ENSG00000139648


Homo sapiens

Features
Gene ID: ENSG00000139648
  
Biological name :KRT71
  
Synonyms : keratin 71 / KRT71 / Q3SY84
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.13
Gene start: 52543909
Gene end: 52553147
  
Corresponding Affymetrix probe sets: 231461_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000267119
NCBI entrez gene - 112802     See in Manteia.
OMIM - 608245
RefSeq - NM_033448
RefSeq - XM_017018749
RefSeq Peptide - NP_258259
swissprot - Q3SY84
Ensembl - ENSG00000139648
  
Related genetic diseases (OMIM): 615896 - ?Hypotrichosis 13, 615896
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(%)
KRT3 / P12035 / keratin 3ENSG0000018644262
KRT76 / Q01546 / keratin 76ENSG0000018506961
KRT1 / P04264 / keratin 1ENSG0000016776859
KRT5 / P13647 / keratin 5ENSG0000018608159
KRT6C / P48668 / keratin 6CENSG0000017046559
KRT6A / P02538 / keratin 6AENSG0000020542059
KRT6B / P04259 / keratin 6BENSG0000018547959
KRT4 / P19013 / keratin 4ENSG0000017047758
KRT75 / O95678 / keratin 75ENSG0000017045458
KRT79 / Q5XKE5 / keratin 79ENSG0000018564057
KRT7 / P08729 / keratin 7ENSG0000013548050
KRT8 / P05787 / keratin 8ENSG0000017042148


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:0031069 hair follicle morphogenesis IMP
 biological_processGO:0031424 keratinization TAS
 biological_processGO:0045109 intermediate filament organization IMP
 biological_processGO:0070268 cornification TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005882 intermediate filament IEA
 cellular_componentGO:0045095 keratin filament IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 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:0000479 Abnormality of the retina 
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000615 Abnormality of the pupils 
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 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
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 HP:0002213 Fine hair 
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 HP:0002217 Slow-growing hair 
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 HP:0002224 Woolly hair 
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 HP:0002231 Sparse body hair "Sparseness of the body hair." [HPO:probinson]
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 HP:0002299 Fine, brittle hair 
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 HP:0005338 Sparse lateral eyebrows 
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 HP:0005599 Hair hypopigmentation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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