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Protein

C1GALT1-specific chaperone 1

Gene

C1GALT1C1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1).1 Publication

Miscellaneous

Defects in C1GALT1C1 in Ag104A cell line create a tumor-specific glycopeptidic neo-epitope. This epitope induces a high-affinity, highly specific, syngeneic monoclonal antibody. This is caused by the abolition of function of a glycosyltransferase, disrupting O-glycan Core 1 synthesis.

Caution

Was originally (PubMed:12361956) assigned to be a glycosyltransferase. However, it was later shown (Ref. 2 and PubMed:12464682) that it has no transferase activity and rather acts as a chaperone.1 Publication

GO - Molecular functioni

  • glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity Source: GO_Central

GO - Biological processi

  • O-glycan processing, core 1 Source: GO_Central
  • platelet activation Source: Ensembl
  • platelet morphogenesis Source: Ensembl
  • protein O-linked glycosylation Source: MGI

Keywordsi

Molecular functionChaperone

Enzyme and pathway databases

BRENDAi2.4.1.122 2681
ReactomeiR-HSA-5083632 Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
R-HSA-913709 O-linked glycosylation of mucins

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

Names & Taxonomyi

Protein namesi
Recommended name:
C1GALT1-specific chaperone 1
Alternative name(s):
C38H2-like protein 1
Short name:
C38H2-L1
Core 1 beta1,3-galactosyltransferase 2
Short name:
C1Gal-T2
Short name:
C1GalT2
Short name:
Core 1 beta3-Gal-T2
Core 1 beta3-galactosyltransferase-specific molecular chaperone
Gene namesi
Name:C1GALT1C1
Synonyms:COSMC
ORF Names:HSPC067, MSTP143, UNQ273/PRO310
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000171155.7
HGNCiHGNC:24338 C1GALT1C1
MIMi300611 gene
neXtProtiNX_Q96EU7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 6CytoplasmicSequence analysis6
Transmembranei7 – 26Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST20
Topological domaini27 – 318LumenalSequence analysisAdd BLAST292

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Tn polyagglutination syndrome (TNPS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders.
See also OMIM:300622
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031911152E → K in TNPS; loss capacity to promote Tn synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs137853599EnsemblClinVar.1
Natural variantiVAR_069275193S → P in TNPS. 1 PublicationCorresponds to variant dbSNP:rs397514537EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi29071
MalaCardsiC1GALT1C1
MIMi300622 phenotype
OpenTargetsiENSG00000171155
PharmGKBiPA134974626

Polymorphism and mutation databases

BioMutaiC1GALT1C1
DMDMi74751849

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002850741 – 318C1GALT1-specific chaperone 1Add BLAST318

Proteomic databases

EPDiQ96EU7
MaxQBiQ96EU7
PaxDbiQ96EU7
PeptideAtlasiQ96EU7
PRIDEiQ96EU7
ProteomicsDBi76452

PTM databases

iPTMnetiQ96EU7
PhosphoSitePlusiQ96EU7

Expressioni

Tissue specificityi

Ubiquitously expressed. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus.1 Publication

Gene expression databases

BgeeiENSG00000171155 Expressed in 218 organ(s), highest expression level in palpebral conjunctiva
CleanExiHS_C1GALT1C1
GenevisibleiQ96EU7 HS

Organism-specific databases

HPAiHPA015632

Interactioni

Subunit structurei

Associates with core 1 beta-3-galactosyltransferase (C1GALT1), probably not with the soluble active form.

Binary interactionsi

WithEntry#Exp.IntActNotes
C1GALT1Q9NS004EBI-2837343,EBI-8628584

Protein-protein interaction databases

BioGridi118844, 17 interactors
IntActiQ96EU7, 3 interactors
MINTiQ96EU7
STRINGi9606.ENSP00000304364

Structurei

3D structure databases

ProteinModelPortaliQ96EU7
SMRiQ96EU7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2246 Eukaryota
ENOG410YRJG LUCA
GeneTreeiENSGT00530000063264
HOGENOMiHOG000013033
HOVERGENiHBG059493
InParanoidiQ96EU7
KOiK09653
OMAiCLKYTGV
OrthoDBiEOG091G0F36
PhylomeDBiQ96EU7
TreeFamiTF317293

Family and domain databases

InterProiView protein in InterPro
IPR026731 C1GALT1C1
PANTHERiPTHR23033:SF2 PTHR23033:SF2, 1 hit

Sequencei

Sequence statusi: Complete.

Q96EU7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLSESSSFLK GVMLGSIFCA LITMLGHIRI GHGNRMHHHE HHHLQAPNKE
60 70 80 90 100
DILKISEDER MELSKSFRVY CIILVKPKDV SLWAAVKETW TKHCDKAEFF
110 120 130 140 150
SSENVKVFES INMDTNDMWL MMRKAYKYAF DKYRDQYNWF FLARPTTFAI
160 170 180 190 200
IENLKYFLLK KDPSQPFYLG HTIKSGDLEY VGMEGGIVLS VESMKRLNSL
210 220 230 240 250
LNIPEKCPEQ GGMIWKISED KQLAVCLKYA GVFAENAEDA DGKDVFNTKS
260 270 280 290 300
VGLSIKEAMT YHPNQVVEGC CSDMAVTFNG LTPNQMHVMM YGVYRLRAFG
310
HIFNDALVFL PPNGSDND
Length:318
Mass (Da):36,382
Last modified:December 1, 2001 - v1
Checksum:i5D766966A872CA84
GO

Sequence cautioni

The sequence AAF29039 differs from that shown. Reason: Frameshift at positions 16, 22, 24 and 25.Curated
The sequence CAC80277 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti76K → E in CAC80277 (Ref. 3) Curated1
Sequence conflicti107V → E in AAF29039 (PubMed:11042152).Curated1
Sequence conflicti108F → L in CAC80277 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031910131D → E Common polymorphism; retains capacity to promote Tn synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs17261572EnsemblClinVar.1
Natural variantiVAR_069274143A → V1 PublicationCorresponds to variant dbSNP:rs45557031EnsemblClinVar.1
Natural variantiVAR_031911152E → K in TNPS; loss capacity to promote Tn synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs137853599EnsemblClinVar.1
Natural variantiVAR_069275193S → P in TNPS. 1 PublicationCorresponds to variant dbSNP:rs397514537EnsemblClinVar.1
Natural variantiVAR_069276222Q → H1 PublicationCorresponds to variant dbSNP:rs200973382Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB084170 mRNA Translation: BAC41493.1
AY159319 mRNA Translation: AAN78129.1
AJ238398 mRNA Translation: CAC80277.1 Different initiation.
AF161552 mRNA Translation: AAF29039.1 Frameshift.
AF177284 mRNA Translation: AAQ13670.1
AY358642 mRNA Translation: AAQ89005.1
AC011890 Genomic DNA No translation available.
AK290111 mRNA Translation: BAF82800.1
CH471107 Genomic DNA Translation: EAX11873.1
BC011930 mRNA Translation: AAH11930.1
BC050441 mRNA Translation: AAH50441.1
CCDSiCCDS14602.1
RefSeqiNP_001011551.1, NM_001011551.2
NP_689905.1, NM_152692.4
UniGeneiHs.643920

Genome annotation databases

EnsembliENST00000304661; ENSP00000304364; ENSG00000171155
ENST00000371313; ENSP00000360363; ENSG00000171155
GeneIDi29071
KEGGihsa:29071
UCSCiuc004esy.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Functional Glycomics Gateway - GTase

C1GALT1-specific chaperone 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB084170 mRNA Translation: BAC41493.1
AY159319 mRNA Translation: AAN78129.1
AJ238398 mRNA Translation: CAC80277.1 Different initiation.
AF161552 mRNA Translation: AAF29039.1 Frameshift.
AF177284 mRNA Translation: AAQ13670.1
AY358642 mRNA Translation: AAQ89005.1
AC011890 Genomic DNA No translation available.
AK290111 mRNA Translation: BAF82800.1
CH471107 Genomic DNA Translation: EAX11873.1
BC011930 mRNA Translation: AAH11930.1
BC050441 mRNA Translation: AAH50441.1
CCDSiCCDS14602.1
RefSeqiNP_001011551.1, NM_001011551.2
NP_689905.1, NM_152692.4
UniGeneiHs.643920

3D structure databases

ProteinModelPortaliQ96EU7
SMRiQ96EU7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118844, 17 interactors
IntActiQ96EU7, 3 interactors
MINTiQ96EU7
STRINGi9606.ENSP00000304364

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

PTM databases

iPTMnetiQ96EU7
PhosphoSitePlusiQ96EU7

Polymorphism and mutation databases

BioMutaiC1GALT1C1
DMDMi74751849

Proteomic databases

EPDiQ96EU7
MaxQBiQ96EU7
PaxDbiQ96EU7
PeptideAtlasiQ96EU7
PRIDEiQ96EU7
ProteomicsDBi76452

Protocols and materials databases

DNASUi29071
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304661; ENSP00000304364; ENSG00000171155
ENST00000371313; ENSP00000360363; ENSG00000171155
GeneIDi29071
KEGGihsa:29071
UCSCiuc004esy.4 human

Organism-specific databases

CTDi29071
DisGeNETi29071
EuPathDBiHostDB:ENSG00000171155.7
GeneCardsiC1GALT1C1
HGNCiHGNC:24338 C1GALT1C1
HPAiHPA015632
MalaCardsiC1GALT1C1
MIMi300611 gene
300622 phenotype
neXtProtiNX_Q96EU7
OpenTargetsiENSG00000171155
PharmGKBiPA134974626
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2246 Eukaryota
ENOG410YRJG LUCA
GeneTreeiENSGT00530000063264
HOGENOMiHOG000013033
HOVERGENiHBG059493
InParanoidiQ96EU7
KOiK09653
OMAiCLKYTGV
OrthoDBiEOG091G0F36
PhylomeDBiQ96EU7
TreeFamiTF317293

Enzyme and pathway databases

BRENDAi2.4.1.122 2681
ReactomeiR-HSA-5083632 Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
R-HSA-913709 O-linked glycosylation of mucins

Miscellaneous databases

ChiTaRSiC1GALT1C1 human
GenomeRNAii29071
PROiPR:Q96EU7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171155 Expressed in 218 organ(s), highest expression level in palpebral conjunctiva
CleanExiHS_C1GALT1C1
GenevisibleiQ96EU7 HS

Family and domain databases

InterProiView protein in InterPro
IPR026731 C1GALT1C1
PANTHERiPTHR23033:SF2 PTHR23033:SF2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiC1GLC_HUMAN
AccessioniPrimary (citable) accession number: Q96EU7
Secondary accession number(s): A8K246, Q8WWS3, Q9NZX1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 135 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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