About   Help   FAQ
C1galt1c1 Gene Detail
Summary
  • Symbol
    C1galt1c1
  • Name
    C1GALT1-specific chaperone 1
  • Synonyms
    1500002I11Rik, C81205, Cosmc
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913493
    NCBI Gene: 59048
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:38630785-38635087 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 22.91 cM, cytoband A2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    15 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913493
protein coding gene ChrX:38630783-38635143 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035668
protein coding gene ChrX:33605986-33610302 (-)
A/J MGP_AJ_G0035653
protein coding gene ChrX:33658654-33662956 (-)
AKR/J MGP_AKRJ_G0035570
protein coding gene ChrX:34451010-34455312 (-)
BALB/cJ MGP_BALBcJ_G0035637
protein coding gene ChrX:33359182-33363484 (-)
C3H/HeJ MGP_C3HHeJ_G0035341
protein coding gene ChrX:33968967-33973269 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036168
protein coding gene ChrX:34377737-34382039 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033020
protein coding gene ChrX:32062420-32066671 (-)
CAST/EiJ MGP_CASTEiJ_G0034632
protein coding gene ChrX:21968591-21972917 (-)
CBA/J MGP_CBAJ_G0035315
protein coding gene ChrX:35244560-35248862 (-)
DBA/2J MGP_DBA2J_G0035469
protein coding gene ChrX:33492407-33496713 (-)
FVB/NJ MGP_FVBNJ_G0035418
protein coding gene ChrX:33241558-33245860 (-)
LP/J MGP_LPJ_G0035557
protein coding gene ChrX:34002210-34006526 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035456
protein coding gene ChrX:35579386-35583688 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036184
protein coding gene ChrX:33650844-33655146 (-)
PWK/PhJ MGP_PWKPhJ_G0034333
protein coding gene ChrX:21545705-21550142 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034178
protein coding gene ChrX:22511350-22515707 (-)
WSB/EiJ MGP_WSBEiJ_G0034778
protein coding gene ChrX:33332271-33336589 (-)



Homology
more
  • Human Ortholog
    C1GALT1C1, C1GALT1 specific chaperone 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    C1GALT1C1, C1GALT1 specific chaperone 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C1GALT2, C38H2-L1, COSMC, HSPC067, MST143, TNPS
  • Links
    NCBI Gene ID: 29071
    neXtProt AC: NX_Q96EU7
    UniProt: Q96EU7

  • Chr Location
    Xq24; chrX:120625674-120630150 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    9 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000048970 Ensembl Gene Model | MGI Sequence Detail 4303 C57BL/6J ±  kb
    transcript ENSMUST00000058265 Ensembl | MGI Sequence Detail 1449 Not Applicable  
    polypeptide ENSMUSP00000059224 Ensembl | MGI Sequence Detail 316 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 9

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1927553, MGI:2148065
    References
    more
    • Summaries
      All 35
      Developmental Gene Expression 1
      Gene Ontology 6
      Phenotypes 9
    • 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

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory