AiPD: Autoinhibited Protein Database

Q96B97

Gene name	SH3KBP1 (CIN85)
Protein name	SH3 domain-containing kinase-binding protein 1
Names	CD2-binding protein 3, CD2BP3, Cbl-interacting protein of 85 kDa, Human Src family kinase-binding protein 1, HSB-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:30011
EC number
Protein Class	SH3 DOMAIN-CONTAINING (PTHR14167)

Descriptions

The human CIN85 (Cbl-interacting protein of 85 kDa) is a multifunction adapter or scaffolding protein consisting of three SH3 domains in the N-terminal half of the protein connected by unstructured linkers followed by a proline rich region, a serine rich region, and a coiled coil domain at the C-terminus and plays important roles in both receptor tyrosine kinase downregulation and phosphatidylinositol 3 kinase inhibition. Prevention of the intramolecular interaction of SH3 domain C with the proline-rich motif P1 results in the complex formation of CIN85 with specific targets such as Cbl or p85 proteins via the SH3 domain C.
There are several examples in the literature of SH3 domains adjacent to proline rich motifs, e.g., in tec and in the p85 subunit of PI3-kinase where an interaction is observed between the SH3 domain and the proline rich motifs, either in an intramolecular fashion as in tec kinase or in an intermolecular fashion as in the case of the p85 subunit of PI-3 kinase.

Autoinhibitory domains (AIDs)

Target domain	271-326 (SH3 domain-containing kinase-binding protein 1, third SH3 domain)
Relief mechanism
Assay	Structural analysis

AID

337-346 (Proline rich motif P1)

Target domain

271-326 (SH3 domain-containing kinase-binding protein 1, third SH3 domain)

Relief mechanism

Assay

Structural analysis

Accessory elements

No accessory elements

References

Philippe D et al. (2011) "Making ends meet: the importance of the N- and C-termini for the structure, stability, and function of the third SH3 domain of CIN85", Biochemistry, 50, 3649-59

Autoinhibited structure

Activated structure

8 structures for Q96B97

Entry ID	Method	Resolution	Chain	Position	Source
2BZ8	X-ray	200 A	A/B	1-58	PDB
2K6D	NMR	-	A	267-328	PDB
2K9G	NMR	-	A	262-333	PDB
2N64	NMR	-	A/B/C	594-665	PDB
2O2O	NMR	-	A	92-168	PDB
2YDL	X-ray	205 A	A	270-328	PDB
5ABS	X-ray	174 A	A	599-662	PDB
AF-Q96B97-F1	Predicted				AlphaFoldDB

