AiPD: Autoinhibited Protein Database

O00481

Gene name	BTN3A1 (BTF5)
Protein name	Butyrophilin subfamily 3 member A1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11119
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

276-352 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

276-352 (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

23 structures for O00481

Entry ID	Method	Resolution	Chain	Position	Source
4F80	X-ray	194 A	A	30-246	PDB
4F9L	X-ray	314 A	A/B	30-246	PDB
4F9P	X-ray	352 A	A/B	30-246	PDB
4JKW	X-ray	201 A	A	28-143	PDB
4K55	X-ray	191 A	A	28-143	PDB
4N7I	X-ray	140 A	A	328-513	PDB
4N7U	X-ray	146 A	A	328-513	PDB
4V1P	X-ray	204 A	A	325-512	PDB
5HM7	X-ray	193 A	A/B	272-513	PDB
5LYG	X-ray	160 A	A	327-513	PDB
5LYK	X-ray	170 A	A	327-513	PDB
5ZXK	X-ray	196 A	A	328-513	PDB
6ISM	X-ray	125 A	A	328-513	PDB
6ITA	X-ray	120 A	A	328-513	PDB
6J06	X-ray	265 A	A/B/C	328-513	PDB
6XLQ	X-ray	300 A	A/D/G/J	30-255	PDB
8DFX	X-ray	555 A	B	30-246	PDB
8IXV	X-ray	172 A	A	328-513	PDB
8IZE	X-ray	140 A	A	328-513	PDB
8IZG	X-ray	160 A	A	328-513	PDB
8JYC	X-ray	229 A	C/D	328-513	PDB
8JYE	X-ray	218 A	C/D	328-513	PDB
AF-O00481-F1	Predicted				AlphaFoldDB

