Gene Gene information from NCBI Gene database.
Entrez ID 56913
Gene name Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
Gene symbol C1GALT1
Synonyms (NCBI Gene)
C1GALTT-synthase
Chromosome 7
Chromosome location 7p22.1-p21.3
Summary The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glyco
miRNA miRNA information provided by mirtarbase database.
351
miRTarBase ID miRNA Experiments Reference
MIRT019301 hsa-miR-148b-3p Microarray 17612493
MIRT019740 hsa-miR-375 Microarray 20215506
MIRT027469 hsa-miR-98-5p Microarray 19088304
MIRT052502 hsa-let-7a-5p CLASH 23622248
MIRT052034 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis IMP 17228361
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610555 24337 ENSG00000106392
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NS00
Protein name Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (EC 2.4.1.122) (B3Gal-T8) (Core 1 O-glycan T-synthase) (Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1) (Beta-1,3-galactosyltransferase) (Core 1 beta1,3
Protein function 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 (PubMed:11677243). Plays a central role in many processes, such as angiogenesi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02434 Fringe 84 272 Fringe-like Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in kidney, heart, placenta and liver. {ECO:0000269|PubMed:11677243}.
Sequence
MASKSWLNFLTFLCGSAIGFLLCSQLFSILLGEKVDTQPNVLHNDPHARHSDDNGQNHLE
GQMNFNADSSQHKDENTDIAENLYQKVRILCWVMTGPQNLEKKAKHVKATWAQRCNKVLF
MSSEENKDFPAVGLKTKEGRDQLYWKTIKAFQYVHEHYLEDADWFLKADDDTYVILDNLR
WLLSKYDPEEPIYFGRRFKPYVKQGYMSGGAGYVLSKEALKRFVDAFKTDKCTHSSSIED
LALGRCMEIMNVEAGDSRDTIGKETFHPFVPE
HHLIKGYLPRTFWYWNYNYYPPVEGPGC
CSDLAVSFHYVDSTTMYELEYLVYHLRPYGYLYRYQPTLPERILKEISQANKNEDTKVKL
GNP
Sequence length 363
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mucin type O-glycan biosynthesis
Other types of O-glycan biosynthesis
Metabolic pathways
  Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
O-linked glycosylation of mucins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer Benign rs41282685 RCV005904671
Sarcoma Benign rs41282685 RCV005904669
Thyroid cancer, nonmedullary, 1 Benign rs41282685 RCV005904670
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bone Diseases Associate 37040171
Brachydactyly type A1 Associate 28187132
Breast Neoplasms Associate 37040171
Colitis Associate 33040455
Colorectal Neoplasms Associate 23536887, 29999571, 30035127, 30115016
Endometrial Neoplasms Inhibit 36745330
Ermine phenotype Associate 28187132
Fibroma Ossifying Associate 34188021
Galactosemias Associate 28209808, 32677771, 33593824
Glomerulonephritis IGA Associate 17228361, 17315006, 19357720, 20959392, 26063800, 26125729, 28209808, 32945407, 33593824