C1GALT1C1

GENERAL INFORMATION

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Gene name

C1GALT1C1

Gene description

C1GALT1-specific chaperone 1

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Normal tissues exhibited strong cytoplasmic positivity with a granular pattern. Bile duct cells were weakly positive and renal glomeruli were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA015632
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

C1GALT1C1 (HGNC Symbol)

Synonyms

C1GALT2, COSMC

Description

C1GALT1-specific chaperone 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]

Chromosome

X

Cytoband

q24

Chromosome location (bp)

120625793 - 120630150

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171155 (version 78.38)

Entrez gene

29071

UniProt

Q96EU7 (UniProt - Evidence at protein level)

neXtProt

NX_Q96EU7

Antibodypedia

C1GALT1C1 antibodies


PROTEIN BROWSER

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ENST00000304661
 
ENST00000371313
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

C1GALT1C1-001 ENSP00000304364
ENST00000304661
Q96EU7
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Show » Show » 318 36.4 No 0
C1GALT1C1-002 ENSP00000360363
ENST00000371313
Q96EU7
Show all »
Show » Show » 318 36.4 No 0