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Aliases for KRT5 Gene

Aliases for KRT5 Gene

  • Keratin 5 2 3
  • Keratin 5, Type II 2 3 5
  • Keratin 5 (Epidermolysis Bullosa Simplex, Dowling-Meara/Kobner/Weber-Cockayne Types) 2 3
  • Epidermolysis Bullosa Simplex 2 Dowling-Meara/Kobner/Weber-Cockayne Types 2 3
  • Type-II Keratin Kb5 3 4
  • Cytokeratin-5 3 4
  • CK-5 3 4
  • K5 3 4
  • 58 Kda Cytokeratin 3
  • 58 KDa Cytokeratin 4
  • Keratin-5 4
  • KRT5A 3
  • DDD1 3
  • EBS2 3
  • CK5 3
  • DDD 3

External Ids for KRT5 Gene

Previous HGNC Symbols for KRT5 Gene

  • EBS2

Previous GeneCards Identifiers for KRT5 Gene

  • GC12M052976
  • GC12M052938
  • GC12M052625
  • GC12M051194
  • GC12M049953
  • GC12M052908

Summaries for KRT5 Gene

Entrez Gene Summary for KRT5 Gene

  • The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT5 Gene

KRT5 (Keratin 5) is a Protein Coding gene. Diseases associated with KRT5 include epidermolysis bullosa simplex, weber-cockayne type and epidermolysis bullosa simplex, dowling-meara type. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Glucocorticoid receptor regulatory network. GO annotations related to this gene include structural molecule activity and scaffold protein binding. An important paralog of this gene is KRT73.

Gene Wiki entry for KRT5 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT5 Gene

Genomics for KRT5 Gene

Regulatory Elements for KRT5 Gene

Promoters for KRT5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KRT5 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT5 Gene

Chromosome:
12
Start:
52,514,575 bp from pter
End:
52,520,687 bp from pter
Size:
6,113 bases
Orientation:
Minus strand

Genomic View for KRT5 Gene

Genes around KRT5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT5 Gene

Proteins for KRT5 Gene

  • Protein details for KRT5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13647-K2C5_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 5
    Protein Accession:
    P13647
    Secondary Accessions:
    • Q6PI71
    • Q6UBJ0
    • Q8TA91

    Protein attributes for KRT5 Gene

    Size:
    590 amino acids
    Molecular mass:
    62378 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins. Keratin-5 associates with keratin-14. Interacts with TCHP.
    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 KRT5 Gene

neXtProt entry for KRT5 Gene

Proteomics data for KRT5 Gene at MOPED

Post-translational modifications for KRT5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT5 Gene

No data available for DME Specific Peptides for KRT5 Gene

Domains & Families for KRT5 Gene

Gene Families for KRT5 Gene

Suggested Antigen Peptide Sequences for KRT5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P13647

UniProtKB/Swiss-Prot:

K2C5_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT5: view

Function for KRT5 Gene

Molecular function for KRT5 Gene

GENATLAS Biochemistry:
keratin 5,type II,basal layer,dimerizing with KRT14
genes like me logo Genes that share phenotypes with KRT5: view

Human Phenotype Ontology for KRT5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRT5 Gene

MGI Knock Outs for KRT5:

Animal Model Products

miRNA for KRT5 Gene

miRTarBase miRNAs that target KRT5

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for KRT5 Gene

Localization for KRT5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT5 Gene COMPARTMENTS Subcellular localization image for KRT5 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
mitochondrion 3
plasma membrane 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KRT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 22170488
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0045095 keratin filament IEA,IDA 7679677
genes like me logo Genes that share ontologies with KRT5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT5 Gene

Pathways & Interactions for KRT5 Gene

genes like me logo Genes that share pathways with KRT5: view

Pathways by source for KRT5 Gene

1 BioSystems pathway for KRT5 Gene
1 GeneGo (Thomson Reuters) pathway for KRT5 Gene

Gene Ontology (GO) - Biological Process for KRT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031581 hemidesmosome assembly TAS --
genes like me logo Genes that share ontologies with KRT5: view

No data available for SIGNOR curated interactions for KRT5 Gene

Drugs & Compounds for KRT5 Gene

(21) Drugs for KRT5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(8) Additional Compounds for KRT5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT5: view

Transcripts for KRT5 Gene

Unigene Clusters for KRT5 Gene

Keratin 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT5 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11
SP1: - -
SP2: -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for KRT5 Gene

GeneLoc Exon Structure for
KRT5
ECgene alternative splicing isoforms for
KRT5

Expression for KRT5 Gene

mRNA expression in normal human tissues for KRT5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT5 Gene

This gene is overexpressed in Esophagus - Mucosa (x17.2), Skin - Not Sun Exposed (Suprapubic) (x11.9), Skin - Sun Exposed (Lower leg) (x10.0), and Vagina (x5.8).

Protein differential expression in normal tissues from HIPED for KRT5 Gene

This gene is overexpressed in Hair follicle (36.9) and Saliva (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT5 Gene



SOURCE GeneReport for Unigene cluster for KRT5 Gene Hs.433845

genes like me logo Genes that share expression patterns with KRT5: view

Protein tissue co-expression partners for KRT5 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for KRT5 Gene

Orthologs for KRT5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KRT5 35
  • 89.36 (n)
  • 93.57 (a)
KRT5 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT5 35
  • 89.29 (n)
  • 92.81 (a)
KRT5 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt5 35
  • 85.57 (n)
  • 88.66 (a)
Krt5 16
Krt5 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krt5 35
  • 88.16 (n)
  • 93.02 (a)
oppossum
(Monodelphis domestica)
Mammalia KRT5 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KRT5 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves KRT5 35
  • 72.88 (n)
  • 73.16 (a)
KRT6A 36
  • 73 (a)
ManyToMany
KRT75 36
  • 67 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia krt5.2 35
  • 68.22 (n)
  • 71.97 (a)
Species with no ortholog for KRT5:
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRT5 Gene

ENSEMBL:
Gene Tree for KRT5 (if available)
TreeFam:
Gene Tree for KRT5 (if available)

Paralogs for KRT5 Gene

Pseudogenes.org Pseudogenes for KRT5 Gene

genes like me logo Genes that share paralogs with KRT5: view

Variants for KRT5 Gene

Sequence variations from dbSNP and Humsavar for KRT5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs11170164 - 52,519,884(-) TCCTG(A/G)AGGTA reference, missense
rs58058996 Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) 52,519,815(-) CAGCA(G/T)CCAGA reference, missense
rs60586163 Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS), Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) 52,519,137(-) CAGAA(A/C/G/T)AAGGT reference, synonymous-codon, missense
rs58072617 Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) 52,517,702(-) CTCCA(A/C/T)GGACA reference, missense
VAR_003875 Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)

Structural Variations from Database of Genomic Variants (DGV) for KRT5 Gene

Variant ID Type Subtype PubMed ID
nsv832412 CNV Loss 17160897
nsv709 CNV Insertion 18451855

Variation tolerance for KRT5 Gene

Residual Variation Intolerance Score: 82.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.17; 84.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT5 Gene

HapMap Linkage Disequilibrium report
KRT5
Human Gene Mutation Database (HGMD)
KRT5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT5 Gene

Disorders for KRT5 Gene

MalaCards: The human disease database

(89) MalaCards diseases for KRT5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa simplex, weber-cockayne type
  • epidermolysis bullosa of hands and feet
epidermolysis bullosa simplex, dowling-meara type
  • dowling-meara type epidermolysis bullosa simplex
epidermolysis bullosa simplex-mp
  • epidermolysis bullosa simplex with mottled pigmentation
epidermylysis bullosa simplex-mcr
  • epidermolysis bullosa simplex with migratory circinate erythema
epidermolysis bullosa simplex, koebner type
  • epidermolysis bullosa simplex, generalized
- elite association - COSMIC cancer census association via MalaCards
Search KRT5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K2C5_HUMAN
  • Dowling-Degos disease 1 (DDD1) [MIM:179850]: An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. {ECO:0000269 PubMed:16465624}. 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:10730767, ECO:0000269 PubMed:12655565, ECO:0000269 PubMed:1372711, ECO:0000269 PubMed:16786515, ECO:0000269 PubMed:16882168, ECO:0000269 PubMed:21623745, ECO:0000269 PubMed:8757772, ECO:0000269 PubMed:9036937, ECO:0000269 PubMed:9406827, ECO:0000269 PubMed:9989794, ECO:0000269 Ref.16}. 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:11407988, ECO:0000269 PubMed:11973334, ECO:0000269 PubMed:16882168, ECO:0000269 PubMed:21623745, ECO:0000269 PubMed:7534039, ECO:0000269 PubMed:7686424, ECO:0000269 PubMed:9740251, ECO:0000269 PubMed:9989794}. 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:10782015, ECO:0000269 PubMed:12655565, ECO:0000269 PubMed:12707098, ECO:0000269 PubMed:14723728, ECO:0000269 PubMed:15140024, ECO:0000269 PubMed:15347343, ECO:0000269 PubMed:16786515, ECO:0000269 PubMed:16882168, ECO:0000269 PubMed:21623745, ECO:0000269 PubMed:7506097, ECO:0000269 PubMed:7520042, ECO:0000269 PubMed:7688477, ECO:0000269 PubMed:8595431, ECO:0000269 PubMed:8807337, ECO:0000269 PubMed:9804357}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, with migratory circinate erythema (EBSMCE) [MIM:609352]: A form of intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS, with no evidence of tonofilament clumping. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS) [MIM:131960]: A form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and mottled pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules. {ECO:0000269 PubMed:10494094, ECO:0000269 PubMed:16882168, ECO:0000269 PubMed:21623745, ECO:0000269 PubMed:8799157}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KRT5

Genetic Association Database (GAD)
KRT5
Human Genome Epidemiology (HuGE) Navigator
KRT5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRT5
genes like me logo Genes that share disorders with KRT5: view

No data available for Genatlas for KRT5 Gene

Publications for KRT5 Gene

  1. A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. (PMID: 12925204) Gu L.-H. … Kitajima Y. (J. Invest. Dermatol. 2003) 3 4 48 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. Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes. (PMID: 20128788) Chamcheu J.C. … TAPrmAo H. (Br. J. Dermatol. 2010) 3 23
  5. A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of epidermolysis bullosa simplex. (PMID: 19220453) Bowden P.E. … Liovic M. (Exp. Dermatol. 2009) 3 23

Products for KRT5 Gene

Sources for KRT5 Gene

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