O43505
PR
Gene name |
B4GAT1 |
Protein name |
Beta-1,4-glucuronyltransferase 1 |
Names |
I-beta-1,3-N-acetylglucosaminyltransferase, iGnT, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase, Poly-N-acetyllactosamine extension enzyme, UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11041 |
EC number |
|
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 O43505
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O43505-F1 | Predicted | AlphaFoldDB |
335 variants for O43505
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6120613 rs767082700 RCV000687619 |
13 | Q>* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs531686913 RCV000874870 CA6120596 |
51 | P>L | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA381418981 rs1272704626 RCV001319006 |
51 | P>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001242303 rs1000733603 CA224043872 |
53 | P>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000651511 CA381418949 rs1555016653 |
57 | D>A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555016650 CA381418940 RCV000541473 |
58 | Q>R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002544453 CA6120591 rs529539963 |
62 | Q>R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001088666 RCV000484662 CA6120589 rs765114036 |
66 | A>T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6120585 rs746966446 RCV000651512 |
74 | D>N | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1465193578 RCV001319007 CA381418845 |
75 | A>T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000823196 RCV000488914 CA381418838 rs1085307691 |
76 | S>G | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000696647 rs1332907515 CA381418721 |
93 | N>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001585656 rs201892419 CA6120571 RCV000705377 |
119 | P>T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000658418 CA381418516 RCV001295240 rs1161795181 |
126 | A>V | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA381418440 rs1565209689 RCV000701958 |
139 | A>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6120560 CA6120559 RCV000699983 rs374533716 RCV001571634 CA381418367 |
149 | M>I | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000529102 rs1555016589 CA381418343 |
154 | A>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381418287 RCV000704142 rs1565209634 |
162 | R>H | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001321329 CA6120548 rs767498508 |
171 | R>P | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000822074 CA381418230 rs761732914 |
172 | E>Q | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000701209 CA6120542 rs771427950 |
174 | G>V | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000651510 CA6120534 RCV002531978 rs377415983 |
194 | Q>H | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000651509 CA6120523 rs113570160 |
222 | Y>C | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs774850290 CA381417871 RCV000703778 |
230 | M>V | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs768060657 RCV001057108 CA6120518 |
233 | S>R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1379626331 RCV001303516 |
250 | W>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs35429253 CA6120511 RCV001559640 RCV000695490 VAR_025019 RCV002532305 |
253 | T>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001053581 rs201440245 CA6120509 |
258 | P>A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1319732212 RCV001307363 CA381417674 |
260 | F>L | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinVar dbSNP ClinGen TOPMed gnomAD |
|
rs1455459346 CA381417637 RCV001316786 COSM930724 |
266 | R>C | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000162167 RCV000417196 rs730882237 |
274 | E>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217828 rs1855220609 |
279 | Y>H | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6120496 RCV001243288 rs372380407 |
299 | T>A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555016420 RCV000543072 CA381417226 |
327 | P>Q | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001766742 CA6120488 RCV000822257 rs368961025 |
328 | F>L | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6120482 rs775935595 RCV001060801 |
332 | G>R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA381417167 rs1555016408 RCV000548189 |
337 | T>S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216327 rs1441553616 |
340 | E>K | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770685607 CA6120478 RCV000803643 |
341 | R>H | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10581311 RCV001243362 RCV000224604 rs878853035 |
356 | L>P | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs898632587 RCV001210449 CA224043185 |
366 | L>M | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1012499887 RCV000686916 CA16619379 RCV000483718 |
379 | A>G | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs143223962 CA6120440 RCV000828148 RCV001079253 |
382 | F>L | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001547213 RCV000043695 CA045585 rs397509397 VAR_069989 |
390 | N>D | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 MDDGA13; no effect on Golgi localization; loss of beta-1,4-glucuronyltransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs397509396 CA045574 RCV000043695 RCV001731544 VAR_069990 |
406 | A>V | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 MDDGA13; no effect on Golgi localization; loss of beta-1,4-glucuronyltransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA381419294 rs1353871985 |
2 | Q>H | No |
ClinGen TOPMed |
|
|
rs1331744240 CA381419287 |
3 | M>I | No |
ClinGen gnomAD |
|
|
CA381419292 rs1227026352 |
3 | M>L | No |
ClinGen gnomAD |
|
|
rs766729777 CA6120616 |
5 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430394244 CA381419278 |
5 | Y>N | No |
ClinGen TOPMed |
|
|
CA381419266 rs1363212888 |
6 | A>V | No |
ClinGen TOPMed |
|
|
rs1336362171 CA381419255 |
8 | R>P | No |
ClinGen gnomAD |
|
|
rs1338897820 CA381419257 |
8 | R>W | No |
ClinGen gnomAD |
|
|
CA6120615 rs756689098 |
9 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384254410 CA381419233 |
11 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1319880120 CA381419229 |
12 | Y>C | No |
ClinGen gnomAD |
|
|
CA224043956 rs931614848 |
17 | A>G | No |
ClinGen Ensembl |
|
|
CA224043949 rs919583563 |
18 | A>G | No |
ClinGen Ensembl |
|
|
CA381419191 rs1472319921 |
19 | L>V | No |
ClinGen gnomAD |
|
|
rs774064563 CA6120611 |
20 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1206548111 CA381419173 |
22 | V>L | No |
ClinGen TOPMed |
|
|
rs1246880831 CA381419155 |
24 | M>I | No |
ClinGen gnomAD |
|
|
CA6120609 rs762690431 |
26 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381419140 rs775465030 |
27 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs920728231 CA224043935 |
29 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1478860566 CA381419127 |
29 | Y>D | No |
ClinGen TOPMed |
|
|
rs1354612452 CA381419115 |
31 | S>* | No |
ClinGen gnomAD |
|
|
rs1802102 CA224043933 |
31 | S>P | No |
ClinGen Ensembl |
|
|
rs1325987419 CA381419096 |
35 | G>R | No |
ClinGen gnomAD |
|
|
CA6120605 rs776394171 |
37 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1432860247 CA381419083 |
37 | H>Y | No |
ClinGen gnomAD |
|
|
rs1404565571 CA381419078 |
38 | G>R | No |
ClinGen gnomAD |
|
|
rs11537930 CA381419067 |
39 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224043918 rs991890865 |
39 | Q>K | No |
ClinGen gnomAD |
|
|
CA381419059 rs1458086029 |
40 | E>D | No |
ClinGen gnomAD |
|
|
rs755264456 CA6120601 |
41 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs778955112 CA6120602 |
41 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1249218517 CA381419039 |
43 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1450752829 CA381419043 |
43 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780415381 CA6120599 |
45 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1676205 rs756392214 CA6120598 |
48 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1415299379 CA381418987 |
50 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1415299379 CA381418989 |
50 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs968013943 CA224043861 |
54 | R>L | No |
ClinGen gnomAD |
|
|
rs757767449 CA6120594 |
54 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1229722909 CA381418951 |
57 | D>H | No |
ClinGen TOPMed |
|
|
rs1300457792 CA381418944 |
58 | Q>K | No |
ClinGen TOPMed |
|
|
rs1387036292 CA381418934 |
59 | V>F | No |
