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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

HCOP human homology predictions: COL5A1
Gene Tree: Col5a1

Human
homologs
COL5A1, collagen, type V, alpha 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 1289
neXtProt AC: NX_P20908

Human Synonyms: EDSC

Human Chr (Location): 9q34.2-q34.3; chr9:134641786-134844843 (+)  GRCh38.p2

Disease Associations: (1) 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 in Mice Using Col5a1 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(8)
Interactions
Col5a1 interacts with 371 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (34 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: (27 records)
Data Summary: Results (56)    Tissues (48)    Images (20)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 10
RNA in situ 27
Northern blot 8
RT-PCR 9
RNase protection 2
cDNA source data(176)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA COL5A1 ; Xenbase col5a1 ; ZFIN col5a1    NEW 
Molecular
reagents
All nucleic(180) cDNA(177) Primer pair(2) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000011567 (Evidence)
Ensembl Gene Model ENSMUSG00000026837 (Evidence)
Entrez Gene 12831 (Evidence)
UniGene 7281
DFCI TC1575549, TC1660590, TC1662370
DoTS DT.494651, DT.87072380
NIA Mouse Gene Index U042269
Consensus CDS Project CCDS15831.1
International Mouse Phenotyping Consortium Status Col5a1
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 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:218158 Turner CJ, et al., alpha5 and alphav integrins cooperate to regulate vascular smooth muscle and neural crest functions in vivo. Development. 2015 Feb 15;142(4):797-808
All references(76)
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
06/30/2015
MGI 5.22
The Jackson Laboratory