ENSG00000186442


Homo sapiens

Features
Gene ID: ENSG00000186442
  
Biological name :KRT3
  
Synonyms : keratin 3 / KRT3 / P12035
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.13
Gene start: 52789685
Gene end: 52796117
  
Corresponding Affymetrix probe sets: 217325_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000413479
NCBI entrez gene - 3850     See in Manteia.
OMIM - 148043
RefSeq - NM_057088
RefSeq Peptide - NP_476429
swissprot - P12035
Ensembl - ENSG00000186442
  
Related genetic diseases (OMIM): 122100 - Meesmann corneal dystrophy, 122100
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
 krt4ENSDARG00000017624Danio rerio
 krt5ENSDARG00000058371Danio rerio
 krt8ENSDARG00000058358Danio rerio
 zgc:158846ENSDARG00000058462Danio rerio


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KRT76 / Q01546 / keratin 76ENSG0000018506977
KRT1 / P04264 / keratin 1ENSG0000016776862
KRT5 / P13647 / keratin 5ENSG0000018608161
KRT6A / P02538 / keratin 6AENSG0000020542060
KRT6B / P04259 / keratin 6BENSG0000018547960
KRT6C / P48668 / keratin 6CENSG0000017046559
KRT4 / P19013 / keratin 4ENSG0000017047757
KRT79 / Q5XKE5 / keratin 79ENSG0000018564055
KRT75 / O95678 / keratin 75ENSG0000017045455
KRT71 / Q3SY84 / keratin 71ENSG0000013964852
KRT8 / P05787 / keratin 8ENSG0000017042146
KRT7 / P08729 / keratin 7ENSG0000013548045


Protein motifs (from Interpro)
Interpro ID Name
 IPR001664  Intermediate filament protein
 IPR003054  Keratin, type II
 IPR018039  Intermediate filament protein, conserved site
 IPR032444  Keratin type II head


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0030855 epithelial cell differentiation ISS
 biological_processGO:0031424 keratinization TAS
 biological_processGO:0045104 intermediate filament cytoskeleton organization IMP
 biological_processGO:0070268 cornification TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005882 intermediate filament NAS
 cellular_componentGO:0045095 keratin filament TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005198 structural molecule activity IMP


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:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0001131 Corneal dystrophy 
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 HP:0003680 Nonprogressive disorder 
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 HP:0007663 Decreased central vision 
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 HP:0007856 Fine punctate corneal opacities 
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 HP:0009926 Increased tear production "Abnormally in creased lacrimation." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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