AiPD: Autoinhibited Protein Database

Q8NBI5

Gene name	SLC43A3
Protein name	Equilibrative nucleobase transporter 1
Names	Protein FOAP-13, Solute carrier family 43 member 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29015
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

198-292 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

198-292 (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 Q8NBI5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NBI5-F1	Predicted				AlphaFoldDB

395 variants for Q8NBI5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1476621362	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749643960 CA6006310 COSM3397877	2	A>V	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA380557212 rs1413743572	3	G>C		No	ClinGen TOPMed
COSM1739849 rs751283350 CA6006307	3	G>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA380557199 rs1590715512	4	Q>P		No	ClinGen Ensembl
rs1180448523 CA380557182	5	G>A		No	ClinGen gnomAD
rs765812716 CA6006305	5	G>S		No	ClinGen ExAC gnomAD
rs531795219 CA6006302	7	P>H		No	ClinGen 1000Genomes ExAC gnomAD
CA6006303 rs750326411	7	P>S		No	ClinGen ExAC gnomAD
rs914755183 CA222726465	8	L>P		No	ClinGen Ensembl
rs761852001 CA6006300	9	H>L		No	ClinGen ExAC gnomAD
CA380556934 rs760973618	26	V>F		No	ClinGen ExAC TOPMed gnomAD
rs760973618 CA6006297	26	V>I		No	ClinGen ExAC TOPMed gnomAD
rs760973618 CA380556936	26	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6006295 rs775859389	28	F>Y		No	ClinGen ExAC
TCGA novel	29	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380556897 rs1384887197	29	G>R		No	ClinGen TOPMed
rs1289937594 CA380556864	32	S>A		No	ClinGen TOPMed
rs772132833 CA6006293	35	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1267723597 CA380556818	38	K>N		No	ClinGen TOPMed
rs1466151141 COSM1561339 CA380556823	38	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1355627218 COSM928612 CA380556809	39	N>S	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA222726409 rs561405185	40	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745952830 CA6006292	40	E>K		No	ClinGen ExAC gnomAD
COSM928611 TCGA novel CA6006290 rs771308616	42	Y>*	endometrium Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC gnomAD NCI-TCGA
rs1239319096 CA380556728	44	K>N		No	ClinGen TOPMed gnomAD
rs923482060 CA222726380	49	P>R		No	ClinGen Ensembl
rs778109041 CA6006288	49	P>T		No	ClinGen ExAC gnomAD
rs1440902602 CA380556632	51	A>V		No	ClinGen gnomAD
VAR_035156 CA6006286 rs34799622	53	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6006287 rs34799622	53	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749871451 CA6006283	56	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6006282 rs764852302	57	A>V		No	ClinGen ExAC gnomAD
rs753892025 CA6006280	59	G>R		No	ClinGen ExAC gnomAD
TCGA novel	59	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6006278 rs541285231	60	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA6006276 rs767661306	61	A>P		No	ClinGen ExAC gnomAD
COSM223464 rs767661306 CA6006277	61	A>T	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs759661882 CA6006254	62	D>G		No	ClinGen ExAC TOPMed gnomAD
CA6006255 rs759661882	62	D>V		No	ClinGen ExAC TOPMed gnomAD
CA6006253 rs751813933	64	K>E		No	ClinGen ExAC gnomAD
CA6006252 rs766315125	65	A>G		No	ClinGen ExAC gnomAD
CA380556125 rs1450195758	66	Q>R		No	ClinGen gnomAD
CA222725982 rs951426625	71	S>L		No	ClinGen TOPMed
rs1288859385 CA380556006	73	I>V		No	ClinGen gnomAD
rs1590714406 CA380555953	76	L>P		No	ClinGen Ensembl
CA222725971 rs924657731	76	L>V		No	ClinGen TOPMed
CA380555931 rs550385250	78	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6006246 rs769133329	78	S>F		No	ClinGen ExAC gnomAD
TCGA novel rs550385250 CA6006247	78	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA
CA6006245 rs745443467	80	M>T		No	ClinGen ExAC TOPMed gnomAD
CA380555848 rs1415593613	82	N>K		No	ClinGen Ensembl
rs778637457 CA6006243	83	F>I		No	ClinGen ExAC
CA6006242 rs770512524	85	T>K		No	ClinGen ExAC gnomAD
CA380555761 rs1331104469	87	P>L		No	ClinGen gnomAD
CA380555769 rs1434929743	87	P>T		No	ClinGen gnomAD
rs1304099372 CA380555725	90	Y>C		No	ClinGen gnomAD
rs1304099372 CA380555723	90	Y>F		No	ClinGen gnomAD
rs200802164 CA6006241	91	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA380555692 rs1565103698	92	F>Y		No	ClinGen Ensembl
rs375844954 COSM1354775 CA6006239	94	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs201283478 CA6006240	94	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	95	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780786415 CA380555620	96	K>M		No	ClinGen ExAC gnomAD
rs1215633597 CA380555617	96	K>N		No	ClinGen gnomAD
CA6006237 rs780786415	96	K>R		No	ClinGen ExAC gnomAD
rs754817482 CA6006236	97	T>S		No	ClinGen ExAC
rs766655468 CA6006234	99	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1277536756 CA380555570	100	A>S		No	ClinGen TOPMed
rs140882001 COSM192567 CA6006232	101	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs371491685 COSM3687392 CA6006231	101	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6006233 rs140882001	101	R>S		No	ClinGen ESP ExAC gnomAD
rs749135982 CA6006230	102	L>F		No	ClinGen ExAC gnomAD
rs1210086020 CA380555529	103	I>L		No	ClinGen TOPMed
rs777198117 CA6006229	104	A>P		No	ClinGen ExAC gnomAD
CA380555490 rs1307506893	105	I>T		No	ClinGen TOPMed gnomAD
rs527797822 CA6006228	105	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA380554431 rs747979107	106	F>I		No	ClinGen ExAC gnomAD
CA6006219 rs747979107	106	F>V		No	ClinGen ExAC gnomAD
rs1234303375 CA380554342	109	T>A		No	ClinGen gnomAD
CA380554345 rs1234303375	109	T>P		No	ClinGen gnomAD
CA222724577 rs200040763	110	T>P		No	ClinGen Ensembl
CA380554298 rs1441370644	111	A>D		No	ClinGen gnomAD
rs375906198 CA6006217 COSM284235	111	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed
rs746788213 CA6006216	112	T>A		No	ClinGen ExAC gnomAD
rs368739448 CA6006213	115	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6006214 rs202087139	115	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6006212 rs757368612	118	T>N		No	ClinGen ExAC TOPMed gnomAD
CA6006211 rs757368612	118	T>S		No	ClinGen ExAC TOPMed gnomAD
rs62623667 CA6006188	121	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs62623667 CA380553856	121	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6006186 rs760002933	122	S>L		No	ClinGen ExAC gnomAD
TCGA novel	123	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373402540 CA6006184	124	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1360411674 CA380553793	126	L>P		No	ClinGen gnomAD
rs138731232 CA6006182	129	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs138731232 CA6006181	129	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1426547213 CA380553675	131	P>Q		No	ClinGen gnomAD
CA380553650 rs1294701670	132	M>I		No	ClinGen TOPMed gnomAD
CA6006180 rs150085107	132	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs771802784 CA6006178	132	M>R		No	ClinGen ExAC TOPMed gnomAD
CA6006179 rs150085107	132	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs200223459 CA222723160	134	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200223459 CA6006176	134	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6006173 rs375121642	135	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6006174 rs749531115	135	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	138	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390090666 CA380553442	142	I>F		No	ClinGen Ensembl
rs200944906 CA222723141	143	T>I		No	ClinGen gnomAD
rs781772697 CA6006170	144	N>S		No	ClinGen ExAC gnomAD
rs550758492 CA6006169	146	Q>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1469964375 CA380553213	148	G>R		No	ClinGen gnomAD
CA6006140 rs542036709	152	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380553093 rs542036709	152	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6006139 rs762689876	155	R>C		No	ClinGen ExAC gnomAD
rs148055054 CA6006138	155	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6006137 rs770119818	156	S>L		No	ClinGen ExAC gnomAD
rs756097995 CA6006133	158	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	160	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6006132 rs780451280	161	L>V		No	ClinGen ExAC gnomAD
CA380552835 rs1380212108	162	Y>C		No	ClinGen gnomAD
CA380552809 rs1313699703	163	N>D		No	ClinGen gnomAD
CA6006131 rs758747422	163	N>S		No	ClinGen ExAC TOPMed gnomAD
rs758747422 CA380552802	163	N>T		No	ClinGen ExAC TOPMed gnomAD
