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C1galt1 Gene Detail
Summary
  • Symbol
    C1galt1
  • Name
    core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
  • Synonyms
    2210410E06Rik, core 1 beta3-Gal-T, T-synthase
  • Feature Type
    protein coding gene
  • IDs
    MGI:2151071
    NCBI Gene: 94192
Location & Maps
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Homology
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  • Human Ortholog
    C1GALT1, core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    C1GALT1, core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C1GALT, T-synthase
  • Links
    NCBI Gene ID: 56913
    neXtProt AC: NX_Q9NS00

  • Chr Location
    7p21.3; chr7:7182547-7248651 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 6 alleles in 5 genetic backgrounds
    12 phenotypes from multigenic genotypes
    4 images
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    1
  • Gene trapped
    3
  • Targeted
    7
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    194 from dbSNP Build 137
Protein
Information
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Molecular
Reagents
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  • All nucleic 11
    cDNA 11

    Microarray probesets 6
Other
Accession IDs
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MGI:1917425, MGI:2141630
References
more
  • Summaries
    All 47
    Developmental Gene Expression 2
    Gene Ontology 7
    Phenotypes 23
  • 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:223727 Shao B, et al., O-glycans direct selectin ligands to lipid rafts on leukocytes. Proc Natl Acad Sci U S A. 2015 Jul 14;112(28):8661-6

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
02/02/2016
MGI 6.02
The Jackson Laboratory