AiPD: Autoinhibited Protein Database

Q8N5D6

Gene name	GBGT1
Protein name	Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
Names	Forssman glycolipid synthase-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26301
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

135-208 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

135-208 (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 Q8N5D6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N5D6-F1	Predicted				AlphaFoldDB

332 variants for Q8N5D6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1329088656 CA375412265	2	H>Q		No	ClinGen TOPMed gnomAD
CA5305310 rs140076798	3	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5305308 rs376486008	3	R>H		No	ClinGen ESP ExAC gnomAD
CA5305309 rs140076798	3	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5305306 rs778698739	4	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs373488826 CA5305307	4	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5305305 rs754796161	6	L>P		No	ClinGen ExAC gnomAD
CA375412198 rs1333232837	7	A>D		No	ClinGen TOPMed
rs1320996919 CA375412190	8	L>P		No	ClinGen gnomAD
rs751600665 CA5305301	9	G>D		No	ClinGen ExAC TOPMed gnomAD
CA375412024 rs1437280125	16	A>P		No	ClinGen TOPMed
CA5305299 rs369304227	16	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs759878552 CA5305296	17	G>D		No	ClinGen ExAC TOPMed
CA375411979 rs759878552	17	G>V		No	ClinGen ExAC TOPMed
rs1162960895 CA375411914	19	S>G		No	ClinGen TOPMed
rs2073924 CA5305295 VAR_022452	20	L>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375411869 rs2073924	20	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_025068 rs35578482 CA5305294	21	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375411815 rs1171266721	22	V>L		No	ClinGen TOPMed
rs1341678383 CA375411604	24	W>*		No	ClinGen TOPMed gnomAD
rs1399843841 CA375411579	25	V>E		No	ClinGen TOPMed
CA375411587 rs1588592230	25	V>L		No	ClinGen Ensembl
CA200972484 rs539951129	26	Y>H		No	ClinGen Ensembl
rs754203748 CA5305272	27	L>F		No	ClinGen ExAC gnomAD
rs766861272 CA5305271	28	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5305270 rs760333589	30	W>R		No	ClinGen ExAC gnomAD
CA375411454 rs1588592185	32	P>A		No	ClinGen Ensembl
CA375411394 rs773818322	35	Y>*		No	ClinGen gnomAD
rs1392645977 CA375411398	35	Y>D		No	ClinGen gnomAD
rs1392645977 CA375411401	35	Y>H		No	ClinGen gnomAD
CA5305268 rs767121053	36	V>I		No	ClinGen ExAC TOPMed
rs1307068759 CA375411373	37	P>S		No	ClinGen gnomAD
rs975499104 CA200972428	39	Y>C		No	ClinGen TOPMed
rs1588592131 CA375411308	40	L>V		No	ClinGen Ensembl
rs774311365 CA5305265	43	P>L		No	ClinGen ExAC
rs370165804 CA5305266	43	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5305263 rs775207727	45	I>S		No	ClinGen ExAC gnomAD
CA5305262 rs775207727	45	I>T		No	ClinGen ExAC gnomAD
rs768436740 CA5305264	45	I>V		No	ClinGen ExAC gnomAD
CA375408545 rs1564264113	46	F>L		No	ClinGen Ensembl
CA375408415 rs1437750104	52	Y>*		No	ClinGen gnomAD
rs990746579 CA200967027	52	Y>F		No	ClinGen TOPMed
rs780755250 CA375408382	55	E>*		No	ClinGen ExAC gnomAD
rs780755250 CA5305227	55	E>K		No	ClinGen ExAC gnomAD
CA5305225 rs376647799	56	K>*		No	ClinGen ESP ExAC TOPMed
CA5305224 rs755730083	57	P>T		No	ClinGen ExAC TOPMed gnomAD
rs201026152 CA200966996	58	L>F		No	ClinGen Ensembl
CA375408325 rs1165588281	59	Q>*		No	ClinGen gnomAD
CA5305222 rs750121195	60	P>L		No	ClinGen ExAC TOPMed gnomAD
rs139796375 CA5305223	60	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5305220 rs374147391	61	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5305219 rs374147391	61	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5305218 rs150605526	62	V>I		No	ClinGen ESP ExAC
CA5305199 rs373328427	63	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5305217 rs759504776	63	W>R		No	ClinGen ExAC gnomAD
rs1476777298 CA375408221	65	Q>*		No	ClinGen gnomAD
CA5305196 rs370102294	66	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5305197 rs117595304	66	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5305198 rs753878697	66	Y>H		No	ClinGen ExAC gnomAD
rs764370932 CA5305194	73	E>G		No	ClinGen ExAC gnomAD
CA5305195 rs774404360	73	E>Q		No	ClinGen ExAC gnomAD
rs763288546 CA5305193	74	H>Y		No	ClinGen ExAC gnomAD
rs1382071413 CA375407551	76	P>S		No	ClinGen gnomAD