CA222722929 rs1003547145	164	G>R		No	ClinGen Ensembl
CA380552688 rs1316877617	169	S>F		No	ClinGen gnomAD
rs143621555 CA6006129	170	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA222722918 rs948558278	171	A>S		No	ClinGen Ensembl
CA6006126 rs766946784	171	A>V		No	ClinGen ExAC gnomAD
CA380552653 rs1334913828	172	V>D		No	ClinGen TOPMed
rs1251080882 CA380552602	175	I>V		No	ClinGen gnomAD
CA380552566 rs1441810527	176	I>V		No	ClinGen TOPMed
rs1277949376 CA380552538	177	K>*		No	ClinGen TOPMed
CA6006125 rs754496470	177	K>R		No	ClinGen ExAC TOPMed gnomAD
CA380552534 rs754496470	177	K>T		No	ClinGen ExAC TOPMed gnomAD
rs377711706 CA6006104	179	L>F		No	ClinGen ESP ExAC gnomAD
CA380550327 rs377711706	179	L>I		No	ClinGen ESP ExAC gnomAD
CA380550266 rs1353019116	180	Y>*		No	ClinGen gnomAD
rs1034911974 CA222720999	180	Y>H		No	ClinGen TOPMed gnomAD
CA222720993 rs959346310	183	G>D		No	ClinGen TOPMed gnomAD
rs994576617 CA222720997	183	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1349402531 CA380550150	184	I>T		No	ClinGen TOPMed
rs761726078 CA6006101	184	I>V		No	ClinGen ExAC gnomAD
rs1479298681 CA380550134	185	S>G		No	ClinGen gnomAD
rs754076982 CA6006100	185	S>N		No	ClinGen ExAC gnomAD
CA380550072 rs1199963355	188	A>T		No	ClinGen gnomAD
rs1403125516 CA380550056	188	A>V		No	ClinGen TOPMed
rs761003780 CA6006099	189	S>C		No	ClinGen ExAC TOPMed gnomAD
rs761003780 CA6006098	189	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	190	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380549961 rs1230868765	192	F>L		No	ClinGen gnomAD
CA380549954 rs1409739267	193	I>L		No	ClinGen TOPMed
TCGA novel	195	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278162846 CA380549879	196	C>F		No	ClinGen TOPMed
TCGA novel	199	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172891611 CA380549831	199	W>R		No	ClinGen gnomAD
rs772257393 CA6006096	200	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA6006097 rs775415297	200	H>R		No	ClinGen ExAC TOPMed gnomAD
rs748743303 CA222720960	201	V>A		No	ClinGen gnomAD
rs538425435 CA6006095	201	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380549779 rs1222209233	202	A>T		No	ClinGen gnomAD
rs201915801 COSM258673 CA6006094	203	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM192563 rs188327992 CA6006092	203	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6006093 rs188327992	203	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380549762 rs1565098950	205	F>V		No	ClinGen Ensembl
rs1482720026 CA380549754	206	L>F		No	ClinGen TOPMed
CA6006091 rs778161972	209	P>L		No	ClinGen ExAC gnomAD
rs768183160 CA380549721	210	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6006089 rs140423544	210	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6006090 rs768183160	210	R>W		No	ClinGen ExAC TOPMed gnomAD
rs142942816 CA6006087	212	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6006085 rs750283837	217	L>P		No	ClinGen ExAC TOPMed gnomAD
rs146718073 CA6006084	218	P>S		No	ClinGen ESP ExAC
CA6006081 rs201681816	219	P>L		No	ClinGen ExAC gnomAD
rs201681816 CA6006082	219	P>R		No	ClinGen ExAC gnomAD
rs372592462 CA6006083	219	P>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs760799325 CA6006080	220	N>D		No	ClinGen ExAC TOPMed
rs1342664469 CA380549560	220	N>S		No	ClinGen TOPMed
rs1429684601	220	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1176270164 CA380549539	221	Y>C		No	ClinGen TOPMed gnomAD
CA6006079 rs752964350	222	S>R		No	ClinGen ExAC gnomAD
TCGA novel	224	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	225	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6006060 rs371678588	226	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6006059 rs755193769	230	G>D		No	ClinGen ExAC gnomAD
CA6006058 rs201262142	231	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1288045319 CA380549326	232	T>A		No	ClinGen gnomAD
CA222720629 rs1013158994	232	T>I		No	ClinGen TOPMed
rs766515176 CA380549311	234	E>A		No	ClinGen ExAC TOPMed gnomAD
CA6006057 rs766515176	234	E>G		No	ClinGen ExAC TOPMed gnomAD
CA380549306 rs1278377408	235	E>Q		No	ClinGen gnomAD
CA6006056 rs763383663	236	K>T		No	ClinGen ExAC TOPMed gnomAD
CA6006055 rs773722646	239	A>S		No	ClinGen ExAC
CA380549227 rs1385303259	245	E>D		No	ClinGen gnomAD
