KRT17 (keratin 17)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3872
Gene name Keratin 17
Gene symbol KRT17
Synonyms (NCBI Gene)
39.1CK-17K17PCPC2PCHC1
Chromosome 17
Chromosome location 17q21.2
Summary 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.
12
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.
25
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT755834 hsa-miR-485-5p Luciferase reporter assayWestern blottingqRT-PCR 35706019
MIRT755834 hsa-miR-485-5p Luciferase reporter assayWestern blottingqRT-PCRImmunoprecipitaion (IP)in vitro cullelar assaysFlow cytometry 38434984
MIRT1101158 hsa-miR-1909 CLIP-seq
MIRT1101159 hsa-miR-2110 CLIP-seq
MIRT1101160 hsa-miR-3199 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
BRCA1 Unknown 19882246
STAT1 Activation 21796151
STAT3 Activation 21796151
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
148069 6427 ENSG00000128422
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the skin Pathogenic rs59151893 RCV001836709
Nonsyndromic congenital nail disorder 4 Pathogenic rs370554150 RCV000626685
Pachyonychia congenita 2 Likely pathogenic; Pathogenic rs121912478, rs28928896, rs59151893, rs28933088, rs28928897, rs58730926, rs28928898, rs57674130, rs28928899, rs28933089, rs59977263 RCV000015701
RCV000015688
RCV000015689
RCV000015690
RCV000114414
RCV000114415
RCV000015696
RCV000015697
RCV000015698
RCV000015699
RCV000015700
RCV000015702
RCV000015703
Steatocystoma multiplex Likely pathogenic; Pathogenic rs121912478, rs59151893, rs28928896, rs28928897, rs58730926 RCV002494801
RCV002496373
RCV000015691
RCV000015692
RCV000015694
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs190234778 RCV005906742
Cervical cancer Benign; Likely benign rs190234778 RCV005906744
Clear cell carcinoma of kidney Benign; Likely benign rs190234778 RCV005906745
Familial cancer of breast Benign; Likely benign rs190234778 RCV005906741
Show/Hide Text Mining Associations (110)
Associations from Text MiningDisease 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