424 variants for O00481

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA363229375 rs1581622953	5	S>T		No	ClinGen Ensembl
TCGA novel	7	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3672751 rs55676749	9	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs540333878 CA136306774	12	L>F		No	ClinGen gnomAD
CA363229450 rs1264673109	12	L>P		No	ClinGen TOPMed
rs766105293 CA3672752	13	N>H		No	ClinGen ExAC gnomAD
CA3672754 rs753390954	13	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3672753 rs753390954	13	N>T		No	ClinGen ExAC TOPMed gnomAD
CA3672756 COSM1076778 rs374921833 COSM1154633	15	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
VAR_061305 rs56161420 CA3672757	15	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs56161420 CA3672758	15	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374921833 CA3672755	15	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746846979 CA3672759	16	V>I		No	ClinGen ExAC gnomAD
CA3672760 rs770798335	17	C>S		No	ClinGen ExAC gnomAD
rs1341107122 CA363229505	17	C>W		No	ClinGen gnomAD
rs1202748758 CA363229507	18	L>F		No	ClinGen gnomAD
rs746012673 CA3672762	22	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA363229556 rs1254019114	24	L>F		No	ClinGen gnomAD
rs1422071872 CA363229568	25	M>V		No	ClinGen gnomAD
rs1386088852 CA363229593	27	H>Y		No	ClinGen gnomAD
rs769935296 CA3672764	28	S>*		No	ClinGen ExAC TOPMed gnomAD
CA363229612 rs769935296	28	S>L		No	ClinGen ExAC TOPMed gnomAD
rs904782252 CA136306832	29	A>T		No	ClinGen TOPMed gnomAD
CA3672789 rs773515134	31	F>L		No	ClinGen ExAC gnomAD
rs761066899 CA3672790	32	S>F		No	ClinGen ExAC TOPMed gnomAD
rs764843210 CA3672791	34	L>V		No	ClinGen ExAC
CA363229724 rs1267452323	37	S>P		No	ClinGen gnomAD
CA363229728 rs1206909982	38	G>R		No	ClinGen gnomAD
CA363229740 rs1481180634	40	I>L		No	ClinGen TOPMed
rs936292956 CA363229746	40	I>M		No	ClinGen gnomAD
rs1431908921 CA363229748	41	L>V		No	ClinGen TOPMed
rs1190958897 CA363229763	43	M>I		No	ClinGen gnomAD
rs763634366 CA363229759	43	M>L		No	ClinGen ExAC gnomAD
rs763634366 CA3672794	43	M>V		No	ClinGen ExAC gnomAD
CA363229779 rs564000550	46	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3672795 rs564000550	46	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377117570 CA3672797	48	A>T		No	ClinGen ESP ExAC gnomAD
rs750226632 CA3672798	48	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3672799 rs139011114	51	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1457136522 CA363229827	53	H>R		No	ClinGen gnomAD
rs1291462800 CA363229837	55	F>L		No	ClinGen gnomAD
CA136307144 rs998206119	56	P>A		No	ClinGen Ensembl
rs780278847 COSM228072 CA3672800	56	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs755062420 CA3672802	63	M>T		No	ClinGen ExAC gnomAD
CA3672803 rs779020584	64	E>G		No	ClinGen ExAC TOPMed gnomAD
rs748253847 CA363229906	65	L>M		No	ClinGen ExAC TOPMed gnomAD
CA3672806 rs149895116	66	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1221053668 CA363229921	67	W>*		No	ClinGen gnomAD
TCGA novel	69	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3672808 rs771284361	74	Q>H		No	ClinGen ExAC gnomAD
CA363229980 rs1234005698	76	V>M		No	ClinGen gnomAD
rs199781860 CA3672810	78	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1183686764 CA363230007	80	A>T		No	ClinGen gnomAD
CA3672811 rs763829130	82	G>R		No	ClinGen ExAC TOPMed gnomAD
CA136307242 rs1026663094	85	V>L		No	ClinGen Ensembl
CA363230062 rs1162192610	87	D>E		No	ClinGen TOPMed gnomAD
CA363230060 rs1470769159	87	D>G		No	ClinGen TOPMed
CA3672813 rs150905778	90	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA363230085 rs150905778	90	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3672814 rs767404028	91	A>T		No	ClinGen ExAC TOPMed gnomAD
rs549341227 CA3672815	92	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3672816 rs755894627	92	P>L		No	ClinGen ExAC gnomAD
rs753615560 CA3672818	93	Y>C		No	ClinGen ExAC gnomAD
CA363230126 rs1374083463	94	R>*		No	ClinGen gnomAD
CA3672819 rs755260389	94	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779075658 CA3672820	97	T>P		No	ClinGen ExAC gnomAD
CA363230174 rs748221919	98	S>*		No	ClinGen ExAC TOPMed gnomAD
CA3672821 rs748221919	98	S>L		No	ClinGen ExAC TOPMed gnomAD
CA136307320 rs969820507	98	S>P		No	ClinGen Ensembl