CA5305159 rs146029453	77	T>A		No	ClinGen ESP ExAC
rs12350913 CA5305156 VAR_025069	79	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201031889 CA200966086	85	W>R		No	ClinGen 1000Genomes
CA5305154 rs185276552 COSM1106377	87	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs765597648 CA5305152	88	P>S		No	ClinGen ExAC gnomAD
rs766386611 CA5305149	90	V>A		No	ClinGen ExAC gnomAD
CA5305150 rs146249736	90	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375407420 rs1385858649	92	E>D		No	ClinGen TOPMed gnomAD
CA5305146 rs772401108	92	E>K		No	ClinGen ExAC gnomAD
rs762203321 CA5305145	93	G>A		No	ClinGen ExAC gnomAD
CA5305144 rs201954498	94	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1400064985 CA375407410	94	T>P		No	ClinGen TOPMed
CA200965968 rs767142998	97	P>R		No	ClinGen Ensembl
CA375407344 rs1386897370	101	Q>H		No	ClinGen gnomAD
CA5305143 rs768303553	101	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	102	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748906757 CA5305142	104	Y>S		No	ClinGen ExAC gnomAD
CA375407305 rs1564263260	106	P>Q		No	ClinGen Ensembl
CA375407298 rs369929528	107	L>V		No	ClinGen ESP gnomAD
rs138467094 CA5305141	111	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769256294 CA5305140	114	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5305139 rs149456203	114	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200965925 rs149456203	114	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777735404 CA5305135	117	A>D		No	ClinGen ExAC TOPMed gnomAD
CA375407135 rs777735404	117	A>G		No	ClinGen ExAC TOPMed gnomAD
rs777735404 CA375407134	117	A>V		No	ClinGen ExAC TOPMed gnomAD
rs375210338 CA5305133	118	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1479545060 CA375407117	119	G>R		No	ClinGen TOPMed
rs959884707 CA200965829	120	K>*		No	ClinGen TOPMed gnomAD
COSM3763718 rs35898523 CA5305118	121	Y>*	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA200964904 rs370796684	121	Y>F		No	ClinGen ESP
CA200964881 rs962912980	122	T>A		No	ClinGen gnomAD
CA5305117 rs758181959	122	T>S		No	ClinGen ExAC gnomAD
rs1224631865 CA375406906	123	H>Y		No	ClinGen gnomAD
CA5305115 rs371606263	125	I>T		No	ClinGen ESP ExAC gnomAD
rs1412972743 CA375406860	125	I>V		No	ClinGen gnomAD
CA5305114 rs756387643	128	F>L		No	ClinGen ExAC gnomAD
CA375406792 rs1188032627	128	F>S		No	ClinGen gnomAD
rs376026344 CA200964809	129	L>P		No	ClinGen ESP gnomAD
rs750452166 CA5305113	132	A>T		No	ClinGen ExAC gnomAD
rs117609609 CA5305111	133	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375406596 rs1358066023	135	F>L		No	ClinGen gnomAD
CA375406503 rs1162366929	137	M>I		No	ClinGen TOPMed
rs752126496 CA375406484	138	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5305110 rs752126496	138	R>P		No	ClinGen ExAC TOPMed gnomAD
rs764506322 CA5305109	139	G>E		No	ClinGen ExAC TOPMed gnomAD
CA375406450 rs1382658221	140	Y>H		No	ClinGen gnomAD
rs200931814 CA5305108	141	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200931814 CA5305107	141	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375406399 rs1335402262	141	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA200964745 rs369113842	142	V>L		No	ClinGen ESP TOPMed
CA375406294 rs1356182539	145	Y>C		No	ClinGen TOPMed
CA5305105 rs776225870	145	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA5305104 rs776225870	145	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs376407633 CA375406273	146	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376407633 CA5305103	146	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1383298253 CA375406233	147	F>S		No	ClinGen gnomAD
CA375406184 rs1330406855	148	T>I		No	ClinGen gnomAD
rs1588582533 CA375406125	150	N>T		No	ClinGen Ensembl
CA375406109 rs1452956294	151	P>A		No	ClinGen TOPMed gnomAD
rs771865093 CA5305099	151	P>R		No	ClinGen ExAC gnomAD
rs1452956294 CA375406098	151	P>S		No	ClinGen TOPMed gnomAD
CA375406106 rs1452956294	151	P>T		No	ClinGen TOPMed gnomAD
CA5305096 rs769944218	154	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746093226 CA5305095	155	P>A		No	ClinGen ExAC gnomAD
CA5305094 rs547647945	156	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1351801339 CA375405884	157	V>D		No	ClinGen TOPMed gnomAD
CA200964664 rs1042346887	157	V>I		No	ClinGen Ensembl
rs147110868 CA5305091	158	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs147110868 CA5305092	158	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375405802 rs1170287982	160	G>S		No	ClinGen TOPMed gnomAD
rs1449953378 CA375405790	160	G>V		No	ClinGen gnomAD
CA5305088 rs765650473	161	P>R		No	ClinGen ExAC gnomAD
CA375405719 rs1470354888	162	H>Y		No	ClinGen TOPMed gnomAD
rs41297225 CA5305083	163	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34260370 CA5305084 VAR_025070	163	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375405632 rs1588582354	165	L>F		No	ClinGen Ensembl
CA375405600 rs147921910	166	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5305082 rs147921910	166	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA375405436 rs750494096	171	Q>H		No	ClinGen gnomAD
CA5305080 rs371591085	172	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA375405415 rs1308573408	172	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA375405362 rs1235222127	173	H>L		No	ClinGen TOPMed
CA375405357 rs1304067136	173	H>Q		No	ClinGen TOPMed
rs746076670 CA5305078	174	S>C		No	ClinGen ExAC gnomAD
CA5305079 rs746076670	174	S>Y		No	ClinGen ExAC gnomAD
rs1347114892 CA375405257	177	E>Q		No	ClinGen TOPMed
COSM3847953 CA5305076 rs770968554	179	T>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5305075 rs772584964	181	M>K		No	ClinGen ExAC TOPMed gnomAD
CA5305074 rs772584964	181	M>R		No	ClinGen ExAC TOPMed gnomAD
CA5305073 rs772584964	181	M>T		No	ClinGen ExAC TOPMed gnomAD
CA5305071 rs200869632	182	R>C		No	ClinGen ExAC TOPMed gnomAD
rs545204928 CA5305070	182	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5305072 rs200869632	182	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5305068 rs567017454	183	R>Q		No	ClinGen 1000Genomes ExAC TOPMed
CA5305069 rs149153497	183	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1463079119 CA375405072	184	M>I		No	ClinGen gnomAD
rs755810451 CA5305067	186	T>I		No	ClinGen ExAC gnomAD
CA5305065 rs767056180	187	I>L		No	ClinGen ExAC gnomAD
rs1396176167 CA375404930	191	I>V		No	ClinGen TOPMed
CA5305064 rs761650205	192	A>P		No	ClinGen ExAC gnomAD
CA200964426 rs942162358	192	A>V		No	ClinGen TOPMed
rs1481201537 CA591362075	193	K>*		No	ClinGen gnomAD
CA375404854 rs1184742108	193	K>N		No	ClinGen gnomAD
rs553136102 CA375404864	193	K>R		No	ClinGen 1000Genomes gnomAD
rs553136102 CA200964412	193	K>T		No	ClinGen 1000Genomes gnomAD
rs972356901 CA200964373	194	R>S		No	ClinGen Ensembl
rs1564261887 CA591362074	194	R>S*		No	ClinGen Ensembl
CA5305063 rs145248624	194	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5305061 rs150021604	197	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763854503 CA5305062	197	R>W		No	ClinGen ExAC gnomAD
rs747270969 CA5305059	198	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5305060 rs139506150	198	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs757078908 CA200964299	200	D>G		No	ClinGen Ensembl
VAR_025071 rs34903033 CA5305057	200	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772263720 CA5305056	201	Y>C		No	ClinGen ExAC
rs748593911 CA5305055	202	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5305054 rs555495801	203	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5305053 rs755569444	204	C>Y		No	ClinGen ExAC
rs200934121 CA5305051	207	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749618519 CA5305052	207	V>M		No	ClinGen ExAC TOPMed gnomAD
CA375404281 rs1316998497	209	M>I		No	ClinGen TOPMed
CA5305050 rs755653587	209	M>T		No	ClinGen ExAC gnomAD
rs1564261753 CA375404274	210	V>A		No	ClinGen Ensembl
rs139139616 CA5305049	210	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs200675318 CA5305048	212	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA375404205 rs1413711247	212	R>W		No	ClinGen TOPMed gnomAD
rs756840569 CA5305047	213	N>H		No	ClinGen ExAC gnomAD
CA5305046 COSM1701876 rs751467619	214	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1250174480 CA375404165	214	P>S		No	ClinGen gnomAD
CA375404024 rs1244336769	218	E>K		No	ClinGen gnomAD
rs1270102402 CA375403979	219	T>I		No	ClinGen TOPMed gnomAD
CA5305043 rs775209665	219	T>S		No	ClinGen ExAC gnomAD
rs1192323201 CA375403933	220	L>F		No	ClinGen TOPMed
CA5305042 rs765023363	220	L>S		No	ClinGen ExAC gnomAD
rs1316583335 CA375403926	221	G>E		No	ClinGen gnomAD
rs1035166801 CA200964227	221	G>R		No	ClinGen Ensembl
