Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    KRT5 keratin 5 [ Homo sapiens (human) ]

    Gene ID: 3852, updated on 22-Aug-2016
    Official Symbol
    KRT5provided by HGNC
    Official Full Name
    keratin 5provided by HGNC
    Primary source
    HGNC:HGNC:6442
    See related
    Ensembl:ENSG00000186081 HPRD:01010; MIM:148040; Vega:OTTHUMG00000169657
    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
    K5; CK5; DDD; DDD1; EBS2; KRT5A
    Summary
    The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    12q13.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (52514575..52520459, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52908359..52914328, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984511 Neighboring gene keratin 6C Neighboring gene keratin 6A Neighboring gene keratin 71 Neighboring gene keratin 74

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    scaffold 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
    cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    hemidesmosome assembly TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intermediate filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    keratin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    keratin, type II cytoskeletal 5
    Names
    58 kda cytokeratin
    CK-5
    cytokeratin-5
    epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types
    keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)
    keratin 5, type II
    type-II keratin Kb5

    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_008297.1 RefSeqGene

      Range
      5001..10885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000424.3NP_000415.2  keratin, type II cytoskeletal 5

      See identical proteins and their annotated locations for NP_000415.2

      Status: REVIEWED

      Source sequence(s)
      BC071906, M21389
      Consensus CDS
      CCDS8830.1
      UniProtKB/Swiss-Prot
      P13647
      Related
      ENSP00000252242, OTTHUMP00000241816, ENST00000252242, OTTHUMT00000405312
      Conserved Domains (3) summary
      pfam00038
      Location:167480
      Filament; Intermediate filament protein
      pfam16208
      Location:16164
      Keratin_2_head; Keratin type II head
      cl01888
      Location:393453
      DUF883; Bacterial protein of unknown function (DUF883)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      52514575..52520459 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      52875216..52881100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)