KRT17 Gene (Protein Coding)

Keratin 17

GC17M041619
GIFtS:
47
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] See more...

Aliases for KRT17 Gene

Aliases for KRT17 Gene

  • Keratin 17 2 3 5
  • Keratin, Type I Cytoskeletal 17 3 4
  • Keratin 17, Type I 2 3
  • Cytokeratin-17 3 4
  • CK-17 3 4
  • 39.1 3 4
  • K17 3 4
  • Keratin-17 4
  • PCHC1 3
  • KRT17 5
  • 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 Cytoskeleton remodeling Neurofilaments and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include structural molecule activity and MHC class II receptor activity. An important paralog of this gene is KRT14.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for KRT17 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT17 Gene

Genomics for KRT17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KRT17 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J041620 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 254.5 +0.6 644 6.5 IKZF1 ZNF600 ATF2 CEBPA BRCA1 NFIC ZIC2 REST CEBPB ZNF341 KRT17 KRT9 KRT15 KRT14 KRT19 KRT40 ENSG00000234477 KRT37 KRT16 KRT36
GH17J040800 Promoter 0.3 EPDnew 250 +824.9 824870 0.1 ENSG00000264488 KRT28 LOC105371776 KRT17 KRT10
GH17J040799 Promoter 0.3 EPDnew 250 +825.2 825183 0.1 ENSG00000264488 KRT28 LOC105371776 KRT17 KRT27
GH17J041649 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 6 -29.8 -29804 9.8 BRCA1 NFIC ZIC2 REST PLRG1 FOXA1 ZNF148 NONO HES1 MBD2 RETREG3 ENSG00000267758 HSD17B1-AS1 HSD17B1 DHX58 ENSG00000259623 KRT14 CNP PSMC3IP KRT37
GH17J041578 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.1 +40.5 40505 10.9 ZNF654 NFIC POLR2A CTCF REST TRIM22 BHLHE40 TBP MAX EP300 KRT9 KRT14 ODAD4 KRT16 JUP KRT36 KRT15 KRT17 KRT13 KRT19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT17

Top Transcription factor binding sites by QIAGEN in the KRT17 gene promoter:
  • CRE-BP1
  • Gfi-1
  • Lmo2
  • p53
  • RREB-1
  • STAT1
  • STAT3

Genomic Locations for KRT17 Gene

Latest Assembly
chr17:41,619,442-41,624,842
(GRCh38/hg38)
Size:
5,401 bases
Orientation:
Minus strand

Previous Assembly
chr17:39,775,694-39,780,827
(GRCh37/hg19 by Entrez Gene)
Size:
5,134 bases
Orientation:
Minus strand

chr17:39,775,689-39,781,094
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for KRT17 Gene

Proteins for KRT17 Gene

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  • 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).
    SequenceCaution:
    • Sequence=AAH72018.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

neXtProt entry for KRT17 Gene

Protein Expression for KRT17 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Lys399
  • Modification sites at PhosphoSitePlus

Other Protein References for KRT17 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for KRT17 Gene

Domains & Families for KRT17 Gene

Gene Families for KRT17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KRT17 Gene

InterPro:
Blocks:
  • Intermediate filament protein
  • Type I keratin signature

Suggested Antigen Peptide Sequences for KRT17 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-17 (K1C17_HUMAN)

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

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  6. Cell Lines for research

Molecular function for KRT17 Gene

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.
GENATLAS Biochemistry:
keratin 17,type I

Phenotypes From GWAS Catalog for KRT17 Gene

Gene Ontology (GO) - Molecular Function for KRT17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 16189514
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:
  • Krt17 Krt17<tm1Cou>
  • Krt17 Krt17<tm1.1(KOMP)Vlcg>

Animal Models for research

miRNA for KRT17 Gene

miRTarBase miRNAs that target KRT17

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT17 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KRT17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045111 intermediate filament cytoskeleton IDA --
GO:0071944 cell periphery 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 BioSystems pathway for KRT17 Gene
2 Reactome pathways for KRT17 Gene
1 GeneGo (Thomson Reuters) pathway for KRT17 Gene
  • Cytoskeleton remodeling Keratin filaments
1 Cell Signaling Technology pathway for KRT17 Gene

SIGNOR curated interactions for KRT17 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KRT17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium IEA --
GO:0030307 positive regulation of cell growth IEA --
GO:0031069 hair follicle morphogenesis IEA,ISS --
GO:0031424 keratinization IEA,TAS --
GO:0045109 intermediate filament organization IEA --
genes like me logo Genes that share ontologies with KRT17: view

Drugs & Compounds for KRT17 Gene

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(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

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mRNA/cDNA for KRT17 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT17

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

No ASD Table

Relevant External Links for KRT17 Gene

GeneLoc Exon Structure for
KRT17

Expression for KRT17 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT17 Gene

mRNA expression in normal human tissues for KRT17 Gene
mRNA expression by BioGPS for KRT17 GenemRNA expression by GTEx 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 and MOPED for KRT17 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT17

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).

