Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

COL7A1

contributors: mct - updated : 10-02-2010

HGNC name	collagen, type VII, alpha 1
HGNC id	2214

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EBDD epidermolysis bullosa dystrophic, generalized EBDDN epidermolysis bullosa dystrophica, neonatal form EBDPR epidermolysis bullosa dystrophic, pruriginosa EBDR epidermolysis bullosa dystrophic, severe generalized EBDRO epidermolysis bullosa dystrophic, generalized other EBSS epidermolysis bullosa simplex superficialis
Location	3p21.31      Physical location : 48.601.505 - 48.632.593
Synonym name	long chain collagen
	collagen VII, alpha-1 polypeptide
	collagen alpha-1
Synonym symbol(s)	EBD1, EBR1, EBDCT

DNA

TYPE	functioning gene
STRUCTURE	31.09 kb     118 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000094 118 - 9169 NP_000085 - 2944 - 2002 11986329

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Respiratory respiratory tract larynx     highly Skin/Tegument skin         Urinary bladder       highly Visual eye anterior segment conjunctiva       eye anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Epithelial barrier/lining

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage
cell lines	epidermoid carcinoma cell line
fluid/secretion

at STAGE

physiological period

pregnancy

Text	chorion, amnios

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal von Willebrand factor type A domain
	fibronectin type III domain
	a second von Willebrand factor type A domain
	a long collagen domain
	a Kunitz trypsin inhibitor domain

conjugated

GlycoP

mono polymer

homomer , trimer

HOMOLOGY

interspecies

ortholog to murine Col7a1 (84 pc)

Homologene

FAMILY

collagen family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix

basic FUNCTION

anchoring fibril between stratified epithelium and underlying dermis

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

text	epidermis differentiation

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EBDD , EBDDN , EBDR , EBDRO , EBSS , EBDPR

Susceptibility

to squamous cell carcinoma

Variant & Polymorphism other	retention of a specific collagen VII fragment (the N-terminal noncollagenous domain NC1) in a subset of RDEB patients may contribute to their increased susceptibility to squamous cell carcinoma

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed dermatology skin   molecular strategy for counteracting dominant-negative interference of glycine substitution mutations by shifting the balance between WT and mutant alpha-chains forming the collagen triple helix

ANIMAL & CELL MODELS