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KRT5 keratin 5 [ Homo sapiens (human) ]

Gene ID: 3852, updated on 15-Apr-2019

Summary

Official Symbol
KRT5provided by HGNC
Official Full Name
keratin 5provided by HGNC
Primary source
HGNC:HGNC:6442
See related
Ensembl:ENSG00000186081 MIM:148040
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; EBS2; 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

Genomic context

See KRT5 in Genome Data Viewer
Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (52514575..52520459, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52908359..52914328, 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Glucocorticoid receptor regulatory network, organism-specific biosystem (from Pathway Interaction Database)
    Glucocorticoid receptor regulatory network, organism-specific biosystem
    Glucocorticoid receptor regulatory network
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
scaffold protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
hemidesmosome assembly TAS
Traceable Author Statement
more info
 
keratinization TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
intermediate filament IDA
Inferred from Direct Assay
more info
PubMed 
keratin filament IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nucleus HDA PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

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)

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
    5001..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
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    52514575..52520459 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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