AiPD: Autoinhibited Protein Database

Q9Y5Y7

Gene name	LYVE1 (CRSBP1, HAR, XLKD1, UNQ230/PRO263)
Protein name	Lymphatic vessel endothelial hyaluronic acid receptor 1
Names	LYVE-1, Cell surface retention sequence-binding protein 1, CRSBP-1, Extracellular link domain-containing protein 1, Hyaluronic acid receptor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10894
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

242-322 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

242-322 (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 Q9Y5Y7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y5Y7-F1	Predicted				AlphaFoldDB

263 variants for Q9Y5Y7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1199189534 CA379655381	2	A>G		No	ClinGen gnomAD
rs762872131 CA5883807	6	S>R		No	ClinGen ExAC TOPMed gnomAD
rs79727467 CA217669661	9	L>*		No	ClinGen Ensembl
CA217669665 rs77800052	9	L>M		No	ClinGen Ensembl
rs76181502 CA217669656	10	L>H		No	ClinGen Ensembl
rs761190228 CA5883804	11	L>F		No	ClinGen ExAC gnomAD
CA5883803 rs145001787	12	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379655319 rs1269805849	12	T>I		No	ClinGen TOPMed
TCGA novel	13	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379655312 rs1463361432	14	I>L		No	ClinGen TOPMed
rs746630267 CA5883801	16	T>S		No	ClinGen ExAC TOPMed gnomAD
rs771190217 CA5883799	17	T>A		No	ClinGen ExAC gnomAD
CA5883798 rs749679062	17	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379655271 rs1160494498	20	L>P		No	ClinGen TOPMed
rs370756319 CA5883793	23	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA217669596 rs377222811	24	S>F		No	ClinGen ESP TOPMed
CA217669590 rs1027875981	25	L>W		No	ClinGen Ensembl
CA5883791 rs766644059	26	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758069812 COSM428323 CA5883790	26	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1194262676 CA379655229	28	E>K		No	ClinGen TOPMed gnomAD
CA379655228 rs1194262676	28	E>Q		No	ClinGen TOPMed gnomAD
CA379655221 rs1290108163	29	E>K		No	ClinGen TOPMed
CA5883775 rs747105019	30	L>P		No	ClinGen ExAC gnomAD
CA379654830 rs1323276897	31	S>F		No	ClinGen gnomAD
rs1196188971 CA379654840	31	S>P		No	ClinGen gnomAD
rs1338564200 CA379654817	32	I>T		No	ClinGen gnomAD
CA379654825 rs1460206771	32	I>V		No	ClinGen TOPMed
rs780183406 CA5883774	34	V>M		No	ClinGen ExAC gnomAD
CA5883771 rs778739711	36	C>G		No	ClinGen ExAC TOPMed gnomAD
rs757068480 CA379654742	36	C>W		No	ClinGen ExAC TOPMed gnomAD
CA5883768 rs764143601	39	M>T		No	ClinGen ExAC TOPMed gnomAD
rs753816552 CA5883769	39	M>V		No	ClinGen ExAC gnomAD
rs760200763 CA5883767	41	I>S		No	ClinGen ExAC gnomAD
rs760200763 CA379654710	41	I>T		No	ClinGen ExAC gnomAD
CA217666670 rs1048193450	42	T>A		No	ClinGen Ensembl
CA379654705 rs770932220	42	T>I		No	ClinGen TOPMed gnomAD
rs770932220 CA217666669	42	T>N		No	ClinGen TOPMed gnomAD
CA217666645 rs370231812	43	L>P		No	ClinGen ESP TOPMed
rs767024076 CA5883765	44	V>M		No	ClinGen ExAC
rs1338571616 CA379654676	47	K>*		No	ClinGen TOPMed
rs1165857871 CA379654673	47	K>T		No	ClinGen gnomAD
TCGA novel	48	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5883764 rs759199614	48	A>T		No	ClinGen ExAC gnomAD
CA5883763 rs141249676 COSM922521	48	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs146540416 CA5883761	50	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5883760 rs146540416	50	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA379654654 rs1364436943	50	Q>H		No	ClinGen gnomAD
CA217666590 rs949019231	51	Q>R		No	ClinGen Ensembl
rs375834783 CA5883759	55	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA379654608 rs1249358871	57	A>G		No	ClinGen gnomAD
rs1436291521 CA379654609	57	A>S		No	ClinGen gnomAD
rs1290897920 CA379654591	59	E>D		No	ClinGen gnomAD
rs1490499830 CA379654593	59	E>G		No	ClinGen gnomAD
CA5883756 rs143843236	60	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5883757 rs143843236	60	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746100946 CA5883755	61	C>S		No	ClinGen ExAC gnomAD
CA379654582 rs746100946	61	C>Y		No	ClinGen ExAC gnomAD
rs149004349 CA5883753	65	G>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs753695278 CA5883752	65	G>V		No	ClinGen ExAC TOPMed gnomAD
