Tissue expression of COL6A1 - Summary - The Human Protein Atlas

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COL6A1

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TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	COL6A1
Gene description	Collagen, type VI, alpha 1
Protein class	Cancer-related genes Disease related genes Plasma proteins Predicted secreted proteins
Predicted localization	Secreted
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Mixed
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Distinct positivity in connective tissue and extracellular matrix.

DATA RELIABILITY
Data reliability description	Antibody staining consistent with RNA expression data. Antibody staining in cells/structures not annotated, view images.
Reliability score	Supported based on 2 antibodies. HPA019142 , HPA029401
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	COL6A1
Synonyms
Description	Collagen, type VI, alpha 1 (HGNC Symbol)
Entrez gene summary	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]
Chromosome	21
Cytoband	q22.3
Chromosome location (bp)	45981737 - 46005050
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000142156 (version 83.38)
Entrez gene	1291
UniProt	P12109 (UniProt - Evidence at protein level)
neXtProt	NX_P12109
Antibodypedia	COL6A1 antibodies

PROTEIN BROWSER

COL6A1-001	COL6A1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
COL6A1-001 ENSP00000355180 ENST00000361866	P12109 [Direct mapping] Collagen alpha-1(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 Cancer-related genes Candidate cancer biomarkers Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001649 [osteoblast differentiation] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005589 [collagen type VI trimer] GO:0005765 [lysosomal membrane] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0007411 [axon guidance] GO:0016020 [membrane] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0031012 [extracellular matrix] GO:0035987 [endodermal cell differentiation] GO:0042383 [sarcolemma] GO:0043234 [protein complex] GO:0048407 [platelet-derived growth factor binding] GO:0070062 [extracellular exosome] GO:0070208 [protein heterotrimerization] GO:0071230 [cellular response to amino acid stimulus] Show all	1028 aa 108.5 kDa	Yes	0
COL6A1-201 ENSP00000483630 ENST00000612273	A0A087X0S5 [Direct mapping] Collagen alpha-1(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		1026 aa 108.3 kDa	Yes	0

Contact

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.