Q9UBX8
PR
Gene name |
B4GALT6 |
Protein name |
Beta-1,4-galactosyltransferase 6 |
Names |
Beta-1,4-GalTase 6, Beta4Gal-T6, b4Gal-T6, Glucosylceramide beta-1,4-galactosyltransferase, Lactosylceramide synthase, LacCer synthase, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6, UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase, UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9331 |
EC number |
2.4.1.274: Hexosyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9UBX8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UBX8-F1 | Predicted | AlphaFoldDB |
258 variants for Q9UBX8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs763409374 CA8928865 |
2 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA8928864 rs143211727 |
4 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1251410870 CA402246823 |
5 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8928863 rs764748373 |
5 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA402246756 rs1203268610 |
9 | R>G | No |
ClinGen gnomAD |
|
|
rs758974344 CA8928862 |
9 | R>L | No |
ClinGen ExAC |
|
|
rs1598940366 CA402246727 |
10 | V>G | No |
ClinGen Ensembl |
|
|
CA8928861 rs776343053 |
10 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371323148 CA8928860 |
12 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 12 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8928859 rs538228628 |
15 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs889120917 CA298289167 |
16 | L>F | No |
ClinGen TOPMed |
|
|
rs976297974 CA298289166 |
18 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8928858 rs773183141 |
19 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA402246539 rs1413191387 |
19 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773183141 CA402246555 |
19 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8928857 rs139096016 |
20 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 23 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748057535 CA8928856 |
23 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA402246450 rs1173233546 |
23 | S>T | No |
ClinGen TOPMed |
|
|
rs748057535 CA402246444 |
23 | S>Y | No |
ClinGen ExAC TOPMed |
|
|
rs943158474 CA298289163 |
24 | L>F | No |
ClinGen TOPMed |
|
|
rs1278070224 CA402246418 |
25 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 25 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8928853 rs756210082 |
26 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs758575753 CA8928851 |
27 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758575753 CA298289162 |
27 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577554431 CA8928850 |
28 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577554431 CA402246385 |
28 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778061781 CA8928848 |
30 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 30 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402246326 rs1214277270 |
32 | I>T | No |
ClinGen gnomAD |
|
|
rs35210437 RCV000966257 CA8928847 |
32 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1333818169 CA402246317 |
33 | Y>C | No |
ClinGen gnomAD |
|
|
CA402246308 rs1352834181 |
34 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA402246289 rs1318948558 |
36 | P>S | No |
ClinGen gnomAD |
|
|
rs1287873236 CA402155951 |
44 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs146312568 CA8928819 |
45 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750092987 CA8928817 |
48 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 49 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761646121 CA8928816 |
49 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8928815 COSM218553 rs761643392 |
60 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA402155827 rs1195242041 |
62 | H>Y | No |
ClinGen gnomAD |
|
|
CA402155818 rs1260806952 |
63 | M>K | No |
ClinGen gnomAD |
|
|
rs768527976 COSM1740426 CA8928813 |
64 | I>F | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs762749156 CA8928812 |
66 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 68 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8928811 rs775418505 |
69 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347265609 CA402155762 |
71 | N>S | No |
ClinGen gnomAD |
|
|
rs530028563 CA8928810 |
72 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1230287385 CA402155749 |
73 | T>A | No |
ClinGen gnomAD |
|
|
rs1327576786 CA402155746 |
73 | T>M | No |
ClinGen gnomAD |
|
|
rs372526381 CA8928809 |
74 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8928808 rs777959142 |
75 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs955349596 CA297739615 |
75 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs115188761 CA8928807 |
76 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402155386 rs1405418865 |
78 | D>E | No |
ClinGen TOPMed |
|
|
rs921680655 CA297732512 |
80 | P>R | No |
ClinGen TOPMed |
|
|
CA402155374 COSM1711171 rs1327609253 |
80 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs756803714 CA8928762 |
81 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8928761 rs541497223 |
81 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8928760 rs763875463 |
83 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 85 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8928759 rs758178797 |
87 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290292264 CA402155304 |
90 | V>G | No |
ClinGen TOPMed |
|
|
rs765129509 CA402155299 |
91 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs765129509 CA8928757 |
91 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs983757056 CA297732439 |
94 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM1740442 CA8928756 rs574354534 |
