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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 nameGene Name - the full gene name approved by the HGNC.
Keratin 17
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
KRT17
SynonymsGene synonyms aliases
39.1, CK-17, K17, PC, PC2, PCHC1
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 16189514, 17906640
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IEA
GO:0030307 Process Positive regulation of cell growth IEA
Other IDsOther 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
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
Sequence
Sequence length 432
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anonychia ANONYCHIA rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150
Carcinoma Carcinoma, Basal Cell rs121912654, rs555607708, rs786202962, rs1564055259 20871598
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Unknown
Disease name Disease term dbSNP ID References
Adenoma sebaceum Fibrous skin tumor of tuberous sclerosis
Alopecia Alopecia
Folliculitis Folliculitis
Hyperhidrosis palmaris et plantaris Hyperhidrosis Palmaris Et Plantaris

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