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COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000091 Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. ORF Sequence $2255.85
Peptide Services
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Gene Symbol COL4A3
Entrez Gene ID 1285
Full Name collagen, type IV, alpha 3 (Goodpasture antigen)
Synonyms
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q36-q37

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].
Disorder

MIM: 120070

Alport syndrome, autosomal recessive, 203780 (3); Hematuria,

mRNA Protein Product Sequence Price Select
NM_000091, 297632355 NP_000082, 89142730 collagen alpha-3(IV) chain precursor Full Length $0.00
ORF Sequence $2255.85
KEGG
hsa04974Protein digestion and absorption
hsa04512ECM-receptor interaction
hsa04510Focal adhesion
hsa05222Small cell lung cancer
hsa05146Amoebiasis
hsa04151PI3K-Akt signaling pathway
hsa05200Pathways in cancer
Pathway Interaction Database
avb3_integrin_pathwayIntegrins in angiogenesis
Reactome
REACT_18266Axon guidance
REACT_111045Developmental Biology
REACT_18312NCAM1 interactions
REACT_121139Collagen biosynthesis and modifying enzymes
REACT_16888Signaling by PDGF
REACT_111102Signal Transduction
REACT_118779Extracellular matrix organization
REACT_18334NCAM signaling for neurite out-growth
REACT_120729Collagen formation
REACT_13552Integrin cell surface interactions
Homo sapiens (human)COL4A3NP_000082.2
Pan troglodytes (chimpanzee)COL4A3XP_516130.2
Macaca mulatta (Rhesus monkey)COL4A3XP_001101448.2
Canis lupus familiaris (dog)COL4A3XP_534590.2
Bos taurus (cattle)COL4A3NP_001160001.1
Mus musculus (house mouse)Col4a3NP_031760.2
Rattus norvegicus (Norway rat)Col4a3NP_001129231.1
Gallus gallus (chicken)COL4A3XP_001234730.2
GeneCards COL4A3
UniProt Q01955
MIM 120070
Ensembl ENSG00000169031
HGNC 2204
HPRD 00354

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
collagen alpha-3(IV) chain
Names
collagen alpha-3(IV) chain
tumstatin
collagen IV, alpha-3 polypeptide

Interactant

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