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Col13a1 Gene Detail
Summary
  • Symbol
    Col13a1
  • Name
    collagen, type XIII, alpha 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277201
    NCBI Gene: 12817
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:61838236-61979108 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      140873 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 32.29 cM, cytoband B4
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    COL13A1, collagen type XIII alpha 1 chain
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL13A1, collagen type XIII alpha 1 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMS19, COLXIIIA1
  • Links
    NCBI Gene ID: 1305
    neXtProt AC: NX_Q5TAT6
    UniProt: Q5TAT6

  • Chr Location
    10q22.1; chr10:69801885-69959148 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human COL13A1 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 3 alleles in 3 genetic backgrounds
    20 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.
Mice homozygous for an allele lacking the transmembrane exhibit small muscle fibers and are susceptible to excerise-induced muscle damage and muscle inflammation. Mice homozygous for a knock-out allele exhibit tremors and abnormal neuromuscular junction morphology and endplate potential.
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 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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000021424 VEGA Gene Model | MGI Sequence Detail 140873 C57BL/6J ±  kb
    transcript OTTMUST00000050788 VEGA | MGI Sequence Detail 3162 Not Applicable  
    polypeptide OTTMUSP00000023796 VEGA | MGI Sequence Detail 739 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      932 from dbSNP Build 142
    • PCR
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      Genomic 3
      cDNA 12
      Primer pair 2

      Microarray probesets 4
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 7
      Gene Ontology 3
      Phenotypes 20
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:261214 Zainul Z, et al., Collagen XIII Is Required for Neuromuscular Synapse Regeneration and Functional Recovery after Peripheral Nerve Injury. J Neurosci. 2018 Apr 25;38(17):4243-4258

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory