Property Summary

NCBI Gene PubMed Count 21
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 2.3e-03
osteosarcoma 1.252 3.7e-04
pancreatic ductal adenocarcinoma liver m... -1.186 1.2e-02
ulcerative colitis -1.100 1.6e-06
ovarian cancer 1.600 4.4e-04

Protein-protein Interaction (5)

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.
20693550 2010 The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
20453710 2010 Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
20227526 2010 Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.
20197121 2010 New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19526370 2010 A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
18392745 2008 Disorders caused by deficiency of succinate-CoA ligase.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17668387 2007 Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.
16730941 2006 A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15234968 2004 Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9128182 1997 The molecular basis for cross-reaction of an anti-dystrophin antibody with alpha-actinin.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.