ENSG00000110060


Homo sapiens

Features
Gene ID: ENSG00000110060
  
Biological name :PUS3
  
Synonyms : pseudouridylate synthase 3 / PUS3 / Q9BZE2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q24.2
Gene start: 125893485
Gene end: 125903221
  
Corresponding Affymetrix probe sets: 221277_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000432272
Ensembl peptide - ENSP00000481536
Ensembl peptide - ENSP00000437077
Ensembl peptide - ENSP00000432386
Ensembl peptide - ENSP00000227474
NCBI entrez gene - 83480     See in Manteia.
OMIM - 616283
RefSeq - NM_031307
RefSeq - XM_005271688
RefSeq - XM_005271687
RefSeq - NM_001271985
RefSeq Peptide - NP_001258914
RefSeq Peptide - NP_112597
swissprot - E9PNY6
swissprot - Q9BZE2
swissprot - A0A087WY59
swissprot - E9PRI9
Ensembl - ENSG00000110060
  
Related genetic diseases (OMIM): 617051 - ?Mental retardation, autosomal recessive 55, 617051
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
 pus3ENSDARG00000028976Danio rerio
 PUS3ENSGALG00000000962Gallus gallus
 Pus3ENSMUSG00000032103Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001406  Pseudouridine synthase I, TruA
 IPR020095  Pseudouridine synthase I, TruA, C-terminal
 IPR020097  Pseudouridine synthase I, TruA, alpha/beta domain
 IPR020103  Pseudouridine synthase, catalytic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001522 pseudouridine synthesis IEA
 biological_processGO:0006400 tRNA modification TAS
 biological_processGO:0008033 tRNA processing IEA
 biological_processGO:0009451 RNA modification IEA
 biological_processGO:0031119 tRNA pseudouridine synthesis IMP
 biological_processGO:1990481 mRNA pseudouridine synthesis IBA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0009982 pseudouridine synthase activity IEA
 molecular_functionGO:0016853 isomerase activity IEA


Pathways (from Reactome)
Pathway description
tRNA modification in the nucleus and cytosol


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000280 Coarse facial features 
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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:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0002059 Cerebral atrophy 
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 HP:0002119 Ventriculomegaly 
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 HP:0002187 Mental retardation, profound "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0100702 Arachnoid cyst "Arachnoid cysts are filled with cerebrospinal fluid encased by arachnoidal cells." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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