285 variants for Q96B97

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA10364990 rs191836984	7	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs765215179 CA10364989	10	Y>C		No	ClinGen ExAC gnomAD
rs1271304144 CA412500269	11	Q>H		No	ClinGen gnomAD
CA10364985 rs746696313	15	D>G		No	ClinGen ExAC gnomAD
rs766932945 CA10364987	15	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs766932945 CA10364986	15	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA412500217 rs1337981503	19	T>K		No	ClinGen gnomAD
CA412500216 rs1337981503	19	T>M		No	ClinGen gnomAD
CA10364983 rs143666089	21	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1235625002 CA412500205	21	S>N		No	ClinGen TOPMed
CA10364981 rs779417470	22	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1249659520 CA412500198	22	V>M		No	ClinGen gnomAD
CA327436141 rs889010451	29	I>V		No	ClinGen gnomAD
rs1330617716 CA412500131	32	E>Q		No	ClinGen gnomAD
rs1194410423 CA412500072	40	Q>K		No	ClinGen TOPMed
rs752964138 CA10364976	43	G>D		No	ClinGen ExAC gnomAD
CA10364978 rs370417216	43	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10364977 rs370417216	43	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10364975 rs767573730	45	R>G		No	ClinGen ExAC gnomAD
rs750282611 CA10364973	46	G>S		No	ClinGen ExAC
rs1465436373 CA412500026	47	L>*		No	ClinGen Ensembl
CA10364971 rs761786273	47	L>F		No	ClinGen ExAC
rs1603273608 CA412499975	54	R>T		No	ClinGen Ensembl
rs1243308574 CA412496769	57	K>N		No	ClinGen gnomAD
rs1487738332 CA412496750	60	M>V		No	ClinGen gnomAD
rs774102889 CA10364946	66	T>S		No	ClinGen ExAC gnomAD
rs1262481451 CA412496695	67	N>K		No	ClinGen TOPMed
CA10364944 rs763356373	73	P>L		No	ClinGen ExAC gnomAD
rs770274299 CA10364943	74	L>P		No	ClinGen ExAC gnomAD
rs770274299 CA10364942	74	L>R		No	ClinGen ExAC gnomAD
CA10364941 rs200707424	75	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10364938 rs150089181 COSM1467166	76	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA10364939 rs150089181	76	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA412496538 rs1340118076	78	P>S		No	ClinGen gnomAD
CA412496524 rs1569453698	79	S>C		No	ClinGen Ensembl
CA412496514 rs1479590252 COSM182549	79	S>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs758605591 CA10364936	82	S>P		No	ClinGen ExAC gnomAD
CA10364935 rs753698582	84	L>P		No	ClinGen ExAC gnomAD
CA327429406 rs955865202	87	E>G		No	ClinGen Ensembl
rs1364034831 CA412496372	88	T>A		No	ClinGen gnomAD
CA10364934 rs777591849	88	T>M		No	ClinGen ExAC gnomAD
rs1184250688 CA412496286	93	N>S		No	ClinGen TOPMed gnomAD
CA412500692 rs1454981152	98	R>Q		No	ClinGen gnomAD
rs774563910 CA10364897	99	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1358291133 CA412500688	99	R>W		No	ClinGen gnomAD
CA10364896 rs769487115	101	R>C		No	ClinGen ExAC TOPMed gnomAD
CA412500677 rs769487115	101	R>G		No	ClinGen ExAC TOPMed gnomAD
CA412500676 rs1432635413	101	R>H		No	ClinGen gnomAD
rs1386870517 CA412500669	102	R>Q		No	ClinGen gnomAD
CA412500656 rs1185238085	104	Q>R		No	ClinGen gnomAD
rs773851292 CA10364895	106	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA412500582 rs1268380349	115	D>N		No	ClinGen TOPMed
CA412500530 rs1418690989	122	G>D		No	ClinGen TOPMed
rs1365594800 CA412500491	128	V>I		No	ClinGen TOPMed
CA10364872 rs368604551	131	V>L		No	ClinGen ESP ExAC gnomAD
rs141628714 CA10364870	139	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA327421806 rs1035282437	141	N>S		No	ClinGen TOPMed
