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Col1a1 Gene Detail
Summary
  • Symbol
    Col1a1
  • Name
    collagen, type I, alpha 1
  • Synonyms
    Col1a-1, Cola1, Cola-1, Mov-13
  • Feature Type
    protein coding gene
  • IDs
    MGI:88467
    NCBI Gene: 12842
Location & Maps
more
  • Sequence Map
    Chr11:94936224-94953042 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16819 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 59.01 cM, cytoband D
  • Mapping Data
    16 experiments
Homology
more
  • Human Ortholog
    COL1A1, collagen type I alpha 1 chain
  • Vertebrate Orthologs
    9
  • Human Ortholog
    COL1A1, collagen type I alpha 1 chain
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EDSC, OI1, OI2, OI3, OI4
  • Links
    NCBI Gene ID: 1277
    neXtProt AC: NX_P02452

  • Chr Location
    17q21.33; chr17:50184096-50201648 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Col1a1 mouse models; 9 with human COL1A1 associations

Human Disease Mouse Models
       Osteogenesis Imperfecta, Type I; OI1   OMIM: 166200 View 2 models
Osteogenesis Imperfecta, Type II; OI2   OMIM: 166210 View 2 models
Osteogenesis Imperfecta, Type III; OI3   OMIM: 259420 View 1 model
Osteogenesis Imperfecta, Type IV; OI4   OMIM: 166220 View 1 model
       Caffey Disease   OMIM: 114000
Collagen, Type I, Alpha-1; COL1A1   OMIM: 120150
Ehlers-Danlos Syndrome, Classic Type   OMIM: 130000
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant   OMIM: 130060
Osteoporosis   OMIM: 166710
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    16 with disease annotations
  • References
    20 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    130 phenotypes from 18 alleles in 16 genetic backgrounds
    303 phenotypes from multigenic genotypes
    10 images
    205 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.
  • All Mutations and Alleles
    128
  • Chemically induced (ENU)
    3
  • Gene trapped
    3
  • Targeted
    120
  • Transgenic
    2
  • Genomic Mutations
    2 involving Col1a1
  • Incidental Mutations
Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, andaortic dissection.
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 OTTMUSG00000002059 VEGA Gene Model | MGI Sequence Detail 16819 C57BL/6J ±  kb
transcript OTTMUST00000004184 VEGA | MGI Sequence Detail 5930 Not Applicable  
polypeptide OTTMUSP00000002001 VEGA | MGI Sequence Detail 1453 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    95 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000003264 collagen alpha-1(I) chain
  • InterPro Domains
    IPR008160 Collagen triple helix repeat
    IPR000885 Fibrillar collagen, C-terminal
    IPR014716 Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1
    IPR001007 VWFC domain
Molecular
Reagents
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  • All nucleic 45
    Genomic 12
    cDNA 25
    Primer pair 7
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-12362, MGD-MRK-12380, MGD-MRK-2059, MGD-MRK-2087, MGD-MRK-2089
References
more
  • Summaries
    All 590
    Developmental Gene Expression 291
    Diseases 20
    Gene Ontology 29
    Phenotypes 205
  • Earliest
    J:6514 Jaenisch R, et al., Chromosomal position and activation of retroviral genomes inserted into the germ line of mice. Cell. 1981 May;24(2):519-29
  • Latest
    J:233766 Jiang Q, et al., Cbfb2 Isoform Dominates More Potent Cbfb1 and Is Required for Skeletal Development. J Bone Miner Res. 2016 Jul;31(7):1391-404

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
08/17/2016
MGI 6.05
The Jackson Laboratory