AiPD: Autoinhibited Protein Database

Q9UBV7

Gene name	B4GALT7 (XGALT1, UNQ748/PRO1478)
Protein name	Beta-1,4-galactosyltransferase 7
Names	Beta-1,4-GalTase 7, Beta4Gal-T7, b4Gal-T7, Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7, UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7, UDP-galactose:beta-xylose beta-1,4-galactosyltransferase, XGPT, XGalT-1, Xylosylprotein 4-beta-galactosyltransferase, Xylosylprotein beta-1,4-galactosyltransferase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11285
EC number	2.4.1.133: Hexosyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-119 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-119 (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

3 structures for Q9UBV7

Entry ID	Method	Resolution	Chain	Position	Source
4IRP	X-ray	210 A	A/B	81-327	PDB
4IRQ	X-ray	230 A	A/B/C/D	81-327	PDB
AF-Q9UBV7-F1	Predicted				AlphaFoldDB

390 variants for Q9UBV7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs200503833 RCV002278270 RCV000344285 RCV002470837 RCV000725058 CA3586344	13	W>*	Ehlers-Danlos syndrome Ehlers-Danlos syndrome, spondylodysplastic type, 1 Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs375845310 RCV000210975 CA3586383	41	L>P	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3586399 RCV000709857 RCV002534483 rs373059256	62	R>K	Ehlers-Danlos syndrome progeroid type Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs780427259 RCV001866487	75	C>*	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinVar dbSNP
RCV002518544 RCV000239551 RCV001092138 rs879255634 RCV003147431	93	H>missing	Ehlers-Danlos syndrome, spondylodysplastic type, 1 Ehlers-Danlos syndrome progeroid type Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA3586433 COSM1186914 rs370658610 RCV001306856	93	H>R	lung Ehlers-Danlos syndrome progeroid type [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000709856 COSM3697166 rs142476892 CA3586432 RCV000416090 RCV002278651	93	H>Y	Ehlers-Danlos syndrome large_intestine Ehlers-Danlos syndrome progeroid type [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs926913315 CA132892199 RCV001766763 RCV000845083	95	L>V	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000521427 CA3586439 rs771088509 RCV001857982	101	F>S	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001053837 CA3586454 RCV001538738 rs568792091	125	R>Q	Variant assessed as Somatic; 0.0 impact. Ehlers-Danlos syndrome progeroid type [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD
RCV002462129 CA362374384 rs1370937766 RCV001856177 RCV000779598	133	Q>R	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV003137853 CA3586497 rs187063864 RCV000414159 RCV000239499	141	R>W	Ehlers-Danlos syndrome, spondylodysplastic type, 1 Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs137913131 RCV000523049 RCV001853668 CA3586529	185	V>M	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000005963 VAR_010293 rs121917817 CA117646	186	A>D	Ehlers-Danlos syndrome progeroid type EDSSPD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs149484064 RCV001853700 RCV000520600 CA3586533	188	P>R	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001564485 CA3586539 rs200732558 RCV000902743	197	K>E	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA132894876 RCV002554843 rs935389752 RCV001092139	201	G>S	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_010294 RCV000005964 rs121917818 CA117647	206	L>P	Ehlers-Danlos syndrome progeroid type EDSSPD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA3586614 RCV001551344 rs753594601 RCV000239469	214	C>Y	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001323453 rs199905021 RCV002290689 CA3586617	220	R>C	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA362376391 RCV000801019 rs1468472910	221	F>S	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA3586625 RCV001585869 rs201489289 RCV000925138	226	R>C	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001564115 rs147617631 CA3586636 RCV000981636	233	R>W	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA362376793 RCV001325133 rs1435784513	254	T>I	Variant assessed as Somatic; impact. Ehlers-Danlos syndrome progeroid type [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs375644526 CA3586687 RCV001855134 RCV003144194 RCV000331849	264	R>Q	Ehlers-Danlos syndrome, spondylodysplastic type, 1 Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000005965 RCV000779599 CA117648 RCV000258718 rs28937869 RCV000413846 RCV002482832	270	R>C	Ehlers-Danlos syndrome, spondylodysplastic type, 1 Ehlers-Danlos syndrome progeroid type Larsen-like syndrome, B3GAT3 type [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000429366 CA3586692 RCV001066223 RCV002522511 rs146632722	272	A>T	Ehlers-Danlos syndrome progeroid type Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1481659687 CA362377197 RCV001257134	277	E>*	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs780922438 RCV002521622 RCV000427309 CA3586726	292	Y>C	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA3586740 RCV001865481 RCV002279248 CA3586739 RCV000479006 rs145082497	304	G>R	Ehlers-Danlos syndrome Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA362377755 RCV001335541 rs770222232	320	A>D	Ehlers-Danlos syndrome progeroid type [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA362371523 rs1160171646	2	F>I		No	ClinGen gnomAD
CA362371532 rs749515076	3	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1418978445 CA362371535	3	P>L		No	ClinGen TOPMed gnomAD
CA3586341 rs749515076	3	P>S		No	ClinGen ExAC TOPMed gnomAD
rs757046426 CA3586342	4	S>*		No	ClinGen ExAC gnomAD
rs1392230207 CA362371545	5	R>L		No	ClinGen TOPMed gnomAD
rs1392230207 CA362371543	5	R>Q		No	ClinGen TOPMed gnomAD
rs1485732305 CA362371548	6	R>K		No	ClinGen TOPMed gnomAD
rs886748984 CA132886035	6	R>S		No	ClinGen TOPMed gnomAD
rs1370799068 CA362371556	7	K>R		No	ClinGen TOPMed gnomAD
rs1311839195 CA362371577	10	Q>L		No	ClinGen gnomAD
rs1311839195 CA362371576	10	Q>R		No	ClinGen gnomAD
CA362371582 rs1375372500	11	L>Q		No	ClinGen gnomAD
rs794726935 CA238875 RCV000173418	12	P>L		No	ClinGen ClinVar TOPMed dbSNP
rs200503833 CA362371593	13	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1266147880 CA362371591	13	W>R		No	ClinGen gnomAD
rs772001148 CA3586346	16	G>D		No	ClinGen ExAC
CA362371614 rs1391741493	16	G>S		No	ClinGen TOPMed
rs774824237 CA3586347	17	R>G		No	ClinGen ExAC gnomAD
rs1165029746 CA362371620	17	R>K		No	ClinGen TOPMed
CA362372345 rs1233711967	19	G>E		No	ClinGen gnomAD
rs201186641 CA132891745	19	G>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA362372350 rs1233711967	19	G>V		No	ClinGen gnomAD
CA362372395 rs1257503347	22	S>C		No	ClinGen TOPMed gnomAD
rs905273502 CA132891776	23	G>S		No	ClinGen TOPMed gnomAD
CA3586373 rs565183548	24	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA132891781 rs769035149	24	G>S		No	ClinGen Ensembl
rs565183548 CA362372431	24	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs776062892 CA3586374	25	L>F		No	ClinGen ExAC gnomAD
CA362372466 rs1581992259	26	P>L		No	ClinGen Ensembl
rs1433365660 CA362372477	27	R>P		No	ClinGen TOPMed gnomAD
CA362372475 rs1433365660	27	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA132891807 rs947051343	27	R>W		No	ClinGen TOPMed gnomAD
rs761147452 CA3586375	29	C>F		No	ClinGen ExAC TOPMed gnomAD
CA362372521 rs1433445414	30	S>C		No	ClinGen gnomAD
CA362372522 rs1433445414	30	S>F		No	ClinGen gnomAD
rs529356820 CA132891828	31	V>F		No	ClinGen TOPMed gnomAD
rs529356820 CA362372523	31	V>I		No	ClinGen TOPMed gnomAD
CA362372526 rs529356820	31	V>L		No	ClinGen TOPMed gnomAD
rs1043221348 CA132891835	32	F>I		No	ClinGen TOPMed
rs905599026 CA132891840	33	H>P		No	ClinGen Ensembl
CA362372563 rs1581992316	33	H>Y		No	ClinGen Ensembl
rs1296346393 CA362372604	35	F>Y		No	ClinGen gnomAD
CA3586380 rs765468044	36	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362372638 rs1382067342	37	A>T		No	ClinGen TOPMed
rs1303207740 CA362372680	39	L>H		No	ClinGen gnomAD
rs750694395 CA3586381	40	S>L		No	ClinGen ExAC TOPMed gnomAD
CA3586385 rs370483831	43	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs754884091 CA3586386	44	F>L		No	ClinGen ExAC gnomAD
rs747688432 CA362372782	45	S>C		No	ClinGen ExAC TOPMed gnomAD
rs747688432 CA3586389	45	S>F		No	ClinGen ExAC TOPMed gnomAD
rs780778092 CA3586387	45	S>P		No	ClinGen ExAC gnomAD
CA3586388 rs747688432	45	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA132891920 rs896408238	47	L>F		No	ClinGen TOPMed gnomAD
CA132891931 rs895605058	47	L>R		No	ClinGen Ensembl
CA362372839 rs1157044694	48	W>*		No	ClinGen gnomAD
CA362372823 rs1347902871	48	W>R		No	ClinGen TOPMed gnomAD
rs1467328242 CA362372850	49	L>P		No	ClinGen TOPMed
CA362372913 rs1214450480	52	S>R		No	ClinGen gnomAD
rs772473695 CA3586393	54	S>A		No	ClinGen ExAC gnomAD
CA132891947 rs1025566307	54	S>C		No	ClinGen TOPMed gnomAD
rs1309659292 CA362372989	56	D>E		No	ClinGen TOPMed gnomAD
CA362372981 rs761181492	56	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3586394 rs775736128	56	D>N		No	ClinGen ExAC gnomAD
TCGA novel	56	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761181492 CA3586395	56	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1268996736 CA362372994	57	V>M		No	ClinGen TOPMed
TCGA novel	58	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1066430 CA362373032 rs1306108840	59	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1331979413 CA362373029	59	R>W		No	ClinGen TOPMed
rs776644528 CA3586397	60	A>S		No	ClinGen ExAC gnomAD
rs761859872 CA3586398	61	V>G		No	ClinGen ExAC gnomAD
CA3586401 rs773416080	63	G>E		No	ClinGen ExAC TOPMed gnomAD
rs773416080 CA3586400	63	G>V		No	ClinGen ExAC TOPMed gnomAD
rs766139567 CA3586402	65	G>E		No	ClinGen ExAC gnomAD
CA3586403 rs751313034	67	E>K		No	ClinGen ExAC gnomAD
CA362373148 rs1213495069	68	T>I		No	ClinGen gnomAD
CA362373157 rs1239119479	69	S>A		No	ClinGen gnomAD
CA3586404 rs754899566	69	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1581992501 CA362373178	70	G>V		No	ClinGen Ensembl
rs767582708 CA3586405	71	P>H		No	ClinGen ExAC
rs752728024 CA362373197	72	P>A		No	ClinGen ExAC TOPMed gnomAD
rs145261025 CA3586407	72	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs752728024 CA3586406	72	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1166915437 CA362373212	73	R>C		No	ClinGen gnomAD
CA3586408 rs777486041	73	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1195302755 CA362373226	74	A>T		No	ClinGen TOPMed
CA132892026 rs563580440	76	P>S		No	ClinGen 1000Genomes gnomAD
CA132892037 rs201859856	77	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs201859856 CA3586413	77	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1229541593 CA362373295	77	P>S		No	ClinGen gnomAD
rs1199340266 CA362373340	79	P>Q		No	ClinGen TOPMed
rs777092684 CA3586415	80	P>L		No	ClinGen ExAC TOPMed gnomAD
CA362373356 rs1270985250	80	P>T		No	ClinGen TOPMed
CA3586417 rs549224727	81	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1483839796 CA362373399	82	E>G		No	ClinGen gnomAD
CA362373389 rs1232810965	82	E>K		No	ClinGen gnomAD
rs964420687 CA132892094	83	H>D		No	ClinGen TOPMed
rs763167963 CA362373428	84	W>*		No	ClinGen ExAC TOPMed gnomAD
rs763167963 CA3586420	84	W>S		No	ClinGen ExAC TOPMed gnomAD
rs975191694 CA132892099	85	E>G		No	ClinGen TOPMed gnomAD
CA3586423 rs759226446	86	E>D		No	ClinGen ExAC gnomAD
CA3586422 rs766536438	86	E>K		No	ClinGen ExAC TOPMed gnomAD
rs766536438 CA3586421	86	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3586424 rs767458092	87	D>N		No	ClinGen ExAC gnomAD
rs752670843 CA3586425	89	S>F		No	ClinGen ExAC gnomAD
RCV000485451 rs1064796683	90	W>missing		No	ClinVar dbSNP
CA362373552 rs1347089087	90	W>L		No	ClinGen gnomAD
rs371055397 CA132892118	91	G>D		No	ClinGen ESP ExAC TOPMed
CA362373565 rs1310598945	91	G>R		No	ClinGen gnomAD
rs371055397 CA3586427	91	G>V		No	ClinGen ESP ExAC TOPMed
rs756885469 CA3586430	92	P>A		No	ClinGen ExAC gnomAD
CA362373594 rs778409854	92	P>H		No	ClinGen ExAC TOPMed gnomAD
CA362373597 rs778409854	92	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778409854 CA3586431	92	P>R		No	ClinGen ExAC TOPMed gnomAD
rs756885469 CA362373590	92	P>S		No	ClinGen ExAC gnomAD
rs142476892 CA132892136	93	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA132892145 rs781594235	93	H>Q		No	ClinGen ExAC gnomAD
rs879255634	93	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1436366 rs926736424 CA362373629	94	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs926736424 CA132892147	94	R>G		No	ClinGen TOPMed
rs369809779 CA132892157	94	R>H		No	ClinGen ESP gnomAD
CA132892167 rs369809779	94	R>L		No	ClinGen ESP gnomAD
rs1212818388 CA362373643	95	L>Q		No	ClinGen gnomAD
rs770290127 CA3586436	97	V>G		No	ClinGen ExAC
CA362373686 rs1158245018	100	P>S		No	ClinGen Ensembl
CA362373709 rs1356022263	101	F>L		No	ClinGen TOPMed
CA362373693 rs1581992715	101	F>L		No	ClinGen Ensembl
rs201504625 CA3586440	102	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3586441 rs759898367	102	R>H		No	ClinGen ExAC TOPMed gnomAD
CA362373737 rs1416146236 COSM3697167	103	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
COSM84949 CA3586442 rs771938935	104	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs140590638 CA132892216	104	R>H		No	ClinGen ESP TOPMed gnomAD
rs140590638 CA132892217	104	R>L		No	ClinGen ESP TOPMed gnomAD
CA362373827 RCV000493088 rs1131691521	105	F>V		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	106	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1324340345 CA362373890	107	E>G		No	ClinGen gnomAD
RCV000276634 CA3586444 rs760654517	110	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1237217428 CA362373988	112	V>L		No	ClinGen TOPMed gnomAD
rs1237217428 CA362373983	112	V>M		No	ClinGen TOPMed gnomAD
rs138496419 CA3586445	113	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3586447 rs753864389	114	H>D		No	ClinGen ExAC gnomAD
CA3586446 rs753864389	114	H>N		No	ClinGen ExAC gnomAD
CA132892278 rs201730170	114	H>R		No	ClinGen TOPMed gnomAD
rs753864389 CA362374026	114	H>Y		No	ClinGen ExAC gnomAD
CA132892284 rs538990996	115	M>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA362374050 rs1186498021	115	M>T		No	ClinGen TOPMed
CA3586448 rs571496197	115	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750028904 CA3586449	116	R>C		No	ClinGen ExAC TOPMed gnomAD
CA362374064 rs750028904	116	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	116	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362374090 rs1247138814	117	R>H		No	ClinGen gnomAD
rs1191457286 CA362374101	118	F>L		No	ClinGen gnomAD
CA362374102 rs1218335048	119	L>M		No	ClinGen TOPMed
rs1272484534 CA362374106	119	L>R		No	ClinGen gnomAD
CA3586451 rs781467817	121	R>T		No	ClinGen ExAC TOPMed gnomAD
rs201281389 CA362374131	122	K>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201281389 CA362374128	122	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201281389 CA3586452	122	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756560466 CA362374197	125	R>G		No	ClinGen ExAC gnomAD
CA3586455 rs568792091	125	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs756560466 CA3586453	125	R>W		No	ClinGen ExAC gnomAD
CA3586456 rs770908135	127	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA362374267 rs1332406943	128	I>S		No	ClinGen gnomAD
rs1332406943 CA362374270	128	I>T		No	ClinGen gnomAD