rs1588581901 CA375403867	222	D>A		No	ClinGen Ensembl
CA375403864 rs1410877996	222	D>E		No	ClinGen TOPMed
CA375403798 rs772027876	225	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5305039 rs772027876	225	A>T		No	ClinGen ExAC TOPMed gnomAD
rs748214866 CA5305038	226	A>S		No	ClinGen ExAC
CA200964196 rs1009391961	226	A>V		No	ClinGen TOPMed
CA375403732 rs1588581837	228	H>P		No	ClinGen Ensembl
CA375403709 rs1564261596	229	P>R		No	ClinGen Ensembl
rs774591663 CA5305037	230	S>I		No	ClinGen ExAC gnomAD
CA5305036 rs34691037	232	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5305034 rs199834711	233	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375403597 rs1320647017	233	A>V		No	ClinGen gnomAD
CA5305033 rs201557726	234	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201557726 CA5305032	234	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1304293763 CA375403554	235	P>S		No	ClinGen TOPMed
CA5305031 rs529154552	236	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs75765336 CA5305030	236	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM487182 rs777280434 CA5305028	238	Q>H	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5305029 rs35366884 VAR_025072	238	Q>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148259540 CA5305027	239	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1249930539 CA375403442	239	F>Y		No	ClinGen gnomAD
CA375403425 rs1205811499	240	P>S		No	ClinGen TOPMed gnomAD
rs143947553 CA5305026	241	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200964114 rs1050908178	241	Y>N		No	ClinGen gnomAD
rs764931171 CA5305025	242	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5305024 rs759428295	243	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5305023 COSM4163479 rs143563851	243	R>H	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs762137001 CA5305021	244	R>G		No	ClinGen ExAC gnomAD
rs774503732 CA5305020	244	R>K		No	ClinGen ExAC gnomAD
rs763538966 CA5305018	245	R>C		No	ClinGen ExAC gnomAD
COSM1460781 CA5305017 rs376026740	245	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5305019 rs763538966	245	R>S		No	ClinGen ExAC gnomAD
rs770022533 CA5305016	248	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5305015 rs35184631 VAR_025073	248	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5305013 rs770560808	251	V>A		No	ClinGen ExAC
rs578065342 CA5305014	251	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559657174 CA5305012	253	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs200351395 CA5305011	254	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375403155 rs770526068	254	S>R		No	ClinGen TOPMed gnomAD
rs757964295 CA5305010	255	E>K		No	ClinGen ExAC TOPMed gnomAD
rs372817183 CA5305009	255	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA375403101 rs959626308	257	D>G		No	ClinGen Ensembl
CA200963990 rs959626308	257	D>V		No	ClinGen Ensembl
TCGA novel	258	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375403081 rs1290709741	258	F>S		No	ClinGen TOPMed gnomAD
CA200963984 rs976139003 COSM753297	259	Y>C	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA375403028 rs1251885724	260	Y>*		No	ClinGen TOPMed gnomAD
CA5305006 rs146935891	261	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754890019 CA5305007	261	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1405132168 CA375402995	262	G>R		No	ClinGen gnomAD
CA5305003 rs751886102	262	G>V		No	ClinGen ExAC gnomAD
CA5305002 rs764246007	264	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5305001 rs763164789	265	F>L		No	ClinGen ExAC gnomAD
CA375402920 rs775462632 CA5305000	266	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5304999 rs770287068	267	G>R		No	ClinGen ExAC gnomAD
rs770287068 CA375402896	267	G>W		No	ClinGen ExAC gnomAD
rs1588581433 CA375402824	269	V>G		No	ClinGen Ensembl
rs1588581413 CA375402745	272	V>G		No	ClinGen Ensembl
TCGA novel	272	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1197010220 CA375402754	272	V>L		No	ClinGen gnomAD
CA5304994 rs771269543	273	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA200963894 rs771269543	273	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA5304993 rs746653853	274	E>*		No	ClinGen ExAC gnomAD
rs141818117 CA5304992	274	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA375402630 rs1588581381	277	R>G		No	ClinGen Ensembl
