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Aliases for KRT14 Gene

Aliases for KRT14 Gene

  • Keratin 14 2 3
  • Keratin 14, Type I 2 3 5
  • Cytokeratin-14 3 4
  • Keratin-14 3 4
  • K14 3 4
  • Keratin 14 (Epidermolysis Bullosa Simplex, Dowling-Meara, Koebner) 2
  • Epidermolysis Bullosa Simplex 2
  • Cytokeratin 14 3
  • Dowling-Meara 2
  • Koebner 2
  • CK-14 4
  • CK14 3
  • EBS3 3
  • EBS4 3
  • NFJ 3

External Ids for KRT14 Gene

Previous HGNC Symbols for KRT14 Gene

  • EBS3
  • EBS4

Previous GeneCards Identifiers for KRT14 Gene

  • GC17M038859
  • GC17P041732
  • GC17M039543
  • GC17M040111
  • GC17M036993
  • GC17M039738
  • GC17M035501

Summaries for KRT14 Gene

Entrez Gene Summary for KRT14 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]

GeneCards Summary for KRT14 Gene

KRT14 (Keratin 14) is a Protein Coding gene. Diseases associated with KRT14 include Epidermolysis Bullosa Simplex, Koebner Type and Naegeli-Franceschetti-Jadassohn Syndrome. Among its related pathways are Corticotropin-releasing hormone and Glucocorticoid receptor regulatory network. GO annotations related to this gene include structural molecule activity and keratin filament binding. An important paralog of this gene is KRT12.

UniProtKB/Swiss-Prot for KRT14 Gene

  • The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.

Gene Wiki entry for KRT14 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT14 Gene

Genomics for KRT14 Gene

Regulatory Elements for KRT14 Gene

Enhancers for KRT14 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KRT14 on UCSC Golden Path with GeneCards custom track

Promoters for KRT14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KRT14 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT14 Gene

Chromosome:
17
Start:
41,582,279 bp from pter
End:
41,586,921 bp from pter
Size:
4,643 bases
Orientation:
Minus strand

Genomic View for KRT14 Gene

Genes around KRT14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT14 Gene

Proteins for KRT14 Gene

  • Protein details for KRT14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02533-K1C14_HUMAN
    Recommended name:
    Keratin, type I cytoskeletal 14
    Protein Accession:
    P02533
    Secondary Accessions:
    • Q14715
    • Q53XY3
    • Q9BUE3
    • Q9UBN2
    • Q9UBN3
    • Q9UCY4

    Protein attributes for KRT14 Gene

    Size:
    472 amino acids
    Molecular mass:
    51561 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins. disulfide-linked keratin-14 associates with keratin-5. Interacts with TRADD and with keratin filaments. Associates with other type I keratins.
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

    Three dimensional structures from OCA and Proteopedia for KRT14 Gene

neXtProt entry for KRT14 Gene

Proteomics data for KRT14 Gene at MOPED

Post-translational modifications for KRT14 Gene

  • A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament cage around the nucleus.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT14 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for KRT14 (Cytokeratin 14)

No data available for DME Specific Peptides for KRT14 Gene

Domains & Families for KRT14 Gene

Gene Families for KRT14 Gene

Suggested Antigen Peptide Sequences for KRT14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02533

UniProtKB/Swiss-Prot:

K1C14_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT14: view

Function for KRT14 Gene

Molecular function for KRT14 Gene

GENATLAS Biochemistry:
keratin 14,type I,basal layer,dimerizing with KRT5
UniProtKB/Swiss-Prot Function:
The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.
genes like me logo Genes that share phenotypes with KRT14: view

Human Phenotype Ontology for KRT14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRT14 Gene

MGI Knock Outs for KRT14:

Animal Model Products

miRNA for KRT14 Gene

miRTarBase miRNAs that target KRT14

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for KRT14 Gene

Localization for KRT14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KRT14 Gene

Cytoplasm. Nucleus. Note=Expressed in both as a filamentous pattern.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT14 Gene COMPARTMENTS Subcellular localization image for KRT14 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KRT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11724817
GO:0045095 keratin filament IEA,IDA 7679677
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with KRT14: view

