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COL6A3 collagen, type VI, alpha 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004369 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $2448.00 $2399.00 24
NM_057164 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_057165 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_057166 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_057167 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
XM_005246065 PREDICTED: Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
XM_005246066 PREDICTED: Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
XM_006712253 PREDICTED: Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $4749.00 40

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Gene Symbol COL6A3
Entrez Gene ID 1293
Full Name collagen, type VI, alpha 3
Synonyms
General protein information
Preferred Names
collagen alpha-3(VI) chain
Names
collagen alpha-3(VI) chain
collagen VI, alpha-3 polypeptide
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q37

Summary This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009].
Disorder

MIM: 120250

Bethlem myopathy, 158810 (3); Ullrich congenital muscular dystrophy,

mRNA Protein Product Sequence Price Select
NM_004369, 190343014 NP_004360, 55743098 collagen alpha-3(VI) chain isoform 1 precursor ORF Sequence $2199.00
NM_057164, 240255541 NP_476505, 240255542 collagen alpha-3(VI) chain isoform 2 precursor ORF Sequence $1500.00
NM_057165, 240255539 NP_476506, 240255540 collagen alpha-3(VI) chain isoform 3 precursor ORF Sequence $1500.00
NM_057166, 240255534 NP_476507, 240255535 collagen alpha-3(VI) chain isoform 4 precursor ORF Sequence $3500.00
NM_057167, 190343017 NP_476508, 55743106 collagen alpha-3(VI) chain isoform 5 precursor ORF Sequence $4500.00
XM_005246065, 530371358 XP_005246122, 530371359 collagen alpha-3(VI) chain isoform X1 ORF Sequence $4500.00
XM_005246066, 530371360 XP_005246123, 530371361 collagen alpha-3(VI) chain isoform X2 ORF Sequence $4500.00
XM_006712253, 578803630 XP_006712316, 578803631 collagen alpha-3(VI) chain isoform X3 ORF Sequence $4500.00
KEGG
hsa04510Focal adhesion
hsa04512ECM-receptor interaction
hsa04974Protein digestion and absorption
hsa04151PI3K-Akt signaling pathway
Reactome
REACT_18266Axon guidance
REACT_18334NCAM signaling for neurite out-growth
REACT_18312NCAM1 interactions
REACT_16888Signaling by PDGF
REACT_111102Signal Transduction
REACT_111045Developmental Biology
REACT_118779Extracellular matrix organization
REACT_120729Collagen formation
REACT_121139Collagen biosynthesis and modifying enzymes
REACT_150180Assembly of collagen fibrils and other multimeric structures
Homo sapiens (human)COL6A3NP_004360.2
Pan troglodytes (chimpanzee)COL6A3XP_001153544.1
Macaca mulatta (Rhesus monkey)COL6A3XP_001084624.1
Canis lupus familiaris (dog)COL6A3NP_001096685.1
Bos taurus (cattle)COL6A3XP_005205035.1
Mus musculus (house mouse)Col6a3NP_001229937.1
Rattus norvegicus (Norway rat)Col6a3XP_003750780.1
Gallus gallus (chicken)COL6A3NP_990865.1
Danio rerio (zebrafish)col6a3XP_002663415.3
Xenopus (Silurana) tropicalis (western clawed frog)col6a3XP_002932067.2
Process
IDNameEvidence
GO:0007155cell adhesionIEA
GO:0007411axon guidanceTAS
GO:0007517muscle organ developmentTAS
GO:0010951negative regulation of endopeptidase activityIEA
GO:0022617extracellular matrix disassemblyTAS
GO:0030198extracellular matrix organizationTAS
GO:0030574collagen catabolic processTAS
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005578proteinaceous extracellular matrixIEA
GO:0005589collagen type VI trimerTAS
GO:0005615extracellular spaceIDA
GO:0005788endoplasmic reticulum lumenTAS
GO:0031012extracellular matrixIDA
GO:0031012extracellular matrixIDA
GO:0031012extracellular matrixISS
GO:0042383sarcolemmaIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004867serine-type endopeptidase inhibitor activityIEA
GeneCards COL6A3
UniProt Q63HQ4, D9ZGF2, B7ZW00, E9PCV6, Q8N4Z1, P12111
Vega OTTHUMG00000150020
MIM 120250
Ensembl ENSG00000163359
HGNC 2213
HPRD 00371

Related articles in PubMed

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

What is the normal function of the COL6A3 gene?

The COL6A3 gene provides instructions for making one component of type VI collagen, which is a flexible protein that surrounds muscle cells. Specifically, the protein produced from the COL6A3 gene is the alpha(α)3(VI) chain of type VI collagen. This chain combines with two other types of α(VI) chains (the α1 and α2 chains) to make a molecule called a collagen VI monomer. Two collagen VI monomers attach (bind) together to form collagen VI dimers. Two dimers group together to form a larger molecule called a tetramer, which is the complete type VI collagen molecule.

Type VI collagen molecules form complex networks that make up a large portion of the extracellular matrix surrounding muscle cells. The extracellular matrix is an intricate lattice that forms in the space between cells and provides structural support. The extracellular matrix that surrounds muscle cells is necessary for muscle cell stability and growth. Type VI collagen networks play an especially important role in the extracellular matrix of muscle that is used for movement (skeletal muscle).

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