Property Summary

NCBI Gene PubMed Count 33
Grant Count 13
R01 Count 11
Funding $2,264,794
PubMed Score 91.01
PubTator Score 44.71

Knowledge Summary

Patent

No data available

Expression

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)
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AA Sequence

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