rs1418730088 CA412499189	144	T>I		No	ClinGen TOPMed
CA10364867 rs756401306	150	N>S		No	ClinGen ExAC gnomAD
CA10364865 rs759952134	152	I>L		No	ClinGen ExAC TOPMed gnomAD
CA10364864 rs759952134	152	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1204905090 CA412499012	154	E>*		No	ClinGen gnomAD
rs1463075995 CA412499006	154	E>V		No	ClinGen gnomAD
rs745782204 CA10364863	159	S>L		No	ClinGen ExAC gnomAD
rs1399273875 CA412498874	161	E>A		No	ClinGen TOPMed
CA412498638 rs1197198616	174	S>G		No	ClinGen gnomAD
rs756352996 CA10364800	178	T>A		No	ClinGen ExAC gnomAD
rs940248013 CA327420976	184	D>G		No	ClinGen TOPMed
CA10364798 rs369670367	189	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10364797 rs187106457	197	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs764733680 CA10364795	198	G>R		No	ClinGen ExAC gnomAD
CA412497841 rs1304076404	200	V>L		No	ClinGen TOPMed
rs1260051952 CA412497770	205	I>V		No	ClinGen TOPMed gnomAD
CA10364791 rs760343756	221	D>E		No	ClinGen ExAC gnomAD
CA10364792 rs768262772	221	D>N		No	ClinGen ExAC gnomAD
CA412497637 rs1262016253	222	K>Q		No	ClinGen TOPMed
rs200888929 CA10364789	229	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1448134683 CA412497582	230	S>A		No	ClinGen gnomAD
rs1283584841 CA412497574	231	I>T		No	ClinGen TOPMed gnomAD
rs1569417218 CA412497577	231	I>V		No	ClinGen Ensembl
CA412497571 rs1403134158	232	E>Q		No	ClinGen gnomAD
rs777017532 CA10364788	233	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779503435 CA10364787	236	D>G		No	ClinGen ExAC gnomAD
CA10364786 rs145149747	239	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412497486 rs1424147563	241	E>D		No	ClinGen gnomAD
CA412497458 rs1233524895	247	K>Q		No	ClinGen gnomAD
rs1248300498 CA412497436	249	P>L		No	ClinGen TOPMed
CA412497432 rs1488750108	250	A>T		No	ClinGen TOPMed
CA412497421 rs1332563663	252	T>A		No	ClinGen gnomAD
CA412497414 rs1176513144	253	A>T		No	ClinGen TOPMed
CA412497411 rs1298951121	253	A>V		No	ClinGen gnomAD
rs1386121103 CA412497397	256	D>H		No	ClinGen TOPMed gnomAD
CA412497398 rs1386121103	256	D>N		No	ClinGen TOPMed gnomAD
rs1323342014 CA412497388	257	S>A		No	ClinGen gnomAD
CA10364725 rs767110464	260	T>I		No	ClinGen ExAC
CA412497337 rs1602794829	264	S>N		No	ClinGen Ensembl
rs754698323 CA10364724	265	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1602794694 CA412497314	267	K>N		No	ClinGen Ensembl
CA10364716 rs11552354	268	S>N		No	ClinGen ExAC gnomAD
CA10364714 rs747264448	271	Y>C		No	ClinGen ExAC gnomAD
CA412497000 rs1414849151 COSM1737809 COSM1737810	274	V>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1346742835 CA412496989	275	I>M		No	ClinGen gnomAD
rs112116302 CA327415482	276	F>Y		No	ClinGen Ensembl
CA412496967 rs1253992891	279	E>K		No	ClinGen gnomAD
rs369225656 CA10364713	288	I>V		No	ClinGen ESP ExAC gnomAD
rs781543115 CA10364711	295	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773077801 CA10364692	302	I>V		No	ClinGen ExAC gnomAD
rs187770401 CA10364688	304	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412495500 rs1418387591	308	E>Q		No	ClinGen TOPMed gnomAD
CA10364686 rs201337827	313	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488429557 CA412495443	317	V>M		No	ClinGen gnomAD
rs1452915357 CA412495422	320	D>N		No	ClinGen TOPMed
CA412495399 rs1426463271	323	V>M		No	ClinGen TOPMed
CA412495377 rs1400699919	326	L>V		No	ClinGen TOPMed
rs141396234 CA10364682	328	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA412495358 rs1229976791	329	D>N		No	ClinGen TOPMed gnomAD
