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Col5a1 collagen, type V, alpha 1 [ Mus musculus (house mouse) ]

Gene ID: 12831, updated on 9-Dec-2024

Summary

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Official Symbol
Col5a1provided by MGI
Official Full Name
collagen, type V, alpha 1provided by MGI
Primary source
MGI:MGI:88457
See related
Ensembl:ENSMUSG00000026837 AllianceGenome:MGI:88457
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
An extracellular matrix structural constituent. Acts upstream of or within several processes, including circulatory system development; collagen fibril organization; and tendon development. Located in basement membrane. Part of collagen trimer. Is expressed in several structures, including bone; embryo ectoderm; embryo mesenchyme; genitourinary system; and heart. Used to study Ehlers-Danlos syndrome classic type 1. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 1. Orthologous to human COL5A1 (collagen type V alpha 1 chain). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Broad expression in limb E14.5 (RPKM 82.9), bladder adult (RPKM 28.4) and 15 other tissues See more
Orthologs
human all
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Genomic context

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See Col5a1 in Genome Data Viewer
Location:
2 A3; 2 19.38 cM
Exon count:
67
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (27776393..27929522)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (27886381..28039510)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene retinoid X receptor alpha Neighboring gene STARR-seq mESC enhancer starr_04015 Neighboring gene STARR-seq mESC enhancer starr_04016 Neighboring gene STARR-seq mESC enhancer starr_04017 Neighboring gene predicted gene, 39777 Neighboring gene predicted gene 13372 Neighboring gene RIKEN cDNA F730016J06 gene Neighboring gene ficolin B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. Greenspan DS, et al. Genomics, 1995 Feb 10. PMID 7759113
  2. Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model. Sun M, et al. J Cell Sci, 2011 Dec 1. PMID 22159420, Free PMC Article
  3. Collagen V localizes to pericellular sites during tendon collagen fibrillogenesis. Smith SM, et al. Matrix Biol, 2014 Jan. PMID 23954412, Free PMC Article
  4. Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype. Sun M, et al. Am J Pathol, 2015 May. PMID 25797646, Free PMC Article
  5. Identification of a functional CBF-binding CCAAT-like motif in the core promoter of the mouse pro-alpha 1(V) collagen gene (Col5a1). Sakata-Takatani K, et al. Matrix Biol, 2004 May. PMID 15246108

See all (98) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A potential mechanism by which aspiration of duodenogastric fluid augments the risk for bronchiolitis obliterans syndrome after lung transplantation.
    Title: A potential mechanism by which aspiration of duodenogastric fluid augments the risk for bronchiolitis obliterans syndrome after lung transplantation.
  2. Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome.
    Title: Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome.
  3. Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers-Danlos syndrome.
    Title: Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers-Danlos syndrome.
  4. Collagen V insufficiency in a mouse model for Ehlers Danlos-syndrome affects viscoelastic biomechanical properties explaining thin and brittle corneas.
    Title: Collagen V insufficiency in a mouse model for Ehlers Danlos-syndrome affects viscoelastic biomechanical properties explaining thin and brittle corneas.
  5. COL5A1 may contribute the metastasis of lung adenocarcinoma.
    Title: COL5A1 may contribute the metastasis of lung adenocarcinoma.
  6. Significantly decreased fibroblast proliferation was observed in Col5a1(+/-) compared to Col5a1(+/+) fibroblasts.
    Title: Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome.
  7. Col5a1 knockout stroma demonstrated severe dysfunctional regulation of fibrillogenesis.
    Title: Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.
  8. Sp7/Osterix was observed to participate in the activation of the Col5a1 promoter during osteoblast differentiation.
    Title: Sp7/Osterix is involved in the up-regulation of the mouse pro-α1(V) collagen gene (Col5a1) in osteoblastic cells.
  9. Col(V) is an established autoantigen in atherosclerotic mice, and Col(V) autoimmunity is a consistent feature, with variable T helper type (Th)1 cell pathway involvement.
    Title: Interleukin-17-dependent autoimmunity to collagen type V in atherosclerosis.
  10. collagen type V has a critical role in early fibril initiation
    Title: Type V collagen controls the initiation of collagen fibril assembly.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables extracellular matrix structural constituent IDA
Inferred from Direct Assay
more info
 PubMed 
enables extracellular matrix structural constituent conferring tensile strength IBA
Inferred from Biological aspect of Ancestor
more info
  
enables extracellular matrix structural constituent conferring tensile strength RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables heparin binding IEA
Inferred from Electronic Annotation
more info
  
enables heparin binding ISO
Inferred from Sequence Orthology
more info
  
enables platelet-derived growth factor binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables proteoglycan binding IEA
Inferred from Electronic Annotation
more info
  
enables proteoglycan binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within blood vessel development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in cell adhesion ISO
Inferred from Sequence Orthology
more info
  
involved_in cell migration ISO
Inferred from Sequence Orthology
more info
  
involved_in collagen biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in collagen biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in collagen fibril organization IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within collagen fibril organization IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in collagen fibril organization ISO
Inferred from Sequence Orthology
more info
  
involved_in eye morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in eye morphogenesis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within heart morphogenesis IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in integrin biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in integrin biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of endodermal cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of endodermal cell differentiation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of cellular component organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within skin development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in skin development ISO
Inferred from Sequence Orthology
more info
  
involved_in supramolecular fiber organization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within tendon development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within tendon development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in wound healing, spreading of epidermal cells IEA
Inferred from Electronic Annotation
more info
  
involved_in wound healing, spreading of epidermal cells ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in basement membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of collagen trimer IDA
Inferred from Direct Assay
more info
 PubMed 
part_of collagen trimer IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of collagen type V trimer IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of collagen type V trimer IEA
Inferred from Electronic Annotation
more info
  
part_of collagen type V trimer ISO
Inferred from Sequence Orthology
more info
  
part_of collagen type XI trimer NAS
Non-traceable Author Statement
more info
 PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in collagen-containing extracellular matrix ISO
Inferred from Sequence Orthology
more info
  
located_in collagen-containing extracellular matrix NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
collagen alpha-1(V) chain
Names
alpha1(V) collagen
pro-alpha1(V) collagen
procollagen type V alpha 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015734.2 → NP_056549.2  collagen alpha-1(V) chain precursor

    See identical proteins and their annotated locations for NP_056549.2

    Status: VALIDATED

    Source sequence(s)
    AB009993, AK148055, AL731778, BP759660, BQ768928, BQ885116, BY713878
    Consensus CDS
    CCDS15831.1
    UniProtKB/Swiss-Prot
    A3KGE3, O88207, Q3UG94, Q6F6B0
    UniProtKB/TrEMBL
    B1AWB9
    Related
    ENSMUSP00000028280.8, ENSMUST00000028280.14
    Conserved Domains (3) summary
    pfam01391
    Location:871 → 930
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:39 → 230
    TSPN; Thrombospondin N-terminal -like domains
    pfam01410
    Location:1610 → 1836
    COLFI; Fibrillar collagen C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    27776393..27929522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006497644.5 → XP_006497707.1  collagen alpha-1(V) chain isoform X1

    Conserved Domains (3) summary
    pfam01391
    Location:871 → 930
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:39 → 230
    TSPN; Thrombospondin N-terminal -like domains
    pfam01410
    Location:1607 → 1836
    COLFI; Fibrillar collagen C-terminal domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O88207.2 GenPept UniProtKB/Swiss-Prot:O88207

Gene LinkOut

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