CA363230176 rs748221919	98	S>W		No	ClinGen ExAC TOPMed gnomAD
rs926171888 CA136307342	101	R>W		No	ClinGen TOPMed gnomAD
CA363230217 rs1233981322	102	D>G		No	ClinGen gnomAD
CA3672824 rs201217877	104	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778170905 CA3672823	104	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1444917992 CA363230309	110	A>S		No	ClinGen gnomAD
CA363230323 rs1358593797	111	L>F		No	ClinGen TOPMed
rs376221996 CA3672826	112	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3672827 rs746233858	112	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1374245336 CA363230345	113	I>M		No	ClinGen TOPMed
rs768468170 CA3672828	113	I>V		No	ClinGen ExAC gnomAD
rs1329386502	115	N>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1362926379 CA363230362	115	N>D		No	ClinGen gnomAD
rs2393650 CA3672830	115	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1297244230 CA363230368	115	N>S		No	ClinGen TOPMed
CA363230392 rs1447380495	117	T>A		No	ClinGen gnomAD
rs1355489360 CA363230459	122	G>A		No	ClinGen TOPMed
rs1389806597 CA363230505	126	C>G		No	ClinGen gnomAD
TCGA novel	126	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363230544 rs1461205077	128	F>S		No	ClinGen TOPMed gnomAD
TCGA novel	130	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3672832 rs773029993	134	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA363230703 rs1340410893	141	L>M		No	ClinGen gnomAD
CA136308273 rs996134212	149	D>G		No	ClinGen Ensembl
rs900071015 CA136308268	149	D>N		No	ClinGen Ensembl
CA363231482 rs147375005	151	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1561845190 CA363231499	152	V>G		No	ClinGen Ensembl
rs117508907 CA3672847	152	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1265570779 CA363231509	153	D>V		No	ClinGen gnomAD
CA3672848 rs771608988	153	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA363231532 rs1459506946	154	V>A		No	ClinGen TOPMed
rs1323544082 CA363231561	156	G>S		No	ClinGen gnomAD
CA136308306 rs538727485	159	D>G		No	ClinGen 1000Genomes
rs147150065 CA3672849	160	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs376863801 CA136308321	162	I>T		No	ClinGen ESP
rs1209989396 CA363231679	162	I>V		No	ClinGen gnomAD
CA3672852 rs776498634	164	L>P		No	ClinGen ExAC gnomAD
rs557579831 CA3672851	164	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs571412787 CA3672853	167	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363231768 rs1480097077	167	R>T		No	ClinGen TOPMed
rs1267929623 CA363231781	168	S>P		No	ClinGen TOPMed
rs1201438027 CA363231836	171	W>L		No	ClinGen TOPMed gnomAD
CA363231860 rs1025008914	172	Y>*		No	ClinGen TOPMed
CA363231855 rs1484597711	172	Y>C		No	ClinGen TOPMed
CA3672854 rs764942378	172	Y>D		No	ClinGen ExAC gnomAD
CA3672855 rs764942378	172	Y>H		No	ClinGen ExAC gnomAD
rs533940581 CA3672856	173	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3672857 rs764220613	174	Q>P		No	ClinGen ExAC
CA363231935 rs1581626260	176	Q>P		No	ClinGen Ensembl
rs1158598624 CA363231998	179	W>C		No	ClinGen gnomAD
CA363232002 rs1386701357	180	S>G		No	ClinGen gnomAD
CA363232016 rs1222036579	180	S>R		No	ClinGen TOPMed
CA136308400 rs909854506	181	N>D		No	ClinGen TOPMed
rs1319269284 CA363232040	182	N>D		No	ClinGen gnomAD
CA3672859 rs138215264	182	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363232052 rs1330840264	182	N>T		No	ClinGen gnomAD
rs369843054 CA3672860	184	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA363232167 rs1227226844	188	P>L		No	ClinGen TOPMed gnomAD
CA363232165 rs1227226844	188	P>Q		No	ClinGen TOPMed gnomAD
rs973409411 CA136308415	190	V>M		No	ClinGen TOPMed
CA363232211 rs1352352281	191	E>G		No	ClinGen gnomAD
rs148613503 CA3672862	193	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	193	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	194	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3672865 rs780410774	195	V>A		No	ClinGen ExAC TOPMed gnomAD
rs756553049 CA3672864	195	V>F		No	ClinGen ExAC TOPMed
rs1581626429 CA363232281	196	A>T		No	ClinGen Ensembl
rs112574152 CA3672866	196	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA363232299 rs1240880657	197	D>N		No	ClinGen TOPMed
CA363232304 rs1202235496	197	D>V		No	ClinGen TOPMed
rs151227699 CA3672869	198	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1581626513 CA363232340	199	V>A		No	ClinGen Ensembl
