COL5A1 (collagen type V alpha 1 chain)

2014-01-01  

Identity

HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
EDSC,EDSCL1,FMDMF
FUSION GENES

Other Information

Locus ID:

NCBI: 1289
MIM: 120215
HGNC: 2209
Ensembl: ENSG00000130635

Variants:

dbSNP: 1289
ClinVar: 1289
TCGA: ENSG00000130635
COSMIC: COL5A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130635ENST00000371817P20908
ENSG00000130635ENST00000371817A0A024R8E5
ENSG00000130635ENST00000371820H7BY82
ENSG00000130635ENST00000618395P20908

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
179657782007IL-17-dependent cellular immunity to collagen type V predisposes to obliterative bronchiolitis in human lung transplants.173
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
207198622010New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.60
207198622010New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.60
164306772006The COL5A1 gene and Achilles tendon pathology.48
164306772006The COL5A1 gene and Achilles tendon pathology.48
196544272009The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants.48
196544272009The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants.48
190429222009Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene.45
208476972010Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.42

Citation

Dessen P

COL5A1 (collagen type V alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53661/col5a1