KRT5
Keratin, type II cytoskeletal 5
Also known as: CK-5, EBS2, K2C5_HUMAN, KRT5A
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P13647
- Gene
- KRT5
- Ensembl
- ENSG00000186081
- Chromosome
- 12
- Canonical length
- 590 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Intermediate filaments
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
590 residues, UniProt reviewed canonical sequence.
>P13647|KRT5
1 MSRQSSVSFR SGGSRSFSTA SAITPSVSRT SFTSVSRSGG GGGGGFGRVS LAGACGVGGY
61 GSRSLYNLGG SKRISISTSG GSFRNRFGAG AGGGYGFGGG AGSGFGFGGG AGGGFGLGGG
121 AGFGGGFGGP GFPVCPPGGI QEVTVNQSLL TPLNLQIDPS IQRVRTEERE QIKTLNNKFA
181 SFIDKVRFLE QQNKVLDTKW TLLQEQGTKT VRQNLEPLFE QYINNLRRQL DSIVGERGRL
241 DSELRNMQDL VEDFKNKYED EINKRTTAEN EFVMLKKDVD AAYMNKVELE AKVDALMDEI
301 NFMKMFFDAE LSQMQTHVSD TSVVLSMDNN RNLDLDSIIA EVKAQYEEIA NRSRTEAESW
361 YQTKYEELQQ TAGRHGDDLR NTKHEISEMN RMIQRLRAEI DNVKKQCANL QNAIADAEQR
421 GELALKDARN KLAELEEALQ KAKQDMARLL REYQELMNTK LALDVEIATY RKLLEGEECR
481 LSGEGVGPVN ISVVTSSVSS GYGSGSGYGG GLGGGLGGGL GGGLAGGSSG SYYSSSSGGV
541 GLGGGLSVGG SGFSASSGRG LGVGFGSGGG SSSSVKFVST TSSSRKSFKSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KRT5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.6
- Highest tissue expression
- 6,496 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 6,496 nTPM
- skin: 5,567 nTPM
- vagina: 2,417 nTPM
- cervix: 2,250 nTPM
- salivary gland: 989 nTPM
- tonsil: 608 nTPM
Single-cell type
- esophageal basal cells: 12,162 nCPM
- esophageal suprabasal cells: 8,166 nCPM
- basal keratinocytes: 7,750 nCPM
- ocular epithelial cells: 6,624 nCPM
- suprabasal keratinocytes: 3,359 nCPM
- esophageal apical cells: 1,434 nCPM
Immune cell
- plasmacytoid DC: 33 nTPM
- total PBMC: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- choroid plexus: 130 nTPM
- hippocampal formation: 3.7 nTPM
- basal ganglia: 1.8 nTPM
- cerebellum: 1.5 nTPM
- cerebral cortex: 1.2 nTPM
- thalamus: 1.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KRT5.
Disease | AllUniProt
Conditions KRT5 is implicated in, by any mechanism.
- Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) MIM:619555
- Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) MIM:619588
- Epidermolysis bullosa simplex 2C, localized (EBS2C) MIM:619594
- Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive (EBS2D) MIM:619599
- Epidermolysis bullosa simplex 2E, with migratory circinate erythema (EBS2E) MIM:609352
- Epidermolysis bullosa simplex 2F, with mottled pigmentation (EBS2F) MIM:131960
- Dowling-Degos disease 1 (DDD1) MIM:179850
Disease | GeneticClinVar
95 pathogenic / likely-pathogenic of 397 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Epidermolysis bullosa simplex
- KRT5-related disorder
- Epidermolysis bullosa simplex 2B, generalized intermediate
- Epidermolysis bullosa simplex 2C, localized
- Epidermolysis bullosa simplex 2A, generalized severe
Disease | ImmuneIEDB
Conditions an epitope on KRT5 was assayed in.
- 1-chloro-2 T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.44
- gnomAD pLI
- 0.64
- gnomAD missense Z
- 0.23
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- epidermis development
- intermediate filament organization
- keratinization
- regulation of cell migration
- regulation of protein localization
- response to mechanical stimulus
- intermediate filament polymerization
Molecular functions
- scaffold protein binding
- structural constituent of cytoskeleton
- structural constituent of skin epidermis
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KRT5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KRT5 as an antibody target. Whether an autoantibody or antibody against KRT5 could matter depends on whether native KRT5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KRT5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label KRT5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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