Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56913
Gene name Gene Name - the full gene name approved by the HGNC.
Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C1GALT1
Synonyms (NCBI Gene) Gene synonyms aliases
C1GALT, T-synthase
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.1-p21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001525 Process Angiogenesis IMP 17228361
GO:0001822 Process Kidney development IMP 17228361
GO:0005515 Function Protein binding IPI 21496458
GO:0016021 Component Integral component of membrane IDA 11677243
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610555 24337 ENSG00000106392
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
30595370
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30940143 ClinVar
Diabetes Diabetes GWAS
Coronary artery disease Coronary artery disease GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
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