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KRT5 keratin 5 [ Homo sapiens (human) ]

Gene ID: 3852, updated on 6-Nov-2022

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
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Genomic context

See KRT5 in Genome Data Viewer
Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52514575..52520394, complement)
110 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_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 6C Neighboring gene keratin 6A Neighboring gene keratin 71 Neighboring gene keratin 74

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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

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_000424.4NP_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, Q8TA91
    Related
    ENSP00000252242.4, ENST00000252242.9
    Conserved Domains (3) summary
    pfam00038
    Location:167480
    Filament; Intermediate filament protein
    pfam16208
    Location:16164
    Keratin_2_head; Keratin type II head
    cl01888
    Location:393453
    DUF883; Bacterial protein of unknown function (DUF883)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)