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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
  • Alliance
  • Transcription Start Sites
    58 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:94936224-94953042 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 59.01 cM, cytoband D
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    95 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88467
protein coding gene Chr11:94936224-94953042 (.)
129S1/SvImJ MGP_129S1SvImJ_G0018970
protein coding gene Chr11:97117026-97133784 (+)
A/J MGP_AJ_G0018938
protein coding gene Chr11:93195306-93212184 (+)
AKR/J MGP_AKRJ_G0018908
protein coding gene Chr11:96073610-96090417 (+)
BALB/cJ MGP_BALBcJ_G0018911
protein coding gene Chr11:93660895-93677654 (+)
C3H/HeJ MGP_C3HHeJ_G0018725
protein coding gene Chr11:96203248-96220136 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019363
protein coding gene Chr11:100181204-100199590 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016994
protein coding gene Chr11:90680768-90697497 (+)
CAST/EiJ MGP_CASTEiJ_G0018279
protein coding gene Chr11:96991278-97008081 (+)
CBA/J MGP_CBAJ_G0018696
protein coding gene Chr11:104264632-104281523 (+)
DBA/2J MGP_DBA2J_G0018804
protein coding gene Chr11:92770940-92787782 (+)
FVB/NJ MGP_FVBNJ_G0018793
protein coding gene Chr11:92232606-92249398 (+)
LP/J MGP_LPJ_G0018874
protein coding gene Chr11:97681301-97698159 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018820
protein coding gene Chr11:104329893-104346658 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019403
protein coding gene Chr11:96334674-96351444 (+)
PWK/PhJ MGP_PWKPhJ_G0018050
protein coding gene Chr11:93676368-93693333 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017839
protein coding gene Chr11:96018756-96035604 (+)
WSB/EiJ MGP_WSBEiJ_G0018328
protein coding gene Chr11:96252618-96271741 (+)



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: HomoloGene, HGNC
  • Synonyms
    EDSARTH1, EDSC, OI1, OI2, OI3, OI4
  • Links
    NCBI Gene ID: 1277
    neXtProt AC: NX_P02452
    UniProt: P02452

  • Chr Location
    17q21.33; chr17:50184096-50201648 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    5 with Col1a1 mouse models; 6 with human COL1A1 associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 2 models
IDs
View 1 model
IDs
View 3 models
      
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    19 with disease annotations
  • References
    17 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    153 phenotypes from 19 alleles in 18 genetic backgrounds
    313 phenotypes from multigenic genotypes
    10 images
    276 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.
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
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 12842 NCBI Gene Model | MGI Sequence Detail 16819 C57BL/6J ±  kb
    transcript NM_007742 RefSeq | MGI Sequence Detail 5946 C57BL/6  
    polypeptide P11087 UniProt | EBI | MGI Sequence Detail 1453 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      Genomic 12
      cDNA 28
      Primer pair 8
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12362, MGD-MRK-12380, MGD-MRK-2059, MGD-MRK-2087, MGD-MRK-2089
    References
    more
    • Summaries
      All 772
      Developmental Gene Expression 350
      Diseases 17
      Gene Ontology 34
      Phenotypes 276
    • 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:265885 Ratnadiwakara M, et al., SRSF3 promotes pluripotency through Nanog mRNA export and coordination of the pluripotency gene expression program. Elife. 2018 May 9;7

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory