COL7A1 (collagen type VII alpha 1 chain)

2007-02-01  

Identity

HGNC
COL7A1
LOCATION
3p21.31
LOCUSID
1294
ALIAS
EBD1,EBDCT,EBR1,NDNC8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1294
MIM: 120120
HGNC: 2214
Ensembl: ENSG00000114270

Variants:

dbSNP: 1294
ClinVar: 1294
TCGA: ENSG00000114270
COSMIC: COL7A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114270ENST00000328333Q02388
ENSG00000114270ENST00000422991C9JBL3

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Anchoring fibril formationREACTOMER-HSA-2214320
Cargo concentration in the ERREACTOMER-HSA-5694530
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
157747582005Type VII collagen is required for Ras-driven human epidermal tumorigenesis.33
185589932008Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.33
153659902004Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.31
169714782007Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.31
265683112015TANGO1 recruits ERGIC membranes to the endoplasmic reticulum for procollagen export.31
119863292002Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen.30
199456212010Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.29
194357992009Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen.27
243173942014Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa.22
249271632014Cancer stem cell differentiation: TGFβ1 and versican may trigger molecules for the organization of tumor spheroids.22

Citation

Dessen P

COL7A1 (collagen type VII alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43769/col7a1