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Tbio
COL7A1
Collagen alpha-1(VII) chain

Protein Classes
Protein Summary
Description
Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000328333
  • ENSP00000332371
  • ENSG00000114270

Symbol
  • EBD1
  • EBR1
  • EBDCT
  • NDNC8
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
0.85
gene perturbation
0.75
disease perturbation
0.74
biological term
0.73
phenotype
0.68


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 449.53   (req: < 5)
Gene RIFs: 106   (req: <= 3)
Antibodies: 169   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 449.53   (req: >= 5)
Gene RIFs: 106   (req: > 3)
Antibodies: 169   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 9
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
macrophage inflammatory protein 1b measurement
1
1
1
68.1
age at first sexual intercourse measurement
1
1
1
33.6
apolipoprotein A 1 measurement
1
1
1
9.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
macrophage inflammatory protein 1b measurement
1
68.1
age at first sexual intercourse measurement
1
33.6
apolipoprotein A 1 measurement
1
9.3
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Macaque
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Mouse
MGI:88462
12836
Rat
RGD:1311417
301012
Dog
collagen type VII alpha 1 chain
VGNC:39483
403467
Species
Name
OMA
EggNOG
Inparanoid
Chimp
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Macaque
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Mouse
Rat
Dog
collagen type VII alpha 1 chain
Pathways (20)
Anchoring fibril formation (R-HSA-2214320)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 15
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Anchoring fibril formation
Reactome
Asparagine N-linked glycosylation
Reactome
Assembly of collagen fibrils and other multimeric structures
Reactome
COPII-mediated vesicle transport
Reactome
Cargo concentration in the ER
Name
Explore in Pharos
Explore in Source
Anchoring fibril formation
Asparagine N-linked glycosylation
Assembly of collagen fibrils and other multimeric structures
COPII-mediated vesicle transport
Cargo concentration in the ER
Protein-Protein Interactions (180)
1 – 10 of 180
LAMC2
Tbio
Novelty: 0.00695692
Score: 0.979
Data Source: STRINGDB
MIA3
Tbio
Novelty: 0.02784348
Score: 0.976
Data Source: STRINGDB
LAMB3
Tbio
Novelty: 0.00717673
Score: 0.975
Data Source: STRINGDB
LAMA3
Tbio
Novelty: 0.00733792
Score: 0.961
Data Source: STRINGDB
BMP1
Tchem
Novelty: 0.00299518
Score: 0.96
Data Source: STRINGDB
SEC24A
Tbio
Novelty: 0.07724534
Score: 0.95
Data Source: STRINGDB
SEC23A
Tbio
Novelty: 0.0384262
Score: 0.947
Data Source: STRINGDB
SEC24B
Tbio
Novelty: 0.01031644
Score: 0.946
Data Source: STRINGDB
COL4A1
Tbio
Novelty: 0.00358049
Score: 0.944
Data Source: STRINGDB
COL1A1
Tbio
Novelty: 0.00063584
Score: 0.943
Data Source: STRINGDB
Publication Statistics
PubMed Score  449.53

PubMed score by year
PubTator Score  360.03

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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