Expression of COL6A3 in cancer - Summary - The Human Protein Atlas

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COL6A3

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TISSUE

CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

GENERAL INFORMATION
Gene name	COL6A3
Gene description	Collagen, type VI, alpha 3
Protein class	Disease related genes Plasma proteins Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	9
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Group enriched (ASC TERT1, BJ, BJ hTERT+, U-87 MG)
HPA (normal tissue):	Tissue enhanced (smooth muscle)

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Cytoplasmic expression in a few tissues with positivity in extracellular matrix.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data. Antibody staining in cells/structures not annotated, view images.
Reliability score	Supported based on 1 antibody. HPA010080
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (unfavourable).
Renal cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

HPA010080

GENE INFORMATION
Gene name	COL6A3
Synonyms
Description	Collagen, type VI, alpha 3 (HGNC Symbol)
Entrez gene 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]
Chromosome	2
Cytoband	q37.3
Chromosome location (bp)	237324003 - 237414375
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000163359 (version 83.38)
Entrez gene	1293
UniProt	P12111 (UniProt - Evidence at protein level)
neXtProt	NX_P12111
Antibodypedia	COL6A3 antibodies

PROTEIN BROWSER

COL6A3-001	COL6A3-002	COL6A3-003	COL6A3-004	COL6A3-008	COL6A3-011	COL6A3-012	COL6A3-201	COL6A3-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
COL6A3-001 ENSP00000295550 ENST00000295550	P12111 [Direct mapping] Collagen alpha-3(VI) chain D9ZGF2 [Target identity:100%; Query identity:100%] Collagen, type VI, alpha 3 Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004867 [serine-type endopeptidase inhibitor activity] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] GO:0005589 [collagen type VI trimer] GO:0005615 [extracellular space] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0007411 [axon guidance] GO:0007517 [muscle organ development] GO:0010951 [negative regulation of endopeptidase activity] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0031012 [extracellular matrix] GO:0042383 [sarcolemma] GO:0070062 [extracellular exosome] GO:1903561 [extracellular vesicle] Show all	3177 aa 343.7 kDa	Yes	0
COL6A3-002 ENSP00000375861 ENST00000392004	P12111 [Direct mapping] Collagen alpha-3(VI) chain Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004867 [serine-type endopeptidase inhibitor activity] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005589 [collagen type VI trimer] GO:0005615 [extracellular space] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0007411 [axon guidance] GO:0007517 [muscle organ development] GO:0010951 [negative regulation of endopeptidase activity] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0031012 [extracellular matrix] GO:0070062 [extracellular exosome] GO:1903561 [extracellular vesicle] Show all	1237 aa 134.7 kDa	Yes	0
COL6A3-003 ENSP00000375860 ENST00000392003	P12111 [Direct mapping] Collagen alpha-3(VI) chain Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004867 [serine-type endopeptidase inhibitor activity] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005589 [collagen type VI trimer] GO:0005615 [extracellular space] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0007411 [axon guidance] GO:0007517 [muscle organ development] GO:0010951 [negative regulation of endopeptidase activity] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0031012 [extracellular matrix] GO:0070062 [extracellular exosome] GO:1903561 [extracellular vesicle] Show all	1036 aa 113.2 kDa	Yes	0
COL6A3-004 ENSP00000460277 ENST00000491233	I3L392 [Direct mapping] Collagen alpha-3(VI) chain Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		173 aa 18.6 kDa	No	0
COL6A3-008 ENSP00000389539 ENST00000433762	C9JNG9 [Direct mapping] Collagen alpha-3(VI) chain Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		708 aa 77.2 kDa	Yes	0
COL6A3-011 ENSP00000386844 ENST00000409809	P12111 [Direct mapping] Collagen alpha-3(VI) chain Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0004867 [serine-type endopeptidase inhibitor activity] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005589 [collagen type VI trimer] GO:0005615 [extracellular space] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0007411 [axon guidance] GO:0007517 [muscle organ development] GO:0010951 [negative regulation of endopeptidase activity] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0031012 [extracellular matrix] GO:0070062 [extracellular exosome] GO:1903561 [extracellular vesicle] Show all	2971 aa 321.4 kDa	Yes	0
COL6A3-012 ENSP00000418285 ENST00000472056	P12111 [Direct mapping] Collagen alpha-3(VI) chain Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004867 [serine-type endopeptidase inhibitor activity] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005589 [collagen type VI trimer] GO:0005615 [extracellular space] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0007411 [axon guidance] GO:0007517 [muscle organ development] GO:0010951 [negative regulation of endopeptidase activity] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0031012 [extracellular matrix] GO:0070062 [extracellular exosome] GO:1903561 [extracellular vesicle] Show all	2570 aa 278.2 kDa	Yes	0
COL6A3-201 ENSP00000315609 ENST00000347401	E7ENL6 [Direct mapping] Collagen alpha-3(VI) chain Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004867 [serine-type endopeptidase inhibitor activity] GO:0005515 [protein binding] GO:0010951 [negative regulation of endopeptidase activity] Show all	2569 aa 278.1 kDa	Yes	0
COL6A3-202 ENSP00000315873 ENST00000353578	P12111 [Direct mapping] Collagen alpha-3(VI) chain Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004867 [serine-type endopeptidase inhibitor activity] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005589 [collagen type VI trimer] GO:0005615 [extracellular space] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0007411 [axon guidance] GO:0007517 [muscle organ development] GO:0010951 [negative regulation of endopeptidase activity] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0031012 [extracellular matrix] GO:0070062 [extracellular exosome] GO:1903561 [extracellular vesicle] Show all	2971 aa 321.4 kDa	Yes	0

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The Human Protein Atlas

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