rs765474260 CA6006053	247	Q>R		No	ClinGen ExAC gnomAD
CA222720607 rs1054794928	249	K>E		No	ClinGen TOPMed gnomAD
CA6006052 rs762274344	250	E>Q		No	ClinGen ExAC gnomAD
rs762938193 CA380549171	254	A>G		No	ClinGen ExAC TOPMed gnomAD
rs762938193 CA6006049	254	A>V		No	ClinGen ExAC TOPMed gnomAD
rs770567500 CA6006047	257	E>Q		No	ClinGen ExAC gnomAD
CA222723154 rs868862302	259	P>T		No	ClinGen Ensembl
rs768402677 CA6006005	261	A>S		No	ClinGen ExAC gnomAD
rs1190708147 CA380566245	264	K>R		No	ClinGen gnomAD
rs1470953096 CA380566222	267	L>P		No	ClinGen TOPMed
CA6006004 rs746778375	267	L>V		No	ClinGen ExAC TOPMed gnomAD
rs541473220 CA6006003	268	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6006001 rs766596033	268	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6006002 rs766596033	268	R>L		No	ClinGen ExAC TOPMed gnomAD
CA380566212 rs1489756922	269	S>F		No	ClinGen gnomAD
CA380566211 rs1590689498	270	F>L		No	ClinGen Ensembl
CA6005999 rs141277946	272	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6005998 rs145287776	272	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756343234 CA380566183	273	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs200057945 CA222723132	273	Y>D		No	ClinGen Ensembl
CA380566179 rs1227068769	274	A>S		No	ClinGen gnomAD
CA380566181 rs1227068769	274	A>T		No	ClinGen gnomAD
CA222723126 rs995667185	275	F>C		No	ClinGen gnomAD
CA6005996 rs756724788	276	S>C		No	ClinGen ExAC TOPMed gnomAD
rs149977311 CA380566163	277	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139270446 CA380566162	277	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6005994 rs139270446	277	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6005993 COSM928609 rs139270446	277	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs149977311 CA6005995	277	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151251549 CA6005992 COSM688400	278	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs372301143 CA6005991	278	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1011533692 CA380566120	284	V>L		No	ClinGen TOPMed gnomAD
rs1011533692 CA222723114	284	V>M		No	ClinGen TOPMed gnomAD
CA222723109 rs957282571	285	W>R		No	ClinGen TOPMed
CA380566108 rs1209683512	286	L>M		No	ClinGen TOPMed
rs750684660 CA6005990	287	S>A		No	ClinGen ExAC TOPMed gnomAD
rs750684660 CA222723108	287	S>T		No	ClinGen ExAC TOPMed gnomAD
rs375364109 CA6005989	289	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA222723105 rs7111280	292	W>R		No	ClinGen Ensembl
CA6005988 rs768560650	294	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA380566053 rs768560650	294	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA380566047 rs1271435553	295	L>F		No	ClinGen gnomAD
rs771855748 CA6005985	297	I>M		No	ClinGen ExAC TOPMed gnomAD
rs370432234 CA6005986	297	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6005984 rs746041439	298	G>D		No	ClinGen ExAC gnomAD
rs201923697 CA6005983	300	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1385849636 CA380566001	302	S>F		No	ClinGen TOPMed
CA380566005 rs1275667577	302	S>P		No	ClinGen TOPMed gnomAD
rs1438628500 CA380565993	304	L>M		No	ClinGen TOPMed gnomAD
CA380565979 rs1352824454	306	N>S		No	ClinGen gnomAD
CA6005981 rs376068276	307	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA380565961 rs1398309411	308	A>V		No	ClinGen TOPMed
rs748731432 CA6005978	309	G>D		No	ClinGen ExAC gnomAD
CA6005979 rs756675641	309	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA380565938 rs1444743847	312	M>T		No	ClinGen TOPMed
rs755320594 CA6005975	313	A>S		No	ClinGen ExAC gnomAD
CA6005974 rs750054605	314	R>*		No	ClinGen ExAC TOPMed gnomAD
rs199748543 CA6005973	314	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380565909 rs1283858336	315	V>G		No	ClinGen gnomAD
rs756985709 CA6005972	315	V>I		No	ClinGen ExAC TOPMed gnomAD
rs747316550 CA6005956	316	S>N		No	ClinGen ExAC gnomAD
rs780529332 CA222722971	317	T>I		No	ClinGen ExAC TOPMed gnomAD
rs780529332 CA6005955	317	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1450354878 CA380565874	321	A>T		No	ClinGen TOPMed gnomAD
CA380565845 rs1303190158	325	T>A		No	ClinGen gnomAD
CA380565835 rs1449981556	326	Q>H		No	ClinGen gnomAD
rs542073476 CA6005953	326	Q>L		No	ClinGen 1000Genomes ExAC TOPMed
rs141024414 CA6005952	327	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6005950 rs752588393 COSM1354773	328	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA380565820 rs1419991098	329	V>L		No	ClinGen gnomAD
CA380565770 rs1423717194	336	G>V		No	ClinGen gnomAD
TCGA novel	338	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490793919 CA380565759	338	L>H		No	ClinGen TOPMed
TCGA novel	339	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1262677939 CA380565754	339	M>V		No	ClinGen gnomAD
rs541432684 CA6005946	341	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA6005947 rs147287918	341	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380565734 rs1590688201	342	L>F		No	ClinGen Ensembl
rs186807194 CA6005945	344	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1245400684 CA380565715	345	K>*		No	ClinGen gnomAD
CA380565681 rs769955380	348	K>N		No	ClinGen ExAC gnomAD
rs773590399 CA6005944	348	K>R		No	ClinGen ExAC gnomAD
CA6005942 rs761955034	349	E>A		No	ClinGen ExAC gnomAD
CA380565679 rs1229761036	349	E>K		No	ClinGen gnomAD
CA6005941 rs776823539	351	R>I		No	ClinGen ExAC TOPMed gnomAD
CA380565633 rs1362114865	352	K>N		No	ClinGen TOPMed gnomAD
rs1400194352 CA380565637	352	K>R		No	ClinGen gnomAD
rs776083147 CA380564760	354	G>D		No	ClinGen ExAC gnomAD
CA6005920 rs776083147	354	G>V		No	ClinGen ExAC gnomAD
CA380564730 rs1175605046	356	S>A		No	ClinGen gnomAD
rs1456345637 CA380564721	356	S>F		No	ClinGen gnomAD
CA380564708 rs369155747	357	T>I		No	ClinGen ESP TOPMed gnomAD
CA380564702 rs369155747	357	T>N		No	ClinGen ESP TOPMed gnomAD
CA222721369 rs369155747	357	T>S		No	ClinGen ESP TOPMed gnomAD
rs1198965968 CA380564685	358	L>F		No	ClinGen gnomAD
rs1172405432 CA380564689	358	L>S		No	ClinGen TOPMed
CA6005918 rs77057293	359	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6005916 rs769420949	360	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6005915 rs747862313	362	L>R		No	ClinGen ExAC TOPMed gnomAD
CA380564615 rs1389202329	363	C>Y		No	ClinGen gnomAD
CA380564590 rs1376760859	364	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1376760859 CA380564595	364	S>W		No	ClinGen gnomAD
CA6005914 rs780500484	365	T>M		No	ClinGen ExAC TOPMed gnomAD
rs188162068 CA6005912	366	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA6005910 COSM1704018 rs758460093	368	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1048876928 CA222721329	371	L>P		No	ClinGen TOPMed
rs1237428074 CA380564471	372	T>I		No	ClinGen gnomAD
rs1237428074 CA380564472	372	T>R		No	ClinGen gnomAD
rs1272060009 CA380564454	373	S>F		No	ClinGen TOPMed
rs754108621 CA6005906	374	L>V		No	ClinGen ExAC gnomAD
CA6005904 rs775468779	377	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6005903 rs775468779	377	L>R		No	ClinGen ExAC gnomAD
rs137870474 CA380564307	380	A>P		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs137870474 CA6005901	380	A>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs774692360 COSM3980431 CA6005900	380	A>V	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA222721301 rs980606526	381	L>V		No	ClinGen gnomAD
CA222721297 rs112726352	382	C>R		No	ClinGen Ensembl
COSM3809576 rs944208057 CA222721294	384	S>L	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA6005897 rs776377219	386	P>L		No	ClinGen ExAC gnomAD
rs747698102 CA6005898	386	P>S		No	ClinGen ExAC gnomAD
rs768234249 CA380564143	387	I>M		No	ClinGen ExAC gnomAD
rs746507961 CA6005895	388	L>F		No	ClinGen ExAC gnomAD
CA380564127 rs1381000407	389	P>R		No	ClinGen gnomAD
rs758408697 CA6005893	392	Y>*		No	ClinGen ExAC gnomAD
rs1311510266 CA380564084	392	Y>N		No	ClinGen gnomAD
rs1590674542 CA380564081	392	Y>S		No	ClinGen Ensembl
rs145391074 CA6005892	393	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1366672898 CA380564062	393	L>P		No	ClinGen gnomAD
CA380564054 rs1590674505	394	T>P		No	ClinGen Ensembl
CA380563997 rs1213996930	399	V>M		No	ClinGen gnomAD
CA6005889 rs150725321	402	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs764342644 CA6005888	402	R>H		No	ClinGen ExAC gnomAD
CA6005887 rs756337248	403	S>A		No	ClinGen ExAC TOPMed gnomAD
CA380563809 rs1418034783	408	S>R		No	ClinGen TOPMed gnomAD
CA6005885 rs749931054	410	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6005884 rs749931054	410	A>T		No	ClinGen ExAC TOPMed gnomAD
rs376679763 CA6005883	410	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs773498932 CA6005880	411	A>V		No	ClinGen ExAC TOPMed gnomAD
CA380563756 rs1300066885	412	F>L		No	ClinGen gnomAD
CA222721248 rs888904916	413	L>F		No	ClinGen TOPMed gnomAD
rs746707709 CA6005878	416	A>V		No	ClinGen ExAC gnomAD
rs749254089 CA6005854	418	P>S		No	ClinGen ExAC TOPMed gnomAD
rs769491369 CA6005852	419	S>*		No	ClinGen ExAC gnomAD
rs781424633 CA380563464	421	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs755242132 CA6005849	422	F>L		No	ClinGen ExAC
rs780063036 CA6005846	422	F>L		No	ClinGen ExAC TOPMed gnomAD
rs758870554 CA6005845	424	K>Q		No	ClinGen ExAC
CA6005843 rs202193567	424	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs765584516 CA6005842	425	L>F		No	ClinGen ExAC TOPMed gnomAD
rs187399098 CA6005840	429	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs187399098 CA380563352	429	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6005838 rs759323526	430	M>T		No	ClinGen ExAC gnomAD
rs773996402 CA6005837	431	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1240382781 CA380563257	433	S>L		No	ClinGen gnomAD
rs951270660 CA222721018	435	V>G		No	ClinGen Ensembl
rs773046546 CA6005834	436	V>G		No	ClinGen ExAC gnomAD
CA222721016 rs1036587497 CA380563212	436	V>L		No	ClinGen TOPMed
rs138765536 CA6005833	439	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1475294351 CA380563139	440	Q>R		No	ClinGen TOPMed gnomAD
CA6005832 rs747916405	441	F>L		No	ClinGen ExAC gnomAD
rs1416737642 CA380563098	442	P>R		No	ClinGen gnomAD
CA380563094 rs1239296679	443	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781022603 CA6005831	444	F>V		No	ClinGen ExAC gnomAD
rs1445585373 CA380563006	449	G>V		No	ClinGen gnomAD
rs200096700 CA6005829	450	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1425529620 CA380562957	453	N>S		No	ClinGen TOPMed
CA6005827 rs758427634	454	D>G		No	ClinGen ExAC gnomAD
rs780120974 CA6005828	454	D>Y		No	ClinGen ExAC gnomAD
CA380562934 rs1165369748	455	P>T		No	ClinGen TOPMed
CA380562899 rs760383396	457	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs751185638 CA6005803	461	M>I		No	ClinGen ExAC gnomAD
CA6005804 rs756571206	461	M>T		No	ClinGen ExAC gnomAD
CA6005805 rs371035531	461	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA380562295 rs1400284371	462	F>L		No	ClinGen gnomAD
rs765916173 CA6005802	463	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1417543922 CA380562271	464	L>P		No	ClinGen TOPMed
COSM1604763 CA380562254 rs1481421012	466	I>V	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA380562211 rs1457823143	469	T>I		No	ClinGen gnomAD
TCGA novel	470	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350996158 CA380562171	472	H>R		No	ClinGen TOPMed gnomAD
CA380562155 rs1429144708	473	P>L		No	ClinGen TOPMed
rs144769578 CA6005800	474	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs955839442 CA222720797	476	V>A		No	ClinGen Ensembl
CA6005798 rs764729526	476	V>I		No	ClinGen ExAC TOPMed gnomAD
CA380562122 rs764729526	476	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6005797 rs761677980	477	Y>C		No	ClinGen ExAC gnomAD
rs1488090565 CA380562100	478	R>Q		No	ClinGen TOPMed gnomAD
CA222720794 rs866852555	478	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs779826110 CA222720793	479	E>D		No	ClinGen Ensembl
rs186165874 CA6005796	481	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141037487 CA6005795	481	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1315817207 CA380562035	483	W>*		No	ClinGen gnomAD
rs181840070 CA380562024	484	K>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6005794 rs181840070	484	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA222720789 rs1031468988	485	E>*		No	ClinGen Ensembl
CA6005793 rs377484201	485	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA380561995 rs1284752021	486	S>G		No	ClinGen TOPMed
rs772175170 CA6005792	486	S>N		No	ClinGen ExAC gnomAD
rs971324552 CA222720787	489	A>T		No	ClinGen TOPMed
rs746172729 CA6005791 COSM1628077	489	A>V	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs112826917 CA6005790	490	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with Q8NBI5

