ENSG00000163541


Homo sapiens

Features
Gene ID: ENSG00000163541
  
Biological name :SUCLG1
  
Synonyms : P53597 / succinate-CoA ligase alpha subunit / SUCLG1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p11.2
Gene start: 84423523
Gene end: 84460045
  
Corresponding Affymetrix probe sets: 216762_at (Human Genome U133 Plus 2.0 Array)   217874_at (Human Genome U133 Plus 2.0 Array)   244638_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000377446
Ensembl peptide - ENSP00000403884
NCBI entrez gene - 8802     See in Manteia.
OMIM - 611224
RefSeq - NM_003849
RefSeq Peptide - NP_003840
swissprot - P53597
swissprot - H7C233
Ensembl - ENSG00000163541
  
Related genetic diseases (OMIM): 245400 - Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
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
 suclg1ENSDARG00000052712Danio rerio
 SUCLG1ENSGALG00000015961Gallus gallus
 Q9WUM5ENSMUSG00000052738Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACLY / P53396 / ATP citrate lyaseENSG0000013147328


Protein motifs (from Interpro)
Interpro ID Name
 IPR003781  CoA-binding
 IPR005810  Succinyl-CoA ligase, alpha subunit
 IPR005811  ATP-citrate lyase/succinyl-CoA ligase
 IPR016102  Succinyl-CoA synthetase-like
 IPR017440  ATP-citrate lyase/succinyl-CoA ligase, active site
 IPR033847  ATP-citrate lyase/succinyl-CoA ligase, conserved site
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006099 tricarboxylic acid cycle TAS
 biological_processGO:0008152 metabolic process IEA
 cellular_componentGO:0005739 mitochondrion TAS
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005759 mitochondrial matrix IBA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004775 succinate-CoA ligase (ADP-forming) activity IEA
 molecular_functionGO:0004776 succinate-CoA ligase (GDP-forming) activity IBA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0048037 cofactor binding IEA


Pathways (from Reactome)
Pathway description
Citric acid cycle (TCA cycle)


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:0000365 Hearing loss 
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 HP:0000951 Abnormality of the skin "An abnormality of the `skin` (FMA:7163)." [HPO:probinson]
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [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:0001298 Encephalopathy 
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 HP:0001508 Failure to thrive 
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 HP:0001510 Growth retardation 
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0002059 Cerebral atrophy 
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 HP:0002148 Hypophosphatemia "A lower than normal level of blood phosphate." [HPO:curators]
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 HP:0002275 Poor motor coordination 
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 HP:0002317 Unsteady gait 
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 HP:0002878 Early respiratory failure 
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 HP:0003128 Lactic acidemia "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson]
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0003812 Phenotypic variability 
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 HP:0005941 Intermittent hyperpnea at rest 
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 HP:0008335 Renal aminoaciduria 
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0012120 Methylmalonic aciduria "Increased concentration of `methylmalonic acid` (CHEBI:30860) in the urine." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000172340 Q96I99 / SUCLG2 / succinate-CoA ligase GDP-forming beta subunit  / complex
 ENSG00000136143 Q9P2R7 / SUCLA2 / succinate-CoA ligase ADP-forming beta subunit  / complex






 

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