ENSG00000100024


Homo sapiens

Features
Gene ID: ENSG00000100024
  
Biological name :UPB1
  
Synonyms : beta-ureidopropionase 1 / Q9UBR1 / UPB1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q11.23
Gene start: 24494107
Gene end: 24528390
  
Corresponding Affymetrix probe sets: 220507_s_at (Human Genome U133 Plus 2.0 Array)   224042_at (Human Genome U133 Plus 2.0 Array)   224043_s_at (Human Genome U133 Plus 2.0 Array)   228219_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000400684
Ensembl peptide - ENSP00000324343
Ensembl peptide - ENSP00000372208
NCBI entrez gene - 51733     See in Manteia.
OMIM - 606673
RefSeq - XM_017028827
RefSeq - XM_011530223
RefSeq - XM_011530224
RefSeq - XM_011530225
RefSeq - XM_017028825
RefSeq - XM_017028826
RefSeq - NM_016327
RefSeq - XM_011530222
RefSeq Peptide - NP_057411
swissprot - F8WC94
swissprot - A0A024R1H3
swissprot - Q6AHZ8
swissprot - Q9UBR1
Ensembl - ENSG00000100024
  
Related genetic diseases (OMIM): 613161 - Beta-ureidopropionase deficiency, 613161
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
 upb1ENSDARG00000011521Danio rerio
 UPB1ENSGALG00000006627Gallus gallus
 Upb1ENSMUSG00000033427Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR003010  Carbon-nitrogen hydrolase
 IPR036526  Carbon-nitrogen hydrolase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006807 nitrogen compound metabolic process IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0019483 beta-alanine biosynthetic process IEA
 biological_processGO:0046135 pyrimidine nucleoside catabolic process TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003837 beta-ureidopropionase activity EXP
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Pyrimidine catabolism


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:0000048 Bifid scrotum "Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis." [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:0001249 Mental retardation 
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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:0001319 Neonatal hypotonia "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators]
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0002023 Anal atresia "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators]
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 HP:0002133 Status epilepticus 
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 HP:0002167 Neurological speech impairment 
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 HP:0002188 Delayed myelination 
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 HP:0002521 Hypsarrhythmia "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes demonstrated by electroencephalography (EEG)." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002836 Bladder exstrophy 
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 HP:0003593 Early onset 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr