomAD
rs11539650 CA10279084 COSM149313	85	K>E	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs765134073 CA10279085	85	K>R		No	ClinGen ExAC gnomAD
TCGA novel	87	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA324900964 rs751532244	88	E>*		No	ClinGen TOPMed gnomAD
rs750363308 CA10279086	88	E>D		No	ClinGen ExAC gnomAD
CA411851929 rs751532244	88	E>K		No	ClinGen TOPMed gnomAD
CA411851937 rs1601600089	89	L>R		No	ClinGen Ensembl
CA10279088 rs766284988	90	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1411121918 CA411851949	91	K>R		No	ClinGen gnomAD
CA411856437 rs1248609232	94	L>V		No	ClinGen gnomAD
rs1186140674 CA411856454	95	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1418082663 CA411856465	95	D>V		No	ClinGen gnomAD
CA411856483 rs1423885891	96	W>R		No	ClinGen gnomAD
rs776215311 CA10279117	98	N>I		No	ClinGen ExAC gnomAD
rs769276683 CA10279119	100	V>L		No	ClinGen ExAC TOPMed gnomAD
rs769276683 CA10279120	100	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1015363180 CA324908683	101	L>M		No	ClinGen TOPMed
rs762513099 CA10279121	101	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1330415354 CA411856604	103	E>G		No	ClinGen TOPMed gnomAD
rs766460610 CA10279122	105	R>S		No	ClinGen ExAC TOPMed gnomAD
CA10279123 rs200594408	110	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411856740 rs1268492708	112	E>G		No	ClinGen gnomAD
rs1569131326 CA411856736	112	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	116	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10279126 rs752375164	116	Y>C		No	ClinGen ExAC gnomAD
rs76348360 CA411856826	117	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10279127 rs760973940	117	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1348251883 CA411856843	118	G>D		No	ClinGen gnomAD
CA10279129 rs753954634	118	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1198046374 CA411856850	119	Q>*		No	ClinGen TOPMed
rs1466204583 CA411856858	120	V>L		No	ClinGen gnomAD
rs757301926 CA10279130	121	L>P		No	ClinGen ExAC TOPMed gnomAD
CA411856865 rs757301926	121	L>R		No	ClinGen ExAC TOPMed gnomAD
CA411853073 rs1437954190	126	E>G		No	ClinGen Ensembl
CA10279132 rs750927434	126	E>K		No	ClinGen ExAC gnomAD
TCGA novel	127	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411853085 COSM1130413 rs1369299575	128	L>V	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA10279189 rs774425510	129	A>S		No	ClinGen ExAC gnomAD
rs1162543806 CA411853093	129	A>V		No	ClinGen TOPMed gnomAD
rs149908085 CA10279190	130	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs149908085 CA411853097	130	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs975226810 CA324885992	131	C>Y		No	ClinGen TOPMed gnomAD
rs1381193873 CA411853118	133	L>Q		No	ClinGen gnomAD
CA411853132 rs1334195750	135	V>A		No	ClinGen gnomAD
CA10279191 rs768094365	136	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1601654001 CA411853153	138	V>G		No	ClinGen Ensembl
rs753148960 CA10279192	139	T>A		No	ClinGen ExAC gnomAD
COSM1682316 rs764997712 CA10279194	140	Q>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10279195 rs750039098	140	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA324886007 rs934202321	141	S>C		No	ClinGen Ensembl
CA411853176 rs1263056020	141	S>P		No	ClinGen gnomAD
COSM227954 rs183013426 CA10279197	142	E>K	NS [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs183013426 CA324886013	142	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10279198 rs746475838	143	I>M		No	ClinGen ExAC gnomAD
rs1332871457 CA411853203	143	I>T		No	ClinGen TOPMed
CA324886017 rs914046879	144	G>R		No	ClinGen Ensembl
TCGA novel	144	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA324886020 rs970846284	146	K>N		No	ClinGen TOPMed gnomAD
rs1414547803 CA411853235	146	K>T		No	ClinGen TOPMed
CA324886024 rs945611093	147	Q>*		No	ClinGen Ensembl
rs1569141459 CA411853250	147	Q>H		No	ClinGen Ensembl
rs1043966443 CA324886029	149	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA411853269 rs1477361516	149	L>V		No	ClinGen TOPMed
CA10279200 rs781077663	150	Q>*		No	ClinGen ExAC gnomAD
CA411853282 rs1424155624	150	Q>H		No	ClinGen TOPMed
CA10279201 rs747990557	150	Q>R		No	ClinGen ExAC gnomAD
CA10279202 rs201726985	151	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749478354 CA10279204	152	V>A		No	ClinGen ExAC gnomAD
CA411853302 rs749478354	152	V>G		No	ClinGen ExAC gnomAD
CA411853309 rs1601654214	153	L>P		No	ClinGen Ensembl
CA411853306 rs1601654204	153	L>V		No	ClinGen Ensembl
CA10279206 rs774322525	157	H>P		No	ClinGen ExAC TOPMed
rs774322525 CA324886054	157	H>R		No	ClinGen ExAC TOPMed
CA411853378 rs1311940218	158	D>E		No	ClinGen TOPMed gnomAD
CA10279207 rs759654567	158	D>V		No	ClinGen ExAC gnomAD
rs1444218235 CA411853384	159	L>V		No	ClinGen TOPMed
rs761188522 CA10279210	161	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs776127315 CA10279209	161	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM188518 CA10279211 rs764369675	163	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10279212 rs544981640	163	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10279213 rs544981640	163	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10279214 rs766017006	166	A>V		No	ClinGen ExAC TOPMed gnomAD
rs185849187 CA10279216	167	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1279920298 CA411853533	167	L>R		No	ClinGen gnomAD
CA10279219 rs550575928	168	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs550575928 CA10279218	168	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10279217 rs144931273	168	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA324886087 rs1020611888	169	W>*		No	ClinGen TOPMed
CA324886090 rs966460174	170	S>G		No	ClinGen TOPMed
CA10279221 rs754970305	171	V>M		No	ClinGen ExAC TOPMed gnomAD
CA324886097 rs886903624	173	S>P		No	ClinGen Ensembl
rs1248553632 CA411853837	175	H>R		No	ClinGen gnomAD
rs940392183 CA324886705	176	G>R		No	ClinGen TOPMed gnomAD
rs775019298 CA10279256	178	N>K		No	ClinGen ExAC gnomAD
rs1601656529 CA411853874	178	N>T		No	ClinGen Ensembl
CA411853893 rs1423426866	180	V>L		No	ClinGen TOPMed
rs760206811 CA10279257	181	A>V		No	ClinGen ExAC gnomAD
rs1420562407 CA411853920	182	I>T		No	ClinGen gnomAD
rs1164945550 CA411854029	184	H>P		No	ClinGen TOPMed
CA411854030 rs1164945550	184	H>R		No	ClinGen TOPMed
rs763992931 CA10279258	187	V>I		No	ClinGen ExAC gnomAD
CA411854056 rs142049850	189	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs556764536 CA10279263	191	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1004988149 CA324886728	191	M>T		No	ClinGen Ensembl
rs750193030 CA10279262	191	M>V		No	ClinGen ExAC gnomAD
rs575240566 CA10279264	192	H>N		No	ClinGen 1000Genomes ExAC gnomAD
CA324886736 rs928425038	192	H>Q		No	ClinGen TOPMed
CA10279265 rs747108331	192	H>R		No	ClinGen ExAC gnomAD
CA10279266 rs755073916	194	R>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	194	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10279267 rs537972520	195	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA411854101 rs1319168534	196	P>L		No	ClinGen Ensembl
CA10279268 rs141418835	198	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10279269 rs200997339	198	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200997339 CA10279270	198	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10279271 rs371546618	199	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA411854124 rs371546618	199	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs574450841 CA10279272	201	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs775191492 CA10279273	203	V>A		No	ClinGen ExAC gnomAD
CA411854193 rs1253607820	205	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA411854214 rs146849979	206	Q>H		No	ClinGen ESP TOPMed
TCGA novel	207	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344752380 CA411854244	209	V>L		No	ClinGen gnomAD
CA10279279 rs140533181	210	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs758247057 CA411854269	211	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10279281 rs758247057 COSM125139	211	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10279280 COSM292591 rs750285011	211	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA411854952 rs1202829727	213	R>P		No	ClinGen gnomAD
CA411854949 rs1202829727	213	R>Q		No	ClinGen gnomAD
rs752868078 CA10279304	213	R>W		No	ClinGen ExAC TOPMed gnomAD
rs201831464 CA10279305	214	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1601661991 CA411854980	215	G>A		No	ClinGen Ensembl
CA411854990 rs1373212932	216	L>R		No	ClinGen gnomAD
