Human Gene COL3A1 (ENST00000304636.9) Description and Page Index
  Description: Homo sapiens collagen type III alpha 1 chain (COL3A1), mRNA. (from RefSeq NM_000090)
Gencode Transcript: ENST00000304636.9
Gencode Gene: ENSG00000168542.16
Transcript (Including UTRs)
   Position: hg38 chr2:188,974,373-189,012,746 Size: 38,374 Total Exon Count: 51 Strand: +
Coding Region
   Position: hg38 chr2:188,974,490-189,011,774 Size: 37,285 Coding Exon Count: 51 

Page IndexSequence and LinksUniProtKB CommentsProtein StructureOther NamesMethods
Data last updated at UCSC: 2021-06-20 19:51:40

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:188,974,373-189,012,746)mRNA (may differ from genome)Protein (1466 aa)
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HGNCMGIPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CO3A1_HUMAN
DESCRIPTION: RecName: Full=Collagen alpha-1(III) chain; Flags: Precursor;
FUNCTION: Collagen type III occurs in most soft connective tissues along with type I collagen.
SUBUNIT: 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 (By similarity).
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.
PTM: Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
PTM: O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
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.
DISEASE: Defects 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.
DISEASE: Defects 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.
SIMILARITY: Belongs to the fibrillar collagen family.
SIMILARITY: Contains 1 fibrillar collagen NC1 domain.
SIMILARITY: Contains 1 VWFC domain.
WEB RESOURCE: Name=COL3A1; Note=Collagen type III alpha-1 chain mutations; URL="http://www.le.ac.uk/genetics/collagen/col3a1.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL3A1";
WEB RESOURCE: Name=Wikipedia; Note=Type-III collagen entry; URL="http://en.wikipedia.org/wiki/Type-III_collagen";

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008160 - Collagen
IPR000885 - Fib_collagen_C
IPR001007 - VWF_C

Pfam Domains:
PF01410 - Fibrillar collagen C-terminal domain
PF01391 - Collagen triple helix repeat (20 copies)
PF00093 - von Willebrand factor type C domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2V53
- X-ray

3DMW
- X-ray

4AE2
- X-ray
To conserve bandwidth, only the images from the first 3 structures are shown.
4AEJ - X-ray 4AK3 - X-ray


ModBase Predicted Comparative 3D Structure on P02461
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