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    KRT5 keratin 5 [ Homo sapiens (human) ]

    Gene ID: 3852, updated on 9-Dec-2024

    Summary

    Official Symbol
    KRT5provided by HGNC
    Official Full Name
    keratin 5provided by HGNC
    Primary source
    HGNC:HGNC:6442
    See related
    Ensembl:ENSG00000186081 MIM:148040; AllianceGenome:HGNC:6442
    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; EBS1; EBS2; EBS2A; EBS2B; EBS2C; EBS2D; EBS2E; EBS2F; 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]
    Expression
    Biased expression in skin (RPKM 2610.9) and esophagus (RPKM 1766.7) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See KRT5 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52514575..52520394, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52479176..52484995, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52908359..52914178, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 6C Neighboring gene keratin 6A Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52916085-52917050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52941449-52941950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52941951-52942450 Neighboring gene keratin 71 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29072 Neighboring gene keratin 74

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    enables structural constituent of skin epidermis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intermediate filament polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in keratinization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to mechanical stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in intermediate filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in keratin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in keratin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in nucleus HDA PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5066..10885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000424.4NP_000415.2  keratin, type II cytoskeletal 5

      Status: REVIEWED

      Source sequence(s)
      BC071906, M21389
      Consensus CDS
      CCDS8830.1
      UniProtKB/Swiss-Prot
      P13647, Q6PI71, Q6UBJ0, Q8TA91
      UniProtKB/TrEMBL
      B4E1T1
      Related
      ENSP00000252242.4, ENST00000252242.9
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      52514575..52520394 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52479176..52484995 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)