• Gene id: 29071

Gene Summary

• Gene Symbol: C1GALT1C1   Gene   UCSC   Ensembl
• Aliases: C1GALT2, C38H2-L1, COSMC, HSPC067, MST143, TNPS
• Gene name: C1GALT1 specific chaperone 1
• Alternate names: C1GALT1-specific chaperone 1, C38H2-like protein 1, beta 1,3-galactosyltransferase 2, core 1 beta1,3-galactosyltransferase 2, core 1 beta3-Gal-T2, core 1 beta3-galactosyltransferase-specific molecular chaperone,
• Gene location: Xq24 (120630149: 120625673)     Exons: 3     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300611

Protein Summary

• Protein general information: Q96EU7  
  • 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)
  • Length: 318  
  • Mass: 36382
  • 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:

  MLSESSSFLKGVMLGSIFCALITMLGHIRIGHGNRMHHHEHHHLQAPNKEDILKISEDERMELSKSFRVYCIILV
  KPKDVSLWAAVKETWTKHCDKAEFFSSENVKVFESINMDTNDMWLMMRKAYKYAFDKYRDQYNWFFLARPTTFAI
  IENLKYFLLKKDPSQPFYLGHTIKSGDLEYVGMEGGIVLSVESMKRLNSLLNIPEKCPEQGGMIWKISEDKQLAV
  CLKYAGVFAENAEDADGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDMAVTFNGLTPNQMHVMMYGVYRLRAFG
  HIFNDALVFLPPNGSDND

• Structural information:
  • Interpro: IPR026731  
  • STRING: ENSP00000304364
• Other Databases: GeneCards:  C1GALT1C1  Malacards:  C1GALT1C1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016267	O-glycan processing, core 1	IBA	biological process
GO:0016263	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	IBA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006493	protein O-linked glycosylation	IMP	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030168	platelet activation	IEA	biological process
GO:0006493	protein O-linked glycosylation	IEA	biological process
GO:0036344	platelet morphogenesis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00514	Other types of O-glycan biosynthesis
hsa00512	Mucin type O-glycan biosynthesis

Diseases

Associated diseases	References
Tn syndrome	KEGG:H01188
Tn syndrome	KEGG:H01188
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray