Human Gene SUCLG1 (ENST00000393868.7) from GENCODE V44
Description: Homo sapiens succinate-CoA ligase GDP/ADP-forming subunit alpha (SUCLG1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_003849) RefSeq Summary (NM_003849): This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]. Gencode Transcript: ENST00000393868.7 Gencode Gene: ENSG00000163541.12 Transcript (Including UTRs) Position: hg38 chr2:84,423,528-84,459,280 Size: 35,753 Total Exon Count: 9 Strand: - Coding Region Position: hg38 chr2:84,423,746-84,459,269 Size: 35,524 Coding Exon Count: 9
ID:SUCA_HUMAN DESCRIPTION: RecName: Full=Succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial; EC=6.2.1.4; EC=6.2.1.5; AltName: Full=Succinyl-CoA synthetase subunit alpha; Short=SCS-alpha; Flags: Precursor; FUNCTION: Catalyzes the ATP- or GTP-dependent ligation of succinate and CoA to form succinyl-CoA. The nature of the beta subunit determines the nucleotide specificity (By similarity). CATALYTIC ACTIVITY: GTP + succinate + CoA = GDP + phosphate + succinyl-CoA. CATALYTIC ACTIVITY: ATP + succinate + CoA = ADP + phosphate + succinyl-CoA. PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle. SUBUNIT: Heterodimer of an alpha and a beta subunit. SUBCELLULAR LOCATION: Mitochondrion. DISEASE: Defects in SUCLG1 are the cause of mitochondrial DNA depletion syndrome type 9 (MTDPS9) [MIM:245400]. A severe disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. SIMILARITY: Belongs to the succinate/malate CoA ligase alpha subunit family. SEQUENCE CAUTION: Sequence=AAD17940.2; Type=Erroneous initiation; Sequence=AAH00504.1; Type=Erroneous initiation; Sequence=CAA92426.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF02629 - CoA binding domain PF00549 - CoA-ligase
ModBase Predicted Comparative 3D Structure on P53597
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
GeneReviews article(s) related to gene SUCLG1: suclg1-mtddepl (SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria)
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