CA5883751 rs202234918	66	L>P		No	ClinGen ExAC TOPMed
TCGA novel	69	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs79541972 CA379654518	70	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs79541972 CA5883748	70	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754774378 CA5883747	71	K>M		No	ClinGen ExAC TOPMed gnomAD
CA379654469 rs1373591005	73	Q>K		No	ClinGen TOPMed
rs1364348860 CA379654436	75	E>Q		No	ClinGen gnomAD
CA5883745 rs754510091	76	T>I		No	ClinGen ExAC TOPMed gnomAD
rs765958895 CA5883744	77	A>D		No	ClinGen ExAC TOPMed gnomAD
CA5883743 rs765958895	77	A>G		No	ClinGen ExAC TOPMed gnomAD
rs548675012 CA5883741	80	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379654333 rs1201359067	81	S>N		No	ClinGen gnomAD
CA379654322 rs1386492796	81	S>R		No	ClinGen TOPMed gnomAD
CA5883740 rs764492703	82	F>S		No	ClinGen ExAC gnomAD
rs946575494 CA217666501	84	T>I		No	ClinGen TOPMed gnomAD
rs946575494 CA379654264	84	T>N		No	ClinGen TOPMed gnomAD
rs1448655715 CA379654232	86	S>N		No	ClinGen gnomAD
rs776009596 CA5883720	87	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA217666348 rs1023052438	87	Y>N		No	ClinGen TOPMed
rs1305798671 CA379654123	89	W>*		No	ClinGen TOPMed
rs1270170995 CA379654126	89	W>*		No	ClinGen gnomAD
rs1305798671 CA379654121	89	W>C		No	ClinGen TOPMed
rs759624633 CA5883718	90	V>G		No	ClinGen ExAC gnomAD
rs1433501817 CA379654119	90	V>L		No	ClinGen TOPMed gnomAD
CA379654097 rs1357584471	93	G>E		No	ClinGen gnomAD
rs952257251 CA217666329	93	G>R		No	ClinGen TOPMed gnomAD
rs139582089 CA5883716	95	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA379654082 rs1564878799	96	V>L		No	ClinGen Ensembl
rs749486603 CA5883715	101	S>G		No	ClinGen ExAC TOPMed gnomAD
rs773633079 CA5883714	102	P>Q		No	ClinGen ExAC gnomAD
rs1167934257 CA379654041	102	P>S		No	ClinGen gnomAD
rs147788904 CA5883713	104	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379654007 rs1482739413	107	G>R		No	ClinGen gnomAD
CA5883711 rs781115974	108	K>E		No	ClinGen ExAC gnomAD
CA5883709 rs183775500	111	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA217666292 rs1055929181	111	V>M		No	ClinGen TOPMed
CA5883708 rs779509043	112	G>S		No	ClinGen ExAC gnomAD
CA5883707 rs757970448	113	V>I		No	ClinGen ExAC TOPMed gnomAD
rs144289891 CA5883706	114	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA217666243 VAR_027763 rs17852369	116	W>R		No	ClinGen UniProt Ensembl dbSNP
rs756437037 CA5883704	117	K>E		No	ClinGen ExAC gnomAD
CA5883702 rs768023465	118	V>A		No	ClinGen ExAC gnomAD
CA5883703 rs753037247	118	V>L		No	ClinGen ExAC gnomAD
CA5883701 rs140328426	119	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs573107264 CA5883700	122	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5883699 rs150509271	122	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs949259277 CA217666203	125	A>E		No	ClinGen Ensembl
rs763181084 CA217666189	127	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs141810207 CA217666196	127	Y>C		No	ClinGen ESP TOPMed
rs773508257 CA5883697	129	Y>*		No	ClinGen ExAC gnomAD
rs1422771238 CA379653874	129	Y>H		No	ClinGen gnomAD
TCGA novel	132	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178638190 CA379653852	132	S>P		No	ClinGen gnomAD
rs1352009475 CA379653176	134	T>S		No	ClinGen TOPMed
rs374173885 CA5883678	135	W>C		No	ClinGen ESP ExAC gnomAD
rs761918082 CA5883677	136	T>I		No	ClinGen ExAC TOPMed gnomAD
rs768324196 CA5883675	138	S>L		No	ClinGen ExAC TOPMed gnomAD
CA379653148 rs768324196	138	S>W		No	ClinGen ExAC TOPMed gnomAD
CA379653139 rs1301716861	140	I>L		No	ClinGen gnomAD
rs1293101263 CA379653128	141	P>L		No	ClinGen gnomAD
CA5883672 rs772031571	141	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1365331127 CA379653117	143	I>F		No	ClinGen gnomAD
CA379653111 rs1453799245	144	I>L		No	ClinGen TOPMed gnomAD
CA379653108 rs1387231691	144	I>T		No	ClinGen gnomAD
CA379653112 rs1453799245	144	I>V		No	ClinGen TOPMed gnomAD
rs745336503 CA5883670	146	T>S		No	ClinGen ExAC gnomAD
CA5883668 rs778376672 CA379653080	148	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5883666 rs748884292	150	I>T		No	ClinGen ExAC gnomAD
CA5883665 rs777536488	152	N>H		No	ClinGen ExAC gnomAD
