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    KRT14 keratin 14 [ Homo sapiens (human) ]

    Gene ID: 3861, updated on 23-Nov-2023

    Summary

    Official Symbol
    KRT14provided by HGNC
    Official Full Name
    keratin 14provided by HGNC
    Primary source
    HGNC:HGNC:6416
    See related
    Ensembl:ENSG00000186847 MIM:148066; AllianceGenome:HGNC:6416
    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; EBS1; EBS3; EBS4; EBS1A; EBS1B; EBS1C; EBS1D
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KRT14 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41582279..41586895, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42437869..42442485, complement)
    105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39705412-39706025 Neighboring gene long intergenic non-protein coding RNA 974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39708567-39709067 Neighboring gene keratin 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39731713-39732212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39735843-39736829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39739983-39740483 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39741549-39742050 Neighboring gene uncharacterized LOC124904003 Neighboring gene keratin 16

    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 keratin filament binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in epithelial cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in hair cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intermediate filament bundle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in basal part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cornified envelope IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    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 nucleus HDA PubMed 
    located_in 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)

    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_008624.2 RefSeqGene

      Range
      5000..9616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000526.5NP_000517.3  keratin, type I cytoskeletal 14

      Status: REVIEWED

      Source sequence(s)
      AC019349
      Consensus CDS
      CCDS11400.1
      UniProtKB/Swiss-Prot
      P02533, Q14715, Q53XY3, Q9BUE3, Q9UBN2, Q9UBN3, Q9UCY4
      Related
      ENSP00000167586.6, ENST00000167586.7
      Conserved Domains (1) summary
      pfam00038
      Location:114425
      Filament; Intermediate filament protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      42437869..42442485 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)