CA3586457 rs779066399	129	Y>S		No	ClinGen ExAC gnomAD
rs997197290 CA132892324	130	V>A		No	ClinGen TOPMed
CA362374345 rs1231424511	131	L>R		No	ClinGen TOPMed
CA132892359 rs1030828763	135	D>E		No	ClinGen gnomAD
TCGA novel	135	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768536523 CA3586463	136	H>L		No	ClinGen ExAC gnomAD
rs760524061 CA3586462	136	H>Y		No	ClinGen ExAC gnomAD
rs1049518256 CA132894578	141	R>Q		No	ClinGen TOPMed gnomAD
CA362374846 rs1433359702	142	A>V		No	ClinGen gnomAD
rs1173138636 CA362374851	143	A>T		No	ClinGen gnomAD
rs1345839076 CA362374865	143	A>V		No	ClinGen gnomAD
CA3586499 rs747996469	144	L>F		No	ClinGen ExAC gnomAD
CA132894613 rs866139966	144	L>P		No	ClinGen Ensembl
CA362374902 rs1561815397	145	I>M		No	ClinGen Ensembl
rs749287395 CA3586502	147	V>M		No	ClinGen ExAC gnomAD
rs1411210031 CA362374977	149	F>L		No	ClinGen TOPMed
CA362375008 rs1305292304	151	E>D		No	ClinGen gnomAD
rs373861088 CA3586503	152	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA362375020 rs773857616	152	S>N		No	ClinGen ExAC gnomAD
rs773857616 CA3586504	152	S>T		No	ClinGen ExAC gnomAD
CA3586505 rs759074485	155	S>G		No	ClinGen ExAC TOPMed gnomAD
CA3586506 COSM1436368 rs145129446	156	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs145129446 CA362375096	156	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362375138 rs1259800618	158	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	159	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750954761 CA3586510	161	M>I		No	ClinGen ExAC gnomAD
CA3586509 rs762207140	161	M>L		No	ClinGen ExAC gnomAD
CA3586508 rs762207140	161	M>V		No	ClinGen ExAC gnomAD
rs370142626 CA362375222	162	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1338444955 CA362375217	162	H>R		No	ClinGen gnomAD
rs375801425 CA132894688	162	H>Y		No	ClinGen ESP TOPMed
rs542850594 CA3586512	163	D>N		No	ClinGen ExAC gnomAD
rs1281774679 CA362375265	164	V>A		No	ClinGen TOPMed
CA3586514 rs755103584	164	V>I		No	ClinGen ExAC TOPMed gnomAD
rs755931741 CA3586517	167	L>F		No	ClinGen ExAC gnomAD
CA3586518 rs201868342	171	E>K		No	ClinGen ExAC TOPMed gnomAD
rs201868342 CA132894748	171	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3586519 rs749164672	172	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775207945 CA362375451	174	D>E		No	ClinGen ExAC TOPMed gnomAD
rs532945440 CA3586523	174	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532945440 CA3586522	174	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3586525 rs760305901	175	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	179	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3586526 rs201942042	180	A>T		No	ClinGen 1000Genomes ExAC
CA362375544 rs1242031806	180	A>V		No	ClinGen gnomAD
rs371253299 CA362375610 CA3586528	184	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs137913131 CA3586530	185	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3586532 rs752949794	188	P>A		No	ClinGen ExAC gnomAD
rs149484064 RCV000439328 CA3586534	188	P>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3586537 rs757093697	195	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA362375821 rs1436059549	196	Y>*		No	ClinGen TOPMed gnomAD
rs778791647 CA3586538	196	Y>C		No	ClinGen ExAC gnomAD
rs972752597 CA132894849	196	Y>N		No	ClinGen TOPMed
CA3586541 rs560198890	199	Y>*		No	ClinGen ExAC gnomAD
CA132894864 rs764627401	199	Y>C		No	ClinGen gnomAD
TCGA novel	199	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460743738 CA362375895	200	V>A		No	ClinGen gnomAD
rs1460743738 CA362375893	200	V>D		No	ClinGen gnomAD
rs1460743738 CA362375897	200	V>G		No	ClinGen gnomAD
CA3586544 rs773659654	202	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1448197445 CA362375915	203	I>L		No	ClinGen TOPMed
CA362375918 rs1355526835	203	I>T		No	ClinGen gnomAD
rs771458628 CA3586546	205	L>P		No	ClinGen ExAC gnomAD
