ENSG00000170477


Homo sapiens

Features
Gene ID: ENSG00000170477
  
Biological name :KRT4
  
Synonyms : keratin 4 / KRT4 / P19013
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.13
Gene start: 52806549
Gene end: 52814551
  
Corresponding Affymetrix probe sets: 213240_s_at (Human Genome U133 Plus 2.0 Array)   214399_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000448220
Ensembl peptide - ENSP00000449755
Ensembl peptide - ENSP00000447320
NCBI entrez gene - 3851     See in Manteia.
OMIM - 123940
RefSeq - NM_002272
RefSeq Peptide - NP_002263
swissprot - P19013
swissprot - F8VX05
swissprot - F8VZR6
Ensembl - ENSG00000170477
  
Related genetic diseases (OMIM): 193900 - White sponge nevus 1, 193900
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
 Krt4ENSMUSG00000059668Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KRT3 / P12035 / keratin 3ENSG0000018644269
KRT76 / Q01546 / keratin 76ENSG0000018506967
KRT5 / P13647 / keratin 5ENSG0000018608165
KRT6A / P02538 / keratin 6AENSG0000020542063
KRT1 / P04264 / keratin 1ENSG0000016776863
KRT6B / P04259 / keratin 6BENSG0000018547963
KRT6C / P48668 / keratin 6CENSG0000017046562
KRT79 / Q5XKE5 / keratin 79ENSG0000018564061
KRT75 / O95678 / keratin 75ENSG0000017045461
KRT71 / Q3SY84 / keratin 71ENSG0000013964858
KRT7 / P08729 / keratin 7ENSG0000013548051
KRT8 / P05787 / keratin 8ENSG0000017042150


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:0007010 cytoskeleton organization NAS
 biological_processGO:0030855 epithelial cell differentiation IEA
 biological_processGO:0031424 keratinization TAS
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IEA
 biological_processGO:0070268 cornification TAS
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005882 intermediate filament IEA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0045095 keratin filament IDA
 cellular_componentGO:0045111 intermediate filament cytoskeleton IDA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005515 protein binding IPI


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:0001939 Metabolism abnormality 
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 HP:0002745 Oral leukoplakia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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