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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
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:37719662-37723964 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 22.91 cM, cytoband A2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    135 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:37719660-37724020 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    C1GALT1C1, C1GALT1 specific chaperone 1
  • Synonyms
    AHUS8, C1GALT2, C38H2-L1, COSMC, HSPC067, MST143, TNPS
  • Links
    NCBI Gene ID: 29071
    neXtProt AC: NX_Q96EU7
    UniProt: Q96EU7

  • Chr Location
    Xq24; chrX:120625674-120630054 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human C1GALT1C1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    16 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.
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
    12
  • GO References
    7
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
membraneless 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
    800
  • Tissues
    94
  • cDNA Data
    9
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 43
      Developmental Gene Expression 1
      Gene Ontology 7
      Phenotypes 16
    • 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:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory