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C1galt1
Gene Detail
 Symbol
Name
ID
C1galt1
core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
MGI:2151071
Synonyms 2210410E06Rik, core 1 beta3-Gal-T, T-synthase
Feature Type protein coding gene
Genetic Map
Chromosome 6
3.37 cM, cytoband A1
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr6:7844842-7872047 bp, + strand
From VEGA annotation of GRCm38

  27206 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10599  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Gene Tree: C1galt1

Human
homologs
Human Homolog C1GALT1, core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
NCBI Gene ID 56913
neXtProt AC  NX_Q9NS00
Human Synonyms  C1GALT, T-synthase
Human Chr (Location)  7p21.3; chr7:7182547-7248651 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Chemically induced (ENU)(1) Gene trapped(4) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Embryos homozygous for a null allele show impaired angiogenesis, chaotic microvascular networks in brain, and fatal hemorrhage by E14. Eggs homozygous for another null allele show a slightly thinner zona pellucida. Mice homozygous for an ENU-induced allele develop thrombocytopenia and renal disease.
 
Phenotype Images(4)
Interactions
C1galt1 interacts with 184 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process angiogenesis, cell differentiation, ...
Component integral component of membrane, membrane
Function galactosyltransferase activity, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (217)    Tissues (107)    Images (32)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 217
cDNA source data(11)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(11) cDNA(11)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000023144 (Evidence)
Ensembl Gene ModelENSMUSG00000042460 (Evidence)
Entrez Gene94192 (Evidence)
DFCITC1584214, TC1602347, TC1635736
DoTSDT.101325928, DT.486633
NIA Mouse Gene IndexU006531
EC2.4.1.122
Consensus CDS ProjectCCDS19908.1
International Mouse Knockout Project StatusC1galt1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023144 VEGA Gene Model | MGI Sequence Detail 27206 C57BL/6J ±  kb
transcript OTTMUST00000055938 VEGA | MGI Sequence Detail 2452 Not Applicable 
polypeptide OTTMUSP00000026842 VEGA | MGI Sequence Detail 363 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(2) UniProt(1)
Polymorphisms SNPs within 2kb(194 from dbSNP Build 137)    SNPs within 2kb including multiple locations(202)
Protein-related
information
ResourceIDDescription
InterPro IPR026842 C1GALT1
InterPro IPR003378 Fringe-like
Protein Ontology PR:000004873 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
References (Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:202276 Kudo T, et al., C1galt1-deficient mice exhibit thrombocytopenia due to abnormal terminal differentiation of megakaryocytes. Blood. 2013 Aug 29;122(9):1649-57
All references(46)
Other
accession IDs
MGI:1917425, MGI:2141630

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
08/12/2014
MGI 5.19
The Jackson Laboratory