CA363232344 rs1581626513	199	V>G		No	ClinGen Ensembl
CA363232350 rs1236107628	200	G>S		No	ClinGen TOPMed
rs1362099437 CA363232368	201	L>Q		No	ClinGen gnomAD
rs1057932 CA136308463	203	A>E		No	ClinGen Ensembl
CA363232461 rs1159310106	207	S>P		No	ClinGen gnomAD
CA3672873 rs776552214	208	V>M		No	ClinGen ExAC gnomAD
rs1229192058 CA363232488	209	I>V		No	ClinGen TOPMed
rs1403947389 CA363232514	210	M>I		No	ClinGen gnomAD
rs1352175876 CA363232507	210	M>V		No	ClinGen gnomAD
CA3672874 rs759408823	211	R>K		No	ClinGen ExAC TOPMed gnomAD
CA3672875 rs769608272	214	S>F		No	ClinGen ExAC gnomAD
rs1581626608 CA363232573	216	E>G		No	ClinGen Ensembl
TCGA novel	217	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334950223 CA363232578	217	G>S		No	ClinGen TOPMed
CA3672876 rs775425163	218	V>I		No	ClinGen ExAC TOPMed gnomAD
rs999174057 CA136308552	219	S>F		No	ClinGen TOPMed gnomAD
rs999174057 CA363232603	219	S>Y		No	ClinGen TOPMed gnomAD
rs762628652 CA3672877	220	C>Y		No	ClinGen ExAC gnomAD
CA3672879 rs774667179	222	I>V		No	ClinGen ExAC gnomAD
TCGA novel	223	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3672881 rs1057933 VAR_021170	224	S>N		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA3672882 rs201789912	227	L>F		No	ClinGen ExAC gnomAD
RCV000949922 CA3672883 rs144114619	227	L>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754276670 CA3672886	228	G>C		No	ClinGen ExAC TOPMed gnomAD
rs754276670 CA3672885	228	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1182604848 CA363232733	231	K>R		No	ClinGen TOPMed
CA363232741 rs1442598163	232	T>A		No	ClinGen TOPMed
rs1561845644 CA363232745	232	T>I		No	ClinGen Ensembl
CA363232758 rs1443059541	233	A>G		No	ClinGen gnomAD
CA363232763 rs1165825290	234	S>G		No	ClinGen gnomAD
rs777508118 CA3672888	235	I>V		No	ClinGen ExAC TOPMed gnomAD
rs779021158 CA136308598	237	I>V		No	ClinGen Ensembl
CA3672892 rs141319367	238	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363233376 rs747919410	239	D>A		No	ClinGen ExAC gnomAD
rs747919410 CA3672915	239	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3672893 rs769813059	239	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	241	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1349423521 CA363233438	243	R>G		No	ClinGen TOPMed
CA136309339 rs1031255880	244	S>T		No	ClinGen TOPMed
CA363233511 rs1365436170	246	Q>H		No	ClinGen TOPMed
rs145059723 CA3672917	246	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760835311 CA3672918	247	R>K		No	ClinGen ExAC TOPMed gnomAD
rs760835311 CA363233526	247	R>M		No	ClinGen ExAC TOPMed gnomAD
rs199668049 CA3672922	251	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199668049 CA3672921	251	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753101869 CA3672923	253	A>S		No	ClinGen ExAC gnomAD
CA363233628 rs753101869	253	A>T		No	ClinGen ExAC gnomAD
rs763283661 CA3672924	254	G>E		No	ClinGen ExAC gnomAD
rs1581628937 CA363233669	255	T>I		No	ClinGen Ensembl
CA363233661 rs1290300790	255	T>P		No	ClinGen gnomAD
CA363233663 rs1290300790	255	T>S		No	ClinGen gnomAD
CA3672925 rs767179748	256	L>P		No	ClinGen ExAC TOPMed gnomAD
rs750004257 CA3672926	257	P>A		No	ClinGen ExAC TOPMed gnomAD
CA363233690 rs750004257	257	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1042452907 CA136309421	258	V>I		No	ClinGen Ensembl
CA3672928 rs779377263	259	L>F		No	ClinGen ExAC
CA363233728 rs1429392029	260	L>M		No	ClinGen TOPMed
rs753377308 CA3672929	260	L>R		No	ClinGen ExAC gnomAD
CA363233739 rs1225403602	261	L>R		No	ClinGen gnomAD
rs754940106 CA3672930	263	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1213846311 CA363233776	264	G>A		No	ClinGen TOPMed gnomAD
CA3672931 rs778969041	264	G>R		No	ClinGen ExAC gnomAD
rs370086892 CA3672934	265	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3672932 rs747975376	265	G>R		No	ClinGen ExAC gnomAD
CA3672933 rs370086892	265	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3672935 rs747142626	266	A>D		No	ClinGen ExAC gnomAD
CA363233808 rs776640643	267	G>C		No	ClinGen ExAC TOPMed gnomAD
rs776640643 CA3672937	267	G>S		No	ClinGen ExAC TOPMed gnomAD
CA363233863 rs1410535621	270	L>P		No	ClinGen gnomAD
rs770336903 CA3672939	273	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA363233907 rs770336903	273	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA363233921 rs1345424365	274	Q>K		No	ClinGen gnomAD
