COL7A1

GENERAL INFORMATION

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Gene name

COL7A1

Gene description

Collagen, type VII, alpha 1

Protein class

Disease related genes
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (skin)
GTEx:Tissue enhanced (skin)

Protein evidence

Evidence at protein level

Protein localization

Expression in basal membranes of squamous epithelia.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data. Antibody staining in cells/structures not annotated, view images.

Data reliability

Supportive based on 2 antibodies.
HPA042420 , CAB016357
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (skin)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (skin)

Organ

Expression



GENE INFORMATION

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Gene name

COL7A1 (HGNC Symbol)

Synonyms

EBD1, EBDCT, EBR1

Description

Collagen, type VII, alpha 1 (HGNC Symbol)

Entrez gene summary

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]

Chromosome

3

Cytoband

p21.31

Chromosome location (bp)

48564073 - 48595267

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000114270 (version 78.38)

Entrez gene

1294

UniProt

Q02388 (UniProt - Evidence at protein level)

neXtProt

NX_Q02388

Antibodypedia

COL7A1 antibodies


PROTEIN BROWSER

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ENST00000328333
 
ENST00000422991
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL7A1-001 ENSP00000332371
ENST00000328333
Q02388
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Show » Show » 2944 295.2 Yes 0
COL7A1-003 ENSP00000391608
ENST00000422991
C9JBL3
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Show » 173 16.3 No 0