Fields »
ABOUT
HELP
BLOG
COL7A1

GENERAL INFORMATION

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (skin)
GTEx:Tissue enhanced (skin)
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Expression in basal membranes of squamous epithelia.

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.
HPA042420 , CAB016357
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skin)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (skin)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

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 83.38)

Entrez gene

 1294

UniProt

 Q02388 (UniProt - Evidence at protein level)

neXtProt

 NX_Q02388

Antibodypedia

 COL7A1 antibodies

PROTEIN BROWSER
COL7A1-001
COL7A1-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
COL7A1-001
ENSP00000332371
ENST00000328333
Q02388 [Direct mapping]
Collagen alpha-1(VII) chain
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0004867 [serine-type endopeptidase inhibitor activity]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005590 [collagen type VII trimer]
GO:0005604 [basement membrane]
GO:0005615 [extracellular space]
GO:0005788 [endoplasmic reticulum lumen]
GO:0006888 [ER to Golgi vesicle-mediated transport]
GO:0007155 [cell adhesion]
GO:0008544 [epidermis development]
GO:0010951 [negative regulation of endopeptidase activity]
GO:0018279 [protein N-linked glycosylation via asparagine]
GO:0022617 [extracellular matrix disassembly]
GO:0030134 [ER to Golgi transport vesicle]
GO:0030198 [extracellular matrix organization]
GO:0030574 [collagen catabolic process]
GO:0031012 [extracellular matrix]
GO:0033116 [endoplasmic reticulum-Golgi intermediate compartment membrane]
GO:0035987 [endodermal cell differentiation]
GO:0042802 [identical protein binding]
GO:0043687 [post-translational protein modification]
GO:0044267 [cellular protein metabolic process]
GO:0048208 [COPII vesicle coating]
GO:0061024 [membrane organization]
Show all
 2944 aa
295.2 kDa 		Yes 0
COL7A1-003
ENSP00000391608
ENST00000422991
C9JBL3 [Direct mapping]
Collagen alpha-1(VII) chain
Show all
   Phobius predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 173 aa
16.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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