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C1galt1c1
Gene Detail
Symbol

Name
ID
C1galt1c1
C1GALT1-specific chaperone 1
MGI:1913493
Synonyms
1500002I11Rik, C81205, Cosmc
Feature Type
protein coding gene
Genetic Map
Chromosome X
22.91 cM, cytoband A2
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
ChrX:38630785-38635087 bp, - strand
From VEGA annotation of GRCm38

  4303 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10993  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: C1galt1c1

Human
homologs
Human Homolog C1GALT1C1, C1GALT1-specific chaperone 1
NCBI Gene ID 29071
neXtProt AC  NX_Q96EU7
Human Synonyms  C1GALT2, C38H2-L1, COSMC, MST143, TNPS
Human Chr (Location)  Xq24; chrX:120625674-120630150 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human C1GALT1C1
Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Gene trapped(10) Targeted(6)
 
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.
 
Interactions
C1galt1c1 interacts with 95 markers (Mir1b, Mir10a, Mir15b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (11 annotations)
Process platelet activation, platelet morphogenesis, ...
Component extracellular vesicular exosome, integral component of membrane, ...
Function molecular_function
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(8)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(8) cDNA(8)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000017234 (Evidence)
Ensembl Gene ModelENSMUSG00000048970 (Evidence)
Entrez Gene59048 (Evidence)
DFCITC1634178, TC1577082
DoTSDT.531063, DT.94335815
Consensus CDS ProjectCCDS30095.1
International Mouse Knockout Project StatusC1galt1c1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017234 VEGA Gene Model | MGI Sequence Detail 4303 C57BL/6J ±  kb
transcript OTTMUST00000041717 VEGA | MGI Sequence Detail 1449 Not Applicable 
polypeptide OTTMUSP00000018745 VEGA | MGI Sequence Detail 316 Not Applicable 

For the selected sequences
All sequences(28) RefSeq(2) UniProt(3)
Polymorphisms
SNPs within 2kb(15 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026731 C1GALT1-specific chaperone 1
Protein Ontology PR:000004874 C1GALT1-specific chaperone 1
References
(Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:190114 Wang Y, et al., Platelet biogenesis and functions require correct protein O-glycosylation. Proc Natl Acad Sci U S A. 2012 Oct 2;109(40):16143-8
All references(39)
Other
accession IDs
MGI:1927553, MGI:2148065

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory