COL17A1 (collagen type XVII alpha 1 chain)

2007-02-01  

Identity

HGNC
COL17A1
LOCATION
10q25.1
LOCUSID
1308
ALIAS
BA16H23.2,BP180,BPA-2,BPAG2,ERED,LAD-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1308
MIM: 113811
HGNC: 2194
Ensembl: ENSG00000065618

Variants:

dbSNP: 1308
ClinVar: 1308
TCGA: ENSG00000065618
COSMIC: COL17A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000065618ENST00000369733Q9UMD9
ENSG00000065618ENST00000393211A2A2Y8
ENSG00000065618ENST00000433822H0Y420
ENSG00000065618ENST00000483876A0A3B3IUC2
ENSG00000065618ENST00000488320A0A3B3ISI7
ENSG00000065618ENST00000647647A0A3B3ITP5
ENSG00000065618ENST00000648076Q9UMD9
ENSG00000065618ENST00000650263A0A3B3ITM2

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500
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
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Type I hemidesmosome assemblyREACTOMER-HSA-446107
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Collagen degradationREACTOMER-HSA-1442490
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
372891412024Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.1
379799632024Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.1
372891412024Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.1
379799632024Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.1
364122772023What's new in the pathogeneses and triggering factors of bullous pemphigoid.5
378034112023Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer.0
364122772023What's new in the pathogeneses and triggering factors of bullous pemphigoid.5
378034112023Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer.0
346730512022Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa.2
354902952022Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.9
357226282022Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer.3
346730512022Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa.2
354902952022Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.9
357226282022Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer.3
333930812021Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations.0

Citation

Dessen P

COL17A1 (collagen type XVII alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46288