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KRT5 keratin 5 [ Homo sapiens (human) ]

Gene ID: 3852, updated on 2-Nov-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
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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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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
not available
Epidermolysis bullosa simplex 1A, generalized severe
MedGen: C0079295 OMIM: 131760 GeneReviews: Epidermolysis Bullosa Simplex
not available
Epidermolysis bullosa simplex 2A, generalized severe
MedGen: CN301077 OMIM: 619555 GeneReviews: Epidermolysis Bullosa Simplex
not available
Epidermolysis bullosa simplex 2B, generalized intermediate
MedGen: C5562009 OMIM: 619588 GeneReviews: Not available
not available
Epidermolysis bullosa simplex 2C, localized
MedGen: C5562011 OMIM: 619594 GeneReviews: Epidermolysis Bullosa Simplex
not available
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
MedGen: C5562014 OMIM: 619599 GeneReviews: Epidermolysis Bullosa Simplex
not available
Epidermolysis bullosa simplex with migratory circinate erythema
MedGen: C1836284 OMIM: 609352 GeneReviews: Epidermolysis Bullosa Simplex
not available
Epidermolysis bullosa simplex with mottled pigmentation
MedGen: C0432316 OMIM: 131960 GeneReviews: Epidermolysis Bullosa Simplex
not available

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

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