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Aliases for KRT9 Gene

Aliases for KRT9 Gene

  • Keratin 9, Type I 2 3
  • Type I Cytoskeletal 9 2 3
  • Cytokeratin 9 2 3
  • Cytokeratin-9 3 4
  • Keratin-9 3 4
  • EPPK 3 6
  • CK-9 3 4
  • K9 3 4
  • Epidermolytic Palmoplantar Keratoderma 2
  • Keratin, Type I Cytoskeletal 9 3
  • Keratin 9 2

External Ids for KRT9 Gene

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, Type I) is a Protein Coding gene. Diseases associated with KRT9 include palmoplantar keratoderma, epidermolytic and acral lentiginous melanoma. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is KRT34.

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:

No data available for DME Specific Peptides for KRT9 Gene

Domains for KRT9 Gene

Gene Families for KRT9 Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

Protein Domains for KRT9 Gene

UniProtKB/Swiss-Prot:

K1C9_HUMAN
Family:
  • Belongs to the intermediate filament family.:
    • P35527
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:0005198 structural molecule activity --
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

Animal Models for KRT9 Gene

MGI Knock Outs for KRT9:
  • Krt9 tm1(KOMP)Vlcg

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
cytoskeleton 3
cytosol 3
nucleus 3
golgi apparatus 1
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:0005882 intermediate filament IEA --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 11487543
genes like me logo Genes that share ontologies with KRT9: view

Pathways 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:0007283 spermatogenesis IEA --
GO:0008544 epidermis development TAS 8647270
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 Pathways by source for KRT9 Gene

Compounds for KRT9 Gene

(5) Novoseek inferred chemical compound relationships for KRT9 Gene

Compound -log(P) Hits PubMed IDs
arginine 43.6 6
leucine 27.9 3
histidine 7.74 2
polyacrylamide 5.82 1
glutamine 4.32 1
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (17.0), Skin - Not Sun Exposed (Suprapubic) (12.6), and Esophagus - Mucosa (5.8).

Integrated Proteomics: protein expression 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 expressions with KRT9: view

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 36
  • 99.57 (n)
  • 99.68 (a)
KRT9 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KRT9 37
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT9 37
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt9 16
Krt9 37
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KRT9 37
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KRT9 37
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves KRT9 37
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 43 (a)
OneToMany
-- 37
  • 42 (a)
OneToMany
-- 37
  • 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 MAF
rs1008753 -- 41,567,795(+) CCCCA(C/T)ACACA intron-variant
rs1010593 -- 41,570,801(-) CCTCA(A/G)GGTTG intron-variant
rs1010594 -- 41,570,766(-) TAGAC(C/T)TAGTT intron-variant
rs1968728 -- 41,573,448(-) TTGGG(A/G)AGCAT upstream-variant-2KB
rs3078623 -- 41,568,956(+) acaca(-/CACA/CACACACA)gcaca intron-variant

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

Relevant External Links for KRT9 Gene

HapMap Linkage Disequilibrium report
KRT9
Human Gene Mutation Database (HGMD)
KRT9

Disorders for KRT9 Gene

(1) OMIM Diseases for KRT9 Gene (607606)

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.

(9) Novoseek inferred disease relationships for KRT9 Gene

Disease -log(P) Hits PubMed IDs
palmoplantar keratoderma, epidermolytic 98.6 21
keratoderma palmoplantar 89.5 4
knuckle pads 89.3 2
neppk 85.8 2
hyperkeratosis 82.3 3
genes like me logo Genes that share disorders with KRT9: view

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
  2. Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. (PMID: 7516304) Hennies H.-C. … Reis A. (Hum. Genet. 1994) 3 4 23
  3. Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. (PMID: 7523529) Bonifas J.M. … Epstein E.H. Jr. (J. Invest. Dermatol. 1994) 3 4 23
  4. Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. (PMID: 7511021) Torchard D. … Feunteun J. (Nat. Genet. 1994) 3 4 23
  5. Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. (PMID: 7532199) Rothnagel J.A. … Roop D.R. (J. Invest. Dermatol. 1995) 3 4 23

Products for KRT9 Gene

Sources for KRT9 Gene

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