CA10279307 rs754343533	218	H>P		No	ClinGen ExAC gnomAD
rs757702747 CA10279308	219	S>P		No	ClinGen ExAC gnomAD
CA10279310 rs779357780	220	S>C		No	ClinGen ExAC TOPMed gnomAD
CA10279309 rs779357780	220	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1416317533 CA411855038	220	S>R		No	ClinGen gnomAD
CA10279311 rs768393457	221	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA10279312 rs780688321	223	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1001910464 CA324888209	225	E>D		No	ClinGen TOPMed gnomAD
CA411855124 rs1442931610	226	L>M		No	ClinGen gnomAD
CA411855127 rs1442931610	226	L>V		No	ClinGen gnomAD
rs1227491684 CA411855165	229	T>A		No	ClinGen gnomAD
rs772783573 CA10279315	230	T>I		No	ClinGen ExAC TOPMed gnomAD
CA324888216 rs957776198	230	T>P		No	ClinGen TOPMed
CA10279340 rs760908984	232	M>I		No	ClinGen ExAC gnomAD
rs775203649 CA10279339	232	M>T		No	ClinGen ExAC gnomAD
TCGA novel	232	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172782285 CA411855290	233	M>I		No	ClinGen gnomAD
CA324889935 rs746649653	233	M>K		No	ClinGen Ensembl
rs1258463175 CA411855298	234	M>I		No	ClinGen gnomAD
TCGA novel	235	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411855307 rs201782671	236	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201782671 CA10279343 COSM1582857	236	R>Q	Variant assessed as Somatic; 0.0 impact. meninges [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs151127522 CA10279342	236	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149571024	237	F>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA10279345 rs542565314	238	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1404022951 CA411856192	239	R>Q		No	ClinGen gnomAD
rs775756782 CA10279405	239	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10279406 rs761077198	240	D>V		No	ClinGen ExAC gnomAD
rs1345927076 CA411856214	241	A>T		No	ClinGen gnomAD
CA324895553 rs745598503	242	F>L		No	ClinGen ExAC TOPMed gnomAD
CA411856249 rs1340076945 CA411856250	243	D>E		No	ClinGen TOPMed gnomAD
rs750085183 CA411856244	243	D>H		No	ClinGen ExAC TOPMed gnomAD
rs750085183 CA10279408	243	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10279409 rs762526652	244	T>M		No	ClinGen ExAC TOPMed gnomAD
rs762526652 CA324895575	244	T>R		No	ClinGen ExAC TOPMed gnomAD
CA324895589 rs368073407	245	L>M		No	ClinGen ESP TOPMed gnomAD
CA411856265 rs16991550	246	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs569063587 CA10279413	247	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754939937 CA10279414	248	H>R		No	ClinGen ExAC gnomAD
rs1307588985 CA411856275	248	H>Y		No	ClinGen TOPMed gnomAD
rs752487156 CA10279416	250	P>L		No	ClinGen ExAC TOPMed gnomAD
CA324895596 rs771553226	250	P>S		No	ClinGen gnomAD
CA324895615 rs996822308	251	D>G		No	ClinGen gnomAD
TCGA novel	251	D>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178986521 CA411856306	253	L>F		No	ClinGen TOPMed
CA10279421 rs138980500	254	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs138980500 CA10279422	254	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1228857127 CA411856321	255	V>A		No	ClinGen TOPMed
CA10279424 rs372754911	255	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1360149294 CA411856338	258	K>E		No	ClinGen gnomAD
CA411856341 rs1435500217	258	K>R		No	ClinGen TOPMed gnomAD
CA324898246 rs981996024	259	S>Y		No	ClinGen TOPMed
CA10279460 rs751554250	261	I>V		No	ClinGen ExAC gnomAD
rs755551123 CA10279461	262	T>A		No	ClinGen ExAC gnomAD
rs1477783158 CA411856955	262	T>I		No	ClinGen gnomAD
CA10279462 rs113622568	264	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411856977 rs113622568	264	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA324898271 rs938697429	264	V>M		No	ClinGen TOPMed
CA10279463 rs748572954	266	K>N		No	ClinGen ExAC gnomAD
rs1463843909 CA411856997	267	H>Y		No	ClinGen gnomAD
CA10279466 rs745551622	269	N>S		No	ClinGen ExAC gnomAD
rs1320953663 CA411857039	270	K>R		No	ClinGen gnomAD
CA324898291 rs941713088	271	L>V		No	ClinGen Ensembl
rs1601688320 CA411857070	273	L>F		No	ClinGen Ensembl
CA324898295 rs148038902	273	L>M		No	ClinGen ESP
rs894464611 CA324898303	274	E>K		No	ClinGen TOPMed gnomAD
CA10279467 rs377537511	276	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs149608527 CA10279469	277	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA324898334 rs528326067	278	L>P		No	ClinGen Ensembl
CA10279470 rs768770414	279	E>D		No	ClinGen ExAC gnomAD
rs903355257 CA324898338	281	Q>H		No	ClinGen TOPMed
rs1336027171 CA411857149	281	Q>R		No	ClinGen gnomAD
CA10279490 rs776221951	283	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1159870494 CA411857490	284	D>H		No	ClinGen gnomAD
rs544224971 CA10279493	286	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1209251477 CA411857524	289	V>A		No	ClinGen TOPMed
rs766683924 CA10279496	289	V>I		No	ClinGen ExAC gnomAD
rs766683924 CA10279495	289	V>L		No	ClinGen ExAC gnomAD
rs759690961 CA411857545	293	G>R		No	ClinGen ExAC TOPMed gnomAD
rs759690961 CA10279497	293	G>S		No	ClinGen ExAC TOPMed gnomAD
rs767600905 CA411857551	294	L>F		No	ClinGen ExAC gnomAD
rs767600905 CA10279498	294	L>V		No	ClinGen ExAC gnomAD
CA411857564 rs767531817	296	E>G		No	ClinGen TOPMed gnomAD
rs767531817 CA324902343	296	E>V		No	ClinGen TOPMed gnomAD
rs1351598977 CA411857571	297	D>G		No	ClinGen gnomAD
rs772194669 CA324902358	301	P>S		No	ClinGen Ensembl
CA411857605 rs1353503687	302	L>P		No	ClinGen TOPMed
rs561227800 CA10279500	302	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA324902375 rs1050298812	304	H>P		No	ClinGen Ensembl
TCGA novel	305	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200342928 CA324902386 COSM188529	309	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA10279505 rs367757939	313	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs367757939 CA10279506	313	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA324902426 rs902926441	314	Q>R		No	ClinGen Ensembl
rs1220192902 CA411858395	316	V>D		No	ClinGen TOPMed gnomAD
rs1220192902 CA411858398	316	V>G		No	ClinGen TOPMed gnomAD
rs778608280 CA10279535	316	V>I		No	ClinGen ExAC gnomAD
CA411858406 rs1601708358	317	H>P		No	ClinGen Ensembl
rs1317160560 CA411858401	317	H>Y		No	ClinGen gnomAD
CA411858416 rs1213778059	318	N>D		No	ClinGen gnomAD
CA10279537 rs772334370	318	N>S		No	ClinGen ExAC TOPMed
CA411858430 rs1266771734	319	V>M		No	ClinGen gnomAD
rs775682211 CA10279538	320	S>C		No	ClinGen ExAC gnomAD
CA10279539 rs139507985	321	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749414411 CA10279541 COSM188530	322	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1196240058 CA411858470	323	F>L		No	ClinGen gnomAD
CA10279542 rs370012225	326	M>L		No	ClinGen ESP ExAC gnomAD
rs765744153 CA10279543	326	M>T		No	ClinGen ExAC gnomAD
rs996014625 CA324911507	327	L>P		No	ClinGen Ensembl
CA411858540 rs146183248	328	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750867502 CA10279544	328	D>N		No	ClinGen ExAC gnomAD
CA411858545 rs1293188108	329	G>E		No	ClinGen gnomAD
rs767347677 CA10279546	329	G>R		No	ClinGen ExAC TOPMed gnomAD
COSM1034947 CA411858559 rs1346803590	330	G>D	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA10279547 rs201082098	331	L>F		No	ClinGen ExAC TOPMed gnomAD
CA10279549 rs200131614	336	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs755736911 CA10279548	336	A>S		No	ClinGen ExAC gnomAD
CA411858626 rs755736911	336	A>T		No	ClinGen ExAC gnomAD
CA411858636 rs1345336192	337	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10279550 rs753352609	337	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA411858645 rs1228881271	338	P>A		No	ClinGen gnomAD
rs139050289 CA10279551	339	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs763733104 CA10279589	341	V>M		No	ClinGen ExAC TOPMed gnomAD
rs776483683 CA411858966	345	D>E		No	ClinGen ExAC gnomAD
CA10279591 rs761574337	347	K>R		No	ClinGen ExAC TOPMed gnomAD
rs267606268 CA324913763	348	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs765896985 CA10279595	351	R>K		No	ClinGen ExAC gnomAD
rs765896985 CA10279596	351	R>T		No	ClinGen ExAC gnomAD
rs866263935 CA324913769	352	V>A		No	ClinGen Ensembl
CA411859009 rs1259232295	353	L>F		No	ClinGen gnomAD
rs1459172588 CA411859027	355	N>K		No	ClinGen gnomAD
CA411859054 rs1176806941	359	K>N		No	ClinGen gnomAD
CA10279597 rs754662283	360	Y>*		No	ClinGen ExAC gnomAD
CA411859064 rs1478442495	361	K>E		No	ClinGen gnomAD
rs1422855429 CA411859072	362	N>D		No	ClinGen gnomAD
rs372330807 CA10279600	363	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs778390496 CA10279601	365	E>W		No	ClinGen ExAC gnomAD

