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MGP Database

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MGP000624

UniProt Annotations

Entry Information

Gene Name	collagen, type V, alpha 2
Protein Entry	CO5A2_HUMAN
UniProt ID	P05997
Species	Human

Comments

Comment type	Description
Disease	Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. {ECO:0000269\|PubMed:9425231}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Ehlers-Danlos syndrome 2 (EDS2) [MIM:130010]: Mild form of classic Ehlers-Danlos syndrome. {ECO:0000269\|PubMed:9783710}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity). {ECO:0000250}.
Function	Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue- specific matrices (By similarity). {ECO:0000250}.
Ptm	Prolines at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Probably 3-hydroxylated on Pro-919 and Pro-1156 by LEPREL1. {ECO:0000269\|PubMed:21757687, ECO:0000269\|PubMed:8181482}.
Sequence Caution	Sequence=AAH43613.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAY24185.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAD92282.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Similarity	Belongs to the fibrillar collagen family. {ECO:0000255\|PROSITE-ProRule:PRU00793}.
Similarity	Contains 1 fibrillar collagen NC1 domain. {ECO:0000255\|PROSITE-ProRule:PRU00793}.
Similarity	Contains 1 VWFC domain. {ECO:0000255\|PROSITE- ProRule:PRU00220}.
Subcellular Location	Secreted, extracellular space, extracellular matrix {ECO:0000255\|PROSITE-ProRule:PRU00793}.
Subunit	Trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one alpha 2(V), and one alpha 3(V) chains in placenta.