UniProt | Protein Name |
---|---|
Q93063 |
|
GO Term | Evidence Code | PMID |
---|---|---|
sodium ion homeostasis | ||
heart contraction | ||
gene expression | ||
fluid transport |
GO Term | Evidence Code | PMID |
---|---|---|
catalytic complex | ||
membrane | ||
Golgi apparatus | ||
Golgi membrane | ||
endoplasmic reticulum |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity | ||
protein heterodimerization activity | ||
metal ion binding | ||
acetylglucosaminyltransferase activity |
Gene Ontology |
---|
heparan sulfate proteoglycan biosynthetic process |
transferase activity |
InterPro |
---|
Exostosin, GT47 domain |
Exostosin-like |
Glycosyl transferase 64 domain |
Nucleotide-diphospho-sugar transferases |
Donor | Acceptor | Reducing terminal(Acceptor) | Reference |
---|---|---|---|
UDP-GalNAc |
G14371GV
|
O-(Gly)Ser-Glu coexpression of EXT1 and EXT2 | |
UDP-GalNAc |
G14371GV
|
O-Ser coexpression of EXT1 and EXT2 | |
UDP-GalNAc |
G14371GV
|
O-(Gly)Ser-Glu | |
UDP-GalNAc |
G14371GV
|
O-Ser | |
UDP-GalNAc |
G14371GV
|
O-Ser-Gly-Typ-Pro-Asp-Gly |
Species | Protein | mRNA |
---|---|---|
Drosophila melanogaster | NP_788368 | NM_176188 |
Rattus norvegicus | XP_230303 | XM_230303 |
Mus musculus | NP_034293 | NM_010163 |
DO ID | Disease Name | Source |
---|---|---|
DOID:206 | hereditary multiple exostoses |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000016 | Urinary retention |
HP:0000028 | Cryptorchidism |
HP:0000054 | Micropenis |
HP:0000077 | Abnormality of the kidney |
HP:0000093 | Proteinuria |
HP:0000248 | Brachycephaly |
HP:0000252 | Microcephaly |
HP:0000256 | Macrocephaly |
Disease ID | Disease Name |
---|---|
ORPHA:52022 |
|
OMIM:616682 |
|
ORPHA:466926 |
|
ORPHA:321 |
|
OMIM:133701 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
14043 | MGI:108050 | MOUSE33620 | ||
281151 | BOVIN07457 | |||
311215 | RGD:1307707 | RATNO29138 | ||
380140 | Xenbase:XB-GENE-6254068 | |||
398750 | Xenbase:XB-GENE-17331478 | |||
451140 | 9598_0:003371 | |||
475989 | CANLF05885 | |||
493780 | ZFIN:ZDB-GENE-041124-3 | DANRE40872 | ||
3772101 | FB:FBgn0029175 | |||
100010947 | MONDO27241 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024