CA3672940 rs775927679	275	E>K		No	ClinGen ExAC TOPMed gnomAD
CA363233936 rs775927679	275	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA363233957 rs1405437688	276	E>G		No	ClinGen gnomAD
rs1446054962 CA363233951	276	E>K		No	ClinGen gnomAD
rs1307362837 CA363233966	277	K>E		No	ClinGen gnomAD
rs35139329	278	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs555187363 CA3672941	279	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363234037 rs1222143848	281	F>V		No	ClinGen gnomAD
CA3672942 VAR_061306 rs41266839	282	R>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs374353978 CA3672943	284	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs148935340 CA3672944	285	K>M		No	ClinGen ESP ExAC gnomAD
rs770513171 CA136309480	285	K>N		No	ClinGen Ensembl
rs368458530 CA3672945	286	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs753335657 CA3672946	288	Q>E		No	ClinGen ExAC gnomAD
rs540382529 CA3672947	289	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363234158 rs540382529	289	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA136309499 rs372807136	290	L>S		No	ClinGen ESP TOPMed
rs779022065 CA363234167	290	L>V		No	ClinGen ExAC TOPMed gnomAD
CA136309504 CA3672949 rs752611443	293	M>I		No	ClinGen ExAC TOPMed gnomAD
rs376287137 CA3672951	294	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs376287137 CA3672950	294	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs560433214 CA136309528	296	S>C		No	ClinGen 1000Genomes
CA363234269 rs1476185514	296	S>R		No	ClinGen TOPMed
rs1028204515 CA363234285	297	T>I		No	ClinGen TOPMed gnomAD
CA136309535 rs1028204515	297	T>K		No	ClinGen TOPMed gnomAD
CA3672952 rs746814701	298	M>T		No	ClinGen ExAC gnomAD
CA3672953 rs771096142	299	K>E		No	ClinGen ExAC gnomAD
rs368232435 CA3672954	299	K>R		No	ClinGen ESP ExAC gnomAD
rs745958653 CA3672955	302	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1307264777 CA363234366	303	S>I		No	ClinGen gnomAD
rs769826029 CA3672956	305	R>K		No	ClinGen ExAC TOPMed gnomAD
CA3672975 rs756203103	307	K>R		No	ClinGen ExAC gnomAD
CA363234485 rs1385345430	310	E>*		No	ClinGen gnomAD
CA3672977 rs749368770	312	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3672998 rs780221853	313	R>I		No	ClinGen ExAC gnomAD
rs1363255875 CA363234576	314	W>*		No	ClinGen TOPMed
CA3672999 rs753970727	314	W>C		No	ClinGen ExAC gnomAD
CA363234607 rs1221125687	316	S>N		No	ClinGen gnomAD
rs143801530 CA3673000	317	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1169355260 CA363234648	319	Y>C		No	ClinGen gnomAD
rs779289471 CA3673001	321	S>C		No	ClinGen ExAC gnomAD
rs748627762 CA3673002	322	R>W		No	ClinGen ExAC TOPMed gnomAD
CA363235098 rs1423147802	323	G>E		No	ClinGen gnomAD
CA3673024 rs779859515	326	H>Y		No	ClinGen ExAC gnomAD
rs1016249513 CA136310756	328	A>S		No	ClinGen TOPMed
CA363235129 rs1016249513	328	A>T		No	ClinGen TOPMed
CA363235135 rs1417621396	329	Y>H		No	ClinGen TOPMed
CA363235145 rs1250100726	330	N>I		No	ClinGen TOPMed
rs1460189922 CA363235165	331	E>A		No	ClinGen gnomAD
rs1185780014 CA363235183	333	K>R		No	ClinGen gnomAD
rs1257253369 CA363235197	335	A>S		No	ClinGen gnomAD
CA136311202 rs574630664	335	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA363235201 rs1581632411	336	L>V		No	ClinGen Ensembl
rs1449111942 CA363235206	337	F>L		No	ClinGen TOPMed
CA363235216 rs1191578944	338	K>E		No	ClinGen TOPMed gnomAD
CA3673047 rs527423717	338	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs371446612 CA136315001	340	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs371446612 CA3673091	340	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA363235845 rs1581634521	341	D>V		No	ClinGen Ensembl
rs986919192 CA136315009	342	V>M		No	ClinGen gnomAD
rs1214878237 CA363235892	345	D>V		No	ClinGen gnomAD
CA3673093 rs375300833	345	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1240264767 CA363235912	347	K>R		No	ClinGen gnomAD
CA3673094 rs774671240	348	T>I		No	ClinGen ExAC gnomAD
CA363235963 rs1194346451	351	P>L		No	ClinGen gnomAD
CA136315015 rs970629789	352	I>V		No	ClinGen TOPMed
rs762018425 CA3673095	355	V>I		No	ClinGen ExAC gnomAD
CA363236046 rs1351884136	357	E>G		No	ClinGen gnomAD
rs773325432 CA3673097	360	R>K		No	ClinGen ExAC gnomAD
CA363236121 rs1415392216	363	Q>K		No	ClinGen gnomAD
rs1318117949 CA363236127	363	Q>R		No	ClinGen gnomAD
CA3673100 rs766874119	364	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3673101 rs766874119	364	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3673102 rs763766883	364	R>H		No	ClinGen ExAC TOPMed gnomAD
rs766874119 CA3673099	364	R>S		No	ClinGen ExAC TOPMed gnomAD
rs756772508 CA3673104	366	K>E		No	ClinGen ExAC gnomAD
CA363236156 rs756772508	366	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	368	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363236188 COSM1076789 rs1345343630	368	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA363236197 rs1281839812	369	Q>K		No	ClinGen gnomAD
rs756046564 CA3673107	369	Q>R		No	ClinGen ExAC gnomAD
rs749121104 CA3673109	372	P>R		No	ClinGen ExAC gnomAD
TCGA novel	373	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs571605350 CA3673110	374	N>I		No	ClinGen 1000Genomes ExAC gnomAD
rs779285604 CA3673111	375	P>S		No	ClinGen ExAC gnomAD
CA3673112 rs748435299	377	R>T		No	ClinGen ExAC
rs1291844965 CA363236281	380	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3673114 RCV000895854 rs773202042	382	Y>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	382	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3673115 rs754406433	383	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1165663777 CA363236305	383	C>W		No	ClinGen TOPMed
CA363236316 rs1437621324	385	L>P		No	ClinGen TOPMed
CA3673117 rs777080463	386	G>S		No	ClinGen ExAC gnomAD
CA3673119 rs765526774	387	C>Y		No	ClinGen ExAC gnomAD
CA363236341 rs1179225516	389	S>N		No	ClinGen TOPMed
rs775819336 CA3673120	390	F>L		No	ClinGen ExAC gnomAD
CA3673121 rs761439687	391	I>T		No	ClinGen ExAC gnomAD
CA3673122 rs767168647	392	S>*		No	ClinGen ExAC gnomAD
rs1440966337 CA363236359	392	S>T		No	ClinGen gnomAD
CA3673123 rs749951455	393	G>E		No	ClinGen ExAC gnomAD
TCGA novel	394	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3673125 rs766452647	395	H>Y		No	ClinGen ExAC gnomAD
CA363236394 rs1211595178	397	W>*		No	ClinGen gnomAD
rs1208743048 CA363236402	398	E>K		No	ClinGen TOPMed
CA363236412 rs1581634863	399	V>G		No	ClinGen Ensembl
rs141935374 CA3673126	399	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581634878 CA363236426	401	V>G		No	ClinGen Ensembl
rs1181276432 CA363236429	402	G>W		No	ClinGen gnomAD
rs1213974902 CA363236440	403	D>E		No	ClinGen TOPMed
CA3673129 rs138001346	404	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs143476765 CA3673130	405	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456807437 CA363236468	407	W>*		No	ClinGen gnomAD
CA363236470 rs1456807437	407	W>C		No	ClinGen gnomAD
rs1385127723 CA363236463	407	W>G		No	ClinGen gnomAD
rs1385127723 CA363236462	407	W>R		No	ClinGen gnomAD
CA363236473 rs1338063807	408	H>Y		No	ClinGen TOPMed
CA363236483 rs1165536313	409	I>T		No	ClinGen gnomAD
rs1581634953 CA363236480	409	I>V		No	ClinGen Ensembl
CA136315165 rs267600911	410	G>E		No	ClinGen Ensembl
CA363236494 rs1408369590	411	V>A		No	ClinGen Ensembl
CA136315168 rs1047874186	411	V>M		No	ClinGen Ensembl
rs1386315437 CA363236505	413	S>G		No	ClinGen TOPMed
CA136315179 rs944277725	420	G>A		No	ClinGen TOPMed gnomAD
CA3673133 rs200068064	420	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3673135 rs777135479	421	W>*		No	ClinGen ExAC TOPMed gnomAD
CA3673134 rs777135479	421	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1024060783 CA136315225	422	V>D		No	ClinGen TOPMed gnomAD
CA3673136 rs770281998	425	T>A		No	ClinGen ExAC TOPMed gnomAD
rs775872488 CA363236596	426	P>A		No	ClinGen ExAC TOPMed gnomAD
rs775872488 CA3673137	426	P>S		No	ClinGen ExAC TOPMed gnomAD
CA363236595 rs775872488	426	P>T		No	ClinGen ExAC TOPMed gnomAD
CA3673138 rs763355527	431	W>*		No	ClinGen ExAC gnomAD
CA3673139 rs767099545	433	M>T		No	ClinGen ExAC
CA363236646 rs1195355388	433	M>V		No	ClinGen gnomAD
rs201160627 CA3673141	434	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201679795 CA3673140	434	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs765933422 CA3673142	439	N>H		No	ClinGen ExAC gnomAD
CA3673143 rs753391625	440	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1422453448 CA363236699	441	Y>C		No	ClinGen TOPMed gnomAD
rs1422453448 CA363236700	441	Y>F		No	ClinGen TOPMed gnomAD
