COL3A1 blocking peptide

COL3A1 Antibody (C-term) Blocking Peptide

• Gene Names: COL3A1; EDS4A
• Synonyms: COL3A1; COL3A1 Antibody (C-term) Blocking Peptide; Collagen alpha-1(III) chain; COL3A1 blocking peptide

• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 1466

• Cellular Location: Secreted, extracellular space, extracellular matrix
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for COL3A1 blocking peptide

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 GPR56 in the developing brain and binding to GPR56 inhibits neuronal migration and activates the RhoA pathway by coupling GPR56 to GNA13 and possibly GNA12.

NCBI and Uniprot Product Information

• NCBI GI #: 124056490
• NCBI GeneID: 1281
• UniProt Accession #: P02461; P78429; Q15112; Q16403; Q53S91; Q541P8; Q6LDB3; Q6LDJ2; Q6LDJ3; Q7KZ56; D2JYH5; D3DPH4
• Molecular Weight: 111,907 Da
• NCBI Official Full Name: Collagen alpha-1(III) chain
• NCBI Official Synonym Full Names: collagen type III alpha 1 chain
• NCBI Official Symbol: COL3A1
• NCBI Official Synonym Symbols: EDS4A
• NCBI Protein Information: collagen alpha-1(III) chain
• UniProt Protein Name: Collagen alpha-1(III) chain
• Protein Family: Collagen
• UniProt Gene Name: COL3A1
• UniProt Entry Name: CO3A1_HUMAN

NCBI Description

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, Feb 2008]

Uniprot Description

CO3A1: Collagen type III occurs in most soft connective tissues along with type I collagen. Defects in COL3A1 are a cause of Ehlers-Danlos syndrome type 3 (EDS3); 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. Defects in COL3A1 are the cause of Ehlers-Danlos syndrome type 4 (EDS4). 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. Defects in COL3A1 are a cause of susceptibility to aortic aneurysm abdominal (AAA). 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. Belongs to the fibrillar collagen family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; Extracellular matrix; Cell adhesion; Motility/polarity/chemotaxis; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 2q31

Cellular Component: collagen type III; endoplasmic reticulum lumen; extracellular matrix; extracellular region; extracellular space

Molecular Function: extracellular matrix structural constituent; integrin binding; platelet-derived growth factor binding; protein binding

Biological Process: cell-matrix adhesion; cerebral cortex development; collagen catabolic process; collagen fibril organization; extracellular matrix organization and biogenesis; fibril organization and biogenesis; heart development; integrin-mediated signaling pathway; negative regulation of immune response; peptide cross-linking; positive regulation of Rho protein signal transduction; regulation of immune response; response to cytokine stimulus; response to radiation; skin development; transforming growth factor beta receptor signaling pathway; wound healing

Disease: Ehlers-danlos Syndrome, Type Iii; Ehlers-danlos Syndrome, Type Iv, Autosomal Dominant