collagen 6 alpha-5; collagen 29 alpha-1; von Willebrand factor A domain-containing protein 4 (COL29A1, COL6A5, VWA4)

Function: - collagen 6 acts as a cell-binding protein Structure: - belongs to the type 6 collagen family - contains 10 VWFA domains Compartment: - secreted, extracellular space, extracellular matrix (putative) - deposed in the extracellular matrix of skeletal muscle (putative) Alternative splicing: named isoforms=2 Expression: - expressed in skin, followed by lung, small intestine, colon & testis - in skin, expressed in the epidermis with strongest staining in suprabasal viable layers - in ATOD patients, it is absent in the most differentiated upper spinous & granular layers (at protein level) Pathology: - genetic variation of COL29A1 may be associated with susceptibility to atopic dermatitis

General

collagen subunit glycoprotein secreted protein

Properties

SIZE: entity length = 2615 aa MW = 290 kD MOTIF: signal sequence {1-18} Nonhelical region {19-1394} MOTIF: VWFA domain {30-209} N-glycosylation site {N201} VWFA domain {236-413} N-glycosylation site {N260} VWFA domain {442-612} VWFA domain {628-797} VWFA domain {814-987} N-glycosylation site {N835} VWFA 6 {1005-1178} VWFA 7 {1194-1376} Triple-helical region {1395-1728} MOTIF: Cell attachment site {1430-1432} Nonhelical region {1729-2615} MOTIF: VWFA 8 {1758-1965} VWFA 9 {1963-2154} VWFA 10 {2291-2487} N-glycosylation site {N2509}

Database Correlations

OMIM 611916 UniProt A8TX70 PFAM correlations Entrez Gene 256076 Kegg hsa:256076

References

UniProt :accession A8TX70