No regional properties for Q8NBI5

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8NBI5

Functions

		Description
EC Number
Subcellular Localization	Basolateral cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
integral component of membrane	The component of a 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.

4 GO annotations of molecular function

Name	Definition
adenine transmembrane transporter activity	Enables the transfer of adenine, 6-aminopurine, from one side of a membrane to the other.
fatty acid transmembrane transporter activity	Enables the transfer of fatty acids from one side of a membrane to the other. Fatty acids are aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis.
guanine transmembrane transporter activity	Enables the transfer of guanine, 2-amino-6-hydroxypurine, from one side of a membrane to the other.
xenobiotic transmembrane transporter activity	Enables the directed movement of a xenobiotic from one side of a membrane to the other. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

1 GO annotations of biological process

Name	Definition
hypoxanthine transport	The directed movement of hypoxanthine, 6-hydroxypurine, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8CGA3	Slc43a2	Large neutral amino acids transporter small subunit 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAGQGLPLHV	ATLLTGLLEC	LGFAGVLFGW	PSLVFVFKNE	DYFKDLCGPD	AGPIGNATGQ
70	80	90	100	110	120
ADCKAQDERF	SLIFTLGSFM	NNFMTFPTGY	IFDRFKTTVA	RLIAIFFYTT	ATLIIAFTSA
130	140	150	160	170	180
GSAVLLFLAM	PMLTIGGILF	LITNLQIGNL	FGQHRSTIIT	LYNGAFDSSS	AVFLIIKLLY
190	200	210	220	230	240
EKGISLRASF	IFISVCSTWH	VARTFLLMPR	GHIPYPLPPN	YSYGLCPGNG	TTKEEKETAE
250	260	270	280	290	300
HENRELQSKE	FLSAKEETPG	AGQKQELRSF	WSYAFSRRFA	WHLVWLSVIQ	LWHYLFIGTL
310	320	330	340	350	360
NSLLTNMAGG	DMARVSTYTN	AFAFTQFGVL	CAPWNGLLMD	RLKQKYQKEA	RKTGSSTLAV
370	380	390	400	410	420
ALCSTVPSLA	LTSLLCLGFA	LCASVPILPL	QYLTFILQVI	SRSFLYGSNA	AFLTLAFPSE
430	440	450	460	470	480
HFGKLFGLVM	ALSAVVSLLQ	FPIFTLIKGS	LQNDPFYVNV	MFMLAILLTF	FHPFLVYREC
490
RTWKESPSAI	A