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Aliases for KRT14 Gene

Aliases for KRT14 Gene

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

External Ids for KRT14 Gene

Previous Symbols for KRT14 Gene

  • EBS3
  • EBS4

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, Type I) is a Protein Coding gene. Diseases associated with KRT14 include epidermolysis bullosa simplex, dowling-meara type and dermatopathia pigmentosa reticularis. Among its related pathways are Glucocorticoid receptor regulatory network and Corticotropin-releasing hormone. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is KRT34.

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

Genomic Location for KRT14 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT14 Gene

Domains for KRT14 Gene

Gene Families for KRT14 Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

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
Family:
  • Belongs to the intermediate filament family.:
    • P02533
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.

Gene Ontology (GO) - Molecular Function for KRT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity --
GO:0005200 structural constituent of cytoskeleton TAS 7525408
GO:0005515 protein binding IPI 10852826
GO:1990254 keratin filament binding IPI 20346438
genes like me logo Genes that share ontologies with KRT14: view
genes like me logo Genes that share phenotypes with KRT14: view

Animal Models for KRT14 Gene

MGI Knock Outs for KRT14:

miRNA for KRT14 Gene

miRTarBase miRNAs that target KRT14

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 5
cytosol 4
extracellular 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KRT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IDA 11724817
GO:0005737 cytoplasm IDA 11724817
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IDA 10852826
genes like me logo Genes that share ontologies with KRT14: view

Pathways 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:0008544 epidermis development TAS 7525408
GO:0010043 response to zinc ion IEA --
GO:0010212 response to ionizing radiation IEA --
GO:0030855 epithelial cell differentiation IEA --
genes like me logo Genes that share ontologies with KRT14: view

Compounds for KRT14 Gene

(39) Novoseek inferred chemical compound relationships for KRT14 Gene

Compound -log(P) Hits PubMed IDs
mucicarmine 47.4 2
progesterone 41.7 20
hpvs 39.4 1
calcipotriol 37.7 1
estrogen 37.2 15
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) (21.1), Skin - Sun Exposed (Lower leg) (17.4), and Esophagus - Mucosa (5.5).

Integrated Proteomics: protein expression 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 expressions with KRT14: view

Orthologs for KRT14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT14 35
  • 96.26 (n)
  • 96.4 (a)
KRT14 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Krt14 35
  • 84.38 (n)
  • 86.77 (a)
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 MAF
rs762483 -- 41,582,830(+) TACAG(C/G)GGTCT intron-variant
rs897428 -- 41,583,159(+) AAAGG(A/G)CAGGA intron-variant
rs936100 -- 41,583,020(+) GCCCC(A/T)AGCCA intron-variant
rs1809200 -- 41,585,852(+) CGGCA(A/G)CCACA intron-variant
rs2001185 untested 41,582,545(+) AGAGG(C/T)GGGAA intron-variant

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

Relevant External Links for KRT14 Gene

HapMap Linkage Disequilibrium report
KRT14
Human Gene Mutation Database (HGMD)
KRT14

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

Disorders for KRT14 Gene

(6) OMIM Diseases for KRT14 Gene (148066)

UniProtKB/Swiss-Prot

K1C14_HUMAN
  • 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.29}. 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.
  • 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.29}. 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.
  • 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.
  • 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.

(84) Novoseek inferred disease relationships for KRT14 Gene

Disease -log(P) Hits PubMed IDs
epidermolysis bullosa simplex 96.2 72
epidermolysis bullosa simplex, dowling-meara type 73.2 2
epidermolysis bullosa 71.5 4
myoepithelioma 70 3
skin diseases genetic 62.8 1

Relevant External Links for KRT14

GeneTests
KRT14
GeneReviews
KRT14
Genetic Association Database (GAD)
KRT14
Human Genome Epidemiology (HuGE) Navigator
KRT14
genes like me logo Genes that share disorders with KRT14: view

Publications for KRT14 Gene

  1. Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. (PMID: 7506097) Rugg E.L. … Lane E.B. (Nat. Genet. 1993) 3 4 23
  2. A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375. (PMID: 7506606) Chen M.A. … Epstein E.H. Jr. (Hum. Mol. Genet. 1993) 3 4 23
  3. A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. (PMID: 7526926) Yamanishi K. … Yasuno H. (Hum. Mol. Genet. 1994) 3 4 23
  4. A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. (PMID: 7526933) Hovnanian A. … Goossens M. (Nat. Genet. 1993) 3 4 23
  5. A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. (PMID: 7688405) Stephens K. … Spencer A. (J. Invest. Dermatol. 1993) 3 4 23

Products for KRT14 Gene

Sources for KRT14 Gene

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