rs1588581377 CA375402620	277	R>T		No	ClinGen Ensembl
rs1257190308 CA375402603	278	G>D		No	ClinGen gnomAD
rs747620866 CA5304990	279	C>W		No	ClinGen ExAC gnomAD
rs778295622 CA5304989	281	M>V		No	ClinGen ExAC gnomAD
rs1281059885 CA375402494	282	A>S		No	ClinGen gnomAD
CA200963852 rs957419649	283	I>V		No	ClinGen TOPMed
CA5304987 COSM3942928 rs756020558	285	A>E	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756020558 CA5304985	285	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5304986 rs756020558	285	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5304982 rs758724789	286	D>E		No	ClinGen ExAC gnomAD
rs764362752 CA5304983	286	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1411685339 CA375402257	289	N>S		No	ClinGen gnomAD
CA375402214 rs1178651059	290	G>D		No	ClinGen TOPMed gnomAD
CA5304980 rs35403335 VAR_025074	291	I>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5304978 rs777068779	292	M>T		No	ClinGen ExAC gnomAD
rs760073555 CA5304979	292	M>V		No	ClinGen ExAC gnomAD
rs1051485385 CA200963788	293	A>V		No	ClinGen TOPMed
CA200963782 rs558116023	295	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA5304977 rs558116023	295	W>C		No	ClinGen 1000Genomes ExAC gnomAD
CA5304975 VAR_085166 rs375748588	296	R>Q	found in FORS blood group carriers; reactivates Forssman antigen synthesis and expression in erythrocytes [UniProt]	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs141041392 CA5304976	296	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375402080 rs1588581214	297	E>G		No	ClinGen Ensembl
TCGA novel	297	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350988045 CA375402068	298	E>A		No	ClinGen gnomAD
rs747772128 CA5304973	298	E>K		No	ClinGen ExAC TOPMed gnomAD
CA375402049 rs1269239273	299	S>I		No	ClinGen gnomAD
CA375402037 rs1588581193	300	H>P		No	ClinGen Ensembl
CA5304970 rs202240295	303	R>C		No	ClinGen ExAC TOPMed gnomAD
CA200963688 rs1005988770	303	R>H		No	ClinGen TOPMed gnomAD
rs565649672 CA5304968	304	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs756144038 CA5304967	305	F>V		No	ClinGen ExAC gnomAD
CA375401977 rs1334826532	305	F>Y		No	ClinGen gnomAD
rs1402613617 CA375401972	306	I>L		No	ClinGen gnomAD
rs1564260932 CA375401944	308	N>K		No	ClinGen Ensembl
rs190265395 CA200963640	310	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs190265395 CA5304966	310	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1468473983 CA375401918	311	S>F		No	ClinGen gnomAD
CA5304963 rs752918675	313	V>A		No	ClinGen ExAC gnomAD
CA5304964 rs758634761	313	V>M		No	ClinGen ExAC TOPMed gnomAD
CA200963561 rs928230429	316	P>A		No	ClinGen gnomAD
TCGA novel	316	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5304960 rs151100399	317	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs151100399 CA5304961	317	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA375401832 rs1283169857	318	Y>H		No	ClinGen TOPMed gnomAD
rs1588581037 CA375401828	318	Y>S		No	ClinGen Ensembl
rs200918919 CA200963536	319	L>F		No	ClinGen 1000Genomes TOPMed
rs1204903480 CA375401805	320	W>R		No	ClinGen gnomAD
CA5304957 rs773511987	322	D>E		No	ClinGen ExAC gnomAD
TCGA novel	322	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5304958 rs186493112	322	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375401740 rs1382722656	324	K>R		No	ClinGen gnomAD
CA375401742 rs1382722656	324	K>T		No	ClinGen gnomAD
rs1564260814 CA375401716	326	Q>P		No	ClinGen Ensembl
CA200963514 rs371781199	327	P>L		No	ClinGen ESP
TCGA novel	328	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149989782 CA375401683	328	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149989782 CA5304955	328	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1225606412 CA375401678	329	S>G		No	ClinGen TOPMed
CA5304953 rs773917693	333	I>T		No	ClinGen ExAC TOPMed gnomAD
COSM1106371 CA5304952 rs189095621	334	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs202004832 CA5304950	334	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs202004832 CA200963470	334	R>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA200963460 rs1007548660	337	T>A		No	ClinGen Ensembl
CA375401531 rs1468810338	338	L>P		No	ClinGen TOPMed
CA200963456 rs927361668	340	K>M		No	ClinGen TOPMed gnomAD
rs1187733729 CA375401483	341	D>Y		No	ClinGen gnomAD
CA375401445 rs1470874270	343	S>T		No	ClinGen TOPMed

