AiPD: Autoinhibited Protein Database

Q07666

Gene name	KHDRBS1
Protein name	KH domain-containing, RNA-binding, signal transduction-associated protein 1
Names	GAP-associated tyrosine phosphoprotein p62, Src-associated in mitosis 68 kDa protein, Sam68, p21 Ras GTPase-activating protein-associated p62, p68
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10657
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-67 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-67 (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

7 structures for Q07666

Entry ID	Method	Resolution	Chain	Position	Source
2XA6	NMR	-	A/B	97-135	PDB
3QHE	X-ray	240 A	B/D	365-419	PDB
7Z89	X-ray	276 A	AAA/BBB	144-261	PDB
7Z9A	X-ray	257 A	AAA	143-259	PDB
7ZAB	X-ray	246 A	AAA	143-260	PDB
7ZAM	X-ray	279 A	AAA/BBB	143-260	PDB
AF-Q07666-F1	Predicted				AlphaFoldDB

287 variants for Q07666

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001270181 CA737769 rs750291697	421	P>L	Premature ovarian failure [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA339610898 rs1557886705	6	D>A		No	ClinGen Ensembl
rs762917162 CA737501	10	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766284175 CA737502	11	M>I		No	ClinGen ExAC TOPMed gnomAD
CA20181116 rs944005169	11	M>V		No	ClinGen Ensembl
CA339611063 rs1387575058	12	S>R		No	ClinGen TOPMed
rs12746359 CA20181122	14	S>C		No	ClinGen Ensembl
rs760747849 CA737504	15	S>L		No	ClinGen ExAC TOPMed gnomAD
CA339611159 rs764259849	16	G>R		No	ClinGen ExAC TOPMed gnomAD
CA737505 rs764259849	16	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1487679274 CA339611181	17	R>H		No	ClinGen gnomAD
CA339611215 rs754077786	18	S>R		No	ClinGen ExAC gnomAD
CA339611284 rs1435467970	20	S>F		No	ClinGen gnomAD
CA737507 rs757465968	20	S>P		No	ClinGen ExAC TOPMed gnomAD
CA339611294 rs1236791973	21	M>L		No	ClinGen TOPMed
rs779302687 CA737508	21	M>T		No	ClinGen ExAC gnomAD
TCGA novel	21	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339611430 rs936777260	22	D>E		No	ClinGen TOPMed gnomAD
CA339611417 rs1473036824	22	D>G		No	ClinGen gnomAD
rs750816164 CA737509	23	P>A		No	ClinGen ExAC TOPMed gnomAD
CA737510 rs750816164	23	P>S		No	ClinGen ExAC TOPMed gnomAD
rs750816164 CA339611437	23	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1404283083 CA339611496	24	S>F		No	ClinGen gnomAD
CA737511 rs369015624	25	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA20181155 rs1052519460	27	H>N		No	ClinGen TOPMed
rs923072413 CA20181159	27	H>P		No	ClinGen Ensembl
CA339611572 rs891666290	27	H>Q		No	ClinGen TOPMed gnomAD
CA339611607 rs1407985357	28	P>L		No	ClinGen gnomAD
CA737512 rs746456822	28	P>S		No	ClinGen ExAC gnomAD
CA339611617 rs1306868755	29	S>P		No	ClinGen gnomAD
CA339611634 rs1264519280	30	V>M		No	ClinGen Ensembl
CA339611666 rs1256946990	31	R>H		No	ClinGen TOPMed
rs1310080911 CA339611735	33	T>M		No	ClinGen gnomAD
rs1429294645 CA339611782	35	S>F		No	ClinGen gnomAD
rs1365919397 CA339611773	35	S>P		No	ClinGen TOPMed
rs1175296112 CA339611876	39	P>Q		No	ClinGen TOPMed
CA20181199 rs1004387150	39	P>S		No	ClinGen TOPMed gnomAD
rs1569749731 CA339611945	41	P>L		No	ClinGen Ensembl
CA339611980 rs1203713437	42	H>Y		No	ClinGen gnomAD
CA20181223 rs1029097851	45	R>G		No	ClinGen TOPMed
CA339612080 rs1389623685	45	R>Q		No	ClinGen TOPMed
CA339612089 rs1206372199	46	G>R		No	ClinGen Ensembl
rs1281104109 CA339612202	50	G>E		No	ClinGen TOPMed
CA339612193 rs1222718899	50	G>R		No	ClinGen TOPMed
rs960009019 CA20181233	51	S>F		No	ClinGen Ensembl
CA339612225 rs1260868225	52	R>S		No	ClinGen gnomAD
rs1321754930 CA339612287	54	G>D		No	ClinGen TOPMed
rs1012535544 CA20181234	55	A>V		No	ClinGen TOPMed gnomAD
rs1006416638 CA20181235	56	R>W		No	ClinGen TOPMed
rs1204081179 CA339612384	57	A>V		No	ClinGen gnomAD
rs1411845856 CA339612409	58	S>L		No	ClinGen TOPMed gnomAD
CA339612541 rs1473193198	64	P>S		No	ClinGen TOPMed
CA20181242 rs544360586	65	P>L		No	ClinGen Ensembl
CA20181240 rs544360586	65	P>R		No	ClinGen Ensembl
rs1264826573 CA339612602	67	L>Q		No	ClinGen gnomAD
CA20181263 rs961750842	69	P>A		No	ClinGen TOPMed
rs1445179215 CA339612647	69	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs762667767 CA737518	70	S>L		No	ClinGen ExAC TOPMed gnomAD
CA339612663 rs1372027697	70	S>P		No	ClinGen TOPMed
rs1167822080 CA339612735	71	A>V		No	ClinGen gnomAD
CA339612756 rs1371116348	72	T>M		No	ClinGen gnomAD
rs1475786726 CA339612741	72	T>S		No	ClinGen TOPMed gnomAD
rs1196067556 CA339612782	73	G>A		No	ClinGen gnomAD
CA339612820 rs1300613647	74	P>H		No	ClinGen TOPMed gnomAD
CA339612819 rs1300613647	74	P>L		No	ClinGen TOPMed gnomAD
CA20181268 rs992335624	74	P>S		No	ClinGen TOPMed gnomAD
rs528464512 CA737519	78	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1352710713 CA339613009	80	G>A		No	ClinGen Ensembl
CA339613042 rs1361952216	81	P>L		No	ClinGen TOPMed gnomAD
rs760696661 CA737521	81	P>S		No	ClinGen ExAC gnomAD
CA737522 rs764132945	82	A>T		No	ClinGen ExAC gnomAD
CA20181293 rs981028991	82	A>V		No	ClinGen TOPMed
rs1404891775 CA339613071	83	P>T		No	ClinGen TOPMed gnomAD
CA20181311 rs925306912	85	P>L		No	ClinGen TOPMed gnomAD
CA339613129 rs1206677727	85	P>S		No	ClinGen gnomAD
rs867892253 CA20181341	86	L>P		No	ClinGen Ensembl
rs1557886956 CA339613205	88	P>L		No	ClinGen Ensembl
rs535621173 CA20181345	89	P>A		No	ClinGen 1000Genomes TOPMed gnomAD
CA339613223 rs936680295	89	P>H		No	ClinGen TOPMed gnomAD
rs936680295 CA20181347	89	P>L		No	ClinGen TOPMed gnomAD
rs535621173 CA20181343	89	P>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA737526 rs750743983	90	S>L		No	ClinGen ExAC gnomAD
CA339613230 rs1431607268	90	S>P		No	ClinGen gnomAD
rs375777010 CA20181369	91	A>T		No	ClinGen ESP TOPMed gnomAD
CA339613264 rs1280914556	92	T>A		No	ClinGen TOPMed gnomAD
CA20181376 rs758697117	93	A>D		No	ClinGen ExAC gnomAD
rs758697117 CA339613289	93	A>G		No	ClinGen ExAC gnomAD
CA737527 rs758697117	93	A>V		No	ClinGen ExAC gnomAD
CA20181400 rs867196638	94	S>*		No	ClinGen Ensembl
CA339613349 rs1569750668	95	V>G		No	ClinGen Ensembl
rs1433295476 CA339613354	96	K>E		No	ClinGen gnomAD
CA737529 rs752135277	96	K>R		No	ClinGen ExAC gnomAD
CA20181405 rs1040200101	97	M>R		No	ClinGen TOPMed
rs1366528461 CA339613388	98	E>K		No	ClinGen gnomAD
CA339613418 rs1216899852	99	P>L		No	ClinGen gnomAD
CA339613438 rs755592365	100	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1297897247 CA339613623	107	L>F		No	ClinGen TOPMed
rs755732726 CA737533	108	M>I		No	ClinGen ExAC gnomAD
CA339613646 rs1342872305	108	M>L		No	ClinGen TOPMed
rs1189328530 CA339613706	110	E>D		No	ClinGen gnomAD
CA339613735 rs1276390193	112	D>G		No	ClinGen gnomAD
CA339614404 rs774175994	116	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774175994 CA737537	116	P>R		No	ClinGen ExAC TOPMed gnomAD
CA339614468 rs772060487	119	T>I		No	ClinGen ExAC gnomAD
CA737539 rs772060487	119	T>S		No	ClinGen ExAC gnomAD
CA737540 rs776756368	121	A>T		No	ClinGen ExAC TOPMed gnomAD
CA20181494 rs867731777	121	A>V		No	ClinGen Ensembl
rs1367556451 CA339614525	122	M>T		No	ClinGen gnomAD
CA737542 rs765436619	122	M>V		No	ClinGen ExAC gnomAD
