ENSG00000171403


Homo sapiens

Features
Gene ID: ENSG00000171403
  
Biological name :KRT9
  
Synonyms : keratin 9 / KRT9 / P35527
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q21.2
Gene start: 41565841
Gene end: 41572058
  
Corresponding Affymetrix probe sets: 208188_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000246662
Ensembl peptide - ENSP00000467932
NCBI entrez gene - 3857     See in Manteia.
OMIM - 607606
RefSeq - NM_000226
RefSeq Peptide - NP_000217
swissprot - P35527
swissprot - K7EQQ3
Ensembl - ENSG00000171403
  
Related genetic diseases (OMIM): 144200 - Palmoplantar keratoderma, epidermolytic, 144200
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Krt9ENSMUSG00000051617Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KRT23 / Q9C075 / keratin 23ENSG0000010824425


Protein motifs (from Interpro)
Interpro ID Name
 IPR001664  Intermediate filament protein
 IPR002957  Keratin, type I
 IPR018039  Intermediate filament protein, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008544 epidermis development TAS
 biological_processGO:0031424 keratinization TAS
 biological_processGO:0043588 skin development IDA
 biological_processGO:0045109 intermediate filament organization IMP
 biological_processGO:0070268 cornification TAS
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005882 intermediate filament IEA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS


Pathways (from Reactome)
Pathway description
Keratinization
Formation of the cornified envelope


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000964 Eczema "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators]
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 HP:0000972 Palmoplantar hyperkeratosis "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot." [HPO:probinson]
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0001231 Abnormality of the fingernails "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson]
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 HP:0003212 Increased IgE level "An abnormally increased level of immunoglobulin E in blood." [HPO:probinson]
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 HP:0007559 Localized epidermolytic hyperkeratosis 
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 HP:0010783 Erythema "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson]
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 HP:0200043 verrucae "Benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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