94 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA297732431 rs903338182 |
96 | L>F | No |
ClinGen Ensembl |
|
|
rs150412311 CA8928754 |
97 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402155263 rs150412311 |
97 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774420565 CA8928752 |
98 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8928751 rs769044404 |
99 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA402155230 rs1160517830 |
102 | Y>C | No |
ClinGen gnomAD |
|
|
CA402155200 rs770303733 |
107 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770303733 CA8928748 |
107 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8928749 rs770303733 |
107 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402155194 rs1363321757 |
108 | C>G | No |
ClinGen gnomAD |
|
|
rs1567973612 CA402155164 |
112 | L>Q | No |
ClinGen Ensembl |
|
|
rs746319501 CA8928747 |
113 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8928746 rs781724599 |
114 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA297732332 rs914225321 |
116 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 118 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207553598 CA402153436 |
119 | L>F | No |
ClinGen TOPMed |
|
|
rs1207553598 CA402153441 |
119 | L>I | No |
ClinGen TOPMed |
|
|
rs760012180 CA8928725 |
120 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776990971 CA8928724 |
122 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8928723 rs771517633 |
123 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347974471 CA402153355 |
124 | S>G | No |
ClinGen gnomAD |
|
|
CA402153348 rs1279471360 |
124 | S>N | No |
ClinGen gnomAD |
|
|
CA402153323 rs1270519323 |
125 | E>D | No |
ClinGen gnomAD |
|
|
rs373090639 CA8928721 COSM1184347 |
125 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1429850006 CA402153318 |
126 | V>I | No |
ClinGen gnomAD |
|
|
rs1340108511 CA402153303 |
127 | S>G | No |
ClinGen gnomAD |
|
|
rs771596136 CA8928720 |
129 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs747742960 CA8928719 |
130 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA402153202 rs1445185396 |
132 | H>L | No |
ClinGen TOPMed |
|
|
rs778544529 CA297723521 |
133 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402153183 rs1567966300 |
133 | Q>R | No |
ClinGen Ensembl |
|
|
CA8928715 rs779821972 |
136 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402153113 rs779821972 |
136 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199941208 COSM1388384 CA8928713 |
140 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1260503612 CA402153011 |
140 | D>V | No |
ClinGen gnomAD |
|
|
CA402152994 rs1189664785 |
141 | I>T | No |
ClinGen gnomAD |
|
|
CA297723492 rs1056309124 |
143 | P>A | No |
ClinGen TOPMed |
|
|
rs764209448 CA8928712 |
143 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA402152929 rs1278962933 |
145 | G>D | No |
ClinGen gnomAD |
|
|
CA402152931 rs1278962933 |
145 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763129897 CA8928711 |
146 | H>R | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 146 | H>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939192644 CA297723491 |
147 | W>C | No |
ClinGen TOPMed |
|
|
rs1207460785 CA402152885 |
148 | R>K | No |
ClinGen gnomAD |
|
|
rs926517033 CA297723484 |
148 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 151 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8928708 rs369396189 |
154 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1231136438 CA402152771 |
155 | R>G | No |
ClinGen TOPMed |
|
|
CA8928707 rs145403140 |
157 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA402151167 rs1335707402 |
158 | V>A | No |
ClinGen gnomAD |
|
|
CA402151161 rs1312294233 |
159 | A>S | No |
ClinGen gnomAD |
|
|
rs1187933337 CA402151108 |
162 | I>V | No |
ClinGen TOPMed |
|
|
CA8928695 rs371621631 |
165 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA297720155 rs1056400957 |
166 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8928694 rs180688911 |
167 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402151030 rs180688911 |
167 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402151023 COSM1388382 rs1328338345 |
167 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1328338345 CA402151021 |
167 | R>P | No |
ClinGen gnomAD |
|
|
CA8928693 rs115568058 |
168 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368163743 CA8928692 |
173 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 175 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 175 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408107538 CA402150916 |
177 | H>R | No |
ClinGen gnomAD |
|
|
rs929225470 CA297720150 |
177 | H>Y | No |
ClinGen TOPMed |
|
|
CA8928690 rs199540062 |
179 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 180 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8928689 rs765525965 |
181 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214023755 CA402150838 |
184 | K>T | No |
ClinGen gnomAD |
|
|
CA8928687 rs754031469 |
185 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs915348123 CA297720141 |
186 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1303676 rs1265039087 CA402150806 |
186 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8928686 rs766710771 |
188 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1239597550 CA402150767 |
189 | F>L | No |
ClinGen gnomAD |
|
|
CA402150733 rs760954653 |
190 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8928685 rs760954653 |
190 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402150670 rs1216027815 |
194 | I>V | No |
ClinGen TOPMed |
|
|
CA8928652 rs759374765 |
200 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1344921849 CA402149129 |
202 | F>C | No |
ClinGen gnomAD |
|
|
CA402149103 rs1484637669 |
204 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs776527478 CA8928651 |
205 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA297716611 rs901456078 |
205 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA402149049 rs895863823 |
208 | F>C | No |
ClinGen TOPMed |
|
|
rs895863823 CA297716608 |
208 | F>S | No |
ClinGen TOPMed |
|
|
CA402149033 rs746887661 |
209 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422355352 CA402149038 |
209 | N>S | No |
ClinGen TOPMed |
|
|
CA297716605 rs1040036030 |
211 | G>V | No |
ClinGen TOPMed |
|
|
rs1567958577 CA402149005 |
212 | F>C | No |
ClinGen Ensembl |
|
|
rs1393426662 CA402148997 |
213 | K>Q | No |
ClinGen TOPMed |
|
|
rs768779660 CA8928647 |
215 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA297716560 CA297716564 rs190821754 |
216 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes TOPMed NCI-TCGA |
|
COSM184408 CA8928646 rs749390292 |
216 | M>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA402148924 rs1312951113 |
218 | D>G | No |
ClinGen gnomAD |
|
|
rs879108763 CA297716555 |
219 | S>G | No |
ClinGen Ensembl |
|
|
CA402148885 rs1395003682 |
221 | W>L | No |
ClinGen gnomAD |
|
|
CA402148869 rs1399904040 |
222 | D>G | No |
ClinGen gnomAD |
|
|
rs1170155367 CA402148818 |
225 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA297716545 rs771234493 |
226 | F>L | No |
ClinGen TOPMed |
|
|
CA8928642 rs781475875 |
235 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8928640 rs181651811 |
236 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8928641 rs757620997 |
236 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762503282 CA8928638 |
237 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402148552 rs1441935349 |
237 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs370233035 CA297716501 |
241 | G>E | No |
ClinGen ESP |
|
|
rs759217309 CA8928634 |
241 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs776439295 CA8928633 |
245 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA8928632 rs770786176 |
245 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs370684224 CA297716484 |
247 | R>C | No |
ClinGen ESP |
|
| TCGA novel | 247 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs961906336 CA297716483 |
248 | H>N | No |
ClinGen TOPMed |
|
|
CA8928631 rs760617720 |
251 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs943045028 CA297716482 |
252 | K>Q | No |
ClinGen Ensembl |
|
|
rs1247635597 CA402146899 |
262 | Y>C | No |
ClinGen gnomAD |
|
|
CA8928606 rs769858727 |
263 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 266 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 267 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283752577 CA402146809 |
274 | V>M | No |
ClinGen gnomAD |
|
|
rs1242772806 CA402146795 |
275 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA402146705 rs1236373865 |
279 | K>R | No |
ClinGen gnomAD |
|
|
rs1567956135 CA402146695 |
280 | I>V | No |
ClinGen Ensembl |
|
|
CA8928602 rs747287363 |
281 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8928601 rs549667383 |
285 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1378056260 CA402146557 |
286 | A>T | No |
ClinGen gnomAD |
|
|
rs1277424159 CA402146511 |
288 | W>R | No |
ClinGen TOPMed |
|
|
rs1329499982 CA402146458 |
289 | G>* | No |
ClinGen gnomAD |
|
|
rs1300283261 CA402146450 COSM563513 |
289 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1360005984 TCGA novel CA402146394 |
290 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
| rs1156983701 | 292 | G>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8928598 rs779634049 |
294 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA402146047 rs1172347863 |
300 | R>T | No |
ClinGen gnomAD |
|
|
rs1008300649 CA297713265 |
301 | V>I | No |
ClinGen Ensembl |
|
|
CA297713263 rs748607204 |
303 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs748607204 CA8928582 |
303 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA402145766 rs1171875547 |
304 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA297713262 rs1035864200 |
304 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779544173 CA8928581 |
305 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs755585691 CA8928580 |
308 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402145502 rs1180198163 |
312 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 313 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8928578 rs779649111 |
313 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8928577 rs755650938 |
314 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402145335 rs1217856730 |
318 | Y>* | No |
ClinGen gnomAD |
|
|
CA402145305 rs1412287066 |
319 | K>N | No |
ClinGen TOPMed |
|
|
rs1055514077 CA297713240 |
322 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 322 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 323 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230037848 CA402145064 |
326 | R>G | No |
ClinGen gnomAD |
|
|
CA8928572 rs763907690 |
330 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA402144937 rs763907690 |
330 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1332441165 CA402144815 |
334 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1403166626 CA402144821 |
334 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA402144062 rs1464770128 |
336 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 341 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402143980 rs1437541912 |
342 | K>R | No |
ClinGen gnomAD |
|
|
CA8928556 rs756893651 |
343 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8928555 rs751234543 |
344 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8928554 rs777486671 |
344 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402143949 rs777486671 |
344 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402143913 rs1265095013 |
347 | I>L | No |
ClinGen gnomAD |
|
|
CA402143901 rs375001901 |
347 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1265095013 CA402143910 |
347 | I>V | No |
ClinGen gnomAD |
|
|
rs752627627 CA8928552 |
348 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8928551 rs765279637 |
350 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8928549 rs750560235 |
351 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8928550 rs760651288 |
351 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8928548 rs767528764 |
353 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8928547 rs116094076 |
354 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1598858762 CA402143752 |
358 | K>R | No |
ClinGen Ensembl |
|
|
rs76837639 CA297712635 |
359 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 359 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402143682 rs1291436692 |
363 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1156671433 CA402143674 |
363 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
rs763481426 CA8928544 |
366 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA297712627 rs371220404 |
368 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8928543 rs371220404 |
368 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 369 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770383246 CA8928542 |
373 | M>V | No |
ClinGen ExAC |
|
|
CA402143531 rs1370280282 |
374 | P>A | No |
ClinGen Ensembl |
|
|
COSM987647 CA402143507 rs1432388219 |
377 | A>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1176444088 CA402143509 |
377 | A>S | No |
ClinGen gnomAD |
|
|
CA402143511 rs1176444088 |
377 | A>T | No |
ClinGen gnomAD |
|
|
rs770351981 CA8928539 |
378 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8928538 rs372756128 |
378 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs34683195 CA8928537 VAR_054023 |
379 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs758183089 CA8928536 |
380 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA402143457 rs1485175937 |
382 | Y>C | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9UBX8
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.274 | Hexosyltransferases |
| Subcellular Localization |
|
|
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| galactosyltransferase activity | Catalysis of the transfer of a galactosyl group to an acceptor molecule, typically another carbohydrate or a lipid. |
| metal ion binding | Binding to a metal ion. |
| UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity | Catalysis of the reaction: UDP-D-galactose + a glucosylceramide = a lactosylceramide + uridine-5'-diphosphate. The glucosylceramide has sphinganine as the long chain base. |
9 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. |
| central nervous system myelination | The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of oligodendrocytes in the central nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. |
| central nervous system neuron axonogenesis | Generation of a long process from a neuron whose cell body resides in the central nervous system. The process carries efferent (outgoing) action potentials from the cell body towards target cells. |
| ganglioside biosynthetic process via lactosylceramide | The chemical reactions and pathways resulting in the formation of gangliosides that begins with the formation of lactosylceramides, Gal-beta-(1->4)-Glc-beta-(1->1') ceramides, any compound formed by the replacement of the glycosidic C1 hydroxyl group of lactose by a ceramide group. |
| glycosphingolipid biosynthetic process | The chemical reactions and pathways resulting in the formation of glycosphingolipid, a compound with residues of sphingoid and at least one monosaccharide. |
| glycosylation | The covalent attachment and further modification of carbohydrate residues to a substrate molecule. |
| lactosylceramide biosynthetic process | The chemical reactions and pathways resulting in the formation of lactosylceramides, Gal-beta-(1->4)-Glc-beta(1->1') ceramides, any compound formed by the replacement of the glycosidic C1 hydroxyl group of lactose by a ceramide group. They are the precursors of both gangliosides and globosides. |
| neuron maturation | A developmental process, independent of morphogenetic (shape) change, that is required for a neuron to attain its fully functional state. |
| 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 |
|---|---|---|---|---|
| Q9UBV7 | B4GALT7 | Beta-1,4-galactosyltransferase 7 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSVLRRMMRV | SNRSLLAFIF | FFSLSSSCLY | FIYVAPGIAN | TYLFMVQARG | IMLRENVKTI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GHMIRLYTNK | NSTLNGTDYP | EGNNSSDYLV | QTTTYLPENF | TYSPYLPCPE | KLPYMRGFLN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VNVSEVSFDE | IHQLFSKDLD | IEPGGHWRPK | DCKPRWKVAV | LIPFRNRHEH | LPIFFLHLIP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MLQKQRLEFA | FYVIEQTGTQ | PFNRAMLFNV | GFKEAMKDSV | WDCVIFHDVD | HLPENDRNYY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GCGEMPRHFA | AKLDKYMYIL | PYKEFFGGVS | GLTVEQFRKI | NGFPNAFWGW | GGEDDDLWNR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VHYAGYNVTR | PEGDLGKYKS | IPHHHRGEVQ | FLGRYKLLRY | SKERQYIDGL | NNLIYRPKIL |
| 370 | 380 | ||||
| VDRLYTNISV | NLMPELAPIE | DY |