KRT14

Protein identityUniProt · HPA

UniProt accession

P02533

Gene

KRT14

Ensembl

ENSG00000186847

Chromosome

17

Canonical length

472 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Intermediate filaments

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

472 residues, UniProt reviewed canonical sequence.

>P02533|KRT14
     1  MTTCSRQFTS SSSMKGSCGI GGGIGGGSSR ISSVLAGGSC RAPSTYGGGL SVSSSRFSSG
    61  GACGLGGGYG GGFSSSSSSF GSGFGGGYGG GLGAGLGGGF GGGFAGGDGL LVGSEKVTMQ
   121  NLNDRLASYL DKVRALEEAN ADLEVKIRDW YQRQRPAEIK DYSPYFKTIE DLRNKILTAT
   181  VDNANVLLQI DNARLAADDF RTKYETELNL RMSVEADING LRRVLDELTL ARADLEMQIE
   241  SLKEELAYLK KNHEEEMNAL RGQVGGDVNV EMDAAPGVDL SRILNEMRDQ YEKMAEKNRK
   301  DAEEWFFTKT EELNREVATN SELVQSGKSE ISELRRTMQN LEIELQSQLS MKASLENSLE
   361  ETKGRYCMQL AQIQEMIGSV EEQLAQLRCE MEQQNQEYKI LLDVKTRLEQ EIATYRRLLE
   421  GEDAHLSSSQ FSSGSQSSRD VTSSSRQIRT KVMDVHDGKV VSTHEQVLRT KN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KRT14 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.56

Highest tissue expression

6,581 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KRT14.

Disease | AllUniProt

Conditions KRT14 is implicated in, by any mechanism.

• Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) MIM:131760
• Epidermolysis bullosa simplex 1C, localized (EBS1C) MIM:131800
• Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) MIM:131900
• Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive (EBS1D) MIM:601001
• Naegeli-Franceschetti-Jadassohn syndrome (NFJS) MIM:161000
• Dermatopathia pigmentosa reticularis (DPR) MIM:125595

Disease | GeneticClinVar

80 pathogenic / likely-pathogenic of 293 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Epidermolysis bullosa simplex 1A, generalized severe
• Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
• Epidermolysis bullosa simplex
• Epidermolysis bullosa simplex, Koebner type
• Epidermolysis bullosa simplex 1C, localized

ReferencesPubMed · IEDB

Publications for KRT14 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.85

gnomAD pLI

0

gnomAD missense Z

0.84

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• epidermis development
• hair cycle
• intermediate filament bundle assembly
• intermediate filament organization
• keratinocyte differentiation
• morphogenesis of an epithelium
• response to radiation
• stem cell differentiation

Molecular functions

• keratin filament binding
• structural constituent of cytoskeleton
• structural constituent of skin epidermis

Cellular components

• basal part of cell
• cornified envelope
• cytoplasm
• cytoskeleton
• cytosol
• extracellular exosome
• intermediate filament
• keratin filament
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Keratin, type I
• Intermediate filament protein, conserved site
• Intermediate filament, rod domain
• Intermediate filament protein

KeywordsUniProt

• Coiled coil
• Cytoplasm
• Disulfide bond
• Ectodermal dysplasia
• Epidermolysis bullosa
• Intermediate filament
• Keratin
• Nucleus
• Palmoplantar keratoderma
• Phosphoprotein
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of KRT14 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• EPPK1
• KLHL24
• PKP1
• TRADD
• PLEC
• KRT3
• KRT5
• KRT78
• PRPH