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Aliases for KRT9 Gene

Aliases for KRT9 Gene

  • Keratin 9 2 3
  • Keratin 9, Type I 2 3 5
  • Type I Cytoskeletal 9 2 3
  • Cytokeratin 9 2 3
  • Cytokeratin-9 3 4
  • Keratin-9 3 4
  • CK-9 3 4
  • K9 3 4
  • Epidermolytic Palmoplantar Keratoderma 2
  • 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, nonepidermolytic. GO annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is KRT12.

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

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

Genomics for KRT9 Gene

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

Proteomics data for KRT9 Gene at MOPED

Post-translational modifications for KRT9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for KRT9 Gene

Domains & Families for KRT9 Gene

Gene Families for KRT9 Gene

Protein Domains for KRT9 Gene

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRT9 Gene

Localization for KRT9 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT9 Gene COMPARTMENTS Subcellular localization image for KRT9 gene
Compartment Confidence
extracellular 5
nucleus 5
cytoskeleton 4
cytosol 3
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:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRT9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT9 Gene

Pathways & Interactions for KRT9 Gene

SuperPathways for KRT9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KRT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development TAS 8647270
GO:0043588 skin development IDA 7507869
genes like me logo Genes that share ontologies with KRT9: view

No data available for Pathways by source and SIGNOR curated interactions for KRT9 Gene

Drugs & Compounds for KRT9 Gene

(4) Drugs for KRT9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(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 :

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 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



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.
genes like me logo Genes that share expression patterns with KRT9: view

Protein tissue co-expression partners for KRT9 Gene

Primer Products

In Situ Assay 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 35
  • 99.57 (n)
  • 99.68 (a)
KRT9 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KRT9 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT9 36
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KRT9 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KRT9 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt9 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves KRT9 36
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 43 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
Species with no ortholog for KRT9:
  • 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

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
rs57536312 Keratoderma, palmoplantar, epidermolytic (EPPK) 41,571,510(-) CTCAA(A/T)TCTCG reference, missense
rs57758262 Keratoderma, palmoplantar, epidermolytic (EPPK) 41,571,505(-) TTCTC(A/C/G)GCTGG reference, missense
rs59616921 Keratoderma, palmoplantar, epidermolytic (EPPK) 41,571,506(-) ATTCT(C/T)GGCTG reference, missense
rs61157095 Keratoderma, palmoplantar, epidermolytic (EPPK) 41,571,490(-) TTACT(C/T)GGATA reference, missense
rs59510579 Keratoderma, palmoplantar, epidermolytic (EPPK) 41,571,523(-) CACCA(A/C/G/T)GCAGG reference, missense

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

Variant ID Type Subtype PubMed ID
dgv961e1 CNV Complex 17122850
dgv962e1 CNV Complex 17122850
nsv510711 CNV Loss 20534489
nsv9555 CNV Gain 18304495
nsv827992 CNV Gain 20364138
esv34903 CNV Gain 17911159
nsv2053 CNV Insertion 18451855

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

HapMap Linkage Disequilibrium report
KRT9
Human Gene Mutation Database (HGMD)
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: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
palmoplantar keratoderma, epidermolytic
  • palmoplantar keratoderma, nonepidermolytic
palmoplantar keratoderma, nonepidermolytic
  • nonepidermolytic palmoplantar keratoderma
keratosis palmoplantaris striata iii
  • keratosis palmoplantaris striata 3
ichthyosis histrix, curth-macklin type
  • ichthyosis hystrix, curth macklin type
epidermolytic hyperkeratosis
  • bullous congenital ichthyosiform erythroderma
- 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. … Kuester W. (Nat. Genet. 1994) 2 3 4 23 67
  2. Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. (PMID: 17362238) Li M. … Dai X.Y. (Clin. Exp. Dermatol. 2009) 3 23
  3. Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. (PMID: 19106041) Codispoti A. … Terrinoni A. (Eur J Dermatol 2009) 3 23
  4. Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma. (PMID: 18477167) Zhao J.J. … Zheng Z.Z. (Int. J. Dermatol. 2008) 3 23
  5. Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma. (PMID: 18573708) Feng W. … Li J. (Eur J Dermatol 2008) 3 23

Products for KRT9 Gene

Sources for KRT9 Gene

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