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KRT14 keratin 14 [ Homo sapiens (human) ]

Gene ID: 3861, updated on 7-Apr-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
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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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes. Gouveia M, et al. PLoS One, 2021. PMID 34962936, Free PMC Article
  2. Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome. Ralser DJ, et al. Br J Dermatol, 2020 Oct. PMID 32282935
  3. Clinical outcomes of muscle invasive bladder Cancer according to the BASQ classification. Yuk HD, et al. BMC Cancer, 2019 Sep 9. PMID 31500577, Free PMC Article
  4. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant. Burger B, et al. Br J Dermatol, 2019 Oct. PMID 30968399
  5. Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review. Diociaiuti A, et al. J Eur Acad Dermatol Venereol, 2018 Apr. PMID 29024068

See all (217) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
    Title: EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
  2. EZH2-H3K27me3 mediated KRT14 upregulation promotes TNBC peritoneal metastasis.
    Title: EZH2-H3K27me3 mediated KRT14 upregulation promotes TNBC peritoneal metastasis.
  3. 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.
  4. 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.
  5. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
    Title: Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant.
    Title: Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant.
Submit: New GeneRIF Correction See all GeneRIFs (91)

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
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Epidermolysis bullosa simplex 1A, generalized severe
MedGen: C0079295 OMIM: 131760 GeneReviews: Epidermolysis Bullosa Simplex
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Epidermolysis bullosa simplex 1C, localized
MedGen: C0080333 OMIM: 131800 GeneReviews: Epidermolysis Bullosa Simplex
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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 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_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)
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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