KRT17
Keratin, type I cytoskeletal 17
Also known as: K1C17_HUMAN, PCHC1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q04695
- Gene
- KRT17
- Ensembl
- ENSG00000128422
- Chromosome
- 17
- Canonical length
- 432 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Intermediate filaments
OverviewNCBI Gene
This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]
Canonical amino-acid sequenceUniProt
432 residues, UniProt reviewed canonical sequence.
>Q04695|KRT17
1 MTTSIRQFTS SSSIKGSSGL GGGSSRTSCR LSGGLGAGSC RLGSAGGLGS TLGGSSYSSC
61 YSFGSGGGYG SSFGGVDGLL AGGEKATMQN LNDRLASYLD KVRALEEANT ELEVKIRDWY
121 QRQAPGPARD YSQYYRTIEE LQNKILTATV DNANILLQID NARLAADDFR TKFETEQALR
181 LSVEADINGL RRVLDELTLA RADLEMQIEN LKEELAYLKK NHEEEMNALR GQVGGEINVE
241 MDAAPGVDLS RILNEMRDQY EKMAEKNRKD AEDWFFSKTE ELNREVATNS ELVQSGKSEI
301 SELRRTMQAL EIELQSQLSM KASLEGNLAE TENRYCVQLS QIQGLIGSVE EQLAQLRCEM
361 EQQNQEYKIL LDVKTRLEQE IATYRRLLEG EDAHLTQYKK EPVTTRQVRT IVEEVQDGKV
421 ISSREQVHQT TRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KRT17 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)
- 0.54
- Highest tissue expression
- 954 nTPM
Expression across tissuesHPA
Tissue
- skin: 954 nTPM
- urinary bladder: 591 nTPM
- breast: 410 nTPM
- esophagus: 334 nTPM
- salivary gland: 289 nTPM
- vagina: 257 nTPM
Single-cell type
- epididymal basal cells: 6,663 nCPM
- breast myoepithelial cells: 4,203 nCPM
- suprabasal keratinocytes: 2,631 nCPM
- basal keratinocytes: 2,278 nCPM
- esophageal apical cells: 2,168 nCPM
- esophageal suprabasal cells: 2,049 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 12 nTPM
- basal ganglia: 4.5 nTPM
- white matter: 4 nTPM
- hippocampal formation: 2.2 nTPM
- medulla oblongata: 2 nTPM
- pons: 2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KRT17.
Disease | AllUniProt
Conditions KRT17 is implicated in, by any mechanism.
- Pachyonychia congenita 2 (PC2) MIM:167210
- Steatocystoma multiplex (SM) MIM:184500
Disease | GeneticClinVar
18 pathogenic / likely-pathogenic of 189 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Pachyonychia congenita 2
- Steatocystoma multiplex
- Abnormality of the skin
- Inborn genetic diseases
- Nonsyndromic congenital nail disorder 4
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)
- 1.34
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.49
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
- epithelial cell differentiation
- hair follicle morphogenesis
- intermediate filament organization
- keratinization
- morphogenesis of an epithelium
- positive regulation of cell growth
- positive regulation of hair follicle development
- positive regulation of translation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KRT17 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 KRT17 as an antibody target. Whether an autoantibody or antibody against KRT17 could matter depends on whether native KRT17 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KRT17 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 KRT17 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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