ClinGen gnomAD |
|
|
rs763665112 CA6120592 |
60 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs374635648 CA6120590 |
63 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs865916943 CA381418904 |
64 | R>C | No |
ClinGen gnomAD |
|
|
rs865916943 CA224043847 |
64 | R>S | No |
ClinGen gnomAD |
|
|
CA381418895 rs1477309908 |
65 | T>I | No |
ClinGen gnomAD |
|
|
CA381418896 rs1477309908 |
65 | T>N | No |
ClinGen gnomAD |
|
|
CA381418893 rs765114036 |
66 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224043839 rs1041110763 |
67 | L>Q | No |
ClinGen Ensembl |
|
|
rs1482911347 CA381418871 |
70 | G>* | No |
ClinGen gnomAD |
|
|
rs759188917 CA6120588 |
71 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA381418862 rs1343035272 |
72 | V>I | No |
ClinGen gnomAD |
|
|
CA224043828 rs982138575 |
74 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA381418836 rs1276489367 |
76 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA381418831 rs1223921684 |
77 | G>S | No |
ClinGen gnomAD |
|
|
rs1305863865 CA381418809 |
80 | R>C | No |
ClinGen gnomAD |
|
|
rs774458027 CA6120584 |
81 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs868408971 CA224043816 |
83 | R>M | No |
ClinGen Ensembl |
|
|
CA381418776 rs1398585686 |
85 | L>P | No |
ClinGen TOPMed |
|
|
CA381418730 rs1157938063 |
92 | P>T | No |
ClinGen TOPMed |
|
|
rs887264258 CA381418719 |
93 | N>K | No |
ClinGen gnomAD |
|
|
CA6120582 rs749538656 |
98 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs371596462 CA6120581 |
99 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371596462 CA224043809 |
99 | T>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 106 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757744590 CA6120577 |
109 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1294984546 CA381418607 |
111 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA381418605 rs1294984546 |
111 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6120574 rs757942327 |
113 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381418585 rs1328944950 |
115 | R>C | No |
ClinGen gnomAD |
|
|
rs752404991 CA6120573 |
115 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1286197293 CA381418571 |
117 | E>K | No |
ClinGen gnomAD |
|
|
rs764740992 CA6120572 |
117 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381418556 rs1283199053 |
119 | P>L | No |
ClinGen gnomAD |
|
|
rs886038575 RCV000253338 CA10587134 |
120 | L>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 121 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753645986 CA6120570 |
122 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338025515 CA381418545 |
122 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs766169467 CA381418507 |
128 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6120569 rs766169467 |
128 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1180264401 CA381418495 |
130 | E>K | No |
ClinGen gnomAD |
|
|
rs760624931 CA6120568 |
132 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6120566 rs762959396 |
134 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775532954 CA6120564 |
135 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA381418453 rs1266116311 |
136 | T>R | No |
ClinGen gnomAD |
|
|
CA381418449 rs1590634323 |
137 | V>A | No |
ClinGen Ensembl |
|
|
CA224043757 rs376914969 |
137 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6120563 rs376914969 |
137 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163789115 CA381418429 |
140 | Y>* | No |
ClinGen gnomAD |
|
|
CA381418425 rs1288721067 |
141 | A>G | No |
ClinGen gnomAD |
|
|
rs917587439 CA224043747 |
141 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 143 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380794129 CA381418377 |
148 | D>A | No |
ClinGen gnomAD |
|
|
CA6120561 rs746070507 |
149 | M>V | No |
ClinGen ExAC |
|
|
rs1435073941 CA381418366 |
150 | R>C | No |
ClinGen gnomAD |
|
|
CA6120558 rs778359731 |
151 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778359731 CA6120557 |
151 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381418358 rs1414389639 |
151 | A>V | No |
ClinGen TOPMed |
|
|
CA381418356 rs1323089089 |
152 | R>G | No |
ClinGen gnomAD |
|
|
CA381418333 rs1398810031 |
155 | M>T | No |
ClinGen Ensembl |
|
|
CA381418336 rs1349598590 |
155 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381418322 rs1163014613 |
156 | H>Q | No |
ClinGen gnomAD |
|
|
CA6120555 rs752315396 |
158 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6120554 rs778484167 |
159 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA381418302 rs1188034363 |
160 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA381418289 rs1287909627 |
162 | R>G | No |
ClinGen TOPMed |
|
|
rs754630491 CA6120553 |
164 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA381418262 rs753511719 |
166 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120552 rs753511719 |
166 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224043704 rs140012343 |
167 | V>M | No |
ClinGen ESP gnomAD |
|
|
rs200785240 CA224043700 |
168 | P>A | No |
ClinGen Ensembl |
|
|
rs1261014031 CA381418251 |
168 | P>H | No |
ClinGen TOPMed |
|
|
rs766114704 CA6120551 |
169 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6120547 COSM544587 rs761732914 |
172 | E>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6120546 rs769894538 |
172 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6120543 rs776873237 |
173 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759698777 CA6120544 |
173 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA381418221 rs1292128658 |
174 | G>R | No |
ClinGen gnomAD |
|
|
rs1168126109 CA381418212 |
175 | E>D | No |
ClinGen gnomAD |
|
|
rs747321125 CA381418215 |
175 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6120541 rs747321125 |
175 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1055735443 CA224043636 |
175 | E>V | No |
ClinGen TOPMed |
|
|
rs529465001 CA6120540 |
177 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs1427920088 CA381418198 |
177 | A>V | No |
ClinGen gnomAD |
|
|
rs772775492 CA6120539 |
178 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA381418191 rs1172527861 |
179 | L>P | No |
ClinGen gnomAD |
|
|
CA381418184 rs1266468980 |
180 | R>L | No |
ClinGen gnomAD |
|
|
CA381418186 rs1266468980 |
180 | R>Q | No |
ClinGen gnomAD |
|
|
CA381418188 rs748637529 |
180 | R>W | No |
ClinGen ExAC TOPMed |
|
|
CA381418182 rs1189272376 |
181 | S>P | No |
ClinGen gnomAD |
|
|
CA381418176 rs1555016556 |
182 | C>R | No |
ClinGen Ensembl |
|
|
CA381418165 rs1489316157 |
183 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778340403 CA6120537 |
184 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224043612 rs866363809 |
190 | A>P | No |
ClinGen Ensembl |
|
|
rs866363809 CA224043603 |
190 | A>S | No |
ClinGen Ensembl |
|
|
CA6120535 rs754466638 |
191 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA381418111 rs1228860313 |
191 | R>S | No |
ClinGen gnomAD |
|
|
CA224043598 rs996499077 |
192 | V>L | No |
ClinGen Ensembl |
|
|
CA381418109 rs996499077 |
192 | V>M | No |
ClinGen Ensembl |
|
|
rs1299773681 CA381418099 |
193 | A>V | No |
ClinGen gnomAD |
|
|
rs1213307833 CA381418091 |
195 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560639654 CA6120533 |
196 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6120532 rs755748455 |
199 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750284280 CA381418051 |
201 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381418049 rs1372530809 |
201 | L>P | No |
ClinGen gnomAD |
|
|
CA6120530 rs540890052 |
204 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA224043571 rs1008311913 |
204 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1481301615 CA381418007 |
208 | P>S | No |
ClinGen gnomAD |
|
|
rs1481301615 CA381418009 |
208 | P>T | No |
ClinGen gnomAD |
|
|
CA381417979 rs1274715213 |
212 | L>P | No |
ClinGen TOPMed |
|
|
CA381417975 rs1181091654 |
213 | R>K | No |
ClinGen gnomAD |
|
|
CA381417954 rs759595733 |
216 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6120526 rs759595733 |
216 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA224043565 rs887215474 |
217 | R>C | No |
ClinGen Ensembl |
|
|
CA224043563 rs867478910 |
219 | G>E | No |
ClinGen Ensembl |
|
|
rs766768234 CA6120524 |
221 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs113570160 CA224043561 |
222 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA381417920 rs1254781108 |
222 | Y>H | No |
ClinGen gnomAD |
|
|
CA381417891 rs1288080924 |
227 | D>N | No |
ClinGen gnomAD |
|
|
rs966712188 CA224043557 |
228 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs772546732 CA6120521 |
228 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs774850290 CA6120519 |
230 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 233 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381417833 rs1266269787 |
235 | G>A | No |
ClinGen TOPMed |
|
|
RCV000710738 rs1266269787 CA381417832 |
235 | G>E | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA381417830 rs1590634004 |
236 | L>M | No |
ClinGen Ensembl |
|
|
rs1406590717 CA381417805 |
239 | G>A | No |
ClinGen gnomAD |
|
|
CA6120517 rs748883427 |
239 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA381417807 rs1406590717 |
239 | G>V | No |
ClinGen gnomAD |
|
|
rs1365191042 CA381417798 |
241 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 246 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381417751 rs1422792318 |
247 | S>N | No |
ClinGen gnomAD |
|
|
CA6120514 rs745495588 |
249 | Q>H | No |
ClinGen ExAC |
|
|
CA381417740 rs1253458489 |
249 | Q>K | No |
ClinGen gnomAD |
|
|
CA6120513 rs564872960 |
251 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757005775 CA6120512 |
252 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757005775 CA224043533 |
252 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35429253 CA224043523 |
253 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200527107 CA224043520 |
254 | A>T | No |
ClinGen TOPMed |
|
|
rs1331589057 CA381417706 |
255 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA381417697 rs1261540301 |
256 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 256 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381417694 rs1244314838 |
257 | V>L | No |
ClinGen gnomAD |
|
|
rs754018765 CA6120508 |
258 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA381417688 rs201440245 |
258 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6120507 rs766537591 |
259 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6120506 rs376475080 |
267 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 270 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6120505 COSM429648 rs773522708 |
270 | M>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs958401766 CA224043513 |
270 | M>V | No |
ClinGen TOPMed |
|
|
rs1366256663 CA381417583 |
273 | N>K | No |
ClinGen gnomAD |
|
|
rs1457069637 CA381417588 |
273 | N>Y | No |
ClinGen gnomAD |
|
|
CA381417580 rs1164957106 |
274 | E>* | No |
ClinGen gnomAD |
|
|
CA224043507 rs898679971 |
278 | L>H | No |
ClinGen Ensembl |
|
|
CA381417540 rs1187161687 |
280 | Q>* | No |
ClinGen gnomAD |
|
|
rs774562664 CA6120502 |
280 | Q>R | No |
ClinGen ExAC |
|
|
rs1449152242 CA381417530 |
281 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6120501 rs769270138 |
284 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA381417509 COSM930723 rs1354476337 |
285 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1432807867 CA381417459 |
292 | C>Y | No |
ClinGen gnomAD |
|
|
CA6120498 rs769243318 |
293 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA224043472 rs769243318 |
293 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA6120497 rs745550649 |
295 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1243168004 CA381417438 |
295 | C>W | No |
ClinGen TOPMed |
|
|
CA381417431 rs1385963044 |
296 | Q>H | No |
ClinGen gnomAD |
|
|
CA381417391 rs1165012258 |
302 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs964556862 CA224043469 |
303 | R>C | No |
ClinGen TOPMed |
|
|
rs1424758785 CA381417387 |
303 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381417354 rs1463831369 |
308 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA381417346 rs1167332231 |
309 | E>V | No |
ClinGen gnomAD |
|
|
rs746880363 CA6120494 |
310 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381417333 rs1399357912 |
311 | S>N | No |
ClinGen gnomAD |
|
|
CA381417322 rs1565209297 |
312 | L>F | No |
ClinGen Ensembl |
|
|
CA6120493 rs777428570 |
314 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA381417307 rs1451935269 |
315 | P>L | No |
ClinGen TOPMed |
|
|
rs780307543 CA6120490 |
318 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA224043442 rs1008736415 |