rs747380310 CA5883663	153	T>I		No	ClinGen ExAC gnomAD
CA5883661 rs758995339	156	A>V		No	ClinGen ExAC gnomAD
CA379653023 rs1256378443	157	T>I		No	ClinGen gnomAD
CA379653020 rs1232467116	158	Q>*		No	ClinGen TOPMed
CA379653018 rs1232192253	158	Q>R		No	ClinGen gnomAD
CA5883660 rs751015654	160	T>I		No	ClinGen ExAC gnomAD
CA5883659 rs765199700	161	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA217663653 rs76097537	162	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5883658 rs529330119	163	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs753949467 CA5883657	164	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1183639004 CA379652978	165	S>R		No	ClinGen TOPMed
CA5883655 rs760424700	168	T>I		No	ClinGen ExAC TOPMed gnomAD
rs72861055 CA5883654	169	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379652947 rs1591513366	169	Y>S		No	ClinGen Ensembl
rs188696058 CA5883653	170	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs975543146 CA379652933	171	V>A		No	ClinGen TOPMed gnomAD
rs975543146 CA217663615	171	V>G		No	ClinGen TOPMed gnomAD
rs1327799050 CA379652923	173	S>C		No	ClinGen TOPMed
rs1591513354 CA379652925	173	S>P		No	ClinGen Ensembl
CA379652911 rs1591513346	175	Y>S		No	ClinGen Ensembl
CA5883651 rs774335191	177	T>P		No	ClinGen ExAC gnomAD
rs769515509 CA5883647	181	P>H		No	ClinGen ExAC gnomAD
rs772670938 CA5883648	181	P>T		No	ClinGen ExAC gnomAD
rs1169287640 CA379652839	182	T>I		No	ClinGen gnomAD
CA5883645 rs138655778	184	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5883643 rs779489417	184	T>I		No	ClinGen ExAC gnomAD
CA5883644 rs138655778	184	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs779489417 CA5883642	184	T>S		No	ClinGen ExAC gnomAD
rs370131924 CA5883640	185	P>L		No	ClinGen ESP ExAC TOPMed
rs749336203 COSM1350607 CA5883641	185	P>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764175570 CA5883639	186	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1229136518 CA379652790	186	P>S		No	ClinGen TOPMed gnomAD
rs756309261 CA5883637	189	A>V		No	ClinGen ExAC gnomAD
CA379652715 rs1340516763	190	S>Y		No	ClinGen gnomAD
rs752960499 CA5883636	191	T>S		No	ClinGen ExAC gnomAD
CA5883635 rs767300063	192	S>T		No	ClinGen ExAC gnomAD
CA379652686 rs1213730585	192	S>Y		No	ClinGen TOPMed
rs1199260512 CA379652677	193	I>V		No	ClinGen gnomAD
CA217663501 rs865971373	194	P>S		No	ClinGen Ensembl
CA5883633 rs774095385	195	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5883634 rs200251557	195	R>W		No	ClinGen ExAC TOPMed gnomAD
CA379652597 rs1165579258	198	K>E		No	ClinGen gnomAD
rs1241350290	198	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379652600 rs1165579258	198	K>Q		No	ClinGen gnomAD
TCGA novel	198	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200474910 CA217663481	199	L>M		No	ClinGen 1000Genomes gnomAD
rs1367939450 CA379652573	199	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1439772218 CA379652554	200	I>T		No	ClinGen TOPMed gnomAD
CA5883631 rs766342469	201	C>F		No	ClinGen ExAC gnomAD
rs926700705 CA217663468	203	T>S		No	ClinGen TOPMed
CA379652494 rs1205532630	204	E>Q		No	ClinGen gnomAD
rs912802779 CA217663454	205	V>A		No	ClinGen Ensembl
rs376908330 CA5883630	207	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs145069203 CA5883629	208	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747770568 CA5883627	210	S>I		No	ClinGen ExAC TOPMed gnomAD
rs747770568 CA379652380	210	S>N		No	ClinGen ExAC TOPMed gnomAD
CA217663430 rs201397416	210	S>R		No	ClinGen 1000Genomes
CA379652352 rs1216598499	212	M>L		No	ClinGen TOPMed gnomAD
rs16907980 CA5883625 VAR_027764	214	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs746240000 CA5883624	218	P>A		No	ClinGen ExAC TOPMed gnomAD
CA379652230 rs1435590738	219	F>L		No	ClinGen TOPMed gnomAD
rs1329268618 CA379652209	220	V>I		No	ClinGen TOPMed gnomAD
CA5883623 rs373364929	221	E>A		No	ClinGen ESP ExAC gnomAD
CA379652145 rs1275202925	223	K>R		No	ClinGen TOPMed
rs746598821 CA217663407	224	A>E		No	ClinGen ExAC TOPMed gnomAD
rs746598821 CA5883622	224	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5883620 rs200122188	226	F>L		No	ClinGen ExAC TOPMed gnomAD
rs756257871 CA5883619	229	E>G		No	ClinGen ExAC gnomAD
