Property Summary

NCBI Gene PubMed Count 21
Grant Count 195
R01 Count 92
Funding $19,756,976.06
PubMed Score 95.47
PubTator Score 362.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Multiple myeloma 1.054 0.002
osteosarcoma 1.252 0.000
pancreatic ductal adenocarcinoma liver m... -1.186 0.012
ulcerative colitis -1.100 0.000
ovarian cancer 1.600 0.000

Synonym

Accession P53597 Q9BWB0 Q9UNP6
Symbols GALPHA
MTDPS9
SUCLA1

Gene

Gene RIF (7)

PMID Text
26028457 First Chinese report of succinyl-CoA ligase deficiency caused by novel SUCLG1 mutations; five novel pathogenic mutations in SUCLG1 were identified
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of succinate-CoA ligase, alpha subunit (SUCLG1) expression by HIV-1 Vpr in Vpr transduced macrophages
22980518 3 novel mutations have been identified in patients with the mitochondrial DNA depletion syndrome (c.1048G>A and c.1049G>T in SUCLA2 and c.531+4A>T in SUCLG1).
20877624 Observational study of gene-disease association. (HuGE Navigator)
20693550 Our results suggest that SUCLG1 mutations that lead to complete absence of SUCLG1 protein are responsible for a very severe disorder with antenatal manifestations, whereas a SUCLA2-like phenotype is found in patients with residual SUCLG1 protein.
20227526 A novel mutation in the SUCLG1 gene was found in two newborns having lethal lactic acidosis, multi-organ failure and congenital malformations including interrupted aortic arch.
20197121 This report enlarges the phenotypic spectrum of SUCLG1 mutations and confirms that a characteristic metabolic profile (presence of MMA and C4-DC carnitine in urines) and basal ganglia MRI lesions are the hallmarks of SCS defects.

AA Sequence

MTATLAAAADIATMVSGSSGLAAARLLSRSFLLPQNGIRHCSYTASRQHLYVDKNTKIICQGFTGKQGTF      1 - 70
HSQQALEYGTKLVGGTTPGKGGQTHLGLPVFNTVKEAKEQTGATASVIYVPPPFAAAAINEAIEAEIPLV     71 - 140
VCITEGIPQQDMVRVKHKLLRQEKTRLIGPNCPGVINPGECKIGIMPGHIHKKGRIGIVSRSGTLTYEAV    141 - 210
HQTTQVGLGQSLCVGIGGDPFNGTDFIDCLEIFLNDSATEGIILIGEIGGNAEENAAEFLKQHNSGPNSK    211 - 280
PVVSFIAGLTAPPGRRMGHAGAIIAGGKGGAKEKISALQSAGVVVSMSPAQLGTTIYKEFEKRKML        281 - 346
//

Text Mined References (28)

PMID Year Title
26566883 2016 Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
26028457 2016 Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23870195 2013 Genetics of coronary artery calcification among African Americans, a meta-analysis.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22980518 2012 Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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