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Col5a1
Gene Detail
 Symbol
Name
ID
Col5a1
collagen, type V, alpha 1
MGI:88457
Feature Type protein coding gene
Genetic Map
Chromosome 2
19.38 cM, cytoband A2-B
Detailed Genetic Map ± 1 cM


Mapping data(13)
Sequence Map
Chr2:27886425-28039514 bp, + strand
From VEGA annotation of GRCm38

  153090 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55434  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Col5a1

Human
homologs
Human Homolog COL5A1, collagen, type V, alpha 1
NCBI Gene ID 1289
neXtProt AC  NX_P20908
Human Chr (Location)  9q34.2-q34.3; chr9:134641805-134844843 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human COL5A1
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome.
 
Human Diseases Modeled Using Mouse Col5a1 (2)    Alleles Annotated to Human Diseases(1)    Phenotype Images(8)
Interactions
Col5a1 interacts with 372 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process blood vessel development, cell adhesion, ...
Component basement membrane, collagen trimer, ...
Function extracellular matrix structural constituent, heparin binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (26 records)
Data Summary: Results (56)    Tissues (48)    Images (20)
Theiler Stages: 10, 13, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 10
RNA in situ 27
Northern blot 8
RT-PCR 9
RNase protection 2
cDNA source data(176)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(180) cDNA(177) Primer pair(2) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000011567 (Evidence)
Ensembl Gene ModelENSMUSG00000026837 (Evidence)
Entrez Gene12831 (Evidence)
UniGene7281
DFCITC1575549, TC1660590, TC1662370
DoTSDT.494651, DT.87072380
NIA Mouse Gene IndexU042269
Consensus CDS ProjectCCDS15831.1
International Mouse Knockout Project StatusCol5a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011567 VEGA Gene Model | MGI Sequence Detail 153090 C57BL/6J ±  kb
transcript OTTMUST00000027017 VEGA | MGI Sequence Detail 8406 Not Applicable 
polypeptide OTTMUSP00000012312 VEGA | MGI Sequence Detail 1838 Not Applicable 

For the selected sequences
All sequences(37) RefSeq(4) UniProt(3)
Polymorphisms RFLP(2) : SNPs within 2kb(1349 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR008985 Concanavalin A-like lectin/glucanases superfamily
InterPro IPR013320 Concanavalin A-like lectin/glucanase, subgroup
InterPro IPR000885 Fibrillar collagen, C-terminal
InterPro IPR001791 Laminin G domain
Protein Ontology PR:000003345 collagen alpha-1(V) chain
References (Earliest) J:12787 Mattei MG, et al., Mouse alpha 1 type V collagen gene maps to the [A2-B] region of chromosome 2. Genomics. 1993 Jun;16(3):786-8
(Latest) J:185210 Kiyozumi D, et al., Basement membrane assembly of the integrin alpha8beta1 ligand nephronectin requires Fraser syndrome-associated proteins. J Cell Biol. 2012 May 28;197(5):677-89
All references(75)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-2071, MGI:2138923

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory