MGP Database

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MGP006886

UniProt Annotations

Entry Information
Gene Namecollagen, type VI, alpha 5
Protein EntryCO6A5_HUMAN
UniProt IDA8TX70
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=A8TX70-1; Sequence=Displayed; Name=2; IsoId=A8TX70-2; Sequence=VSP_033912, VSP_033913; Note=No experimental confirmation available.;
DiseaseNote=Patients affected by atopic dermatitis display an abnormal distribution of COL29A1 mRNA and protein in skin suggesting that COL29A1 may be involved in the pathogenesis of the disease.
FunctionCollagen VI acts as a cell-binding protein. {ECO:0000250}.
PtmProlines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. {ECO:0000250}.
Sequence CautionSequence=BAC04092.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04092.1; Type=Frameshift; Positions=2591; Evidence={ECO:0000305}; Sequence=BAC85681.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the type VI collagen family. {ECO:0000305}.
SimilarityContains 10 VWFA domains. {ECO:0000255|PROSITE- ProRule:PRU00219}.
Subcellular LocationSecreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Deposed in the extracellular matrix of skeletal muscle. {ECO:0000250}.
SubunitTrimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI). {ECO:0000305}.
Tissue SpecificityExpressed in skin, followed by lung, small intestine, colon and testis. In skin, it is expressed in the epidermis with strongest staining in suprabasal viable layers. In ATOD patients, it is absent in the most differentiated upper spinous and granular layers (at protein level). {ECO:0000269|PubMed:17850181}.
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