rs147166656 COSM184138 CA3673145	442	R>Q	upper_aerodigestive_tract large_intestine prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3673144 rs772435705	442	R>W		No	ClinGen ExAC gnomAD
CA3673146 rs751120314	443	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1048624250 CA136315277	443	T>I		No	ClinGen TOPMed
rs187033952 CA3673149	446	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3673150 rs747195646	447	P>T		No	ClinGen ExAC gnomAD
rs373072663 CA3673151	448	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1325831096 CA363236743	449	T>I		No	ClinGen gnomAD
CA363236742 rs1325831096	449	T>N		No	ClinGen gnomAD
rs781316705 CA3673152	450	N>S		No	ClinGen ExAC gnomAD
CA363236762 rs1276339158	452	K>R		No	ClinGen TOPMed gnomAD
rs1219421292 CA363236770	453	L>P		No	ClinGen gnomAD
rs1262761996 CA363236781	454	P>L		No	ClinGen gnomAD
CA136315315 rs868442716	454	P>S		No	ClinGen Ensembl
rs564185969 CA3673154	455	K>N		No	ClinGen 1000Genomes ExAC TOPMed
CA3673157 rs749649652	456	P>L		No	ClinGen ExAC gnomAD
rs4712990 CA3673156	456	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_028788 rs4712990 CA3673155	456	P>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1399763366 CA363236807	457	P>S		No	ClinGen TOPMed
TCGA novel	458	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769000428 CA3673158	459	K>T		No	ClinGen ExAC gnomAD
CA3673159 rs772756818	460	V>L		No	ClinGen ExAC gnomAD
CA363236850 rs1171963582	461	G>A		No	ClinGen TOPMed
CA3673160 rs760437554	461	G>R		No	ClinGen ExAC gnomAD
CA363236858 rs1477864267	462	V>D		No	ClinGen gnomAD
rs1430864771 CA363236853	462	V>I		No	ClinGen TOPMed
CA3673161 rs770673654	465	D>E		No	ClinGen ExAC gnomAD
rs191073512 CA3673163	468	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363236934 rs1384011590	469	G>R		No	ClinGen gnomAD
rs752612510 CA3673165	470	D>E		No	ClinGen ExAC gnomAD
rs765294453 CA3673164	470	D>H		No	ClinGen ExAC gnomAD
CA136315414 rs968753844	471	I>M		No	ClinGen TOPMed
rs1400761145 CA363236962	471	I>T		No	ClinGen gnomAD
rs149670627 CA3673166	471	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs955422332 CA136315415	472	S>A		No	ClinGen TOPMed gnomAD
CA363236987 rs1310719191	473	F>S		No	ClinGen gnomAD
rs987253156 CA136315416	476	A>V		No	ClinGen Ensembl
rs1561850477 CA363237034	477	V>L		No	ClinGen Ensembl
CA3673167 rs563390836	480	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1214999268 CA363237082	481	H>R		No	ClinGen gnomAD
CA3673169 rs757512014	483	H>L		No	ClinGen ExAC gnomAD
CA363237108 rs757512014	483	H>R		No	ClinGen ExAC gnomAD
TCGA novel	483	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363237123 rs1488321721	484	T>I		No	ClinGen gnomAD
CA136315422 rs943199233	484	T>S		No	ClinGen Ensembl
rs1561850520 CA363237144 COSM595548	486	L>P	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	487	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144592497 CA3673172	488	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3673171 rs144592497	488	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1338550281 CA363237174	489	S>P		No	ClinGen TOPMed
CA363237214 rs1047653428	493	A>P		No	ClinGen gnomAD
rs1047653428 CA136315448	493	A>S		No	ClinGen gnomAD
CA363237225 rs1417638582	494	L>V		No	ClinGen gnomAD
CA3673174 rs749750301	495	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA136315461 rs1048539288	498	F>L		No	ClinGen TOPMed gnomAD
rs1293060536 CA363237303	500	I>T		No	ClinGen TOPMed gnomAD
rs779371964 CA3673176	501	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1388680437 CA363237321	502	T>S		No	ClinGen gnomAD
rs1302247776 CA363237343	504	E>*		No	ClinGen gnomAD
CA3673177 rs148488957	504	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	505	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs536232321 CA3673179	506	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA136315478 rs777604885	509	T>A		No	ClinGen gnomAD
CA136315483 rs1045882122	509	T>N		No	ClinGen TOPMed gnomAD
rs763013076 CA3673183	512	P>R		No	ClinGen ExAC gnomAD
rs774848813 CA3673182	512	P>T		No	ClinGen ExAC gnomAD
rs751420710 CA363237433	513	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751420710 CA3673185	513	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3673186 rs146475063	513	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs750580366 CA363237450	514	A>C		No	ClinGen ExAC gnomAD
rs750580366 CA3673188	514	A>W		No	ClinGen ExAC gnomAD

