C1GALT1C1 (C1GALT1 specific chaperone 1)

Gene Basic Information

Gene Basic Information

symbol
C1GALT1C1
locus group
protein-coding gene
location
Xq24
gene_family
-
alias symbol
COSMC|C1GALT2
alias name
None
entrez id
29071
ensembl gene id
ENSG00000171155
ucsc gene id
uc004esz.4
refseq accession
NM_152692
hgnc_id
HGNC:24338
approved reserved
2005-01-26

Chromosome Location

Chromosome Location

Xq24

Gene Summary

Gene Summary

ChineseEnglish

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]

OMIM entry for C1GALT1C1     Wikipedia entry for C1GALT1C1

Gene Sequence

Gene Sequence

Nucleotide sequence of C1GALT1C1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MLSESSSFLK GVMLGSIFCA LITMLGHIRI GHGNRMHHHE
41HHHLQAPNKE DILKISEDER MELSKSFRVY CIILVKPKDV
81 SLWAAVKET WTKHCDKAEF FSSENVKVFE SINMDTNDMW
121LMMRKAYKYA FDKYRDQYNW FFLARPTTFA IIENLKYFLL
161K KDPSQPFY LGHTIKSGDL EYVGMEGGIV LSVESMKRLN
201SLLNIPEKCP EQGGMIWKIS EDKQLAVCLK YAGVFAENAE
241DA DGKDVFN TKSVGLSIKE AMTYHPNQVV EGCCSDMAVT
281FNGLTPNQMH VMMYGVYRLR AFGHIFNDAL VFLPPNGSDN
321D
Structure predicted by AlphaFold DB(UniProt: Q96EU7). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of C1GALT1C1:           Showing partial SNPs
rs781099009       rs780764659       rs780735829       rs780072842       rs780291921       rs779799135       rs779922291       rs779509225       rs779319811       rs779391902       rs778819609       rs778965726       rs777879851       rs777803355       rs777636717       rs777509909       rs777518677      

Gene Expression

Gene Expression

Tissue expression of C1GALT1C1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
TCTAGACGCGGATGAAGTG
59
ATGCTTCCAAGCATCACAC
59
CTAGAACAGCCTGGTCAGG
60
ATGCTTCCAAGCATCACAC
59
CTAGAACAGCCTGGTCAGG
60
GGAGCTGCTTTCAGAAAGC
60
TCTAGACGCGGATGAAGTG
59
GGAGCTGCTTTCAGAAAGC
60
TCTAGACGCGGATGAAGTG
59
GAGCTGCTTTCAGAAAGCA
59
CTAGAACAGCCTGGTCAGG
60
GAGCTGCTTTCAGAAAGCA
59

Gene Ontology

Subcellular localization of C1GALT1C1 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for C1GALT1C1:

GO ID
Protein
Source DB
GO:0000139
Q96EU7 (UniProtKB)
TAS
GO:0000139
Q96EU7 (UniProtKB)
TAS
GO:0005515
Q96EU7 (UniProtKB)
IPI
GO:0006493
Q96EU7 (UniProtKB)
IMP
GO:0016021
Q96EU7 (UniProtKB)
IEA
GO:0016263
Q96EU7 (UniProtKB)
IBA
GO:0016266
Q96EU7 (UniProtKB)
TAS
GO:0016267
Q96EU7 (UniProtKB)
IBA
GO:0030168
Q96EU7 (UniProtKB)
IEA
GO:0036344
Q96EU7 (UniProtKB)
IEA
GO:0070062
Q96EU7 (UniProtKB)
IDA

Related microRNA

Related microRNA

microRNAs potentially regulating C1GALT1C1:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Tn Syndrome 0.36 1 5 CLINVAR_CTD_human_UNIPROT
Colonic Neoplasms 0.0054487 2 0 LHGDN
IGA Glomerulonephritis 0.003995683 6 0 BeFree_GAD
Autoimmune Diseases 0.00272435 1 0 LHGDN
Malignant neoplasm of pancreas 0.000271442 1 0 BeFree
Inflammatory Bowel Diseases 0.000271442 1 0 BeFree
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 0.000271442 1 0 BeFree
Hemangioma 0.000271442 1 0 BeFree
Pancreatic Ductal Adenocarcinoma 0.000271442 1 0 BeFree
Strawberry nevus of skin 0.000271442 1 0 BeFree

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