Human COL4A3 Recombinant Protein (RPPB3224)
- SKU:
- RPPB3224
Description
| Product Name: | Human COL4A3 Recombinant Protein |
| Product Code: | RPPB3224 |
| Size: | 100µg |
| Species: | Human |
| Target: | COL4A3 |
| Synonyms: | Collagen alpha-3(IV) chain, Goodpasture antigen, COL4A3, Glomerular Basal Membrane, GBM. |
| Source: | Sf9 Insect cells |
| Physical Appearance: | Sterile Filtered clear solution. |
| Formulation: | COL4A3 Human biotin contains 20mM HEPES, pH 7.5, 0.02% SDS and 0.01mM EDTA. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks.Store, frozen at -20°C for longer periods of time.Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 95% as determined by Capillary Electrophoresis. |
Type IV collagen is a major structural component of basement membranes. It is a multimeric protein composed of 3 alpha subunits, which are encoded by 6 different genes, alpha 1 through alpha 6. Each of these alpha subunits can form a triple helix structure with 2 other subunits to form type IV collagen. The Goodpasture syndrome is a condition in which autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are restricted basically to the non-collagenous C-terminal domain of the protein. There are numerous alternative transcripts that appear to be unique to the human COL4A3 and alternative splicing is limited to the six exons that encode this C-terminal domain. COL4A3 is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to the Alport syndrome are also situated within the exons that encode this C-terminal region. COL4A3 is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Several exons of COL4A3 are interspersed with exons of an uncharacterized gene which is on the opposite strand.
Human ?3 chain of collagen IV; identical with the antigen called "glomerular basal membrane antigen" (GBM). Calculated Molecular weight: 48kDa. Calculated isoelectric point: pH 8.9. cDNA coding for a minicollagen version of the human collagen IV ?3 chain fused to a 6-histidine purification tag. The term minicollagen designates the removal of most of the epitope-less triplehelical collagenous region (situated between the N-terminal 7S domain and the C-terminal noncollagenous NC1 domain), which is a requirement for recombinant production of this antigen.
| UniProt Protein Function: | COL4A3: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. Autoantibodies against the NC1 domain of alpha 3(IV) are found in Goodpasture syndrome, an autoimmune disease of lung and kidney. Defects in COL4A3 are a cause of Alport syndrome autosomal recessive (APSAR). APSAR is characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. Defects in COL4A3 are a cause of benign familial hematuria (BFH); also known as thin basement membrane nephropathy. BFH is characterized by persistent hematuria, an electron microscopically detectable thin glomerular basement membrane (GBM) and an autosomal dominant mode of inheritance. Renal function remains normal. In children, differentiation between BFH and AS can be difficult, because both disorders are manifested by persistent hematuria and thin GBM at that age. Defects in COL4A3 are a cause of Alport syndrome autosomal dominant (APSAD). Alport syndrome is characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. Belongs to the type IV collagen family. 5 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Secreted; Secreted, signal peptide Chromosomal Location of Human Ortholog: 2q36-q37 Cellular Component: basement membrane; collagen type IV; endoplasmic reticulum; endoplasmic reticulum lumen; extracellular region; intracellular membrane-bound organelle Molecular Function:integrin binding; protein binding Biological Process: blood circulation; caspase activation; cell proliferation; collagen catabolic process; extracellular matrix organization and biogenesis; glomerular basement membrane development; negative regulation of angiogenesis; negative regulation of cell proliferation; sensory perception of sound Disease: Alport Syndrome, Autosomal Dominant; Alport Syndrome, Autosomal Recessive; Hematuria, Benign Familial |
| NCBI Summary: | Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010] |
| UniProt Code: | Q01955 |
| NCBI GenInfo Identifier: | 134035067 |
| NCBI Gene ID: | 1285 |
| NCBI Accession: | Q01955.3 |
| UniProt Secondary Accession: | Q01955,Q53QQ1, Q53R14, Q53RW8, Q9BQT2, Q9NYC4, Q9UDJ9 Q9UDK9, Q9UDL0, Q9UDL1, |
| UniProt Related Accession: | Q01955 |
| Molecular Weight: | 135,079 Da |
| NCBI Full Name: | Collagen alpha-3(IV) chain |
| NCBI Synonym Full Names: | collagen type IV alpha 3 chain |
| NCBI Official Symbol: | COL4A3�� |
| NCBI Protein Information: | collagen alpha-3(IV) chain |
| UniProt Protein Name: | Collagen alpha-3(IV) chain |
| UniProt Synonym Protein Names: | Goodpasture antigen |
| Protein Family: | Collagen |
| UniProt Gene Name: | COL4A3�� |
| UniProt Entry Name: | CO4A3_HUMAN |
Additional Information
Product Type: |
Recombinant Protein |
Species: |
Human |
Uniprot: |
Q01955 |
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