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    KRT14 keratin 14 [ Homo sapiens (human) ]

    Gene ID: 3861, updated on 12-Aug-2018

    Summary

    Official Symbol
    KRT14provided by HGNC
    Official Full Name
    keratin 14provided by HGNC
    Primary source
    HGNC:HGNC:6416
    See related
    Ensembl:ENSG00000186847 MIM:148066; Vega:OTTHUMG00000133426
    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
    K14; NFJ; CK14; EBS3; EBS4
    Summary
    This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward skin (RPKM 3550.7) See more
    Orthologs

    Genomic context

    See KRT14 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (41582279..41586895, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39738531..39743147, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 974 Neighboring gene keratin 9 Neighboring gene keratin 16 Neighboring gene keratin 17

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Corticotropin-releasing hormone signaling pathway, organism-specific biosystem (from WikiPathways)
      Corticotropin-releasing hormone signaling pathway, organism-specific biosystemCorticotropin-releasing hormone (CRH) is a neuropeptide secreted abundantly in the paraventricular nucleus of the hypothalamus, amygdala, cerebral cortex and cerebellum in the central nervous system ...
    • 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...
    • Glucocorticoid receptor regulatory network, organism-specific biosystem (from Pathway Interaction Database)
      Glucocorticoid receptor regulatory network, organism-specific biosystem
      Glucocorticoid receptor regulatory network
    • 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    keratin filament binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
    aging IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cornification TAS
    Traceable Author Statement
    more info
     
    epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    hair cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hemidesmosome assembly TAS
    Traceable Author Statement
    more info
     
    intermediate filament bundle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    keratinization TAS
    Traceable Author Statement
    more info
     
    response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
     
    response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basal part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    cell periphery IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    intermediate filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    keratin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus HDA PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    keratin, type I cytoskeletal 14
    Names
    cytokeratin 14
    keratin 14, type I

    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_008624.1 RefSeqGene

      Range
      5001..9617
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000526.4NP_000517.2  keratin, type I cytoskeletal 14

      See identical proteins and their annotated locations for NP_000517.2

      Status: REVIEWED

      Source sequence(s)
      BC002690, BC019097, BC042437, DB018715
      Consensus CDS
      CCDS11400.1
      UniProtKB/Swiss-Prot
      P02533
      Related
      ENSP00000167586.6, OTTHUMP00000164624, ENST00000167586.6, OTTHUMT00000257289
      Conserved Domains (2) summary
      pfam00038
      Location:114425
      Filament; Intermediate filament protein
      pfam14282
      Location:325397
      FlxA; FlxA-like protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      41582279..41586895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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