Property Summary

NCBI Gene PubMed Count 33
PubMed Score 91.01
PubTator Score 44.71

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Gene RIF (16)

PMID Text
26221035 Altered metabolism in 22qDS reflected a critical role for the haploinsufficiency of the mitochondrial citrate transporter SLC25A1, further enhanced by HIF-1alpha, MYC, and metabolite controls.
25072865 SLC25A1 has a key role in TNF-alpha and IFNgamma induced inflammation and is induced at the transcriptional level by these two inflammation mediators cytokines.
24687295 we report for the first time on a patient with a genetically confirmed diagnosis of SLC25A1 deficiency and treatment with either malate or citrate
23561848 Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
23393310 We report for the first time a patient with a mitochondrial citrate carrier deficiency. Our data support a role for citric acid cycle defects in agenesis of corpus callosum
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
22355067 The mitochondrial citrate carrier (CIC) is present and regulates insulin secretion by human male gamete.
21787310 The mitochondrial citrate carrier: a new player in inflammation
21660517 muscular symptoms of CTP deficiency respond to creatine supplementation
20877624 Observational study of gene-disease association. (HuGE Navigator)
20448665 The results of molecular cloning of a citrate transporter from human normal prostate epithelial PNT2-C2 cells, is reported.
19654186 Results suggest an evolutionary conserved role for Sea/SLC25A1 in the regulation of chromosome integrity.
19505435 CIC silencer activity extends over 26 bp (-595/-569), which specifically bind a protein ZNF224 present in HepG2 cell nuclear extracts.
19445897 These results show that FOXA plays a role in the transcriptional regulation of CIC and in insulin secretion.
19240061 Observational study of gene-disease association. (HuGE Navigator)
18706393 These results show that methylation, histone acetylation and Sp1 are important in the transcriptional regulation of the CIC proximal promoter.

AA Sequence

MPAPRAPRALAAAAPASGKAKLTHPGKAILAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYRGIGDC      1 - 70
VRQTVRSHGVLGLYRGLSSLLYGSIPKAAVRFGMFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVV     71 - 140
CPMETIKVKFIHDQTSPNPKYRGFFHGVREIVREQGLKGTYQGLTATVLKQGSNQAIRFFVMTSLRNWYR    141 - 210
GDNPNKPMNPLITGVFGAIAGAASVFGNTPLDVIKTRMQGLEAHKYRNTWDCGLQILKKEGLKAFYKGTV    211 - 280
PRLGRVCLDVAIVFVIYDEVVKLLNKVWKTD                                           281 - 311
//

Text Mined References (38)

PMID Year Title
26221035 2015 Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25072865 2014 A key role of the mitochondrial citrate carrier (SLC25A1) in TNF?- and IFN?-triggered inflammation.
24687295 2014 Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23561848 2013 Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
23393310 2013 Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23266187 The mitochondrial transporter family SLC25: identification, properties and physiopathology.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
22355067 2012 The mitochondrial citrate carrier (CIC) is present and regulates insulin secretion by human male gamete.
22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
21787310 2011 The mitochondrial citrate carrier: a new player in inflammation.
21660517 2012 Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20448665 2010 Molecular origin of plasma membrane citrate transporter in human prostate epithelial cells.
19654186 2009 A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19505435 2009 Transcription of the mitochondrial citrate carrier gene: identification of a silencer and its binding protein ZNF224.
19445897 2009 Role of FOXA in mitochondrial citrate carrier gene expression and insulin secretion.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18706393 2008 Epigenetic mechanisms and Sp1 regulate mitochondrial citrate carrier gene expression.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
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.
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.
9254007 1997 Organization and sequence of the human gene for the mitochondrial citrate transport protein.
8944226 1996 Biosynthesis of triacylglycerols.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8776594 1996 A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.
8666394 1995 Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region.
8660975 1996 Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region.
8514800 1993 The mitochondrial tricarboxylate transport protein. cDNA cloning, primary structure, and comparison with other mitochondrial transport proteins.