CA3586545 rs763383177	205	L>V		No	ClinGen ExAC
rs774917613 CA3586547	207	S>F		No	ClinGen ExAC gnomAD
TCGA novel	208	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3586548 rs141168189	208	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA362375978 rs1362433836	209	Q>R		No	ClinGen gnomAD
CA3586550 rs752722346	210	H>L		No	ClinGen ExAC TOPMed gnomAD
rs760839750 CA3586551	210	H>Q		No	ClinGen ExAC
CA362376002 rs752722346	210	H>R		No	ClinGen ExAC TOPMed gnomAD
CA132894938 rs1041232589	210	H>Y		No	ClinGen TOPMed
rs1203004554 CA362376012	211	Y>H		No	ClinGen gnomAD
CA3586553 rs754100174	212	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs41284943 CA3586552	212	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1205721014 CA362376367	217	M>I		No	ClinGen gnomAD
CA3586619 rs781202877	220	R>H		No	ClinGen ExAC gnomAD
rs199905021 CA3586618	220	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1191651385 CA362376402	222	W>C		No	ClinGen gnomAD
rs1469803794 CA362376396	222	W>R		No	ClinGen gnomAD
CA362376404 rs1401907822	223	G>S		No	ClinGen TOPMed
CA362376417 rs1394017597	224	W>C		No	ClinGen gnomAD
rs773298306 CA3586624	225	G>D		No	ClinGen ExAC gnomAD
rs769954044 CA3586622	225	G>S		No	ClinGen ExAC gnomAD
rs773298306 CA3586623	225	G>V		No	ClinGen ExAC gnomAD
CA3586626 rs774293088	226	R>H		No	ClinGen ExAC TOPMed gnomAD
rs774293088 CA362376424	226	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3586630 rs145226749	227	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362376426 rs145226749	227	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3586634 rs756942664	229	D>E		No	ClinGen ExAC TOPMed gnomAD
rs753374573 CA3586633	229	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362376442 rs753374573	229	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA362376448 rs751946151	230	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1026522102 CA132896335	230	E>D		No	ClinGen Ensembl
rs751946151 CA3586635	230	E>K		No	ClinGen ExAC TOPMed gnomAD
CA362376455 rs1348858046	231	F>L		No	ClinGen TOPMed gnomAD
rs1348858046 CA362376454	231	F>V		No	ClinGen TOPMed gnomAD
CA3586638 rs780268052	233	R>L		No	ClinGen ExAC TOPMed gnomAD
rs780268052 CA3586637	233	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3586639 rs139730903	234	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs777921880 CA3586640	234	R>H		No	ClinGen ExAC gnomAD
rs1460892986 CA362376489	235	I>M		No	ClinGen gnomAD
CA3586641 rs749404371	235	I>V		No	ClinGen ExAC gnomAD
CA362376522 rs1438286552	238	A>S		No	ClinGen gnomAD
rs1183410452 CA362376533	239	G>R		No	ClinGen gnomAD
rs1561816183 CA362376571	241	Q>R		No	ClinGen Ensembl
rs1201083642 CA362376628	242	L>H		No	ClinGen TOPMed
rs1484513314 CA362376635	243	F>S		No	ClinGen gnomAD
CA362376646 rs1199510691	244	R>C		No	ClinGen TOPMed gnomAD
CA3586671 rs567512466	244	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs964225881 CA132896663	245	P>L		No	ClinGen TOPMed
rs1429482924 CA362376655	245	P>S		No	ClinGen TOPMed gnomAD
CA3586672 rs145692398	246	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1366319631 CA362376690	248	I>V		No	ClinGen TOPMed
CA362376741 rs1433166971	251	G>A		No	ClinGen gnomAD
rs1377342756 CA362376733	251	G>R		No	ClinGen TOPMed gnomAD
CA362376742 rs1433166971	251	G>V		No	ClinGen gnomAD
CA362376759 rs1178512025	252	Y>*		No	ClinGen Ensembl
CA3586676 rs762603211	252	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs762603211 CA362376753	252	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA3586677 rs767799114	253	K>E		No	ClinGen ExAC gnomAD
rs756527433 CA3586679	256	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3586680 rs764639019	256	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs729459 CA362376875	259	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA132896775 rs372020142	260	D>G		No	ClinGen ESP
rs1231800939 CA362376882	260	D>N		No	ClinGen gnomAD
CA362376906 rs1180658713	261	P>Q		No	ClinGen TOPMed
TCGA novel	262	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162744165 CA362376912	262	A>T		No	ClinGen gnomAD
rs375644526 CA3586688	264	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000522895 CA3586686 rs779147014	264	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA362376953 rs779668675	265	K>E		No	ClinGen ExAC gnomAD
CA3586689 rs779668675	265	K>Q		No	ClinGen ExAC gnomAD
rs926544819 CA132896860	266	R>K		No	ClinGen TOPMed gnomAD
CA362376965 rs1484463352	267	D>Y		No	ClinGen TOPMed
CA362376983 rs1207602359	269	K>E		No	ClinGen TOPMed
rs1311184017 CA362376992	269	K>N		No	ClinGen TOPMed
CA3586690 rs369752734	270	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs369752734 CA132896881	270	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143680535 CA132896883	271	I>L		No	ClinGen ESP TOPMed
CA362377026 rs146632722	272	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA362377041 rs1318350107	273	A>D		No	ClinGen gnomAD
rs538600624 COSM1184348 CA3586693	273	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1387618617 CA362377069	275	K>E		No	ClinGen gnomAD
TCGA novel	275	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362377085 rs1441626948	276	Q>*		No	ClinGen gnomAD
rs1481659687 CA362377195	277	E>K		No	ClinGen TOPMed gnomAD
CA362377200 rs1180026816	277	E>V		No	ClinGen TOPMed gnomAD
rs1051398582 CA132897480	278	Q>*		No	ClinGen TOPMed
rs1251388308 CA362377248	280	K>Q		No	ClinGen gnomAD
CA362377271 rs1475633783	281	V>G		No	ClinGen gnomAD
rs762364125 CA3586719	283	R>K		No	ClinGen ExAC gnomAD
rs900615364 CA132897503	284	E>G		No	ClinGen Ensembl
rs765821414 CA3586720	284	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1306832698 CA362377348	286	G>D		No	ClinGen gnomAD
rs751011692 CA3586721	286	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1375726829 CA362377383	289	T>A		No	ClinGen gnomAD
rs766423518 CA3586723	290	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3586724 rs751742436	291	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1399598109 CA362377439	292	Y>*		No	ClinGen TOPMed
rs1581997421 CA362377427	292	Y>H		No	ClinGen Ensembl
rs371684746 CA3586727	293	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs777656195 CA3586729	296	S>F		No	ClinGen ExAC TOPMed gnomAD
CA3586731 rs749289544	297	R>C		No	ClinGen ExAC TOPMed gnomAD
rs374994284 CA3586732	297	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374994284 CA362377506	297	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs749289544 CA3586730	297	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3586733 rs745494614	298	T>I		No	ClinGen ExAC gnomAD
rs771646034 CA3586734	299	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	303	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145082497 CA3586741	304	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs774322603 CA3586742	305	A>D		No	ClinGen ExAC gnomAD
TCGA novel	305	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331795801 CA362377596	306	P>A		No	ClinGen gnomAD
CA3586746 rs755898319	307	C>Y		No	ClinGen ExAC gnomAD
CA362377618 rs1447784667	308	T>A		No	ClinGen gnomAD
CA3586747 rs781124432	308	T>S		No	ClinGen ExAC gnomAD
rs753742901 CA3586748	310	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1220841590 CA362377650	312	I>F		No	ClinGen TOPMed
rs778439107 CA3586750	313	M>I		No	ClinGen ExAC gnomAD
rs757174910 CA362377660	313	M>R		No	ClinGen ExAC gnomAD
rs757174910 CA3586749	313	M>T		No	ClinGen ExAC gnomAD
rs1024596270 CA132897744	314	L>W		No	ClinGen Ensembl
rs745351199 CA3586751	315	D>A		No	ClinGen ExAC gnomAD
CA3586752 rs74448984	319	T>A		No	ClinGen ExAC gnomAD
CA132897759 rs74448984	319	T>P		No	ClinGen ExAC gnomAD
CA3586755 rs770222232	320	A>G		No	ClinGen ExAC gnomAD
TCGA novel	320	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773712777 CA3586756	321	T>I		No	ClinGen ExAC gnomAD
CA3586757 rs749760731	322	P>A		No	ClinGen ExAC gnomAD
CA3586760 rs759502234	323	W>*		No	ClinGen ExAC gnomAD
CA3586759 rs774970799	323	W>R		No	ClinGen ExAC gnomAD
rs767650033 CA3586761	324	C>S		No	ClinGen ExAC gnomAD
rs1170239966 CA362377834	326	F>V		No	ClinGen gnomAD

1 associated diseases with Q9UBV7

[MIM: 130070]: Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1)

A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome. {ECO:0000269|PubMed:10506123}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome. {ECO:0000269|PubMed:10506123}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q9UBV7

Type	Name	Position	InterPro Accession
domain	Galactosyltransferase, C-terminal	182 - 257	IPR027791
domain	Galactosyltransferase, N-terminal	84 - 175	IPR027995

Functions

		Description
EC Number	2.4.1.133	Hexosyltransferases
Subcellular Localization	Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein	Cis cisternae of Golgi stack
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 cisterna membrane	The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex.
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.

4 GO annotations of molecular function

Name	Definition
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	Catalysis of the reaction: UDP-galactose + N-acetyl-beta-D-glucosaminylglycopeptide = UDP + beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminylglycopeptide.
galactosyltransferase activity	Catalysis of the transfer of a galactosyl group to an acceptor molecule, typically another carbohydrate or a lipid.
manganese ion binding	Binding to a manganese ion (Mn).
xylosylprotein 4-beta-galactosyltransferase activity	Catalysis of the reaction: UDP-galactose + O-beta-D-xylosylprotein = UDP + 4-beta-D-galactosyl-O-beta-D-xylosylprotein.

10 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.
glycosaminoglycan biosynthetic process	The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars.
glycosaminoglycan metabolic process	The chemical reactions and pathways involving glycosaminoglycans, any of a group of polysaccharides that contain amino sugars.
glycosylation	The covalent attachment and further modification of carbohydrate residues to a substrate molecule.
negative regulation of fibroblast proliferation	Any process that stops, prevents, or reduces the frequency, rate or extent of multiplication or reproduction of fibroblast cells.
protein modification process	The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).
protein N-linked glycosylation	A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan.
proteoglycan biosynthetic process	The chemical reactions and pathways resulting in the formation of proteoglycans, any glycoprotein in which the carbohydrate units are glycosaminoglycans.
proteoglycan metabolic process	The chemical reactions and pathways involving proteoglycans, any glycoprotein in which the carbohydrate units are glycosaminoglycans.
supramolecular fiber organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a supramolecular fiber, a polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9UBX8	B4GALT6	Beta-1,4-galactosyltransferase 6	Homo sapiens (Human)	PR
Q8R087	B4galt7	Beta-1,4-galactosyltransferase 7	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MFPSRRKAAQ	LPWEDGRSGL	LSGGLPRKCS	VFHLFVACLS	LGFFSLLWLQ	LSCSGDVARA
70	80	90	100	110	120
VRGQGQETSG	PPRACPPEPP	PEHWEEDASW	GPHRLAVLVP	FRERFEELLV	FVPHMRRFLS
130	140	150	160	170	180
RKKIRHHIYV	LNQVDHFRFN	RAALINVGFL	ESSNSTDYIA	MHDVDLLPLN	EELDYGFPEA
190	200	210	220	230	240
GPFHVASPEL	HPLYHYKTYV	GGILLLSKQH	YRLCNGMSNR	FWGWGREDDE	FYRRIKGAGL
250	260	270	280	290	300
QLFRPSGITT	GYKTFRHLHD	PAWRKRDQKR	IAAQKQEQFK	VDREGGLNTV	KYHVASRTAL
310	320
SVGGAPCTVL	NIMLDCDKTA	TPWCTFS