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COL6A5
Identifiers
Aliases	COL6A5, collagen, type VI, alpha 5, COL29A1, VWA4, collagen type VI alpha 5, collagen type VI alpha 5 chain
External IDs	OMIM: 611916; MGI: 3648134; HomoloGene: 122792; GeneCards: COL6A5; OMA:COL6A5 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3q22.1 Start 130,345,516 bp End 130,484,844 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9 F1|9 Start 105,733,277 bp End 105,837,842 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh testicle upper lobe of left lung skin of hip right lung lower lobe of lung duodenum skin of abdomen visceral pleura left testis Top expressed in primary oocyte secondary oocyte white adipose tissue ovary urinary bladder zygote colon esophagus Hypothalamus adrenal gland More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding extracellular matrix structural constituent conferring tensile strength Cellular component collagen extracellular matrix extracellular region collagen-containing extracellular matrix Biological process cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 256076 665033 Ensembl ENSG00000172752 ENSMUSG00000091345 UniProt A8TX70 H0Y935 A6H584 RefSeq (mRNA) NM_001278298 NM_153264 NM_001167923 RefSeq (protein) NP_001265227 NP_694996 NP_001161395 Location (UCSC) Chr 3: 130.35 – 130.48 Mb Chr 9: 105.73 – 105.84 Mb PubMed search
Wikidata
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Collagen alpha-5(VI) chain also known as von Willebrand factor A domain-containing protein 4 is a protein that in humans is encoded by the COL6A5 gene.

COL6A5 is a part of the Collagen VI gene family which produce collagen components for the Extracellular matrix of most connective tissues. In the human genome, part of the collagen VI family is located on chromosome 3q in order of COL6A4, COL6A5, COL6A6. Transcription of COL6A5 only occurs in skin, lung, testis, colon, and small intestine cells.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000172752 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000091345 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Fitzgerald J, Holden P, Hansen U (2013). "The expanded collagen VI family: new chains and new questions". Connective Tissue Research. 54 (6): 345–50. doi:10.3109/03008207.2013.822865. PMC 5248970. PMID 23869615.

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