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collagen type VII alpha 1 chain

Summary

Gene Symbol

COL7A1

Organism

Homo sapiens (human)

External Links

NCBI Gene

1294

PubChem

1294

Alliance of Genome Resources

HGNC:2214

JoGo

COL7A1

TogoVar

COL7A1

Annotation

Keyword

Alternative splicing
Basement membrane
Cell adhesion
Collagen
Direct protein sequencing
Disease variant
Disulfide bond
Epidermolysis bullosa
Extracellular matrix
Glycoprotein
Hydroxylation
Proteomics identification
Reference proteome
Repeat
Serine protease inhibitor
Signal

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q59F16
Q02388	Long-chain collagen

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
cell adhesion	IEA
epidermis development	TAS	8170945
negative regulation of peptidase activity
extracellular matrix organization	IBA
endodermal cell differentiation	IEP	23154389

GO Hierarchy

biological process

cellular process [inference]

cell adhesion

cellular developmental process [inference]

cell differentiation [inference]

endodermal cell differentiation

cellular component organization or biogenesis [inference]

cellular component organization [inference]

extracellular structure organization [inference]

extracellular matrix organization

external encapsulating structure organization [inference]

extracellular matrix organization

developmental process [inference]

anatomical structure development [inference]

tissue development [inference]

epidermis development

cellular developmental process [inference]

cell differentiation [inference]

endodermal cell differentiation

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

negative regulation of metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of nitrogen compound metabolic process [inference]

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of peptidase activity [inference]

negative regulation of peptidase activity

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of peptidase activity [inference]

negative regulation of peptidase activity

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of primary metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of peptidase activity [inference]

negative regulation of peptidase activity

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of molecular function [inference]

negative regulation of molecular function [inference]

negative regulation of catalytic activity [inference]

negative regulation of hydrolase activity [inference]

negative regulation of peptidase activity

regulation of catalytic activity [inference]

negative regulation of catalytic activity [inference]

negative regulation of hydrolase activity [inference]

negative regulation of peptidase activity

regulation of hydrolase activity [inference]

negative regulation of hydrolase activity [inference]

negative regulation of peptidase activity

regulation of peptidase activity [inference]

negative regulation of peptidase activity

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
extracellular region	TAS
collagen type VII trimer	TAS	9375848
basement membrane	IBA
extracellular space	IBA
extracellular space	HDA	22664934

GO Hierarchy

cellular component

protein-containing complex [inference]

collagen trimer [inference]

anchoring collagen complex [inference]

collagen type VII trimer

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

bounding membrane of organelle [inference]

endoplasmic reticulum-Golgi intermediate compartment membrane

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix

basement membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

endoplasmic reticulum lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

coated vesicle [inference]

COPII-coated ER to Golgi transport vesicle

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

coated vesicle [inference]

COPII-coated ER to Golgi transport vesicle

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

coated vesicle [inference]

COPII-coated ER to Golgi transport vesicle

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
serine-type endopeptidase inhibitor activity	IEA
protein binding	IPI	19269366
extracellular matrix structural constituent conferring tensile strength	RCA	25037231 28675934
extracellular matrix structural constituent conferring tensile strength	ISS
extracellular matrix structural constituent conferring tensile strength	IBA

GO Hierarchy

molecular function

structural molecule activity [inference]

extracellular matrix structural constituent [inference]

extracellular matrix structural constituent conferring tensile strength

binding [inference]

protein binding

molecular function regulator activity [inference]

enzyme regulator activity [inference]

enzyme inhibitor activity [inference]

peptidase inhibitor activity [inference]

endopeptidase inhibitor activity [inference]

serine-type endopeptidase inhibitor activity

peptidase regulator activity [inference]

peptidase inhibitor activity [inference]

endopeptidase inhibitor activity [inference]

serine-type endopeptidase inhibitor activity

endopeptidase regulator activity [inference]

endopeptidase inhibitor activity [inference]

serine-type endopeptidase inhibitor activity

molecular function inhibitor activity [inference]

enzyme inhibitor activity [inference]

peptidase inhibitor activity [inference]

endopeptidase inhibitor activity [inference]

serine-type endopeptidase inhibitor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

collagen alpha-1(VII) chain

Functional Category

G: Carbohydrate transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
extracellular matrix organization
extracellular matrix structural constituent conferring tensile strength
serine-type endopeptidase inhibitor activity

Displaying **all 9** entries
InterPro
Collagen triple helix repeat
Fibronectin type III superfamily
Fibronectin type III
Immunoglobulin-like fold
Pancreatic trypsin inhibitor Kunitz domain superfamily
Pancreatic trypsin inhibitor Kunitz domain
Proteinase inhibitor I2, Kunitz, conserved site
von Willebrand factor A-like domain superfamily
von Willebrand factor, type A

Disease

Disease Ontology

Displaying **all 6** entries
DO ID	Disease Name	Source
DOID:0080086	nonsyndromic congenital nail disorder 8	Alliance of Genome Resources
DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa	Alliance of Genome Resources
DOID:0080988	pretibial dystrophic epidermolysis bullosa	Alliance of Genome Resources
DOID:0111345	transient bullous dermolysis of the newborn	Alliance of Genome Resources
DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails	Alliance of Genome Resources
DOID:4959	epidermolysis bullosa dystrophica	Alliance of Genome Resources