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    KRT40 keratin 40 [ Homo sapiens (human) ]

    Gene ID: 125115, updated on 17-Jun-2019

    Summary

    Official Symbol
    KRT40provided by HGNC
    Official Full Name
    keratin 40provided by HGNC
    Primary source
    HGNC:HGNC:26707
    See related
    Ensembl:ENSG00000204889 MIM:616679
    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
    K40; KA36; CK-40
    Summary
    This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See KRT40 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (40977715..40987135, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39133968..39143387, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985072 Neighboring gene keratin 23 Neighboring gene keratin 39 Neighboring gene keratin associated protein 3-3 Neighboring gene keratin associated protein 3-2

    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

    Pathways from BioSystems

    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ36600

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cornification TAS
    Traceable Author Statement
    more info
     
    keratinization TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    intermediate filament IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    keratin, type I cytoskeletal 40
    Names
    cytokeratin-40
    keratin 40, type I
    type I hair keratin KA36

    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_012412.1 RefSeqGene

      Range
      5001..14420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_182497.4NP_872303.2  keratin, type I cytoskeletal 40

      See identical proteins and their annotated locations for NP_872303.2

      Status: REVIEWED

      Source sequence(s)
      AC007455
      Consensus CDS
      CCDS42320.1
      UniProtKB/Swiss-Prot
      Q6A162
      Related
      ENSP00000381500.2, ENST00000398486.2
      Conserved Domains (1) summary
      pfam00038
      Location:88399
      Filament; Intermediate filament protein

    RNA

    1. NR_163403.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC007455

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      40977715..40987135 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024189.2XP_016879678.1  keratin, type I cytoskeletal 40 isoform X2

      Related
      ENSP00000366984.4, ENST00000377755.8
    2. XM_011524339.2XP_011522641.2  keratin, type I cytoskeletal 40 isoform X1

      Related
      ENSP00000434458.1, ENST00000461923.5

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NW_003871091.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      127110..136530 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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