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KRT14 keratin 14 [ Homo sapiens (human) ]

Gene ID: 3861, updated on 17-Jun-2019

Summary

Official Symbol
KRT14provided by HGNC
Official Full Name
keratin 14provided by HGNC
Primary source
HGNC:HGNC:6416
See related
Ensembl:ENSG00000186847 MIM:148066
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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 Apr 4 07:08:55 2018

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_000526.5NP_000517.3  keratin, type I cytoskeletal 14

    Status: REVIEWED

    Source sequence(s)
    AC019349
    Consensus CDS
    CCDS11400.1
    Related
    ENSP00000167586.6, ENST00000167586.7
    Conserved Domains (1) summary
    pfam00038
    Location:114425
    Filament; Intermediate filament protein

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