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Aliases for KRT17 Gene

Aliases for KRT17 Gene

  • Keratin 17 2 3
  • Keratin 17, Type I 2 3 5
  • Cytokeratin-17 3 4
  • Keratin-17 3 4
  • CK-17 3 4
  • 39.1 3 4
  • K17 3 4
  • PCHC1 3
  • PC2 3
  • PC 3

External Ids for KRT17 Gene

Previous HGNC Symbols for KRT17 Gene

  • PCHC1

Previous GeneCards Identifiers for KRT17 Gene

  • GC17M039265
  • GC17M041891
  • GC17M039545
  • GC17M040148
  • GC17M037029
  • GC17M039775
  • GC17M035538

Summaries for KRT17 Gene

Entrez Gene Summary for KRT17 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]

GeneCards Summary for KRT17 Gene

KRT17 (Keratin 17) is a Protein Coding gene. Diseases associated with KRT17 include steatocystoma multiplex and pachyonychia congenita 2. Among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include structural molecule activity and MHC class II receptor activity. An important paralog of this gene is KRT12.

UniProtKB/Swiss-Prot for KRT17 Gene

  • Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair (By similarity). Required for the correct growth of hair follicles, in particular for the persistence of the anagen (growth) state (By similarity). Modulates the function of TNF-alpha in the specific context of hair cycling. Regulates protein synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR pathway (By similarity). Involved in tissue repair. May be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial "stem cells". Acts as a promoter of epithelial proliferation by acting a regulator of immune response in skin: promotes Th1/Th17-dominated immune environment contributing to the development of basaloid skin tumors (By similarity). May act as an autoantigen in the immunopathogenesis of psoriasis, with certain peptide regions being a major target for autoreactive T-cells and hence causing their proliferation.

Gene Wiki entry for KRT17 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT17 Gene

Genomics for KRT17 Gene

Regulatory Elements for KRT17 Gene

Enhancers for KRT17 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KRT17 on UCSC Golden Path with GeneCards custom track

Promoters for KRT17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KRT17 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT17 Gene

Chromosome:
17
Start:
41,619,437 bp from pter
End:
41,624,842 bp from pter
Size:
5,406 bases
Orientation:
Minus strand

Genomic View for KRT17 Gene

Genes around KRT17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT17 Gene

Proteins for KRT17 Gene

  • Protein details for KRT17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04695-K1C17_HUMAN
    Recommended name:
    Keratin, type I cytoskeletal 17
    Protein Accession:
    Q04695
    Secondary Accessions:
    • A5Z1M9
    • A5Z1N0
    • A5Z1N1
    • A5Z1N2
    • A6NDV6
    • A6NKQ2
    • Q6IP98
    • Q8N1P6

    Protein attributes for KRT17 Gene

    Size:
    432 amino acids
    Molecular mass:
    48106 Da
    Quaternary structure:
    • Heterodimer of a type I and a type II keratin. KRT17 associates with KRT6 isomers (KRT6A or KRT6B). Interacts with TRADD and SFN (By similarity).
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
    SequenceCaution:
    • Sequence=AAH72018.1; Type=Frameshift; Positions=109; Evidence={ECO:0000305};

neXtProt entry for KRT17 Gene

Proteomics data for KRT17 Gene at MOPED

Post-translational modifications for KRT17 Gene

  • Phosphorylation at Ser-44 occurs in a growth- and stress-dependent fashion in skin keratinocytes, it has no effect on filament organization.
  • Ubiquitination at Lys 399
  • Modification sites at PhosphoSitePlus

Other Protein References for KRT17 Gene

No data available for DME Specific Peptides for KRT17 Gene

Domains & Families for KRT17 Gene

Gene Families for KRT17 Gene

Suggested Antigen Peptide Sequences for KRT17 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q04695

UniProtKB/Swiss-Prot:

