KRT17 (keratin 17)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3872
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 17
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT17
Synonyms (NCBI Gene) Gene synonyms aliases
39.1, CK-17, K17, PC, PC2, PCHC1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multip
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
SNP ID Visualize variation Clinical significance Consequence
rs28928896 T>C,G Pathogenic, not-provided Missense variant, coding sequence variant
rs28928897 C>G,T Pathogenic, not-provided Missense variant, coding sequence variant
rs28928898 A>G,T Pathogenic, not-provided Missense variant, coding sequence variant
rs28928899 A>G,T Pathogenic, not-provided Missense variant, coding sequence variant
rs28933088 A>C Pathogenic, not-provided Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
miRTarBase ID miRNA Experiments Reference
MIRT755834 hsa-miR-485-5p Luciferase reporter assay, Western blotting, qRT-PCR 35706019
MIRT755834 hsa-miR-485-5p Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), in vitro cullelar assays, Flow cytometry 38434984
MIRT1101158 hsa-miR-1909 CLIP-seq
MIRT1101159 hsa-miR-2110 CLIP-seq
MIRT1101160 hsa-miR-3199 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
BRCA1 Unknown 19882246
STAT1 Activation 21796151
STAT3 Activation 21796151
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IEA
GO:0002009 Process Morphogenesis of an epithelium IBA
GO:0002009 Process Morphogenesis of an epithelium IEA
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 16189514, 17906640, 25416956
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
148069 6427 ENSG00000128422
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q04695
Protein name Keratin, type I cytoskeletal 17 (39.1) (Cytokeratin-17) (CK-17) (Keratin-17) (K17)
Protein function Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair (By similarity). Required for the correct growth of hair follicles, in particular for the persistence
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 83 → 394 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in the outer root sheath and medulla region of hair follicle specifically from eyebrow and beard, digital pulp, nail matrix and nail bed epithelium, mucosal stratified squamous epithelia and in basal cells of oral epithelium,
Sequence
Sequence length 432
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Estrogen signaling pathway
Staphylococcus aureus infection 		  Keratinization
Formation of the cornified envelope
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Anonychia anonychia rs370554150 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Pachyonychia Congenita pachyonychia congenita, pachyonychia congenita 2 N/A N/A GenCC
Show/Hide Text Mining Associations (110)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acanthosis Nigricans Associate 29784039
Achalasia Addisonianism Alacrimia syndrome Associate 22431556
Adenocarcinoma Stimulate 22588153
Adenocarcinoma Associate 39413460
Adenocarcinoma of Lung Stimulate 29991674
Adenocarcinoma of Lung Associate 38240936
Anal Gland Neoplasms Associate 10195031
Arthritis Psoriatic Associate 29784039, 29859926
Breast Neoplasms Associate 16941011, 18275599, 19855377, 20426817, 25012653, 35639459, 38140561
Breast Neoplasms Inhibit 36139022