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Aliases for KRT9 Gene

Aliases for KRT9 Gene

  • Keratin 9 2 3 5
  • Type I Cytoskeletal 9 2 3
  • Keratin 9, Type I 2 3
  • Cytokeratin 9 2 3
  • CK-9 3 4
  • K9 3 4
  • Epidermolytic Palmoplantar Keratoderma 2
  • Keratin, Type I Cytoskeletal 9 3
  • Cytokeratin-9 4
  • Keratin-9 4
  • EPPK 3

External Ids for KRT9 Gene

Previous GeneCards Identifiers for KRT9 Gene

  • GC17M038843
  • GC17P041832
  • GC17M039630
  • GC17M040095
  • GC17M036975
  • GC17M039722
  • GC17M035485

Summaries for KRT9 Gene

Entrez Gene Summary for KRT9 Gene

  • This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT9 Gene

KRT9 (Keratin 9) is a Protein Coding gene. Diseases associated with KRT9 include Palmoplantar Keratoderma, Epidermolytic and Palmoplantar Keratoderma, Bothnian Type. Among its related pathways are Keratinization and Developmental Biology. GO annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is KRT20.

UniProtKB/Swiss-Prot for KRT9 Gene

  • May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly.

Gene Wiki entry for KRT9 Gene

Additional gene information for KRT9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT9 Gene

Genomics for KRT9 Gene

Regulatory Elements for KRT9 Gene

Enhancers for KRT9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H041620 1.3 FANTOM5 ENCODE 16.6 -52.1 -52140 6 TBP PKNOX1 NFIB KLF17 BRCA1 GLIS2 ZNF366 RCOR1 KLF7 EGR2 KRT9 KRT15 KRT14 KRT19 KRT40 ENSG00000234477 KRT37 KRT16 KRT36 JUP
GH17H041506 1.2 FANTOM5 ENCODE dbSUPER 10.2 +65.5 65489 0 ZNF687 FOXA2 TEAD1 MNT ELF1 GABPA TEAD3 FOXA1 SREBF1 TARDBP KRT9 KRT36 KRTAP3-1 JUP KRT19 KRT13 MIR6510
GH17H041578 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.7 -12.1 -12136 10 TBP PKNOX1 NFIB RAD21 ZNF143 ATF7 CREM EGR2 ZNF654 SP3 KRT16 JUP KRT36 KRT9 KRT14 KRT15 KRT17 KRT13 KRT19
GH17H041629 0.6 dbSUPER 11.2 -58.4 -58352 0 FOSL1 TCF12 SMARCE1 ID3 EBF1 ZIC2 KRT14 KRT9 KRT40 KRT37 KRT17 KRT42P
GH17H041631 0.4 dbSUPER 11.2 -59.6 -59584 1 EBF1 ZIC2 KRT14 KRT9 KRT40 KRT37 KRT17 KRT42P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRT9 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT9 Gene

Chromosome:
17
Start:
41,565,841 bp from pter
End:
41,572,058 bp from pter
Size:
6,218 bases
Orientation:
Minus strand

Genomic View for KRT9 Gene

Genes around KRT9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT9 Gene

Proteins for KRT9 Gene

  • Protein details for KRT9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35527-K1C9_HUMAN
    Recommended name:
    Keratin, type I cytoskeletal 9
    Protein Accession:
    P35527
    Secondary Accessions:
    • O00109
    • Q0IJ47
    • Q14665

    Protein attributes for KRT9 Gene

    Size:
    623 amino acids
    Molecular mass:
    62064 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins.
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

neXtProt entry for KRT9 Gene

Post-translational modifications for KRT9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT9 Gene

Domains & Families for KRT9 Gene

Gene Families for KRT9 Gene

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

Suggested Antigen Peptide Sequences for KRT9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35527

UniProtKB/Swiss-Prot:

K1C9_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT9: view

Function for KRT9 Gene

Molecular function for KRT9 Gene

GENATLAS Biochemistry:
keratin 9,type I,palm and sole skin,dimerizing either with KRT1 or KRT10
UniProtKB/Swiss-Prot Function:
May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly.
UniProtKB/Swiss-Prot Induction:
Induced by intrinsic regulatory mechanisms and by extrinsic signals from a subset of dermal palmoplantar fibroblasts.

Gene Ontology (GO) - Molecular Function for KRT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 8647270
genes like me logo Genes that share ontologies with KRT9: view
genes like me logo Genes that share phenotypes with KRT9: view

Human Phenotype Ontology for KRT9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KRT9
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRT9 Gene

Localization for KRT9 Gene

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 KRT9 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 4
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KRT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005634 nucleus IDA 21630459
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with KRT9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT9 Gene

Pathways & Interactions for KRT9 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT9: view

Pathways by source for KRT9 Gene

2 Reactome pathways for KRT9 Gene

Gene Ontology (GO) - Biological Process for KRT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0008544 epidermis development TAS 8647270
GO:0031424 keratinization TAS --
GO:0043588 skin development IDA 7507869
GO:0045109 intermediate filament organization IMP 10218578
genes like me logo Genes that share ontologies with KRT9: view

No data available for SIGNOR curated interactions for KRT9 Gene

Drugs & Compounds for KRT9 Gene

(6) Drugs for KRT9 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Target 188
Zinc Approved Pharma Target 2359

(1) Additional Compounds for KRT9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT9: view

Transcripts for KRT9 Gene

mRNA/cDNA for KRT9 Gene

(1) REFSEQ mRNAs :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KRT9
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KRT9 Gene

No ASD Table

Relevant External Links for KRT9 Gene

GeneLoc Exon Structure for
KRT9
ECgene alternative splicing isoforms for
KRT9

Expression for KRT9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRT9 Gene

mRNA differential expression in normal tissues according to GTEx for KRT9 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x17.0), Skin - Not Sun Exposed (Suprapubic) (x12.6), and Esophagus - Mucosa (x5.8).

Protein differential expression in normal tissues from HIPED for KRT9 Gene

This gene is overexpressed in Cerebrospinal fluid (15.0), Pancreatic juice (8.4), Bone marrow mesenchymal stem cell (6.6), and Brain (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT9 Gene



Protein tissue co-expression partners for KRT9 Gene

NURSA nuclear receptor signaling pathways regulating expression of KRT9 Gene:

KRT9

SOURCE GeneReport for Unigene cluster for KRT9 Gene:

Hs.654569

mRNA Expression by UniProt/SwissProt for KRT9 Gene:

P35527-K1C9_HUMAN
Tissue specificity: Expressed in the terminally differentiated epidermis of palms and soles.

Evidence on tissue expression from TISSUES for KRT9 Gene

  • Liver(4.4)
  • Skin(2.3)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT9 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
Organs:
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with KRT9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KRT9 Gene

Orthologs for KRT9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT9 33 34
  • 99.57 (n)
cow
(Bos Taurus)
Mammalia KRT9 34
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT9 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KRT9 34
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KRT9 34
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt9 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves KRT9 34
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 46 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
-- 34
  • 42 (a)
OneToMany
Species where no ortholog for KRT9 was found in the sources mined by GeneCards:
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRT9 Gene

ENSEMBL:
Gene Tree for KRT9 (if available)
TreeFam:
Gene Tree for KRT9 (if available)

Paralogs for KRT9 Gene

Paralogs for KRT9 Gene

genes like me logo Genes that share paralogs with KRT9: view

Variants for KRT9 Gene

Sequence variations from dbSNP and Humsavar for KRT9 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs267607420 untested, Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] 41,568,196(-) AGACC(C/T)ACCAC reference, missense
rs28940896 Pathogenic, Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200], Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] 41,571,515(-) AGGAA(C/G/T)TCAAT reference, missense
rs56707768 Pathogenic, Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200], Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] 41,571,511(-) ACTCA(A/G/T)TTCTC reference, missense
rs57019720 Pathogenic, Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] 41,571,482(-) ATAAG(A/G)TGCAG reference, missense
rs57536312 Pathogenic, Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] 41,571,510(-) CTCAA(A/T)TCTCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KRT9 Gene

Variant ID Type Subtype PubMed ID
esv2758690 CNV gain+loss 17122850
esv34903 CNV gain 17911159
esv3640588 CNV gain 21293372
esv3640590 CNV gain 21293372
nsv1063389 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
nsv2053 CNV insertion 18451855
nsv510711 CNV deletion 20534489
nsv827992 CNV gain 20364138
nsv9555 CNV gain 18304495

Variation tolerance for KRT9 Gene

Residual Variation Intolerance Score: 47.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT9 Gene

Human Gene Mutation Database (HGMD)
KRT9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT9 Gene

Disorders for KRT9 Gene

MalaCards: The human disease database

(17) MalaCards diseases for KRT9 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
palmoplantar keratoderma, epidermolytic
  • palmoplantar keratoderma, nonepidermolytic
palmoplantar keratoderma, bothnian type
  • palmoplantar keratoderma, nonepidermolytic
amebiasis
  • amoebiasis
palmoplantar keratosis
  • keratosis palmaris et plantaris
epidermolytic acanthoma
- elite association - COSMIC cancer census association via MalaCards
Search KRT9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K1C9_HUMAN
  • Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]: A dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. {ECO:0000269 PubMed:10632938, ECO:0000269 PubMed:10844507, ECO:0000269 PubMed:12072061, ECO:0000269 PubMed:12192490, ECO:0000269 PubMed:12838553, ECO:0000269 PubMed:12926810, ECO:0000269 PubMed:14675368, ECO:0000269 PubMed:15099359, ECO:0000269 PubMed:15115518, ECO:0000269 PubMed:15605275, ECO:0000269 PubMed:16911293, ECO:0000269 PubMed:16961539, ECO:0000269 PubMed:19874353, ECO:0000269 PubMed:20964665, ECO:0000269 PubMed:21715251, ECO:0000269 PubMed:7511021, ECO:0000269 PubMed:7512862, ECO:0000269 PubMed:7516304, ECO:0000269 PubMed:7523529, ECO:0000269 PubMed:7532199, ECO:0000269 PubMed:8647270, ECO:0000269 PubMed:9204965, ECO:0000269 PubMed:9856842}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KRT9

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRT9
genes like me logo Genes that share disorders with KRT9: view

No data available for Genatlas for KRT9 Gene

Publications for KRT9 Gene

  1. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). (PMID: 7512862) Reis A … Sperling K (Nature genetics 1994) 2 3 4 22 60
  2. Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma. (PMID: 14675368) Lee JH … Yang JM (Experimental dermatology 2003) 3 4 22 60
  3. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. (PMID: 9856842) Covello SP … McLean WH (The Journal of investigative dermatology 1998) 3 4 22 60
  4. A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. (PMID: 9204965) Endo H … Shinkai H (The Journal of investigative dermatology 1997) 3 4 22 60
  5. Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. (PMID: 8647270) Kobayashi S … Imamura S (FEBS letters 1996) 3 4 22 60

Products for KRT9 Gene

Sources for KRT9 Gene

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