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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
External Ids for KRT17 Gene
- HGNC: 6427
- Entrez Gene: 3872
- Ensembl: ENSG00000128422
- OMIM: 148069
- UniProtKB: Q04695
Previous HGNC Symbols for KRT17 Gene
- PCHC1
Previous GeneCards Identifiers for KRT17 Gene
- GC17M039265
- GC17M041891
- GC17M039545
- GC17M040148
- GC17M037029
- GC17M039775
- GC17M035538
Summaries 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 Relaxin signaling pathway. 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.
Additional gene information for KRT17 Gene
- HGNC(6427)
- Entrez Gene(3872)
- Ensembl(ENSG00000128422)
- OMIM(148069)
- UniProtKB(Q04695)
- Open Targets Platform(ENSG00000128422)
- Monarch Initiative
- Search for KRT17 at DataMed
- Search for KRT17 at HumanCyc
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
Promoters and enhancers for KRT17 Gene
- 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
Genomic Locations for KRT17 Gene
- chr17:41,619,442-41,624,842
- (GRCh38/hg38)
- Size:
- 5,401 bases
- Orientation:
- Minus strand
- chr17:39,775,689-39,781,094
- (GRCh37/hg19)
- 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:
-
- 17q21.2 by HGNC
- 17q21.2 by Entrez Gene
- 17q21.2 by Ensembl
KRT17 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for KRT17 Gene
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
- NX_Q04695 (NX_Q04695-1)
- Modification sites at PhosphoSitePlus
Other Protein References for KRT17 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- RayBiotech Rabbit anti-KRT17 antibody
- NSJ Bioreagents Cytokeratin 17 Antibody (Mouse Monoclonal)
-
HUABIO
- Recombinant Cytokeratin 17 Monoclonal Antibody (ET1602-16)
- Cytokeratin 17 Antibody (ER1901-01)
- Cytokeratin 17 Antibody (ER1803-94)
- Cytokeratin 17 Monoclonal Antibody (EM1901-29)
- Cytokeratin 17 Monoclonal Antibody (EM1901-30)
- Cytokeratin 17 Antibody (ER1901-18)
- Cytokeratin 17 Monoclonal Antibody (EM1901-28)
- Cytokeratin 17 Monoclonal Antibody (M0407-13)
- Cytokeratin 17 Antibody (0407-4)
-
Custom Antibody ServicesOriGene Antibodies for KRT17
- Novus Biologicals Antibodies for KRT17
-
Abcam antibodies for KRT17
- Invitrogen Antibodies for KRT17 (AFLGC-KRT17)
-
Santa Cruz Biotechnology (SCBT) Antibodies for KRT17
- Sino Biological Antibodies for KRT17
Protein Products
- RayBiotech Recombinant Human cytokeratin-17
-
OriGene Purified Proteins for KRT17
- Search Origene for MassSpec and Protein Over-expression Lysates for KRT17
- Origene Custom Protein Services for KRT17
- ProSpec Recombinant Proteins for KRT17
- antibodies-online: Show 12 available KRT17 Proteins ranked by validation data
- Compare Top KRT17 Proteins
-
Quality Products:
-
Abcam proteins for KRT17
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
- ProtoNet:
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- Family:
-
- Belongs to the intermediate filament family.
Function for KRT17 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005198 | structural molecule activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for KRT17 Gene
- MGI mutant phenotypes for KRT17:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for KRT17:
Animal Models for KRT17 Gene
- MGI Knock Outs for KRT17:
-
- Krt17 Krt17<tm1Cou>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KRT17 - Select products 50% OFF >
- * KRT17 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KRT17
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KRT17
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRT17
miRNA for KRT17 Gene
- miRTarBase miRNAs that target KRT17
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KRT17
- Browse OriGene Inhibitory RNA Products For KRT17
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT17
Clone Products
- Applied Biological Materials (abm): Clones for KRT17 - Select products 50% OFF >
- * KRT17 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for KRT17
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRT17
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Intermediate filaments (4)
| 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 | -- |
Pathways & Interactions for KRT17 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytoskeletal Signaling | ||
| 2 | Relaxin signaling pathway | ||
| 3 | Staphylococcus aureus infection | ||
| 4 | Developmental Biology | ||
| 5 | Keratinization |
.33
|
|
Pathways by source for KRT17 Gene
1 BioSystems pathway for KRT17 Gene
2 Reactome pathways for KRT17 Gene
2 KEGG pathways for KRT17 Gene
1 GeneGo (Thomson Reuters) pathway for KRT17 Gene
- Cytoskeleton remodeling Keratin filaments
1 Cell Signaling Technology pathway for KRT17 Gene
Interacting Proteins for KRT17 Gene
Selected Interacting proteins:
Q04695-K1C17_HUMAN
ENSP00000308452
for KRT17 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KRT17
| 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 | -- |
Drugs & Compounds for KRT17 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- RayBiotech Recombinant Human cytokeratin-17
Transcripts for KRT17 Gene
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 :
-
- ENST00000311208 1517 nts (view in UCSC)
- ENST00000463128 697 nts (view in UCSC)
- ENST00000491673 658 nts (view in UCSC)
- ENST00000493253 1834 nts (view in UCSC)
- ENST00000540235 1438 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KRT17 - Select products 50% OFF >
- * KRT17 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KRT17
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KRT17
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRT17
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KRT17
- Browse OriGene Inhibitory RNA Products For KRT17
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT17
Clone Products
- Applied Biological Materials (abm): Clones for KRT17 - Select products 50% OFF >
- * KRT17 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for KRT17
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRT17
Relevant External Links for KRT17 Gene
- GeneLoc Exon Structure for
- KRT17
Expression for KRT17 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
- Basal Cells Trachea
- Dental Placode Cells Dental Placode
- Basal Cells Respiratory Bronchioles
- Fetal Medulla Cells Hair Shaft
- Cartilage (Muscoskeletal System)
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
- Bulge Stem Cells Bulge
- Fetal Medulla Cells Hair Shaft
- Primary Hair Placode Cells Hair Follicle
- human epithelial stem cells(Yang R et. al. 2014)
-
Lung (Respiratory System)
- Basal Cells Trachea
- Basal Cells Respiratory Bronchioles
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
-
Testis (Reproductive System)
- Sertoli cells Seminiferous Tubules
- Esophagus
- Epidermis (Integumentary System)
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).
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.2785mRNA 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(3)
- Blood(2.5)
- Intestine(2.4)
- Liver(2.3)
- Kidney(2.2)
- Heart(2.2)
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
Primer Products
-
OriGene qPCR primer pairs for KRT17
-
OriGene qPCR primer pairs and template standards for KRT17
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KRT17 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KRT17 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Krt17 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Krt17 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KRT17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KRT17 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | KRT17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | KRT14 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100490897 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | wu:fb17f05 30 |
|
||
| -- 30 |
|
- 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
Paralogs for KRT17 Gene
Paralogs for KRT17 Gene
- KRT14 5
- KRT16 5
- KRT15 5
- KRT10 5
- KRT13 5
- KRT19 5
- KRT24 5
- KRT12 5
- KRT36 5
- KRT27 5
- KRT28 5
- KRT25 5
- KRT35 5
- KRT26 5
- KRT20 5
- KRT9 5
- KRT39 5
- KRT33A 5
- KRT33B 5
- KRT31 5
- KRT32 5
- KRT34 5
- KRT18 5
- KRT40 5
- KRT38 5
- KRT37 5
- KRT23 5
- GFAP 5
- DES 5
- VIM 5
- NES 5
- NEFL 5
- KRT8 5
- LMNA 5
- KRT85 5
- KRT84 5
- KRT75 5
- PRPH 5
- INA 5
- NEFM 5
- KRT76 5
- KRT81 5
- KRT83 5
- KRT82 5
- KRT6C 5
- KRT6A 5
- KRT5 5
- KRT73 5
- KRT1 5
- LMNB1 5
- KRT3 5
- KRT4 5
- KRT79 5
- KRT80 5
- KRT7 5
- KRT86 5
- KRT6B 5
- KRT71 5
- KRT72 5
- KRT2 5
- BFSP2 5
- KRT74 5
- KRT77 5
- LMNB2 5
- SYNM 5
- KRT78 5
- LMNTD1 5
- ENSG00000264058 5
- KRT222 5
(51) SIMAP similar genes for KRT17 Gene using alignment to 4 proteins:
- K1C17_HUMAN
- K7ELP7_HUMAN
- K7EPJ9_HUMAN
- K7ESE1_HUMAN
- keratin
- GUCA1B
- KRT16
- KRT15
- K14
- JUP
- KRT19
- KRT32
- KRT14
- KRT9
- KRT33B
- KRT13
- KRT31
- KRT10
- KRT20
- KRT34
- KRT39
- KRT27
- KRTHA7
- KRT23
- KRT12
- KRT38
- KRT28
- KRT37
- KRT35
- KRT26
- KRT24
- KRT18
- KRT7
- KRT25
- KRT40
- KRT36
- KRT33A
- PRPH
- NEFL
- KRT5
- FLJ40504
- GFAP
- VIM
- DES
- NEFM
- BFSP2
- INA
- KRT1
- tmp_locus_29
- KRT4
- KRT83
- KRT75
- KRT6C
- KRT81
- KRT76
Pseudogenes.org Pseudogenes for KRT17 Gene
Variants for KRT17 Gene
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 |
|---|---|---|---|---|---|
| 712854 | Benign: not provided | 41,622,361(-) | G/A | SYNONYMOUS_VARIANT | |
| 713212 | Benign: not provided | 41,624,191(-) | C/T | MISSENSE_VARIANT | |
| 713582 | Likely Benign: not provided | 41,622,459(-) | G/A | SYNONYMOUS_VARIANT | |
| 719519 | Benign: not provided | 41,621,023(-) | C/T | SYNONYMOUS_VARIANT | |
| 720512 | Likely Benign: not provided | 41,624,372(-) | G/A | SYNONYMOUS_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT17 Gene
Disorders for KRT17 Gene
(63) MalaCards diseases for KRT17 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| steatocystoma multiplex |
|
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| pachyonychia congenita 2 |
|
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| pachyonychia congenita 1 |
|
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| nail disorder, nonsyndromic congenital, 4 |
|
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| keratoacanthoma |
|
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 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.
- 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
No data available for Genatlas for KRT17 Gene
Publications for KRT17 Gene
- Keratin 16 and keratin 17 mutations cause pachyonychia congenita. (PMID: 7539673) McLean WH … Higgins C (Nature genetics 1995) 2 3 4 23
- 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 23
- 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 23
- 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 23
- HLA DR B1*04, *07-restricted epitopes on Keratin 17 for autoreactive T cells in psoriasis. (PMID: 15795121) Shen Z … Liu YF (Journal of dermatological science 2005) 3 4 23
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Products for KRT17 Gene
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Sources for KRT17 Gene
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