No associated diseases with O00481

14 regional properties for O00481

Type	Name	Position	InterPro Accession
domain	B30.2/SPRY domain	322 - 513	IPR001870
domain	Immunoglobulin subtype	37 - 144	IPR003599
domain	SPRY domain	392 - 513	IPR003877
domain	Butyrophylin-like, SPRY domain	338 - 355	IPR003879-1
domain	Butyrophylin-like, SPRY domain	355 - 372	IPR003879-2
domain	Butyrophylin-like, SPRY domain	377 - 401	IPR003879-3
domain	Butyrophylin-like, SPRY domain	407 - 420	IPR003879-4
domain	Butyrophylin-like, SPRY domain	451 - 475	IPR003879-5
domain	Butyrophylin-like, SPRY domain	482 - 500	IPR003879-6
domain	SPRY-associated	339 - 391	IPR006574
domain	Immunoglobulin-like domain	26 - 139	IPR007110-1
domain	Immunoglobulin-like domain	164 - 236	IPR007110-2
domain	Immunoglobulin V-set domain	37 - 143	IPR013106
domain	Butyrophilin subfamily 3, PRY/SPRY domain	337 - 512	IPR037954

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

6 GO annotations of biological process

Name	Definition
activated T cell proliferation	The expansion of a T cell population following activation by an antigenic stimulus.
adaptive immune response	An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
positive regulation of cytokine production	Any process that activates or increases the frequency, rate or extent of production of a cytokine.
positive regulation of interferon-gamma production	Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.
regulation of cytokine production	Any process that modulates the frequency, rate, or extent of production of a cytokine.
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
P78410	BTN3A2	Butyrophilin subfamily 3 member A2	Homo sapiens (Human)	PR
A8MVZ5	BTNL10P	Putative butyrophilin-like protein 10 pseudogene	Homo sapiens (Human)	PR

10	20	30	40	50	60
MKMASFLAFL	LLNFRVCLLL	LQLLMPHSAQ	FSVLGPSGPI	LAMVGEDADL	PCHLFPTMSA
70	80	90	100	110	120
ETMELKWVSS	SLRQVVNVYA	DGKEVEDRQS	APYRGRTSIL	RDGITAGKAA	LRIHNVTASD
130	140	150	160	170	180
SGKYLCYFQD	GDFYEKALVE	LKVAALGSDL	HVDVKGYKDG	GIHLECRSTG	WYPQPQIQWS
190	200	210	220	230	240
NNKGENIPTV	EAPVVADGVG	LYAVAASVIM	RGSSGEGVSC	TIRSSLLGLE	KTASISIADP
250	260	270	280	290	300
FFRSAQRWIA	ALAGTLPVLL	LLLGGAGYFL	WQQQEEKKTQ	FRKKKREQEL	REMAWSTMKQ
310	320	330	340	350	360
EQSTRVKLLE	ELRWRSIQYA	SRGERHSAYN	EWKKALFKPA	DVILDPKTAN	PILLVSEDQR
370	380	390	400	410	420
SVQRAKEPQD	LPDNPERFNW	HYCVLGCESF	ISGRHYWEVE	VGDRKEWHIG	VCSKNVQRKG
430	440	450	460	470	480
WVKMTPENGF	WTMGLTDGNK	YRTLTEPRTN	LKLPKPPKKV	GVFLDYETGD	ISFYNAVDGS
490	500	510
HIHTFLDVSF	SEALYPVFRI	LTLEPTALTI	CPA