K1C17_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT17: view

Function for KRT17 Gene

Molecular function for KRT17 Gene

GENATLAS Biochemistry:
keratin 17,type I
UniProtKB/Swiss-Prot Function:
Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair (By similarity). Required for the correct growth of hair follicles, in particular for the persistence of the anagen (growth) state (By similarity). Modulates the function of TNF-alpha in the specific context of hair cycling. Regulates protein synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR pathway (By similarity). Involved in tissue repair. May be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial "stem cells". Acts as a promoter of epithelial proliferation by acting a regulator of immune response in skin: promotes Th1/Th17-dominated immune environment contributing to the development of basaloid skin tumors (By similarity). May act as an autoantigen in the immunopathogenesis of psoriasis, with certain peptide regions being a major target for autoreactive T-cells and hence causing their proliferation.
UniProtKB/Swiss-Prot Induction:
Induced in damaged or stressed epidermis. Induced by the cytokines interferon-gamma (IFN-gamma), tumor necrosis factor alpha (TNF-alpha) and transforming growth factor-alpha (TGF-alpha), and by the potent NF-kappa B inhibitor compounds Bay 11-7082 and Bay 11-7085. Down-regulated by the drug Imatinib.

Gene Ontology (GO) - Molecular Function for KRT17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042289 MHC class II protein binding IPI 15795121
genes like me logo Genes that share ontologies with KRT17: view
genes like me logo Genes that share phenotypes with KRT17: view

Human Phenotype Ontology for KRT17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRT17 Gene

MGI Knock Outs for KRT17:

Animal Model Products

miRNA for KRT17 Gene

miRTarBase miRNAs that target KRT17

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KRT17 Gene

Localization for KRT17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KRT17 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT17 Gene COMPARTMENTS Subcellular localization image for KRT17 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
cytosol 3
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for KRT17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with KRT17: view

Pathways & Interactions for KRT17 Gene

genes like me logo Genes that share pathways with KRT17: view

Pathways by source for KRT17 Gene

1 Cell Signaling Technology pathway for KRT17 Gene
1 GeneGo (Thomson Reuters) pathway for KRT17 Gene

Gene Ontology (GO) - Biological Process for KRT17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IMP 15795121
GO:0008544 epidermis development TAS 7539673
GO:0030307 positive regulation of cell growth IEA --
GO:0045109 intermediate filament organization IEA --
genes like me logo Genes that share ontologies with KRT17: view

No data available for SIGNOR curated interactions for KRT17 Gene

Drugs & Compounds for KRT17 Gene

(7) Drugs for KRT17 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for KRT17 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT17: view

Transcripts for KRT17 Gene

Unigene Clusters for KRT17 Gene

Keratin 17:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRT17 Gene

No ASD Table

Relevant External Links for KRT17 Gene

GeneLoc Exon Structure for
KRT17
ECgene alternative splicing isoforms for
KRT17

Expression for KRT17 Gene

mRNA expression in normal human tissues for KRT17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT17 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x15.9), Skin - Sun Exposed (Lower leg) (x9.0), Breast - Mammary Tissue (x7.6), Minor Salivary Gland (x6.4), and Esophagus - Mucosa (x5.5).

Protein differential expression in normal tissues from HIPED for KRT17 Gene

This gene is overexpressed in Hair follicle (38.2) and Brain (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT17 Gene



SOURCE GeneReport for Unigene cluster for KRT17 Gene Hs.2785

mRNA Expression by UniProt/SwissProt for KRT17 Gene

Q04695-K1C17_HUMAN
Tissue specificity: Expressed in the outer root sheath and medulla region of hair follicle specifically from eyebrow and beard, digital pulp, nail matrix and nail bed epithelium, mucosal stratified squamous epithelia and in basal cells of oral epithelium, palmoplantar epidermis and sweat and mammary glands. Also expressed in myoepithelium of prostate, basal layer of urinary bladder, cambial cells of sebaceous gland and in exocervix (at protein level).
genes like me logo Genes that share expression patterns with KRT17: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for KRT17 Gene

Orthologs for KRT17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT17 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KRT17 35
  • 88.27 (n)
  • 89.04 (a)
KRT17 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT17 35
  • 91.28 (n)
  • 95.37 (a)
KRT17 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt17 35
  • 90.59 (n)
  • 95.37 (a)
Krt17 16
Krt17 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KRT17 35
  • 99.31 (n)
  • 99.54 (a)
KRT17 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krt17 35
  • 91.05 (n)
  • 95.6 (a)
oppossum
(Monodelphis domestica)
Mammalia KRT17 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KRT17 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 69 (a)
ManyToMany
KRT14 36
  • 69 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 69 (a)
ManyToMany
-- 36
  • 69 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490897 35
  • 70.27 (n)
  • 74.43 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
wu:fb17f05 35
  • 66.13 (n)
  • 62.9 (a)
Species with no ortholog for KRT17:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KRT17 Gene

ENSEMBL:
Gene Tree for KRT17 (if available)
TreeFam:
Gene Tree for KRT17 (if available)

Paralogs for KRT17 Gene

genes like me logo Genes that share paralogs with KRT17: view

Variants for KRT17 Gene

Sequence variations from dbSNP and Humsavar for KRT17 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_003847 Pachyonychia congenita 2 (PC2)
VAR_003848 Steatocystoma multiplex (SM)
VAR_003849 Pachyonychia congenita 2 (PC2)
VAR_003850 -
VAR_003851 Pachyonychia congenita 2 (PC2)

Structural Variations from Database of Genomic Variants (DGV) for KRT17 Gene

Variant ID Type Subtype PubMed ID
dgv961e1 CNV Complex 17122850
dgv962e1 CNV Complex 17122850
nsv827992 CNV Gain 20364138
esv34903 CNV Gain 17911159

Variation tolerance for KRT17 Gene

Residual Variation Intolerance Score: 34.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.36; 70.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT17 Gene

HapMap Linkage Disequilibrium report
KRT17
Human Gene Mutation Database (HGMD)
KRT17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT17 Gene

Disorders for KRT17 Gene

MalaCards: The human disease database

(16) MalaCards diseases for KRT17 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
steatocystoma multiplex
  • sebocystomatosis
pachyonychia congenita 2
  • pachyonychia congenita, type 2
sebocystomatosis
  • steatocystoma multiplex
pachyonychia congenita
  • jackson-lawler type pachyonychia congenita
krt17-related pachyonychia congenita
  • pc-k17
- elite association - COSMIC cancer census association via MalaCards
Search KRT17 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K1C17_HUMAN
  • Note=KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris.
  • Pachyonychia congenita 2 (PC2) [MIM:167210]: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth. {ECO:0000269 PubMed:10571744, ECO:0000269 PubMed:11348474, ECO:0000269 PubMed:11874497, ECO:0000269 PubMed:11886499, ECO:0000269 PubMed:15102078, ECO:0000269 PubMed:15795125, ECO:0000269 PubMed:16250206, ECO:0000269 PubMed:16620218, ECO:0000269 PubMed:16625196, ECO:0000269 PubMed:17719747, ECO:0000269 PubMed:18547302, ECO:0000269 PubMed:19470054, ECO:0000269 PubMed:21326300, ECO:0000269 PubMed:23278621, ECO:0000269 PubMed:23855588, ECO:0000269 PubMed:7539673, ECO:0000269 PubMed:9008238, ECO:0000269 PubMed:9767294}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Steatocystoma multiplex (SM) [MIM:184500]: Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. {ECO:0000269 PubMed:16620218, ECO:0000269 PubMed:9008238, ECO:0000269 PubMed:9767294}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KRT17

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRT17
genes like me logo Genes that share disorders with KRT17: view

No data available for Genatlas for KRT17 Gene

Publications for KRT17 Gene

  1. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. (PMID: 7539673) McLean W.H.I. … Munro C.S. (Nat. Genet. 1995) 2 3 4 23 67
  2. Characterization of the human gene encoding cytokeratin 17 and its expression pattern. (PMID: 1281771) Troyanovsky S.M. … Franke W.W. (Eur. J. Cell Biol. 1992) 2 3 23
  3. Keratin 17 identified by proteomic analysis may be involved in tumor angiogenesis. (PMID: 19558792) Xu Y. … Wei Y.Q. (BMB Rep 2009) 3 23
  4. A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb. (PMID: 18547302) Tsuda T. … Yamanishi K. (Br. J. Dermatol. 2008) 3 23
  5. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (PMID: 17719747) Liao H. … Smith F.J. (J. Dermatol. Sci. 2007) 3 23

Products for KRT17 Gene

Sources for KRT17 Gene

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