COL3A1

COL3A1 (Collagen Type III Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL3A1 include Ehlers-Danlos Syndrome, Vascular Type and Acrogeria, Gottron Type. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include integrin binding and SMAD binding. An important paralog of this gene is COL2A1.

Collagen Type III Alpha 1 Chain

Collagen Type III Alpha 1 Chain; Ehlers-Danlos Syndrome Type IV, Autosomal Dominant; Collagen, Type III, Alpha 1; Collagen Alpha-1(III) Chain; Alpha-1 Type III Collagen; Alpha1 (III) Collagen; Collagen, Fetal; EDSVASC; EDS4A;

Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.

Cell-matrix adhesion Source: UniProtKB
Cerebral cortex development Source: UniProtKB
Collagen fibril organization Source: UniProtKB
Extracellular matrix organization Source: GO_Central
Heart development Source: UniProtKB
Integrin-mediated signaling pathway Source: UniProtKB
Negative regulation of immune response Source: UniProtKB
Negative regulation of neuron migration Source: UniProtKB
Peptide cross-linking Source: UniProtKB
Platelet activation Source: UniProtKB
Positive regulation of Rho protein signal transduction Source: UniProtKB
Regulation of immune response Source: Reactome
Response to cytokine Source: UniProtKB
Response to mechanical stimulus Source: Ensembl
Response to radiation Source: UniProtKB
Skeletal system development Source: Ensembl
Skin development Source: UniProtKB
Supramolecular fiber organization Source: UniProtKB
Transforming growth factor beta receptor signaling pathway Source: UniProtKB
Wound healing Source: UniProtKB

Extracellular matrix

Ehlers-Danlos syndrome, vascular type (EDSVASC):
A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas.
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV):
An autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur.

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.