CA412500446 rs1473872344	338	K>E		No	ClinGen TOPMed
rs1213041798 CA412500442	338	K>R		No	ClinGen gnomAD
rs1020488020 CA327412619	341	P>L		No	ClinGen gnomAD
CA412500406 rs1439180647	344	S>P		No	ClinGen gnomAD
rs41311799 CA412500401	345	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs41311799 CA10364661	345	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10364660 rs370075003	346	P>S		No	ClinGen ExAC gnomAD
rs1350738270 CA412500388	347	V>A		No	ClinGen TOPMed
CA10364659 rs376122603	347	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10364642 rs756363927	354	T>I		No	ClinGen ExAC TOPMed gnomAD
rs781609512 CA10364640	359	H>R		No	ClinGen ExAC gnomAD
CA412499884 rs1424034383	364	I>V		No	ClinGen TOPMed gnomAD
CA10364638 rs751733126	368	R>I		No	ClinGen ExAC gnomAD
rs952388982 CA327412394	372	L>F		No	ClinGen Ensembl
rs1280111463 CA412499802	376	T>A		No	ClinGen gnomAD
rs1186880252 CA412499798	376	T>I		No	ClinGen gnomAD
rs758716608 CA10364636	378	E>D		No	ClinGen ExAC gnomAD
rs1310665369 VAR_015667 CA412499738	382	P>L		No	ClinGen UniProt dbSNP gnomAD
rs1602577758 CA412499730	383	E>D		No	ClinGen Ensembl
rs1183782307 CA412499653	394	S>F		No	ClinGen gnomAD
CA10364626 rs149782443	395	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10364625 rs149782443	395	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1489555630 CA412499624	399	P>L		No	ClinGen gnomAD
CA412499608 rs1419567465	402	K>E		No	ClinGen TOPMed
CA412499606 rs1296872570	402	K>T		No	ClinGen TOPMed
rs1314286712 CA412499593	404	R>Q		No	ClinGen gnomAD
rs774272802 CA412499594	404	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA327412144 rs936840141	405	P>T		No	ClinGen TOPMed
CA412499578 rs1365693276	407	K>E		No	ClinGen TOPMed
CA10364617 rs201278502	413	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1602577311 CA412499519	416	A>T		No	ClinGen Ensembl
CA327412143 rs960905963	418	P>T		No	ClinGen Ensembl
CA10364615 rs752483118	419	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752483118 CA412499501	419	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs757468529 CA10364616	419	P>S		No	ClinGen ExAC gnomAD
rs483352756 RCV000087241 CA229185	420	R>G		No	ClinGen ClinVar Ensembl dbSNP
CA412499491 rs1569315450	421	R>K		No	ClinGen Ensembl
rs767293120 CA10364614	422	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1194663168 CA412499477	423	E>G		No	ClinGen gnomAD
rs765884745 CA10364611	425	P>L		No	ClinGen ExAC TOPMed gnomAD
rs765884745 CA412499463	425	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA10364608 rs769375018	428	P>L		No	ClinGen ExAC TOPMed gnomAD
rs374793970 CA327412141	431	H>N		No	ClinGen gnomAD
rs1486472082 CA412498297	437	P>R		No	ClinGen gnomAD
CA10364572 rs750338693	438	K>E		No	ClinGen ExAC gnomAD
CA412498279 rs1209966062	439	I>F		No	ClinGen gnomAD
rs1488573871 CA412498276	439	I>T		No	ClinGen gnomAD
rs764658016 CA10364571	441	L>W		No	ClinGen ExAC gnomAD
CA327410500 rs200272242	443	G>S		No	ClinGen TOPMed gnomAD
rs199599962 CA10364569	445	S>L		No	ClinGen ExAC gnomAD
CA327410498 rs867132146	448	G>D		No	ClinGen Ensembl
rs764969436 CA10364568	449	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412498177 rs764969436	449	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412498162 rs1414480876	451	D>E		No	ClinGen gnomAD
CA10364567 rs760379007	454	L>F		No	ClinGen ExAC gnomAD
CA10364566 rs776018734	455	S>L		No	ClinGen ExAC gnomAD
CA412498125 rs1167726519	457	R>C		No	ClinGen TOPMed gnomAD
rs149913721 CA10364565	457	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412498127 rs1167726519	457	R>S		No	ClinGen TOPMed gnomAD
rs370271414 CA10364564	458	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1163382919 CA412498110	459	N>S		No	ClinGen gnomAD
CA10364563 rs368494966	460	D>E		No	ClinGen ESP ExAC gnomAD
rs771325046 CA10364562	461	I>T		No	ClinGen ExAC gnomAD
CA412498099 rs1415297708	461	I>V		No	ClinGen TOPMed gnomAD
CA412497290 rs267606416	463	L>I		No	ClinGen TOPMed
rs1256400778 CA412497260	467	D>H		No	ClinGen TOPMed
rs763646545 CA10364550	469	V>M		No	ClinGen ExAC TOPMed gnomAD
CA412497223 rs1569273481	473	T>A		No	ClinGen Ensembl
CA10364547 rs768002569	479	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10364546 rs760002391	487	T>I		No	ClinGen ExAC gnomAD
COSM457233 rs1377193905 CA412497109	490	R>W	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA412497094 rs1484119877	492	P>L		No	ClinGen gnomAD
CA412497081 rs1249973009	494	Q>H		No	ClinGen TOPMed gnomAD
rs760477895 CA10364542	497	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs769826150 CA10364541	497	T>I		No	ClinGen ExAC gnomAD
CA412497067 rs760477895	497	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA10364526 rs752002070	500	S>F		No	ClinGen ExAC gnomAD
rs1392571016 CA412496592	506	I>T		No	ClinGen gnomAD
CA10364524 rs763547701	506	I>V		No	ClinGen ExAC gnomAD
rs750863849 CA10364523	508	D>N		No	ClinGen ExAC
rs768965653 CA10364519	514	E>D		No	ClinGen ExAC gnomAD
CA327408750 rs919500572	519	H>Y		No	ClinGen TOPMed
rs901718323 CA327408748	523	A>G		No	ClinGen TOPMed gnomAD
CA327408749 rs901718323	523	A>V		No	ClinGen TOPMed gnomAD
CA412496395 rs1432772544	524	H>R		No	ClinGen gnomAD
CA412496380 rs1569269422	525	R>S		No	ClinGen Ensembl
rs1394474163 CA412496373	526	G>V		No	ClinGen gnomAD
CA10364516 rs770562366	527	V>A		No	ClinGen ExAC gnomAD
CA10364514 rs376095143	529	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376095143 COSM1118978 COSM1599203 CA10364513	529	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA10364512 rs747700708	529	A>V		No	ClinGen ExAC gnomAD
CA412496321 rs1258625139	531	K>T		No	ClinGen gnomAD
rs754680401 CA10364510	533	T>P		No	ClinGen ExAC gnomAD
rs1484899906 CA412496246	538	T>S		No	ClinGen gnomAD
rs1371110594 CA412496237	539	I>T		No	ClinGen TOPMed
rs374218492 CA10364508	539	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs61761898 CA10364507	541	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1359848466 CA412496138	545	N>K		No	ClinGen gnomAD
CA10364483 rs767986829	545	N>S		No	ClinGen ExAC TOPMed gnomAD
rs746688290 CA10364482	547	A>S		No	ClinGen ExAC gnomAD
rs1395346552 CA412496116	549	L>P		No	ClinGen gnomAD
CA412496104 rs1368233575	551	P>R		No	ClinGen TOPMed gnomAD
rs1033293181 CA327408368	551	P>S		No	ClinGen gnomAD
CA10364479 rs149464659	553	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1188499745 CA412496082	555	T>A		No	ClinGen gnomAD
CA412496052 rs1602401049	559	G>A		No	ClinGen Ensembl
CA10364475 rs113170456	561	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10364474 rs113170456 COSM1118975	561	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA10364473 rs752813115	562	G>E		No	ClinGen ExAC gnomAD
rs773162471 CA10364470	563	P>L		No	ClinGen ExAC gnomAD
rs759809081 CA10364471	563	P>S		No	ClinGen ExAC TOPMed gnomAD
CA10364469 rs765082210	564	A>D		No	ClinGen ExAC gnomAD
rs1298938183 CA412496031	564	A>T		No	ClinGen TOPMed
CA412496024 rs1344996824	565	P>S		No	ClinGen TOPMed
CA10364468 rs61744606	567	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10364467 COSM1118974 rs776375600	569	A>V	endometrium breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1168722102 CA412495998	570	A>T		No	ClinGen gnomAD
rs17851336 CA10364464	570	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10364462 rs747279963	571	P>L		No	ClinGen 1000Genomes ExAC
CA10364455 rs767654497	574	L>M		No	ClinGen ExAC TOPMed gnomAD
CA10364456 rs767654497	574	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1181587402 CA412495961	577	S>P		No	ClinGen TOPMed
rs758053411 CA327408365	578	L>W		No	ClinGen 1000Genomes
CA412495934 rs1191266661	581	A>G		No	ClinGen gnomAD
rs755280140 COSM612330 CA10364454 COSM1651065	582	G>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1197208781 CA412495910	584	R>T		No	ClinGen gnomAD
rs201884637 CA10364452	588	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412495842 rs1159821771	591	F>L		No	ClinGen TOPMed
rs760642189 CA10364448	592	G>D		No	ClinGen ExAC TOPMed gnomAD
CA10364449 rs138453824	592	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10364447 rs774887591	593	T>M		No	ClinGen ExAC gnomAD
CA327408364 rs1008163226	593	T>S		No	ClinGen TOPMed
rs759196528 CA10364445	599	M>T		No	ClinGen ExAC TOPMed gnomAD
CA412495778 rs1478442520	600	E>G		No	ClinGen gnomAD
CA10364444 rs369126109	602	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs749651652 CA10364442	604	S>N		No	ClinGen ExAC gnomAD
rs879188429 CA327408363	606	Q>E		No	ClinGen Ensembl
rs770225201 CA10364440	607	A>S		No	ClinGen ExAC TOPMed gnomAD
CA10364439 rs200596121	607	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1363911930 CA412495727	608	A>V		No	ClinGen gnomAD
rs201469151 CA10364436	609	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs61740276 CA412495715	610	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1211416124 CA412495706	611	E>D		No	ClinGen TOPMed gnomAD
CA327408361 rs757411815	613	R>T		No	ClinGen Ensembl
CA412495693 rs1443324251	614	T>A		No	ClinGen TOPMed
rs1278030645 CA412495680	616	V>I		No	ClinGen TOPMed gnomAD
CA10364433 rs753630261	617	R>C		No	ClinGen ExAC TOPMed gnomAD
rs143279224 CA10364432	617	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10364431 rs373849479	618	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs752570207 CA10364430	621	S>R		No	ClinGen ExAC gnomAD
rs759110258 CA10364428	624	E>K		No	ClinGen ExAC TOPMed gnomAD
rs759110258 CA10364429	624	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA412495620 rs1311553755	625	T>S		No	ClinGen gnomAD
CA10364427 rs773816472	625	T>S		No	ClinGen ExAC gnomAD
rs199561036 CA10364426	626	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1313284698 CA412495603	628	D>N		No	ClinGen TOPMed
rs777105719 CA10364401	643	E>D		No	ClinGen ExAC gnomAD
rs1013200370 CA327407983	646	K>N		No	ClinGen Ensembl
rs770229859 CA327407981	648	R>Q		No	ClinGen TOPMed gnomAD
rs773402668 CA327407982	648	R>W		No	ClinGen Ensembl
rs1232231428 CA412495172	649	L>F		No	ClinGen TOPMed gnomAD
rs142403021 CA10364399	650	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748353385 CA327407980	650	R>W		No	ClinGen Ensembl
rs11248 CA10364386	653	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1391119237 CA412495122	655	V>M		No	ClinGen gnomAD
CA412495108 COSM182483 rs1250630747	657	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA412495054 rs1191460724	664	S>*		No	ClinGen TOPMed
rs1190925426 CA412495051	665	K>E		No	ClinGen gnomAD
rs1364891509 CA412495043	666	K>R		No	ClinGen TOPMed gnomAD

1 associated diseases with Q96B97

[MIM: 300310]: Immunodeficiency 61 (IMD61)

An X-linked recessive primary immunologic disorder characterized by recurrent infections due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production. Disease severity is variable and onset is in early childhood. {ECO:0000269|PubMed:29636373}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

An X-linked recessive primary immunologic disorder characterized by recurrent infections due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production. Disease severity is variable and onset is in early childhood. {ECO:0000269|PubMed:29636373}. Note=The disease may be caused by variants affecting the gene represented in this entry.

2 regional properties for Q96B97

Type	Name	Position	InterPro Accession
domain	Sec7 domain	55 - 244	IPR000904
domain	Pleckstrin homology domain	260 - 379	IPR001849

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton Cytoplasmic vesicle membrane; Peripheral membrane protein Synapse, synaptosome Cell junction, focal adhesion	Localized in endocytic vesicles containing clustered receptors Colocalizes with ASAP1 in vesicular structures Colocalized with actin microfilaments and focal adhesions (By similarity) Colocalized with MAGI2 in synaptosomes Translocation to EGFR containing vesicles upon EGF stimulation is inhibited in the presence of SH3KBP1 (By similarity) Colocalizes with ZFP36 in the cytoplasm (PubMed:20221403)
PANTHER Family	PTHR14167	SH3 DOMAIN-CONTAINING
PANTHER Subfamily	PTHR14167:SF92	CIN85 AND CD2AP RELATED, ISOFORM J
PANTHER Protein Class	scaffold/adaptor protein
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endocytic vesicle	A membrane-bounded intracellular vesicle formed by invagination of the plasma membrane around an extracellular substance. Endocytic vesicles fuse with early endosomes to deliver the cargo for further sorting.
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).
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

2 GO annotations of molecular function

Name	Definition
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

8 GO annotations of biological process

Name	Definition
actin filament organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cell-cell signaling	Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
positive regulation of B cell activation	Any process that activates or increases the frequency, rate or extent of B cell activation.
regulation of cell shape	Any process that modulates the surface configuration of a cell.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5HYK7	SH3D19	SH3 domain-containing protein 19	Homo sapiens (Human)	PR
Q9Y371	SH3GLB1	Endophilin-B1	Homo sapiens (Human)	PR
Q99962	SH3GL2	Endophilin-A1	Homo sapiens (Human)	PR
Q99961	SH3GL1	Endophilin-A2	Homo sapiens (Human)	PR
Q99963	SH3GL3	Endophilin-A3	Homo sapiens (Human)	PR
Q9Y5K6	CD2AP	CD2-associated protein	Homo sapiens (Human)	SS
Q9JLQ0	Cd2ap	CD2-associated protein	Mus musculus (Mouse)	SS
Q8R550	Sh3kbp1	SH3 domain-containing kinase-binding protein 1	Mus musculus (Mouse)	SS
F1LRS8	Cd2ap	CD2-associated protein	Rattus norvegicus (Rat)	SS
Q925Q9	Sh3kbp1	SH3 domain-containing kinase-binding protein 1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MVEAIVEFDY	QAQHDDELTI	SVGEIITNIR	KEDGGWWEGQ	INGRRGLFPD	NFVREIKKEM
70	80	90	100	110	120
KKDPLTNKAP	EKPLHEVPSG	NSLLSSETIL	RTNKRGERRR	RRCQVAFSYL	PQNDDELELK
130	140	150	160	170	180
VGDIIEVVGE	VEEGWWEGVL	NGKTGMFPSN	FIKELSGESD	ELGISQDEQL	SKSSLRETTG
190	200	210	220	230	240
SESDGGDSSS	TKSEGANGTV	ATAAIQPKKV	KGVGFGDIFK	DKPIKLRPRS	IEVENDFLPV
250	260	270	280	290	300
EKTIGKKLPA	TTATPDSSKT	EMDSRTKSKD	YCKVIFPYEA	QNDDELTIKE	GDIVTLINKD
310	320	330	340	350	360
CIDVGWWEGE	LNGRRGVFPD	NFVKLLPPDF	EKEGNRPKKP	PPPSAPVIKQ	GAGTTERKHE
370	380	390	400	410	420
IKKIPPERPE	MLPNRTEEKE	RPEREPKLDL	QKPSVPAIPP	KKPRPPKTNS	LSRPGALPPR
430	440	450	460	470	480
RPERPVGPLT	HTRGDSPKID	LAGSSLSGIL	DKDLSDRSND	IDLEGFDSVV	SSTEKLSHPT
490	500	510	520	530	540
TSRPKATGRR	PPSQSLTSSS	LSSPDIFDSP	SPEEDKEEHI	SLAHRGVDAS	KKTSKTVTIS
550	560	570	580	590	600
QVSDNKASLP	PKPGTMAAGG	GGPAPLSSAA	PSPLSSSLGT	AGHRANSPSL	FGTEGKPKME
610	620	630	640	650	660
PAASSQAAVE	ELRTQVRELR	SIIETMKDQQ	KREIKQLLSE	LDEEKKIRLR	LQMEVNDIKK

ALQSK