CA20181505 rs1004376988	126	T>M		No	ClinGen TOPMed gnomAD
rs1471636698 CA339620202	130	E>G		No	ClinGen TOPMed gnomAD
rs913483615 CA20192629	131	K>N		No	ClinGen TOPMed
CA339620268 rs946325938	132	I>L		No	ClinGen TOPMed
CA20192642 rs946325938	132	I>V		No	ClinGen TOPMed
rs745718074 CA737557	133	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs771937370 CA737558	133	Q>L		No	ClinGen ExAC gnomAD
CA737559 rs775296903	134	K>Q		No	ClinGen ExAC gnomAD
CA20192678 rs561591917	135	G>A		No	ClinGen 1000Genomes
rs1437132344 CA339620437	136	D>H		No	ClinGen TOPMed
rs769790705 CA737561	137	S>L		No	ClinGen ExAC gnomAD
rs773390838 CA737562	139	K>M		No	ClinGen ExAC gnomAD
TCGA novel	139	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339620698 rs1446163598	140	D>E		No	ClinGen gnomAD
rs763237333 CA737563	140	D>H		No	ClinGen ExAC TOPMed gnomAD
rs763237333 CA339620592	140	D>N		No	ClinGen ExAC TOPMed gnomAD
CA339620598 rs763237333	140	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA339620710 rs1283374980	141	D>H		No	ClinGen TOPMed gnomAD
CA339620771 rs1422109849	142	E>D		No	ClinGen TOPMed gnomAD
rs1179505360	143	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369020816 CA20192697	143	E>A		No	ClinGen ESP TOPMed
CA737564 rs766776350	143	E>K		No	ClinGen ExAC gnomAD
rs765072840 CA20192706	144	N>K		No	ClinGen gnomAD
CA339620826 rs1174383456	144	N>Y		No	ClinGen TOPMed
TCGA novel	150	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA737566 rs759982153	151	H>P		No	ClinGen ExAC gnomAD
rs768027370 CA737567	152	K>E		No	ClinGen ExAC gnomAD
TCGA novel	159	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753165934 CA737568	159	R>Q		No	ClinGen ExAC gnomAD
rs761293742 CA737569	163	P>A		No	ClinGen ExAC TOPMed gnomAD
CA339621593 rs1327380837	165	K>R		No	ClinGen TOPMed
rs1337932740 CA339621645	167	Y>H		No	ClinGen TOPMed
CA20192752 rs1048194747	168	P>L		No	ClinGen Ensembl
CA20192751 rs866501073	168	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA737589 rs761314139	180	Q>*		No	ClinGen ExAC gnomAD
rs761314139 CA339623508	180	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	188	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339623843 rs1259772519	190	E>K		No	ClinGen TOPMed
CA339624056 rs1231847327	197	V>L		No	ClinGen gnomAD
rs1238091537 CA339624214	201	G>D		No	ClinGen gnomAD
CA339624222 rs1199516245	202	S>T		No	ClinGen TOPMed
CA339624282 rs1450001781	203	M>R		No	ClinGen TOPMed
rs373475108 CA20193579	203	M>V		No	ClinGen ESP gnomAD
rs1325224707 CA339624354	205	D>E		No	ClinGen gnomAD
COSM185590 CA339625242 rs1354857143	213	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1209699730 CA339625251	213	R>H		No	ClinGen gnomAD
CA339625321 rs1490848036	215	G>D		No	ClinGen TOPMed gnomAD
CA339625295 rs1569794816	215	G>S		No	ClinGen Ensembl
rs1180143049 CA339625357	216	G>E		No	ClinGen gnomAD
rs1160997272 CA339625550	221	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA339625672 rs1457219560	224	N>S		No	ClinGen gnomAD
rs1367396015 CA339625702	225	M>K		No	ClinGen TOPMed gnomAD
CA339625704 rs1367396015	225	M>T		No	ClinGen TOPMed gnomAD
CA339625695 rs1164069438	225	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA737613 rs754809219	226	D>E		No	ClinGen ExAC gnomAD
CA339625759 rs1442081921	226	D>G		No	ClinGen gnomAD
rs779126582 CA737617	231	I>L		No	ClinGen ExAC gnomAD
rs779126582 CA339625903	231	I>V		No	ClinGen ExAC gnomAD
CA339626033 rs1424748890	236	P>S		No	ClinGen gnomAD
rs1339017974 CA339626074	237	P>A		No	ClinGen gnomAD
TCGA novel	237	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA737620 rs758491066	238	C>F		No	ClinGen ExAC gnomAD
rs758491066 CA737619	238	C>Y		No	ClinGen ExAC gnomAD
rs1382962110 CA339626132	239	E>D		No	ClinGen TOPMed
rs1362266993 CA339626237	242	A>S		No	ClinGen gnomAD
TCGA novel	244	M>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA737621 rs747294099	245	A>T		No	ClinGen ExAC gnomAD
CA20194800 rs765730309	246	H>R		No	ClinGen TOPMed
rs942855399 CA20194810	249	E>G		No	ClinGen Ensembl
CA737624 rs748624108	254	F>S		No	ClinGen ExAC gnomAD
TCGA novel	254	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	257	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1447440040 CA339628646	258	D>H		No	ClinGen gnomAD
CA20197513 rs768107967	262	D>G		No	ClinGen TOPMed gnomAD
CA737637 rs780092598	266	E>V		No	ClinGen ExAC gnomAD
CA737640 rs781533157	277	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1358190786 CA339628982	278	P>S		No	ClinGen gnomAD
CA339629085 rs748574978	282	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748574978 CA737642	282	R>L		No	ClinGen ExAC gnomAD
rs748574978 CA737641	282	R>P		No	ClinGen ExAC gnomAD
rs1337794356 CA339629100	283	G>E		No	ClinGen TOPMed gnomAD
rs773716292 CA737643	284	R>C		No	ClinGen ExAC TOPMed gnomAD
CA737644 rs375097901 COSM908229	284	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs375097901 CA339629118	284	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1288747460 CA339629133	285	G>V		No	ClinGen gnomAD
rs1166252251 CA339629143	286	V>L		No	ClinGen gnomAD
rs1363307466 CA339629181	288	V>L		No	ClinGen gnomAD
CA737645 rs572836183	290	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1299359873 CA339629237	291	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	291	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	294	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143541210 CA737648	296	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1283601987 CA339629383	297	P>L		No	ClinGen TOPMed
rs953556493 CA20197570	299	P>A		No	ClinGen TOPMed gnomAD
rs775366934 CA737649	299	P>H		No	ClinGen ExAC gnomAD
rs775366934 CA339629426	299	P>L		No	ClinGen ExAC gnomAD
rs1218530468 CA339629445	301	P>A		No	ClinGen TOPMed
TCGA novel	301	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201052332 CA20197575	302	R>G		No	ClinGen Ensembl
rs149135885 CA737674	304	R>H		No	ClinGen ESP ExAC gnomAD
rs759619655 CA737675	306	V>I		No	ClinGen ExAC gnomAD
rs989486033 CA20198232	308	P>L		No	ClinGen Ensembl
rs1425349014 CA339629819	310	R>P		No	ClinGen TOPMed gnomAD
rs1425349014 CA339629822	310	R>Q		No	ClinGen TOPMed gnomAD
rs1365545139	312	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1305090744 CA339629850	312	A>S		No	ClinGen gnomAD
CA339629871 rs1372180017	313	L>S		No	ClinGen TOPMed
rs913918478 CA20198250	315	R>C		No	ClinGen Ensembl
CA737677 rs752942095	315	R>H		No	ClinGen ExAC TOPMed gnomAD
rs756366396 CA737678	316	G>S		No	ClinGen ExAC gnomAD
rs778191932 CA737679	317	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1290893241 CA339629921	318	P>A		No	ClinGen gnomAD
rs1290893241 CA339629923	318	P>S		No	ClinGen gnomAD
rs553328120 CA20198266	319	V>I		No	ClinGen gnomAD
CA737681 rs757720674	324	T>A		No	ClinGen ExAC TOPMed gnomAD
CA737683 rs745330014	326	G>D		No	ClinGen ExAC gnomAD
rs770711879 CA737684	327	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1569804937 CA339630097	328	T>N		No	ClinGen Ensembl
CA339630092 rs1471340162	328	T>S		No	ClinGen gnomAD
CA737685 rs779757534	330	T>I		No	ClinGen ExAC gnomAD
CA339630202 rs1294530012	331	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs202020019 CA737687	333	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339630296 rs1569805014	335	P>S		No	ClinGen Ensembl
CA339630355 rs1192162833	338	T>A		No	ClinGen TOPMed
rs776474724 CA737688	338	T>S		No	ClinGen ExAC gnomAD
CA737689 rs747909018	339	V>L		No	ClinGen ExAC gnomAD
CA339630405 rs1557896691	341	G>C		No	ClinGen Ensembl
rs1425351460 CA339630406	341	G>D		No	ClinGen TOPMed gnomAD
rs769709814 CA737690	343	P>S		No	ClinGen ExAC gnomAD
rs773058631 CA737691	348	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA339630639 rs1467950277	350	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA737694 rs775610658	351	G>V		No	ClinGen ExAC gnomAD
CA339630749 rs1295336277	355	I>L		No	ClinGen gnomAD
rs1295336277 CA339630747	355	I>V		No	ClinGen gnomAD
CA339630778 rs1175400219	356	P>L		No	ClinGen gnomAD
CA737697 rs754164086	356	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754164086 CA339630767	356	P>T		No	ClinGen ExAC TOPMed gnomAD
CA737699 rs765724093	360	P>H		No	ClinGen ExAC gnomAD
CA339630861 rs1458299408	362	A>T		No	ClinGen TOPMed
CA339630874 rs1202159822	362	A>V		No	ClinGen gnomAD
CA20198380 rs909793262	365	T>A		No	ClinGen gnomAD
rs1371870367 CA339631076	368	E>G		No	ClinGen gnomAD
rs1350830627 CA339631333	372	D>N		No	ClinGen TOPMed
CA737722 rs758962637	373	D>N		No	ClinGen ExAC gnomAD
rs559949458 CA20198795	376	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559949458 CA737725	376	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1225712816 CA339631459	377	E>Q		No	ClinGen gnomAD
rs1264506312 CA339631637	382	G>D		No	ClinGen gnomAD
CA339631667 rs1489868262	383	Y>C		No	ClinGen gnomAD
COSM71285 rs777529270 CA737730	384	E>K	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1179385080 COSM681125 CA339631742	386	Y>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs985968109 CA20198827	387	Y>H		No	ClinGen Ensembl
rs375082282 CA20198832	389	Q>R		No	ClinGen Ensembl
CA339631856 rs1569806459	390	S>T		No	ClinGen Ensembl
rs770784790 CA339631889	391	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA20198840 rs866218538	391	Q>R		No	ClinGen Ensembl
CA737733 rs778852847	392	G>R		No	ClinGen ExAC gnomAD
rs1197386198 CA339632326	398	D>V		No	ClinGen TOPMed
COSM3741224 CA339632334 rs1256114017	399	Y>C	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA339632353 rs1569807849	402	G>R		No	ClinGen Ensembl
rs41263985 CA20199363	403	E>K		No	ClinGen TOPMed
rs1199090348 CA339632385	406	D>G		No	ClinGen TOPMed
CA737748 rs777403559	408	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752076775 CA737763	412	G>V		No	ClinGen ExAC gnomAD
CA339632450 rs1261727666	414	D>N		No	ClinGen gnomAD
CA339632452 rs1261727666	414	D>Y		No	ClinGen gnomAD
CA737766 rs141783853	415	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	419	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778673209 CA339632502	420	R>S		No	ClinGen ExAC gnomAD
rs1177667747 CA339632504	421	P>S		No	ClinGen gnomAD
CA20201064 rs900511459	422	S>L		No	ClinGen Ensembl
CA339632555 rs1281578850	429	R>M		No	ClinGen gnomAD
TCGA novel	432	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339632589 rs1345169004	434	A>V		No	ClinGen gnomAD
rs1223882540 CA339632595	435	Y>C		No	ClinGen gnomAD
CA737775 rs141763752	437	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs746246308 CA737778	442	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA20201109 rs998460178	442	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD

No associated diseases with Q07666

4 regional properties for Q07666

Type	Name	Position	InterPro Accession
domain	K Homology domain	154 - 252	IPR004087
domain	K Homology domain, type 1	158 - 214	IPR004088
domain	Sam68, tyrosine-rich domain	366 - 415	IPR032335
domain	KHDRBS, Qua1 domain	102 - 153	IPR032571

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Membrane	Predominantly located in the nucleus but also located partially in the cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
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.
Grb2-Sos complex	A protein complex that contains Grb2 and the guanine nucleotide exchange factor Sos (or an ortholog thereof, such as mSos1), and is involved in linking EGFR activation to the p21-Ras pathway.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

12 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
identical protein binding	Binding to an identical protein or proteins.
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
poly(A) binding	Binding to a sequence of adenylyl residues in an RNA molecule, such as the poly(A) tail, a sequence of adenylyl residues at the 3' end of eukaryotic mRNA.
poly(U) RNA binding	Binding to a sequence of uracil residues in an RNA molecule.
protein domain specific binding	Binding to a specific domain of a protein.
protein tyrosine kinase binding	Binding to protein tyrosine kinase.
protein-containing complex binding	Binding to a macromolecular complex.
RNA binding	Binding to an RNA molecule or a portion thereof.
SH2 domain binding	Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class.
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.
signaling adaptor activity	The binding activity of a molecule that brings together two or more molecules in a signaling pathway, permitting those molecules to function in a coordinated way. Adaptor molecules themselves do not have catalytic activity.

12 GO annotations of biological process

Name	Definition
G1/S transition of mitotic cell cycle	The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated.
G2/M transition of mitotic cell cycle	The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex.
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of RNA export from nucleus	Any process that activates or increases the frequency, rate or extent of directed movement of RNA from the nucleus into the cytoplasm.
positive regulation of translational initiation	Any process that activates or increases the frequency, rate or extent of translational initiation.
regulation of alternative mRNA splicing, via spliceosome	Any process that modulates the frequency, rate or extent of alternative splicing of nuclear mRNAs.
regulation of mRNA splicing, via spliceosome	Any process that modulates the frequency, rate or extent of mRNA splicing via a spliceosomal mechanism.
regulation of RNA export from nucleus	Any process that modulates the frequency, rate or extent of the directed movement of RNA from the nucleus to the cytoplasm.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
T cell receptor signaling pathway	The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5VWX1	KHDRBS2	KH domain-containing, RNA-binding, signal transduction-associated protein 2	Homo sapiens (Human)	PR
Q60749	Khdrbs1	KH domain-containing, RNA-binding, signal transduction-associated protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MQRRDDPAAR	MSRSSGRSGS	MDPSGAHPSV	RQTPSRQPPL	PHRSRGGGGG	SRGGARASPA
70	80	90	100	110	120
TQPPPLLPPS	ATGPDATVGG	PAPTPLLPPS	ATASVKMEPE	NKYLPELMAE	KDSLDPSFTH
130	140	150	160	170	180
AMQLLTAEIE	KIQKGDSKKD	DEENYLDLFS	HKNMKLKERV	LIPVKQYPKF	NFVGKILGPQ
190	200	210	220	230	240
GNTIKRLQEE	TGAKISVLGK	GSMRDKAKEE	ELRKGGDPKY	AHLNMDLHVF	IEVFGPPCEA
250	260	270	280	290	300
YALMAHAMEE	VKKFLVPDMM	DDICQEQFLE	LSYLNGVPEP	SRGRGVPVRG	RGAAPPPPPV
310	320	330	340	350	360
PRGRGVGPPR	GALVRGTPVR	GAITRGATVT	RGVPPPPTVR	GAPAPRARTA	GIQRIPLPPP
370	380	390	400	410	420
PAPETYEEYG	YDDTYAEQSY	EGYEGYYSQS	QGDSEYYDYG	HGEVQDSYEA	YGQDDWNGTR
430	440
PSLKAPPARP	VKGAYREHPY	GRY