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 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:119759529-119764005 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human C1GALT1C1

Alleles and phenotypes

All alleles(16) : Targeted(6) Gene trapped(10)
 

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.

 

Gene Ontology (GO) classifications

All GO classifications: (4 annotations)

Process	biological_process
Component	integral to membrane, membrane
Function	molecular_function

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)   
Theiler Stages: 22

Assay Type	Results
RNA in situ	94

cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(8) cDNA(8)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000017234 (Evidence)
Ensembl Gene Model	ENSMUSG00000048970 (Evidence)
Entrez Gene	59048 (Evidence)
DFCI	TC1577082, TC1634178
DoTS	DT.531063, DT.94335815
Consensus CDS Project	CCDS30095.1
International Mouse Knockout Project Status	C1galt1c1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017234	VEGA Gene Model | MGI Sequence Detail	4303	C57BL/6J
transcript	OTTMUST00000041717	VEGA | MGI Sequence Detail	1449	Not Applicable
polypeptide	OTTMUSP00000018745	VEGA | MGI Sequence Detail	316	Not Applicable

All sequences(27) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(15 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(37)

Other accession IDs

MGI:1927553, MGI:2148065