KRT5 keratin 5 [Homo sapiens (human)] - Gene

Summary

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

Location:: 12q13.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52514575..52520394, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52479176..52484995, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52908359..52914178, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lung extracellular matrix modulates KRT5[+] basal cell activity in pulmonary fibrosis.
Title: Lung extracellular matrix modulates KRT5(+) basal cell activity in pulmonary fibrosis.
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.
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.
Clinicopathological features of cytokeratin 5-positive pulmonary adenocarcinoma.
Title: Clinicopathological features of cytokeratin 5-positive pulmonary adenocarcinoma.
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.
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.
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.
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.
Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
Title: Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S2098 (e-PCR)
- UniSTS:38735

BARC0027 (e-PCR)
- UniSTS:255312

D12S759 (e-PCR)
- UniSTS:148908

STS-D29027 (e-PCR)
- UniSTS:33465

RH77823 (e-PCR)
- UniSTS:38883

SHGC-153281 (e-PCR)
- UniSTS:177654

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 more info	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 more info	PubMed
located_in nucleus	HDA more info	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

NG_008297.1 RefSeqGene

Range

5066..10885

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)