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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:7845224-7872042 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 3.37 cM, cytoband A1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    190 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2151071
 protein coding gene Chr6:7844842-7875687 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030445
 protein coding gene Chr6:4731975-4767795 (+)
A/J MGP_AJ_G0030418
 protein coding gene Chr6:4608274-4639004 (+)
AKR/J MGP_AKRJ_G0030345
 protein coding gene Chr6:4758204-4788977 (+)
BALB/cJ MGP_BALBcJ_G0030427
 protein coding gene Chr6:4563095-4594519 (+)
C3H/HeJ MGP_C3HHeJ_G0030141
 protein coding gene Chr6:4648069-4680409 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030882
 protein coding gene Chr6:4883310-4918090 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028093
 protein coding gene Chr6:4119092-4152087 (+)
CAST/EiJ MGP_CASTEiJ_G0029542
 protein coding gene Chr6:4638216-4669972 (+)
CBA/J MGP_CBAJ_G0030119
 protein coding gene Chr6:5017642-5050997 (+)
DBA/2J MGP_DBA2J_G0030263
 protein coding gene Chr6:4542154-4572871 (+)
FVB/NJ MGP_FVBNJ_G0030217
 protein coding gene Chr6:4514605-4545942 (+)
LP/J MGP_LPJ_G0030350
 protein coding gene Chr6:4720914-4751692 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030253
 protein coding gene Chr6:5106949-5139293 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030912
 protein coding gene Chr6:4665481-4696231 (+)
PWK/PhJ MGP_PWKPhJ_G0029257
 protein coding gene Chr6:4417640-4448946 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029093
 protein coding gene Chr6:4684626-4717210 (+)
WSB/EiJ MGP_WSBEiJ_G0029619
 protein coding gene Chr6:4633046-4663603 (+)



Homology
more
  • Human Ortholog
    C1GALT1, core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    C1GALT1, core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
  • Synonyms
    C1GALT, T-synthase
  • Links
    NCBI Gene ID: 56913
    neXtProt AC: NX_Q9NS00
    UniProt: Q9NS00

  • Chr Location
    7p22.1-p21.3; chr7:7156934-7248616 (+)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 7 alleles in 6 genetic backgrounds
    40 phenotypes from multigenic genotypes
    4 images
    38 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    15
  • GO References
    8
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    923
  • Tissues
    107
  • cDNA Data
    12
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 94192 NCBI Gene Model | MGI Sequence Detail 26819 C57BL/6J ±  kb
    transcript NM_052993 RefSeq | MGI Sequence Detail 2084 Not Specified  
    polypeptide Q9JJ06 UniProt | EBI | MGI Sequence Detail 363 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 12

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1917425, MGI:2141630
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 8
      Phenotypes 38
    • 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:344225 Faber JE, et al., Large differences in collateral blood vessel abundance among individuals arise from multiple genetic variants. J Cereb Blood Flow Metab. 2023 Nov;43(11):1983-2004
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory