ENSG00000148672


Homo sapiens

Features
Gene ID: ENSG00000148672
  
Biological name :GLUD1
  
Synonyms : GLUD1 / glutamate dehydrogenase 1 / P00367
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q23.2
Gene start: 87050486
Gene end: 87094866
  
Corresponding Affymetrix probe sets: 200946_x_at (Human Genome U133 Plus 2.0 Array)   200947_s_at (Human Genome U133 Plus 2.0 Array)   215794_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000277865
NCBI entrez gene - 2746     See in Manteia.
OMIM - 138130
RefSeq - NM_001318902
RefSeq - NM_001318904
RefSeq - NM_001318905
RefSeq - NM_001318906
RefSeq - NM_001318900
RefSeq - NM_001318901
RefSeq - NM_005271
RefSeq Peptide - NP_005262
RefSeq Peptide - NP_001305829
RefSeq Peptide - NP_001305830
RefSeq Peptide - NP_001305831
RefSeq Peptide - NP_001305833
RefSeq Peptide - NP_001305834
RefSeq Peptide - NP_001305835
swissprot - E9KL48
swissprot - P00367
Ensembl - ENSG00000148672
  
Related genetic diseases (OMIM): 606762 - Hyperinsulinism-hyperammonemia syndrome, 606762
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
 glud1aENSDARG00000008816Danio rerio
 glud1bENSDARG00000101074Danio rerio
 ENSGALG00000034735Gallus gallus
 Glud1ENSMUSG00000021794Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GLUD2 / P49448 / glutamate dehydrogenase 2ENSG0000018289090


Protein motifs (from Interpro)
Interpro ID Name
 IPR006095  Glutamate/phenylalanine/leucine/valine dehydrogenase
 IPR006096  Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal
 IPR006097  Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain
 IPR033524  Leu/Phe/Val dehydrogenases active site
 IPR033922  NAD(P) binding domain of glutamate dehydrogenase
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006520 cellular amino acid metabolic process IEA
 biological_processGO:0006537 glutamate biosynthetic process IDA
 biological_processGO:0006538 glutamate catabolic process IDA
 biological_processGO:0006541 glutamine metabolic process ISS
 biological_processGO:0007005 mitochondrion organization TAS
 biological_processGO:0008652 cellular amino acid biosynthetic process TAS
 biological_processGO:0021762 substantia nigra development HEP
 biological_processGO:0032024 positive regulation of insulin secretion IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0072350 tricarboxylic acid metabolic process ISS
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004352 glutamate dehydrogenase (NAD+) activity IDA
 molecular_functionGO:0004353 glutamate dehydrogenase [NAD(P)+] activity EXP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0005525 GTP binding IDA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016639 oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor IEA
 molecular_functionGO:0042802 identical protein binding TAS
 molecular_functionGO:0043531 ADP binding IDA
 molecular_functionGO:0070403 NAD+ binding IDA
 molecular_functionGO:0070728 leucine binding IDA


Pathways (from Reactome)
Pathway description
Transcriptional activation of mitochondrial biogenesis
Amino acid synthesis and interconversion (transamination)


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:0000825 Hyperinsulinemic hypoglycemia 
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 HP:0001249 Mental retardation 
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 HP:0001325 Hypoglycemic coma 
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 HP:0001425 Heterogeneous 
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 HP:0002173 Seizures, hypoglycemic 
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 HP:0008162 Hyperammonemia, asymptomatic 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000089163 SIRT4 / Q9Y6E7 / sirtuin 4  / reaction
 ENSG00000148672 GLUD1 / P00367 / glutamate dehydrogenase 1  / complex
 ENSG00000142082 SIRT3 / Q9NTG7 / sirtuin 3  / reaction






 

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