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    KRT14 keratin 14 [ Homo sapiens (human) ]

    Gene ID: 3861, updated on 28-Oct-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See KRT14 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41582279..41586895, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42437869..42442485, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome. Ralser DJ, et al. Br J Dermatol, 2020 Oct. PMID 32282935
    2. Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. Hut PH, et al. J Invest Dermatol, 2000 Apr. PMID 10733662
    3. DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. Rugg EL, et al. Prenat Diagn, 2000 May. PMID 10820403
    4. Cytokeratin-14 contributes to collective invasion of salivary adenoid cystic carcinoma. Gao XL, et al. PLoS One, 2017. PMID 28152077, Free PMC Article
    5. A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease. Batta K, et al. Br J Dermatol, 2000 Sep. PMID 10971341

    See all (237) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
      Title: Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
    2. EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
      Title: EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
    3. EZH2-H3K27me3 mediated KRT14 upregulation promotes TNBC peritoneal metastasis.
      Title: EZH2-H3K27me3 mediated KRT14 upregulation promotes TNBC peritoneal metastasis.
    4. Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.
      Title: Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.
    5. A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes.
      Title: A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes.
    6. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
      Title: Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
    7. Molecular origin of the effects of mutation on the structure and mechanical properties of human epithelial keratin K5/K14.
      Title: Molecular origin of the effects of mutation on the structure and mechanical properties of human epithelial keratin K5/K14.
    8. Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
      Title: Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
    9. Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.
      Title: Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.
    10. Structure-Function Analyses of a Keratin Heterotypic Complex Identify Specific Keratin Regions Involved in Intermediate Filament Assembly.
      Title: Structure-Function Analyses of a Keratin Heterotypic Complex Identify Specific Keratin Regions Involved in Intermediate Filament Assembly.
    Submit: New GeneRIF Correction See all GeneRIFs (92)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Dermatopathia pigmentosa reticularis
    MedGen: C0406778 OMIM: 125595 GeneReviews: Not available
    		Compare labs
    Epidermolysis bullosa simplex 1A, generalized severe
    MedGen: C0079295 OMIM: 131760 GeneReviews: Epidermolysis Bullosa Simplex
    		Compare labs
    Epidermolysis bullosa simplex 1C, localized
    MedGen: C0080333 OMIM: 131800 GeneReviews: Epidermolysis Bullosa Simplex
    		Compare labs
    Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
    MedGen: C3715082 OMIM: 601001 GeneReviews: Epidermolysis Bullosa Simplex
    		Compare labs
    Epidermolysis bullosa simplex, Koebner type
    MedGen: C5561924 OMIM: 131900 GeneReviews: Epidermolysis Bullosa Simplex
    		Compare labs
    Naegeli-Franceschetti-Jadassohn syndrome
    MedGen: C0343111 OMIM: 161000 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 response to radiation 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

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

    NCBI Reference Sequences (RefSeq)

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    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_000526.5 → NP_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:114 → 425
      Filament; Intermediate filament protein

    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_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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02533.4 GenPept UniProtKB/Swiss-Prot:P02533

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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