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Protein Coding Gene : C1galt1c1 C1GALT1-specific chaperone 1

Primary Identifier  MGI:1913493 Organism  mouse, laboratory
Chromosome  X NCBI Gene Number  59048
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. Acts upstream of or within platelet activation; platelet morphogenesis; and protein O-linked glycosylation. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in Tn polyagglutination syndrome and hemolytic-uremic syndrome. Orthologous to human C1GALT1C1 (C1GALT1 specific chaperone 1).
PHENOTYPE: Male mice hemizygous for a knock-out allele exhibit embryonic lethality with hemorrhaging. Female mice heterozygous for a knock-out allele exhibit some embryonic lethality with hemorrhage and disorganized vascular system and surviving mice dieing postnatally. [provided by MGI curators]
  • synonyms:
  • Cosmc,
  • MGI:1927553,
  • C1galt1c1,
  • MGI:2148065,
  • 1500002I11Rik,
  • C1GALT1-specific chaperone 1,
  • RIKEN cDNA 1500002I11 gene,
  • C81205,
  • expressed sequence C81205

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For