318 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1272536382 CA381417280 |
320 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1212786380 CA381417268 |
321 | W>C | No |
ClinGen gnomAD |
|
|
CA381417265 rs1165237613 |
322 | Q>* | No |
ClinGen TOPMed |
|
|
rs1590633783 CA381417256 |
323 | D>A | No |
ClinGen Ensembl |
|
|
CA6120489 rs756226075 |
327 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6120485 COSM1322240 rs751991894 |
330 | V>M | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6120484 rs764341255 |
331 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs557718654 CA6120481 |
334 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA224043379 rs1047428404 |
334 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1590633736 CA381417176 |
335 | V>G | No |
ClinGen Ensembl |
|
|
CA6120479 rs776107231 |
339 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA381417147 rs1441553616 |
340 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770685607 CA381417137 |
341 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770685607 CA381417136 |
341 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777675589 CA6120476 |
343 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759960341 CA6120477 |
343 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1438401147 CA381417123 |
344 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6120474 rs372695941 |
348 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6120473 rs372695941 |
348 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6120471 rs377282346 |
349 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180685101 CA381417087 |
349 | R>Q | No |
ClinGen TOPMed |
|
|
rs1193152580 CA381417075 |
351 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1337887586 CA381417048 |
353 | A>T | No |
ClinGen gnomAD |
|
|
COSM266077 rs1018696626 CA224043254 |
355 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs757219527 CA6120451 |
359 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202227419 CA6120452 |
359 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs757219527 CA6120450 |
359 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs75171367 CA6120446 |
361 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA381416980 rs1434825203 |
363 | F>L | No |
ClinGen TOPMed |
|
|
CA381416983 rs1464331594 |
363 | F>S | No |
ClinGen gnomAD |
|
|
rs765579855 CA6120445 |
364 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765579855 CA381416979 |
364 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590633409 CA381416967 |
365 | V>G | No |
ClinGen Ensembl |
|
|
rs1217560836 CA381416971 |
365 | V>I | No |
ClinGen gnomAD |
|
|
rs755534200 CA6120444 |
367 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1024259166 CA224043181 |
367 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381416948 rs1243146726 |
369 | G>S | No |
ClinGen gnomAD |
|
|
rs1316420567 CA381416917 |
373 | H>R | No |
ClinGen gnomAD |
|
|
CA381416903 rs1290973853 |
375 | G>D | No |
ClinGen gnomAD |
|
|
CA6120442 rs765914605 |
375 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA381416901 rs1290973853 |
375 | G>V | No |
ClinGen gnomAD |
|
|
CA381416858 rs1293300273 |
381 | K>N | No |
ClinGen TOPMed |
|
|
rs1443678248 CA381416836 |
384 | P>R | No |
ClinGen TOPMed |
|
|
CA6120438 rs761556556 |
385 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1056654045 CA224043124 |
387 | E>G | No |
ClinGen Ensembl |
|
|
rs1164181262 CA381416794 |
390 | N>K | No |
ClinGen gnomAD |
|
|
CA6120436 rs375281337 |
392 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1555016276 RCV000599417 |
393 | N>missing | No |
ClinVar dbSNP |
|
|
CA381416776 rs1393876746 |
393 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1417242093 CA381416745 |
397 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA381416739 rs1221193182 |
398 | R>C | No |
ClinGen TOPMed |
|
|
CA381416738 COSM1356184 rs1188082765 |
398 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1245783491 CA381416710 |
402 | Q>E | No |
ClinGen gnomAD |
|
|
rs921785357 CA224043095 |
403 | E>K | No |
ClinGen Ensembl |
|
|
CA381416681 COSM1746490 rs1565208960 |
406 | A>T | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1228370944 CA381416676 |
407 | K>E | No |
ClinGen gnomAD |
|
|
CA381416665 rs1590633279 |
408 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 409 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590633273 CA381416649 |
410 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 411 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381416637 rs1590633262 |
412 | P>L | No |
ClinGen Ensembl |
|
|
rs1450064290 RCV000627627 |
413 | R>missing | No |
ClinVar dbSNP |
|
|
rs746145022 CA224043078 |
413 | R>* | No |
ClinGen gnomAD |
|
|
CA381416633 rs748354572 |
413 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs748354572 CA6120431 |
413 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6120430 rs562459083 |
414 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6120429 rs562459083 |
414 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224043060 rs944594110 |
415 | C>Y | No |
ClinGen Ensembl |
1 associated diseases with O43505
[MIM: 615287]: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13)
An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:23359570, ECO:0000269|PubMed:23877401}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:23359570, ECO:0000269|PubMed:23877401}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for O43505
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O43505 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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 Golgi membrane | The component of the Golgi 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 |
|---|---|
| glucuronosyltransferase activity | Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside. |
| metal ion binding | Binding to a metal ion. |
| N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity | Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-1,4-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-1,3-beta-D-galactosyl-1,4-N-acetyl-D-glucosaminyl-R. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| keratan sulfate biosynthetic process | The chemical reactions and pathways resulting in the formation of keratan sulfate, a glycosaminoglycan with repeat units consisting of beta-1,4-linked D-galactopyranosyl-beta-(1,4)-N-acetyl-D-glucosamine 6-sulfate and with variable amounts of fucose, sialic acid and mannose units; keratan sulfate chains are covalently linked by a glycosidic attachment through the trisaccharide galactosyl-galactosyl-xylose to peptidyl-threonine or serine residues. |
| protein O-linked mannosylation | The transfer of mannose from dolichyl activated mannose to the hydroxyl group of a seryl or threonyl residue of a protein acceptor molecule, to form an O-linked protein-sugar linkage. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5EA01 | B4GAT1 | Beta-1,4-glucuronyltransferase 1 | Bos taurus (Bovine) | PR |
| Q5ZKI6 | GXYLT1 | Glucoside xylosyltransferase 1 | Gallus gallus (Chicken) | PR |
| Q66PG4 | LARGE2 | Xylosyl- and glucuronyltransferase LARGE2s | Gallus gallus (Chicken) | PR |
| A0PJZ3 | GXYLT2 | Glucoside xylosyltransferase 2 | Homo sapiens (Human) | PR |
| Q810K9 | Gxylt2 | Glucoside xylosyltransferase 2 | Mus musculus (Mouse) | PR |
| Q8BWP8 | B4gat1 | Beta-1,4-glucuronyltransferase 1 | Mus musculus (Mouse) | PR |
| Q21389 | lge-1 | Glycosyltransferase-like protein LARGE | Caenorhabditis elegans | PR |
| L7YAI7 | b4gat1 | Beta-1,4-glucuronyltransferase 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQMSYAIRCA | FYQLLLAALM | LVAMLQLLYL | SLLSGLHGQE | EQDQYFEFFP | PSPRSVDQVK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AQLRTALASG | GVLDASGDYR | VYRGLLKTTM | DPNDVILATH | ASVDNLLHLS | GLLERWEGPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SVSVFAATKE | EAQLATVLAY | ALSSHCPDMR | ARVAMHLVCP | SRYEAAVPDP | REPGEFALLR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SCQEVFDKLA | RVAQPGINYA | LGTNVSYPNN | LLRNLAREGA | NYALVIDVDM | VPSEGLWRGL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| REMLDQSNQW | GGTALVVPAF | EIRRARRMPM | NKNELVQLYQ | VGEVRPFYYG | LCTPCQAPTN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YSRWVNLPEE | SLLRPAYVVP | WQDPWEPFYV | AGGKVPTFDE | RFRQYGFNRI | SQACELHVAG |
| 370 | 380 | 390 | 400 | 410 | |
| FDFEVLNEGF | LVHKGFKEAL | KFHPQKEAEN | QHNKILYRQF | KQELKAKYPN | SPRRC |