C1GALT1C1はC1GALT1 specific chaperone 1をコードする。本タンパク質はcosmc (core 1 β3-Gal-T-specific molecular chaperone)とも呼ばれる。cosmcは糖転移酵素活性は有さず、小胞体に局在し、core1 GalTタンパク質の正常な分子フォールディングのために機能している。
Keyword:
O-結合型糖鎖
, TF抗原
, T抗原
, cosmc
, コア1
, シャペロン
Glycosyltransferase chaperone
| GGDB Symbol |
C1GALT1C1
Alias
|
HGNC Symbol
|
: |
C1GALT1C1
|
|
historical
|
: |
C1GALT2 COSMC
|
|
clone name
|
: |
MGC19947
|
|
unknown
|
: |
C1Gal-T2 C38H2-L1 HSPC067 MST143
|
|
|
|
| Designation | core1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 2 |
| Organism | Homo sapiens |
| GeneID |
29071
|
| HGNC |
C1GALT1C1
(24338)
|
| mRNA |
NM_152692
|
| map | Xq24 |
| Protein |
NP_689905
|
| EC# |
2.4.1.122
|
| CAZy |
|
| GlyCosmos Glycogenes |
C1GALT1C1
|
| OMIM |
300611
|
| Disease name |
|
| GDGDB |
|
| Human Protein Atlas |
ENSG00000171155
|
J. Biol. Chem. 2002-12-01 ;277(49):47724-31.
Molecular cloning and characterization of a novel UDP-Gal:GalNAc(alpha) peptide beta 1,3-galactosyltransferase (C1Gal-T2), an enzyme synthesizing a core 1 structure of O-glycan.
Kudo T. et al.
PMID:12361956
bone marrowbraincerebellumcerebral cortexcolonheartkidneyliverlungmammary glandovarypancreasperipheral blood leukocyteplacentaprostatesalivary glandskeletal musclesmall intestinespinal cordspleenstomachtestisthymusthyroid glandtracheauterus
This page does not indicate all of the enzymatic reaction, and expression of "C1GALT1C1".