Pathways & Interactions for KRT14 Gene

genes like me logo Genes that share pathways with KRT14: view

Pathways by source for KRT14 Gene

1 GeneGo (Thomson Reuters) pathway for KRT14 Gene

Gene Ontology (GO) - Biological Process for KRT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007568 aging IDA 21916889
GO:0030855 epithelial cell differentiation IEA --
GO:0031581 hemidesmosome assembly TAS --
genes like me logo Genes that share ontologies with KRT14: view

No data available for SIGNOR curated interactions for KRT14 Gene

Drugs & Compounds for KRT14 Gene

(29) Drugs for KRT14 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for KRT14 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT14: view

Transcripts for KRT14 Gene

mRNA/cDNA for KRT14 Gene

Unigene Clusters for KRT14 Gene

Keratin 14:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRT14 Gene

No ASD Table

Relevant External Links for KRT14 Gene

GeneLoc Exon Structure for
KRT14
ECgene alternative splicing isoforms for
KRT14

Expression for KRT14 Gene

mRNA expression in normal human tissues for KRT14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT14 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x21.1), Skin - Sun Exposed (Lower leg) (x17.4), and Esophagus - Mucosa (x5.5).

Protein differential expression in normal tissues from HIPED for KRT14 Gene

This gene is overexpressed in Cerebrospinal fluid (13.9), Saliva (11.3), Pancreatic juice (7.3), and Hair follicle (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT14 Gene



SOURCE GeneReport for Unigene cluster for KRT14 Gene Hs.654380

mRNA Expression by UniProt/SwissProt for KRT14 Gene

P02533-K1C14_HUMAN
Tissue specificity: Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. Found in keratinocytes surrounding the club hair during telogen.
genes like me logo Genes that share expression patterns with KRT14: view

Protein tissue co-expression partners for KRT14 Gene

- Elite partner

Primer Products

Orthologs for KRT14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT14 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KRT14 35
  • 91.71 (n)
  • 95.58 (a)
KRT14 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT14 35
  • 93.11 (n)
  • 96.93 (a)
KRT14 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt14 35
  • 92.05 (n)
  • 95.07 (a)
Krt14 16
Krt14 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KRT14 35
  • 96.26 (n)
  • 96.4 (a)
KRT14 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krt14 35
  • 84.38 (n)
  • 86.77 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 36
  • 69 (a)
ManyToMany
KRT14 36
  • 70 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 67 (a)
ManyToMany
-- 36
  • 67 (a)
ManyToMany
Species with no ortholog for KRT14:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRT14 Gene

ENSEMBL:
Gene Tree for KRT14 (if available)
TreeFam:
Gene Tree for KRT14 (if available)

Paralogs for KRT14 Gene

Pseudogenes.org Pseudogenes for KRT14 Gene

genes like me logo Genes that share paralogs with KRT14: view

Variants for KRT14 Gene

Sequence variations from dbSNP and Humsavar for KRT14 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs60399023 Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) 41,586,462(-) ATGAC(C/G/T)GCCTG reference, missense
rs58330629 Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) 41,586,461(-) TGACC(A/C/G/T)CCTGG reference, missense
rs57121345 Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) 41,586,404(-) CCTGG(A/C)AGTGA reference, missense
rs58560979 Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) 41,583,879(-) TCAAT(A/G)TGGAG reference, missense
rs61371557 Epidermolysis bullosa simplex, Koebner type (K-EBS) 41,583,872(-) GGAGA(C/G/T)GGACG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KRT14 Gene

Variant ID Type Subtype PubMed ID
dgv961e1 CNV Complex 17122850
dgv962e1 CNV Complex 17122850
nsv827992 CNV Gain 20364138
esv34903 CNV Gain 17911159
nsv2053 CNV Insertion 18451855
nsv514846 CNV Complex 21397061
nsv9556 CNV Gain 18304495
nsv9557 CNV Loss 18304495
nsv827993 CNV Loss 20364138
esv22954 CNV Loss 19812545
nsv471400 CNV Duplication 19718026

