Gene table of COL17A1 : collagen type XVII alpha 1 chain

Gene-disease associations table

Disease IDDisease nameSource of annotation with COL17A1OMIM linkNumber of associated genesgenes
122400EPITHELIAL RECURRENT EROSION DYSTROPHYClinVar, OMIM, HUMSAVAR link to OMIM 1COL17A1
226650EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPEClinVar, OMIM, HUMSAVAR link to OMIM 5ITGB4, COL17A1, LAMB3, LAMA3, LAMC2

Download the gene annotation in CSV format

Annotation of the gene COL17A1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Protein digestion and absorptionhsa049746.2
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Immune SystemR-HSA-1682562.37
Degradation of the extracellular matrixR-HSA-14742286.11
Cell junction organizationR-HSA-4467286.51
Cell-Cell communicationR-HSA-15009315.87
Extracellular matrix organizationR-HSA-14742444.91
Collagen formationR-HSA-14742906.56
Collagen biosynthesis and modifying enzymesR-HSA-16508146.98
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.2
Collagen degradationR-HSA-14424907.03
Adaptive Immune SystemR-HSA-12802183.19
Type I hemidesmosome assemblyR-HSA-4461079.52
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellR-HSA-1989334.7
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
protein bindingGO:00055150.46