ENSG00000241935


Homo sapiens

Features
Gene ID: ENSG00000241935
  
Biological name :HOGA1
  
Synonyms : 4-hydroxy-2-oxoglutarate aldolase 1 / HOGA1 / Q86XE5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q24.2
Gene start: 97584323
Gene end: 97612802
  
Corresponding Affymetrix probe sets: 239093_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000359680
Ensembl peptide - ENSP00000359676
Ensembl peptide - ENSP00000359681
NCBI entrez gene - 112817     See in Manteia.
OMIM - 613597
RefSeq - NM_138413
RefSeq - NM_001134670
RefSeq Peptide - NP_001128142
RefSeq Peptide - NP_612422
swissprot - Q86XE5
swissprot - H7BY76
Ensembl - ENSG00000241935
  
Related genetic diseases (OMIM): 613616 - Hyperoxaluria, primary, type III, 613616
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
 hoga1ENSDARG00000018944Danio rerio
 HOGA1ENSGALG00000006134Gallus gallus
 Hoga1ENSMUSG00000025176Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NPL / Q9BXD5 / N-acetylneuraminate pyruvate lyaseENSG0000013583824


Protein motifs (from Interpro)
Interpro ID Name
 IPR002220  DapA-like
 IPR013785  Aldolase-type TIM barrel
 IPR020625  Schiff base-forming aldolase, active site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009436 glyoxylate catabolic process IMP
 biological_processGO:0019470 4-hydroxyproline catabolic process IDA
 biological_processGO:0033609 oxalate metabolic process IMP
 biological_processGO:0042866 pyruvate biosynthetic process IDA
 biological_processGO:0046487 glyoxylate metabolic process IDA
 cellular_componentGO:0005739 mitochondrion ISS
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0008700 4-hydroxy-2-oxoglutarate aldolase activity IDA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA


Pathways (from Reactome)
Pathway description
Glyoxylate metabolism and glycine degradation


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:0000121 Nephrocalcinosis 
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0003159 Hyperoxaluria 
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 HP:0008672 Calcium oxalate nephrolithiasis 
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 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
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 HP:0100515 Pollakisuria "Increased frequency of urination." [HPO:probinson]
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 HP:0100518 Dysuria "Painful or difficult `urination` (GO:0060073)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000241935 HOGA1 / Q86XE5 / 4-hydroxy-2-oxoglutarate aldolase 1  / complex






 

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