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    KRT17 keratin 17 [ Homo sapiens ]

    Gene ID: 3872, updated on 11-May-2012
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    Summary

    Official Symbol
    KRT17provided by HGNC
    Official Full Name
    keratin 17provided by HGNC
    Primary source
    HGNC:6427
    See related
    Ensembl:ENSG00000128422; HPRD:01019; MIM:148069; Vega:OTTHUMG00000133505
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PC; K17; PC2; PCHC1
    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 multiplex. [provided by RefSeq, Aug 2008]
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    Genomic context

    Location :
    17q21.2
    Sequence :
    Chromosome: 17; NC_000017.10 (39775692..39780882, complement)
    See KRT17 in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene keratin 14 Neighboring gene keratin 16 Neighboring gene keratin 42 pseudogene Neighboring gene eukaryotic translation initiation factor 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Identification of novel interaction between annexin A2 and keratin 17: evidence for reciprocal regulation. Chung BM, et al. J Biol Chem, 2012 Mar 2. PMID 22235123.
    2. Integrative analysis of the ubiquitin proteome isolated using Tandem Ubiquitin Binding Entities (TUBEs). Lopitz-Otsoa F, et al. J Proteomics, 2012 Jun 6. PMID 22178446.
    3. Type I keratin 17 protein is phosphorylated on serine 44 by p90 ribosomal protein S6 kinase 1 (RSK1) in a growth- and stress-dependent fashion. Pan X, et al. J Biol Chem, 2011 Dec 9. PMID 22006917.
    4. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.

    See all (59) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. a novel interaction involving K17 and AnxA2 and identify AnxA2 as a potential regulator of keratin filaments.
      Title: Identification of novel interaction between annexin A2 and keratin 17: evidence for reciprocal regulation.
    2. Type I keratin 17 protein is phosphorylated on serine 44 by p90 ribosomal protein S6 kinase 1 (RSK1) in a growth- and stress-dependent fashion
      Title: Type I keratin 17 protein is phosphorylated on serine 44 by p90 ribosomal protein S6 kinase 1 (RSK1) in a growth- and stress-dependent fashion.
    3. The data suggested that IL-17A can upregulate keratin-17 expression in keratinocytes in a dose-dependent manner through STAT1- and STAT3-dependent mechanisms.
      Title: IL-17A upregulates keratin 17 expression in keratinocytes through STAT1- and STAT3-dependent mechanisms.
    4. AIRE expression in HaCaT epidermal keratinocytes, as well as its interaction with K17, was confirmed.
      Title: The autoimmune regulator (AIRE), which is defective in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients, is expressed in human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17.
    5. KRT17 is upregulated in gastric adenocarcinoma and is associated with tumor progression.
      Title: Identification of potential biomarkers for early and advanced gastric adenocarcinoma detection.
    6. mutation of KRT17 may play a major role in the pathogenesis of this pedigree with pachyonychia congenita type 2.
      Title: [Keratin 17 mutation in pachyonychia congenita type 2 in a Chinese Han family].
    7. Overexpression of KRT17 is associated with basal-like phenotype in breast cancer.
      Title: BRCA1 transcriptionally regulates genes associated with the basal-like phenotype in breast cancer.
    8. higher expression in the fetal skin than in adult skin
      Title: Comparison between human fetal and adult skin.
    9. Positive expression of CK5/6 or CK17 in patients with triple-negative breast cancer is correlated with poor prognosis, high grade differentiation and axillary lymph node metastasis.
      Title: [Expression of CK5/6 and CK17 and its correlation with prognosis of triple-negative breast cancer patients].
    10. An N92S (p.Asn92Ser) germline keratin 17 gene mutation in a pachyonychia congenita type 2 female patient is presented.
      Title: Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.
    Submit: New GeneRIF Correction See all (22)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Pachyonychia congenita, Jackson-Lawler type

    Steatocystoma multiplex

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q04695 Q15834 CCDC85B    HPRD  PubMed  
    Q04695 P00533 EGFR    HPRD  PubMed  
    Q04695 P02538 KRT6A    HPRD  PubMed  
    Q04695 P08729 KRT7    HPRD  PubMed  
    BioGRID:110070 BioGRID:106821 APC    BioGRID  PubMed Two-hybrid 
    BioGRID:110070 BioGRID:116198 CCDC85B    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:110070 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110070 BioGRID:110051 KRT6A    BioGRID  PubMed Two-hybrid 
    BioGRID:110070 BioGRID:126715 KRT72    BioGRID  PubMed Two-hybrid 
    BioGRID:110070 BioGRID:110054 KRT8    BioGRID  PubMed Two-hybrid 
    BioGRID:110070 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110070 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110070 BioGRID:113192 UCHL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110070 BioGRID:113241 USP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110070 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    epidermis development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    intermediate filament IEA
    Inferred from Electronic Annotation
    more info
    		  
    intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    keratin, type I cytoskeletal 17
    Names
    keratin, type I cytoskeletal 17
    39.1
    CK-17
    keratin-17
    cytokeratin-17
    keratin 17 epitope S1
    keratin 17 epitope S2
    keratin 17 epitope S4
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008625.1 RefSeqGene

      Range
      5001..10191
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000422.2 → NP_000413.1  keratin, type I cytoskeletal 17

      Status: REVIEWED

      Source sequence(s)
      BC011901, BP226061, X05803
      Consensus CDS
      CCDS11402.1
      UniProtKB/Swiss-Prot
      Q04695
      UniProtKB/TrEMBL
      Q14666
      Related
      ENSP00000308452, OTTHUMP00000164770, ENST00000311208, OTTHUMT00000257460
      Conserved Domains (1) summary
      pfam00038
      Location:84 – 394
      Blast Score: 1021
      Filament; Intermediate filament protein

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p5 Primary Assembly

      Range
      39775692..39780882, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      35538739..35543929, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC130686.15 (88802..93917) None
    genomic CH471152.1 EAW60750.1
      EAW60751.1
      EAW60752.1
      EAW60753.1
    genomic S78515.1 AAB34565.1
    genomic Z19574.1 CAA79626.1
    mRNA AK095342.1 BAC04534.1
    mRNA AK304373.1 BAG65211.1
    mRNA BC000159.2 AAH00159.2
    mRNA BC011901.2 AAH11901.1
    mRNA BC056421.1 AAH56421.1
    mRNA BC072018.1 AAH72018.1
    mRNA BC072019.1 AAH72019.1
    mRNA BP226061.1 None
    mRNA BX647923.1 None
    mRNA EF608068.1 ABQ96595.1
    mRNA EF608069.1 ABQ96596.1
    mRNA EF608071.1 ABQ96598.1
    mRNA X05803.1 CAA29248.1
    mRNA X62571.1 CAA44451.1
    other-genetic DQ891101.2 ABM82027.1
    other-genetic DQ894283.2 ABM85209.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q04695.2 GenPept UniProtKB/Swiss-Prot:Q04695
    Q14666 GenPept UniProtKB/TrEMBL:Q14666
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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