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    KRT5 keratin 5 [ Homo sapiens (human) ]

    Gene ID: 3852, updated on 28-Oct-2024

    Summary

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    Official Symbol
    KRT5provided by HGNC
    Official Full Name
    keratin 5provided by HGNC
    Primary source
    HGNC:HGNC:6442
    See related
    Ensembl:ENSG00000186081 MIM:148040; AllianceGenome:HGNC:6442
    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
    K5; CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B; EBS2C; EBS2D; EBS2E; EBS2F; KRT5A
    Summary
    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]
    Expression
    Biased expression in skin (RPKM 2610.9) and esophagus (RPKM 1766.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See KRT5 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52514575..52520394, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52479176..52484995, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52908359..52914178, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 6C Neighboring gene keratin 6A Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52916085-52917050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52941449-52941950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52941951-52942450 Neighboring gene keratin 71 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29072 Neighboring gene keratin 74

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex. Tang HY, et al. Clin Exp Dermatol, 2009 Dec. PMID 20055872
    2. Cytokeratin 5/6 immunostaining in cutaneous adnexal neoplasms and metastatic adenocarcinoma. Plumb SJ, et al. Am J Dermatopathol, 2004 Dec. PMID 15618924
    3. Epidermal keratin 5 expression and distribution is under dermal influence. Cario M, et al. Pigment Cell Melanoma Res, 2020 May. PMID 31692218
    4. A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex. Li JG, et al. Clin Exp Dermatol, 2004 Sep. PMID 15347343
    5. Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case. Nagao-Watanabe M, et al. Clin Genet, 2004 Sep. PMID 15324323

    See all (302) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lung extracellular matrix modulates KRT5[+] basal cell activity in pulmonary fibrosis.
      Title: Lung extracellular matrix modulates KRT5(+) basal cell activity in pulmonary fibrosis.
    2. Keratin 5 in Lung Cancer Specimens: Comparison of Four Antibody Clones and KRT5 mRNA-ISH.
      Title: Keratin 5 in Lung Cancer Specimens: Comparison of Four Antibody Clones and KRT5 mRNA-ISH.
    3. KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes.
      Title: KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes.
    4. Clinicopathological features of cytokeratin 5-positive pulmonary adenocarcinoma.
      Title: Clinicopathological features of cytokeratin 5-positive pulmonary adenocarcinoma.
    5. Cytokeratin 5/6 expression in pT1 bladder cancer predicts intravesical recurrence in patients treated with bacillus Calmette-Guerin instillation.
      Title: Cytokeratin 5/6 expression in pT1 bladder cancer predicts intravesical recurrence in patients treated with bacillus Calmette-Guérin instillation.
    6. Cytokeratins 5 and 17 Maintain an Aggressive Epithelial State in Basal-Like Breast Cancer.
      Title: Cytokeratins 5 and 17 Maintain an Aggressive Epithelial State in Basal-Like Breast Cancer.
    7. A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5.
      Title: A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5.
    8. Inhibition of Notch activity promotes pancreatic cytokeratin 5-positive cell differentiation to beta cells and improves glucose homeostasis following acute pancreatitis.
      Title: Inhibition of Notch activity promotes pancreatic cytokeratin 5-positive cell differentiation to beta cells and improves glucose homeostasis following acute pancreatitis.
    9. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
      Title: Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
    10. Molecular origin of the effects of mutation on the structure and mechanical properties of human epithelial keratin K5/K14.
      Title: Molecular origin of the effects of mutation on the structure and mechanical properties of human epithelial keratin K5/K14.
    Submit: New GeneRIF Correction See all GeneRIFs (133)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Dowling-Degos disease 1
    MedGen: C4552092 OMIM: 179850 GeneReviews: Not available
    		Compare labs
    Epidermolysis bullosa simplex 1A, generalized severe
    MedGen: C0079295 OMIM: 131760 GeneReviews: Epidermolysis Bullosa Simplex
    		Compare labs
    Epidermolysis bullosa simplex 2A, generalized severe
    MedGen: CN301077 OMIM: 619555 GeneReviews: Epidermolysis Bullosa Simplex
    		Compare labs
    Epidermolysis bullosa simplex 2B, generalized intermediate
    MedGen: C5562009 OMIM: 619588 GeneReviews: Not available
    		Compare labs
    Epidermolysis bullosa simplex 2C, localized
    MedGen: C5562011 OMIM: 619594 GeneReviews: Epidermolysis Bullosa Simplex
    		Compare labs
    Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
    MedGen: C5562014 OMIM: 619599 GeneReviews: Epidermolysis Bullosa Simplex
    		Compare labs
    Epidermolysis bullosa simplex with migratory circinate erythema
    MedGen: C1836284 OMIM: 609352 GeneReviews: Epidermolysis Bullosa Simplex
    		Compare labs
    Epidermolysis bullosa simplex with mottled pigmentation
    MedGen: C0432316 OMIM: 131960 GeneReviews: Epidermolysis Bullosa Simplex
    		Compare labs

    EBI GWAS Catalog

    Description
    Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables structural constituent of skin epidermis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intermediate filament polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in keratinization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to mechanical stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in intermediate filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in keratin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in keratin filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    keratin, type II cytoskeletal 5
    Names
    58 kda cytokeratin
    CK-5
    cytokeratin-5
    epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types
    keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)
    keratin 5, type II
    type-II keratin Kb5

    NCBI Reference Sequences (RefSeq)

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    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_008297.1 RefSeqGene

      Range
      5066..10885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000424.4 → NP_000415.2  keratin, type II cytoskeletal 5

      See identical proteins and their annotated locations for NP_000415.2

      Status: REVIEWED

      Source sequence(s)
      BC071906, M21389
      Consensus CDS
      CCDS8830.1
      UniProtKB/Swiss-Prot
      P13647, Q6PI71, Q6UBJ0, Q8TA91
      UniProtKB/TrEMBL
      B4E1T1
      Related
      ENSP00000252242.4, ENST00000252242.9
      Conserved Domains (3) summary
      pfam00038
      Location:167 → 480
      Filament; Intermediate filament protein
      pfam16208
      Location:16 → 164
      Keratin_2_head; Keratin type II head
      cl01888
      Location:393 → 453
      DUF883; Bacterial protein of unknown function (DUF883)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      52514575..52520394 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52479176..52484995 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13647.3 GenPept UniProtKB/Swiss-Prot:P13647

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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