No associated diseases with Q8N5D6

No regional properties for Q8N5D6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8N5D6

Functions

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

4 GO annotations of cellular component

Name	Definition
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.
vesicle	Any small, fluid-filled, spherical organelle enclosed by membrane.

2 GO annotations of molecular function

Name	Definition
globoside alpha-N-acetylgalactosaminyltransferase activity	Catalysis of the reaction: N-acetyl-D-galactosaminyl-(1,3)-D-galactosyl-(1,4)-D-galactosyl-(1,4)-D-glucosylceramide + UDP-N-acetylgalactosamine = N-acetyl-D-galactosaminyl-N-acetyl-D-galactosaminyl-(1,3)-D-galactosyl-(1,4)-D-galactosyl-(1,4)-D-glucosylceramide + UDP.
metal ion binding	Binding to a metal ion.

4 GO annotations of biological process

Name	Definition
carbohydrate metabolic process	The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.
glycolipid biosynthetic process	The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide).
lipid glycosylation	Covalent attachment of a glycosyl residue to a lipid molecule.
protein glycosylation	A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8VI38	Gbgt1	Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MHRRRLALGL	GFCLLAGTSL	SVLWVYLENW	LPVSYVPYYL	PCPEIFNMKL	HYKREKPLQP
70	80	90	100	110	120
VVWSQYPQPK	LLEHRPTQLL	TLTPWLAPIV	SEGTFNPELL	QHIYQPLNLT	IGVTVFAVGK
130	140	150	160	170	180
YTHFIQSFLE	SAEEFFMRGY	RVHYYIFTDN	PAAVPGVPLG	PHRLLSSIPI	QGHSHWEETS
190	200	210	220	230	240
MRRMETISQH	IAKRAHREVD	YLFCLDVDMV	FRNPWGPETL	GDLVAAIHPS	YYAVPRQQFP
250	260	270	280	290	300
YERRRVSTAF	VADSEGDFYY	GGAVFGGQVA	RVYEFTRGCH	MAILADKANG	IMAAWREESH
310	320	330	340
LNRHFISNKP	SKVLSPEYLW	DDRKPQPPSL	KLIRFSTLDK	DISCLRS