ENSG00000141161


Homo sapiens

Features
Gene ID: ENSG00000141161
  
Biological name :UNC45B
  
Synonyms : Q8IWX7 / UNC45B / unc-45 myosin chaperone B
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q12
Gene start: 35147817
Gene end: 35189345
  
Corresponding Affymetrix probe sets: 235261_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000268876
Ensembl peptide - ENSP00000378071
Ensembl peptide - ENSP00000468335
NCBI entrez gene - 146862     See in Manteia.
OMIM - 611220
RefSeq - XM_017024234
RefSeq - NM_001033576
RefSeq - NM_001267052
RefSeq - NM_001308281
RefSeq - NM_173167
RefSeq Peptide - NP_001253981
RefSeq Peptide - NP_001295210
RefSeq Peptide - NP_775259
RefSeq Peptide - NP_001028748
swissprot - Q8IWX7
Ensembl - ENSG00000141161
  
Related genetic diseases (OMIM): 616279 - ?Cataract 43, 616279
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
 Q6DGE9ENSDARG00000008433Danio rerio
 UNC45BENSGALG00000002186Gallus gallus
 Q8CGY6ENSMUSG00000018845Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9H3U1 / UNC45A / unc-45 myosin chaperone AENSG0000014055356
RPAP3 / Q9H6T3 / RNA polymerase II associated protein 3ENSG0000000517511
SPAG1 / Q07617 / sperm associated antigen 1ENSG0000010445010
O94826 / TOMM70 / translocase of outer mitochondrial membrane 70ENSG000001541749
Q15785 / TOMM34 / translocase of outer mitochondrial membrane 34ENSG000000257727
TTC1 / Q99614 / tetratricopeptide repeat domain 1ENSG000001133126


Protein motifs (from Interpro)
Interpro ID Name
 IPR000225  Armadillo
 IPR011989  Armadillo-like helical
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR013026  Tetratricopeptide repeat-containing domain
 IPR016024  Armadillo-type fold
 IPR019734  Tetratricopeptide repeat
 IPR024660  UNC-45/Cro1/She4, central domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002088 lens development in camera-type eye ISS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007517 muscle organ development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0061077 chaperone-mediated protein folding IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0051879 Hsp90 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


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:0000523 Subcapsular cataracts 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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