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Protein

Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

Gene

C1GALT1

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

Functioni

Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development.

Miscellaneous

Aberrant O-galactosylation of IgA1 molecules plays a role in the development and progression of IgA nephropathy (IgAN). Genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgAN.

Catalytic activityi

UDP-alpha-D-galactose + N-acetyl-alpha-D-galactosaminyl-R = UDP + beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl-R.1 Publication

Cofactori

Mg2+By similarity

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

GO - Biological processi

  • angiogenesis Source: UniProtKB
  • intestinal epithelial cell development Source: Ensembl
  • kidney development Source: UniProtKB
  • O-glycan processing, core 1 Source: GO_Central

Keywordsi

Molecular functionDevelopmental protein, Glycosyltransferase, Transferase
Biological processAngiogenesis, Differentiation
LigandMagnesium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS02901-MONOMER
BRENDAi2.4.1.122 2681
ReactomeiR-HSA-913709 O-linked glycosylation of mucins
UniPathwayiUPA00378

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

Names & Taxonomyi

Protein namesi
Recommended name:
Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (EC:2.4.1.1221 Publication)
Alternative name(s):
B3Gal-T8
Core 1 O-glycan T-synthase
Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1
Short name:
Beta-1,3-galactosyltransferase
Core 1 beta1,3-galactosyltransferase 1
Short name:
C1GalT1
Short name:
Core 1 beta3-Gal-T1
Gene namesi
Name:C1GALT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106392.10
HGNCiHGNC:24337 C1GALT1
MIMi610555 gene
neXtProtiNX_Q9NS00

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 – 29Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST23
Topological domaini30 – 363LumenalSequence analysisAdd BLAST334

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi56913
OpenTargetsiENSG00000106392
PharmGKBiPA134971259

Chemistry databases

ChEMBLiCHEMBL2321633

Polymorphism and mutation databases

DMDMi74719147

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002850641 – 363Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1Add BLAST363

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei235PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

EPDiQ9NS00
MaxQBiQ9NS00
PaxDbiQ9NS00
PeptideAtlasiQ9NS00
PRIDEiQ9NS00

PTM databases

iPTMnetiQ9NS00
PhosphoSitePlusiQ9NS00

Expressioni

Tissue specificityi

Widely expressed. Highly expressed in kidney, heart, placenta and liver.1 Publication

Gene expression databases

BgeeiENSG00000106392
CleanExiHS_C1GALT1
ExpressionAtlasiQ9NS00 baseline and differential
GenevisibleiQ9NS00 HS

Organism-specific databases

HPAiHPA011294
HPA012819

Interactioni

Subunit structurei

Homodimer; disulfide-linked (By similarity). Interacts with the C1GALT1C1 chaperone; required for galactosyltransferase activity.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
C1GALT1C1Q96EU74EBI-8628584,EBI-2837343

Protein-protein interaction databases

BioGridi121241, 8 interactors
IntActiQ9NS00, 1 interactor
MINTiQ9NS00
STRINGi9606.ENSP00000223122

Structurei

3D structure databases

ProteinModelPortaliQ9NS00
SMRiQ9NS00
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2246 Eukaryota
ENOG410YRJG LUCA
GeneTreeiENSGT00530000063264
HOGENOMiHOG000021316
HOVERGENiHBG097900
InParanoidiQ9NS00
KOiK00731
OMAiYQPTLPE
OrthoDBiEOG091G0BLV
PhylomeDBiQ9NS00
TreeFamiTF317293

Family and domain databases

InterProiView protein in InterPro
IPR026842 C1GALT1
IPR003378 Fringe-like
PANTHERiPTHR23033:SF13 PTHR23033:SF13, 1 hit
PfamiView protein in Pfam
PF02434 Fringe, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NS00-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASKSWLNFL TFLCGSAIGF LLCSQLFSIL LGEKVDTQPN VLHNDPHARH
60 70 80 90 100
SDDNGQNHLE GQMNFNADSS QHKDENTDIA ENLYQKVRIL CWVMTGPQNL
110 120 130 140 150
EKKAKHVKAT WAQRCNKVLF MSSEENKDFP AVGLKTKEGR DQLYWKTIKA
160 170 180 190 200
FQYVHEHYLE DADWFLKADD DTYVILDNLR WLLSKYDPEE PIYFGRRFKP
210 220 230 240 250
YVKQGYMSGG AGYVLSKEAL KRFVDAFKTD KCTHSSSIED LALGRCMEIM
260 270 280 290 300
NVEAGDSRDT IGKETFHPFV PEHHLIKGYL PRTFWYWNYN YYPPVEGPGC
310 320 330 340 350
CSDLAVSFHY VDSTTMYELE YLVYHLRPYG YLYRYQPTLP ERILKEISQA
360
NKNEDTKVKL GNP
Length:363
Mass (Da):42,203
Last modified:October 1, 2000 - v1
Checksum:i01F472B55C5F526F
GO
Isoform 2 (identifier: Q9NS00-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     297-363: GPGCCSDLAV...EDTKVKLGNP → VSLEILLLCQYLD

Note: No experimental confirmation available.
Show »
Length:309
Mass (Da):35,935
Checksum:i8FF6B139ED96421D
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024809297 – 363GPGCC…KLGNP → VSLEILLLCQYLD in isoform 2. 1 PublicationAdd BLAST67

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155582 mRNA Translation: AAF81981.1
AJ132443 mRNA Translation: CAC45046.1
AJ278960 mRNA Translation: CAC82373.1
AJ243256 mRNA Translation: CAC80435.1
AC005532 Genomic DNA Translation: AAQ96887.1
CH236948 Genomic DNA Translation: EAL24308.1
BC003174 mRNA Translation: AAH03174.1
CCDSiCCDS5355.1 [Q9NS00-1]
RefSeqiNP_064541.1, NM_020156.4 [Q9NS00-1]
XP_011513755.1, XM_011515453.2 [Q9NS00-1]
XP_011513757.1, XM_011515455.2 [Q9NS00-1]
XP_011513758.1, XM_011515456.2 [Q9NS00-1]
XP_016867931.1, XM_017012442.1 [Q9NS00-1]
XP_016867932.1, XM_017012443.1 [Q9NS00-1]
XP_016867933.1, XM_017012444.1 [Q9NS00-1]
XP_016867934.1, XM_017012445.1 [Q9NS00-1]
XP_016867935.1, XM_017012446.1 [Q9NS00-1]
XP_016867936.1, XM_017012447.1 [Q9NS00-1]
XP_016867937.1, XM_017012448.1 [Q9NS00-1]
UniGeneiHs.239666
Hs.735517

Genome annotation databases

EnsembliENST00000223122; ENSP00000223122; ENSG00000106392 [Q9NS00-1]
ENST00000402468; ENSP00000384550; ENSG00000106392 [Q9NS00-2]
ENST00000436587; ENSP00000389176; ENSG00000106392 [Q9NS00-1]
GeneIDi56913
KEGGihsa:56913
UCSCiuc003sra.5 human [Q9NS00-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiC1GLT_HUMAN
AccessioniPrimary (citable) accession number: Q9NS00
Secondary accession number(s): Q96QH4, Q9BTU1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: October 1, 2000
Last modified: May 23, 2018
This is version 119 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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

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