Variation tolerance for KRT14 Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.48; 88.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT14 Gene

Human Gene Mutation Database (HGMD)
KRT14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT14 Gene

Disorders for KRT14 Gene

MalaCards: The human disease database

(67) MalaCards diseases for KRT14 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa simplex, koebner type
  • epidermolysis bullosa simplex, generalized
naegeli-franceschetti-jadassohn syndrome
  • naegeli syndrome
dermatopathia pigmentosa reticularis
  • dpr
epidermolysis bullosa simplex, recessive 1
  • epidermolysis bullosa simplex, autosomal recessive 1
epidermolysis bullosa simplex, dowling-meara type
  • dowling-meara type epidermolysis bullosa simplex
- elite association - COSMIC cancer census association via MalaCards
Search KRT14 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K1C14_HUMAN
  • Dermatopathia pigmentosa reticularis (DPR) [MIM:125595]: A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. {ECO:0000269 PubMed:16960809}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]: An intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. {ECO:0000269 PubMed:7526933}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. {ECO:0000269 PubMed:10583131, ECO:0000269 PubMed:10730767, ECO:0000269 PubMed:10733662, ECO:0000269 PubMed:10820403, ECO:0000269 PubMed:11710919, ECO:0000269 PubMed:12603865, ECO:0000269 PubMed:12655565, ECO:0000269 PubMed:12707098, ECO:0000269 PubMed:14987259, ECO:0000269 PubMed:16786515, ECO:0000269 PubMed:16882168, ECO:0000269 PubMed:1717157, ECO:0000269 PubMed:7561171, ECO:0000269 PubMed:7688405, ECO:0000269 PubMed:8601736, ECO:0000269 PubMed:9804355, ECO:0000269 PubMed:9989794, ECO:0000269 Ref.30}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe. {ECO:0000269 PubMed:10733662, ECO:0000269 PubMed:10820403, ECO:0000269 PubMed:11710919, ECO:0000269 PubMed:16786515, ECO:0000269 PubMed:1720261, ECO:0000269 PubMed:7526926, ECO:0000269 PubMed:7682883, ECO:0000269 PubMed:9989794, ECO:0000269 Ref.10, ECO:0000269 Ref.30}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. {ECO:0000269 PubMed:10733662, ECO:0000269 PubMed:12603865, ECO:0000269 PubMed:12655565, ECO:0000269 PubMed:12707098, ECO:0000269 PubMed:14987259, ECO:0000269 PubMed:16786515, ECO:0000269 PubMed:16882168, ECO:0000269 PubMed:7506097, ECO:0000269 PubMed:7506606, ECO:0000269 PubMed:7561171, ECO:0000269 PubMed:9284105, ECO:0000269 PubMed:9804357, ECO:0000269 PubMed:9989794}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]: A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. {ECO:0000269 PubMed:16960809}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KRT14

Genetic Association Database (GAD)
KRT14
Human Genome Epidemiology (HuGE) Navigator
KRT14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRT14
genes like me logo Genes that share disorders with KRT14: view

No data available for Genatlas for KRT14 Gene

Publications for KRT14 Gene

  1. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. (PMID: 1717157) Coulombe P.A. … Fuchs E. (Cell 1991) 2 3 4 67
  2. Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure. (PMID: 20030639) JerA!bkovA! B. … FajkusovA! L. (Br. J. Dermatol. 2010) 3 23
  3. Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex. (PMID: 20060687) Kang T.W. … Kim S.C. (J. Dermatol. Sci. 2010) 3 23
  4. Autoantibodies in scurfy mice and IPEX patients recognize keratin 14. (PMID: 20147963) Huter E.N. … Shevach E.M. (J. Invest. Dermatol. 2010) 3 23
  5. KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. (PMID: 18049449) Lugassy J. … Sprecher E. (J. Invest. Dermatol. 2008) 3 23

Products for KRT14 Gene

Sources for KRT14 Gene

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