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COL6A1

collagen, type VI, alpha 1

The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.


  Gene Expression Pattern     Gene Network    dbSNP    OMIM  


TRANSCRIPTS LIST

5'/3'UTRs Partially Coding Exons Coding Exons Introns


Promoter 3'UTR

NM_001848; ENST00000361866.3

Gene: NM:NM_001848; ENST00000361866.3 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 EXON 7 EXON 7 EXON 8 EXON 8 EXON 9 EXON 9 EXON 10 EXON 10 EXON 11 EXON 11 EXON 12 EXON 12 EXON 13 EXON 13 EXON 14 EXON 14 EXON 15 EXON 15 EXON 16 EXON 16 EXON 17 EXON 17 EXON 18 EXON 18 EXON 19 EXON 19 EXON 20 EXON 20 EXON 21 EXON 21 EXON 22 EXON 22 EXON 23 EXON 23 EXON 24 EXON 24 EXON 25 EXON 25 EXON 26 EXON 26 EXON 27 EXON 27 EXON 28 EXON 28 EXON 29 EXON 29 EXON 30 EXON 30 EXON 31 EXON 31 EXON 32 EXON 32 EXON 33 EXON 33 EXON 34 EXON 34 EXON 35 EXON 35 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5 INTRON 6 INTRON 7 INTRON 8 INTRON 9 INTRON 10 INTRON 11 INTRON 12 INTRON 13 INTRON 14 INTRON 15 INTRON 16 INTRON 17 INTRON 18 INTRON 19 INTRON 20 INTRON 21 INTRON 22 INTRON 23 INTRON 24 INTRON 25 INTRON 26 INTRON 27 INTRON 28 INTRON 29 INTRON 30 INTRON 31 INTRON 32 INTRON 33 INTRON 34
Promoter 3'UTR

ENST00000538397.1

Gene: NM:ENST00000538397.1 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 EXON 7 EXON 7 EXON 8 EXON 8 EXON 9 EXON 9 EXON 10 EXON 10 EXON 11 EXON 11 EXON 12 EXON 12 EXON 13 EXON 13 EXON 14 EXON 14 EXON 15 EXON 15 EXON 16 EXON 16 EXON 17 EXON 17 EXON 18 EXON 18 EXON 19 EXON 19 EXON 20 EXON 20 EXON 21 EXON 21 EXON 22 EXON 22 EXON 23 EXON 23 EXON 24 EXON 24 EXON 25 EXON 25 EXON 26 EXON 26 EXON 27 EXON 27 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5 INTRON 6 INTRON 7 INTRON 8 INTRON 9 INTRON 10 INTRON 11 INTRON 12 INTRON 13 INTRON 14 INTRON 15 INTRON 16 INTRON 17 INTRON 18 INTRON 19 INTRON 20 INTRON 21 INTRON 22 INTRON 23 INTRON 24 INTRON 25 INTRON 26
Promoter 3'UTR

ENST00000546256.1

Gene: NM:ENST00000546256.1 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 EXON 7 EXON 7 EXON 8 EXON 8 EXON 9 EXON 9 EXON 10 EXON 10 EXON 11 EXON 11 EXON 12 EXON 12 EXON 13 EXON 13 EXON 14 EXON 14 EXON 15 EXON 15 EXON 16 EXON 16 EXON 17 EXON 17 EXON 18 EXON 18 EXON 19 EXON 19 EXON 20 EXON 20 EXON 21 EXON 21 EXON 22 EXON 22 EXON 23 EXON 23 EXON 24 EXON 24 EXON 25 EXON 25 EXON 26 EXON 26 EXON 27 EXON 27 EXON 28 EXON 28 EXON 29 EXON 29 EXON 30 EXON 30 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5 INTRON 6 INTRON 7 INTRON 8 INTRON 9 INTRON 10 INTRON 11 INTRON 12 INTRON 13 INTRON 14 INTRON 15 INTRON 16 INTRON 17 INTRON 18 INTRON 19 INTRON 20 INTRON 21 INTRON 22 INTRON 23 INTRON 24 INTRON 25 INTRON 26 INTRON 27 INTRON 28 INTRON 29
Promoter 3'UTR

ENST00000492851.1

Gene: NM:ENST00000492851.1 EXON 1 EXON 1 EXON 2 EXON 2 INTRON 1
Promoter 3'UTR

ENST00000466285.1

Gene: NM:ENST00000466285.1 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 INTRON 1 INTRON 2
Promoter 3'UTR

ENST00000463060.1

Gene: NM:ENST00000463060.1 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5
Promoter 3'UTR

ENST00000498614.1

Gene: NM:ENST00000498614.1 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5
Promoter 3'UTR

ENST00000486023.1

Gene: NM:ENST00000486023.1 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 INTRON 1 INTRON 2





Updated on June 12, 2013