C1GALT1C1 (C1GALT1 specific chaperone 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29071
Gene name Gene Name - the full gene name approved by the HGNC.
C1GALT1 specific chaperone 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C1GALT1C1
Synonyms (NCBI Gene) Gene synonyms aliases
AHUS8, C1GALT2, C38H2-L1, COSMC, HSPC067, MST143, TNPS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AHUS8, TNPS
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq24
Summary Summary of gene provided in NCBI Entrez Gene.
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 lack
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs17261572 A>T Pathogenic Coding sequence variant, missense variant
rs137853598 G>A Pathogenic Coding sequence variant, stop gained
rs137853599 C>T Pathogenic Coding sequence variant, missense variant
rs397514537 A>G Pathogenic Missense variant, coding sequence variant
rs587776928 C>G Pathogenic Missense variant, initiator codon variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(68)
miRTarBase ID miRNA Experiments Reference
MIRT028779 hsa-miR-26b-5p Microarray 19088304
MIRT718801 hsa-miR-3622a-3p HITS-CLIP 19536157
MIRT718800 hsa-miR-3622b-3p HITS-CLIP 19536157
MIRT718799 hsa-miR-6765-3p HITS-CLIP 19536157
MIRT718798 hsa-miR-544b HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 21496458
GO:0006493 Process Protein O-linked glycosylation IMP 21383503
GO:0016021 Component Integral component of membrane IEA
GO:0016263 Function Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300611 24338 ENSG00000171155
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96EU7
Protein name C1GALT1-specific chaperone 1 (C38H2-like protein 1) (C38H2-L1) (Core 1 beta1,3-galactosyltransferase 2) (C1Gal-T2) (C1GalT2) (Core 1 beta3-Gal-T2) (Core 1 beta3-galactosyltransferase-specific molecular chaperone)
Protein function 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/s
Family and domains
Tissue specificity TISSUE SPECIFICITY: 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
Sequence 
MLSESSSFLKGVMLGSIFCALITMLGHIRIGHGNRMHHHEHHHLQAPNKEDILKISEDER
MELSKSFRVYCIILVKPKDVSLWAAVKETWTKHCDKAEFFSSENVKVFESINMDTNDMWL
MMRKAYKYAFDKYRDQYNWFFLARPTTFAIIENLKYFLLKKDPSQPFYLGHTIKSGDLEY
VGMEGGIVLSVESMKRLNSLLNIPEKCPEQGGMIWKISEDKQLAVCLKYAGVFAENAEDA
DGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDMAVTFNGLTPNQMHVMMYGVYRLRAFG
HIFNDALVFLPPNGSDND
Sequence length 318
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Polyagglutinable erythrocyte syndrome Tn Syndrome rs137853598, rs137853599, rs397514537, rs587776928, rs778819609 27604308, 18537974, 16251947, 27536663
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Hemolytic Uremic Syndrome hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature GenCC
Show/Hide Text Mining Associations (28)
Associations from Text Mining
Disease Name Relationship Type References
Acute Kidney Injury Associate 37216524
Adenocarcinoma of Lung Associate 33050853
Atypical Hemolytic Uremic Syndrome Associate 36599939
Brachydactyly type A1 Associate 28187132
Breast Neoplasms Associate 24039759, 25951175
Colorectal Neoplasms Associate 26045765, 29999571, 30115016, 30637914
Colorectal Neoplasms Stimulate 31633299
COVID 19 Associate 35239653
Death Associate 35239653
Developmental Disabilities Associate 37216524