Evidence on tissue expression from TISSUES for KRT17 Gene

  • Nervous system(4.9)
  • Muscle(4.8)
  • Skin(4.8)
  • Pancreas(4.6)
  • Lung(4)
  • Thyroid gland(2.9)
  • Blood(2.4)
  • Intestine(2.3)
  • Liver(2.2)
  • Kidney(2.1)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT17 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • scalp
  • skull
  • tongue
  • tooth
  • vocal cord
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with KRT17: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
 Mammalia KRT17 29 30
  • 99.31 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KRT17 29 30
  • 91.28 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Krt17 29
  • 91.05 (n)
Mouse
(Mus musculus)
 Mammalia Krt17 29 16 30
  • 90.59 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia KRT17 30
  • 89 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KRT17 29 30
  • 88.27 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia KRT17 30
  • 88 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves KRT14 30
  • 69 (a)
 ManyToMany
-- 30
  • 69 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 69 (a)
 ManyToMany
-- 30
  • 69 (a)
 ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100490897 29
  • 70.27 (n)
Zebrafish
(Danio rerio)
 Actinopterygii wu:fb17f05 29
  • 66.13 (n)
-- 29
Species where no ortholog for KRT17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KRT17: view image
Alliance of Genome Resources:
Additional Orthologs for KRT17

Paralogs for KRT17 Gene

Paralogs for KRT17 Gene

(51) SIMAP similar genes for KRT17 Gene using alignment to 4 proteins:

  • K1C17_HUMAN
  • K7ELP7_HUMAN
  • K7EPJ9_HUMAN
  • K7ESE1_HUMAN

Pseudogenes.org Pseudogenes for KRT17 Gene

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

Variants for KRT17 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT17 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1031564 Pathogenic: Pachyonychia congenita 2 41,620,535(-) C/T
NM_000422.3(KRT17):c.1204+1G>A 		SPLICE_DONOR
997575 Pathogenic: Pachyonychia congenita 2 41,622,993(-) G/A
NM_000422.3(KRT17):c.472C>T (p.Gln158Ter) 		NONSENSE
rs115084509 Benign: not provided 41,622,957(-) G/A
NM_000422.3(KRT17):c.508C>T (p.Arg170Cys) 		MISSENSE
rs11553456 Benign: not provided 41,624,462(-) G/C
NM_000422.3(KRT17):c.48C>G (p.Gly16=) 		SYNONYMOUS
rs11553457 Benign: not specified 41,624,515(-) C/G
NM_000422.3(KRT17):c.-6G>C 		FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRT17 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2758690 CNV gain+loss 17122850
esv34903 CNV gain 17911159
esv3640591 CNV gain 21293372
nsv1146669 OTHER inversion 26484159
nsv575040 CNV gain 21841781
nsv827992 CNV gain 20364138
nsv962326 CNV duplication 23825009

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)

Additional Variant Information for KRT17 Gene

Human Gene Mutation Database (HGMD)
KRT17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT17
Leiden Open Variation Database (LOVD)
KRT17

SNP Genotyping and Copy Number Assays for research

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

Disorders for KRT17 Gene

MalaCards: The human disease database

(63) MalaCards diseases for KRT17 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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
  • 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 variants 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 variants affecting the gene represented in this entry.
  • Note=KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris.

Additional Disease Information for KRT17

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

No data available for Genatlas for KRT17 Gene

Publications for KRT17 Gene

  1. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. (PMID: 9008238) Smith FJ … McLean WH (The Journal of investigative dermatology 1997) 3 4 22 72
  2. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. (PMID: 7539673) McLean WH … Higgins C (Nature genetics 1995) 2 3 4 22
  3. Characterization of the human gene encoding cytokeratin 17 and its expression pattern. (PMID: 1281771) Troyanovsky SM … Franke WW (European journal of cell biology 1992) 2 3 4 22
  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 (The British journal of dermatology 2008) 3 4 22
  5. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (PMID: 17719747) Liao H … Smith FJ (Journal of dermatological science 2007) 3 4 22

ExternalLinks

View latest publications for KRT17 gene in Mastermind

Products for KRT17 Gene

Sources for KRT17 Gene