P02461
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant), isoform CRA_b
NCBI Official Synonym Full Names
collagen, type III, alpha 1
NCBI Protein Information
collagen alpha-1(III) chain; collagen alpha-1(III) chain; collagen, fetal; OTTHUMP00000163485; alpha1 (III) collagen; Ehlers-Danlos syndrome type IV, autosomal dominant
UniProt Protein Name
Collagen alpha-1(III) chain
UniProt Entry Name
CO3A1_HUMAN
NCBI Summary for COL3A1
This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish]
UniProt Comments for COL3A1
Function: Collagen type III occurs in most soft connective tissues along with type I collagen.
Subunit structure: Trimers of identical alpha 1(III) chains. The chains are linked to each other by interchain disulfide bonds. Trimers are also cross-linked via hydroxylysines.
Subcellular location: Secreted › extracellular space › extracellular matrix
Post-translational modification: Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
Involvement in disease: Defects in COL3A1 are a cause of Ehlers-Danlos syndrome type 3 (EDS3) [
MIM:130020]; also known as benign hypermobility syndrome. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS3 is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity. Ref.44Defects in COL3A1 are the cause of Ehlers-Danlos syndrome type 4 (EDS4) [
MIM:130050]. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS4 is the most severe form of the disease. It is characterized by the joint and dermal manifestations as in other forms of the syndrome, characteristic facial features (acrogeria) in most patients, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.37 Ref.38 Ref.39 Ref.40 Ref.41 Ref.43 Ref.45 Ref.46 Ref.47 Ref.48 Ref.49 Ref.50 Ref.51 Ref.52 Ref.53 Ref.55 Ref.56 Ref.57 Ref.58 Ref.60Defects in COL3A1 are a cause of susceptibility to aortic aneurysm abdominal (AAA) [
MIM:100070]. AAA is a common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. Ref.27 Ref.29 Ref.36
Sequence similarities: Belongs to the fibrillar collagen family.Contains 1 fibrillar collagen NC1 domain.Contains 1 VWFC domain.
Product References and Citations for COL3A1 native protein
• Miller, E.J., and R.K. Rhodes, (1982), Meth. Enzymol. 82:33-64 • Miller, E.J., In: Extracellular Matrix Biochemistry, K.A. Piez and A.H. Reddi, eds. Elsevier, New York, 1984. Pp. 41-81.
Research Articles on COL3A1
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Products associated with COL3A1 native protein
Pathways associated with COL3A1 native protein
Diseases associated with COL3A1 native protein
Organs/Tissues associated with COL3A1 native protein
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