rs955203466 CA217663362	230	A>G		No	ClinGen TOPMed
rs1029365465 CA379652061	231	A>P		No	ClinGen TOPMed gnomAD
rs1029365465 CA217663358	231	A>S		No	ClinGen TOPMed gnomAD
CA379652055 rs1181695781	232	G>E		No	ClinGen gnomAD
rs377086414 CA217663341	232	G>R		No	ClinGen ESP TOPMed gnomAD
rs1250490225 CA379652044	234	G>R		No	ClinGen TOPMed
rs1564877393 CA379652036	235	G>R		No	ClinGen Ensembl
rs768456049 CA5883607	236	V>I		No	ClinGen ExAC gnomAD
CA5883604 rs771243144	238	T>M		No	ClinGen ExAC TOPMed gnomAD
CA379651261 rs1236602144	240	L>P		No	ClinGen gnomAD
rs1011426411 CA217662825	244	A>V		No	ClinGen TOPMed
rs1326559895 CA379651158	245	L>F		No	ClinGen gnomAD
rs533840110 CA5883601	245	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA379651130 rs1268203046	247	F>L		No	ClinGen TOPMed
CA5883598 rs140605904	249	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213569722 CA379651087	249	G>S		No	ClinGen TOPMed
rs1433490448 CA379651074	250	A>T		No	ClinGen gnomAD
rs371884025 CA217662782	251	A>T		No	ClinGen ESP TOPMed
CA379651045 rs1366108622	252	A>T		No	ClinGen gnomAD
CA5883597 rs755217678	252	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1271386448 CA379651029	253	G>S		No	ClinGen TOPMed
CA379650998 rs1408514024	254	L>R		No	ClinGen gnomAD
CA5883595 rs151319034	255	G>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA379650992 rs1424178195	256	F>I		No	ClinGen gnomAD
CA379650980 rs779868511	257	C>F		No	ClinGen ExAC TOPMed gnomAD
CA5883594 rs779868511	257	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1006591910 CA217662726	258	Y>C		No	ClinGen Ensembl
rs758194425 CA5883593	258	Y>H		No	ClinGen ExAC gnomAD
CA5883591 rs765270056	259	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1458778983 CA379650965	260	K>E		No	ClinGen TOPMed
CA379650184 rs1390254942	270	N>H		No	ClinGen TOPMed
CA5883564 rs767085190	272	N>I		No	ClinGen ExAC gnomAD
TCGA novel	273	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	276	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5883562 rs773591780 CA5883563	277	M>I		No	ClinGen ExAC gnomAD
rs1330965663 CA379650114	277	M>T		No	ClinGen TOPMed
CA5883561 rs762279093	278	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1282234242 CA379650109	278	I>V		No	ClinGen gnomAD
CA5883559 rs117443264	279	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768769189 CA5883558	280	T>N		No	ClinGen ExAC gnomAD
rs747073252 CA5883557	285	E>G		No	ClinGen ExAC gnomAD
rs1351121269 CA379650064	285	E>K		No	ClinGen gnomAD
CA5883556 rs751820193	286	E>K		No	ClinGen ExAC gnomAD
CA5883555 rs142573261	286	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5883554 rs746141063	289	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	290	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1251525614 CA379650019	291	S>N		No	ClinGen TOPMed gnomAD
rs757182173 CA5883553	292	N>K		No	ClinGen ExAC TOPMed gnomAD
rs535742623 CA5883551	296	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1266120273 CA379649965	298	K>R		No	ClinGen gnomAD
rs147714545 CA379649845	304	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs147714545 CA5883548	304	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5883547 rs767152258	305	E>*		No	ClinGen ExAC gnomAD
rs1287416129 CA379649808	306	E>G		No	ClinGen gnomAD
CA379649817 rs1003761554	306	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1003761554 CA217662213	306	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	307	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754567175 CA5883546	309	S>N		No	ClinGen ExAC TOPMed gnomAD
CA379649733 rs1457007908	310	P>R		No	ClinGen gnomAD
rs1347591388 CA379649706	312	K>Q		No	ClinGen gnomAD
CA5883544 rs765583615	312	K>R		No	ClinGen ExAC
CA379649657 rs1457435979	314	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5883541 rs7948666 VAR_027765	315	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775409214 COSM2109480 CA5883539	316	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1191090779 COSM1350603 CA379649631	316	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA379649588 rs1249979003	319	E>K		No	ClinGen gnomAD
rs772231066 CA5883538	323	V>Q		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9Y5Y7

1 regional properties for Q9Y5Y7

Type	Name	Position	InterPro Accession
domain	Link domain	38 - 133	IPR000538

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein	Localized to the plasma membrane and in vesicles near extranuclear membranes which may represent trans-Golgi network (TGN) and endosomes/prelysosomeal compartments Undergoes ligand-dependent internalization and recycling at the cell surface Localizes at cell-cell junctions
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
cargo receptor activity	Binding specifically to a substance (cargo) to deliver it to a transport vesicle. Cargo receptors span a membrane (either the plasma membrane or a vesicle membrane), binding simultaneously to cargo molecules and coat adaptors, to efficiently recruit soluble proteins to nascent vesicles.
hyaluronic acid binding	Binding to hyaluronic acid, a polymer composed of repeating dimeric units of glucuronic acid and N-acetyl glucosamine.
signaling receptor activity	Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.
transmembrane signaling receptor activity	Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.

6 GO annotations of biological process

Name	Definition
anatomical structure morphogenesis	The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.
cell-matrix adhesion	The binding of a cell to the extracellular matrix via adhesion molecules.
hyaluronan catabolic process	The chemical reactions and pathways resulting in the breakdown of hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine.
positive regulation of cellular extravasation	Any process that activates or increases the frequency, rate, or extent of cellular extravasation.
receptor-mediated endocytosis	An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles.
response to wounding	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6UC88	LYVE1	Lymphatic vessel endothelial hyaluronic acid receptor 1	Bos taurus (Bovine)	PR
P98066	TNFAIP6	Tumor necrosis factor-inducible gene 6 protein	Homo sapiens (Human)	PR
Q8BHC0	Lyve1	Lymphatic vessel endothelial hyaluronic acid receptor 1	Mus musculus (Mouse)	PR
O08859	Tnfaip6	Tumor necrosis factor-inducible gene 6 protein	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MARCFSLVLL	LTSIWTTRLL	VQGSLRAEEL	SIQVSCRIMG	ITLVSKKANQ	QLNFTEAKEA
70	80	90	100	110	120
CRLLGLSLAG	KDQVETALKA	SFETCSYGWV	GDGFVVISRI	SPNPKCGKNG	VGVLIWKVPV
130	140	150	160	170	180
SRQFAAYCYN	SSDTWTNSCI	PEIITTKDPI	FNTQTATQTT	EFIVSDSTYS	VASPYSTIPA
190	200	210	220	230	240
PTTTPPAPAS	TSIPRRKKLI	CVTEVFMETS	TMSTETEPFV	ENKAAFKNEA	AGFGGVPTAL
250	260	270	280	290	300
LVLALLFFGA	AAGLGFCYVK	RYVKAFPFTN	KNQQKEMIET	KVVKEEKAND	SNPNEESKKT
310	320
DKNPEESKSP	SKTTVRCLEA	EV