No associated diseases with Q9HBI1

2 regional properties for Q9HBI1

Type	Name	Position	InterPro Accession
domain	Calponin homology domain	87 - 194	IPR001715-1
domain	Calponin homology domain	254 - 361	IPR001715-2

Functions

		Description
EC Number
Subcellular Localization	Cell junction, focal adhesion Cell membrane; Peripheral membrane protein; Cytoplasmic side Cytoplasm, cytoskeleton Cell projection, lamellipodium Cytoplasm, myofibril, sarcomere Cytoplasm, myofibril, sarcomere, Z line	Constituent of focal adhesions Detected at the tips of the leading edge of cells Colocalizes with F-actin at the tips of lamellipodia
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
Z disc	Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

1 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.

6 GO annotations of biological process

Name	Definition
actin cytoskeleton reorganization	A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins.
cell projection assembly	Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon.
establishment or maintenance of cell polarity	Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns.
establishment or maintenance of cell polarity regulating cell shape	Any cellular process that results in the specification, formation or maintenance of a polarized intracellular organization or cell growth patterns that regulate the shape of a cell.
lamellipodium assembly	Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.
substrate adhesion-dependent cell spreading	The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9ERD8	Parvg	Gamma-parvin	Mus musculus (Mouse)	PR
Q9ES46	Parvb	Beta-parvin	Mus musculus (Mouse)	PR
O16785	pat-6	Paralyzed arrest at two-fold protein 6	Caenorhabditis elegans	PR

10	20	30	40	50	60
MSSAPRSPTP	RPRRMKKDES	FLGKLGGTLA	RKRRAREVSD	LQEEGKNAIN	SPMSPALVDV
70	80	90	100	110	120
HPEDTQLEEN	EERTMIDPTS	KEDPKFKELV	KVLLDWINDV	LVEERIIVKQ	LEEDLYDGQV
130	140	150	160	170	180
LQKLLEKLAG	CKLNVAEVTQ	SEIGQKQKLQ	TVLEAVHDLL	RPRGWALRWS	VDSIHGKNLV
190	200	210	220	230	240
AILHLLVSLA	MHFRAPIRLP	EHVTVQVVVV	RKREGLLHSS	HISEELTTTT	EMMMGRFERD
250	260	270	280	290	300
AFDTLFDHAP	DKLSVVKKSL	ITFVNKHLNK	LNLEVTELET	QFADGVYLVL	LMGLLEDYFV
310	320	330	340	350	360
PLHHFYLTPE	SFDQKVHNVS	FAFELMLDGG	LKKPKARPED	VVNLDLKSTL	RVLYNLFTKY

KNVE