Property Summary

NCBI Gene PubMed Count 29
Grant Count 14
R01 Count 10
Funding $674,602.77
PubMed Score 176.56
PubTator Score 73.10

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma -2.900 0.000
osteosarcoma -1.279 0.004
pancreatic ductal adenocarcinoma liver m... -1.955 0.004
acute myeloid leukemia -1.500 0.001
ulcerative colitis -1.600 0.000

Gene RIF (13)

PMID Text
25325845 The antiport mode of transport, typical of mitochondrial carriers such as CAC, results from coupling of uniport reactions in opposite directions mediated by specific amino acid residues.
24088670 C.576G>A, c.106-2a>t and c.516T>C are novel CACT gene mutations.
23322164 CPT2 and CACT are crucial for mitochondrial acylcarnitine formation and export to the extracellular fluids in mitochondrial fatty acid beta-oxidation disorders.
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
22560224 Results show Steroid Receptor Coactivator-3 (SRC-3) plays a central role in long chain fatty acid metabolism by directly regulating carnitine/acyl-carnitine translocase (CACT) gene expression.
21130740 These results show that FOXA and Sp1 sites in HepG2 cells and only the Sp1 site in HEK293 and SK-N-SH cells have a critical role in the transcriptional regulation of the CAC proximal promoter.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19748481 PPARalpha regulates the expression of human SLC25A20 via the peroxisome proliferator responsive element.
18307102 Functional analysis of mutations of residues Pro278 and Ala279 in A. nidulans, together with kinetic data in reconstituted liposomes, suggest a predominant structural role for these amino acids.
17508264 Report the outcome of two siblings with CACT deficiency.
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AA Sequence

MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKVRLQTQPPSLPGQPPMYSGTFDCFRKTLFREGITG      1 - 70
LYRGMAAPIIGVTPMFAVCFFGFGLGKKLQQKHPEDVLSYPQLFAAGMLSGVFTTGIMTPGERIKCLLQI     71 - 140
QASSGESKYTGTLDCAKKLYQEFGIRGIYKGTVLTLMRDVPASGMYFMTYEWLKNIFTPEGKRVSELSAP    141 - 210
RILVAGGIAGIFNWAVAIPPDVLKSRFQTAPPGKYPNGFRDVLRELIRDEGVTSLYKGFNAVMIRAFPAN    211 - 280
AACFLGFEVAMKFLNWATPNL                                                     281 - 301
//

Text Mined References (33)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25325845 2014 Identification of amino acid residues underlying the antiport mechanism of the mitochondrial carnitine/acylcarnitine carrier by site-directed mutagenesis and chemical labeling.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24088670 2013 Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
23322164 2013 Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.
23266187 The mitochondrial transporter family SLC25: identification, properties and physiopathology.
22560224 2012 Ablation of steroid receptor coactivator-3 resembles the human CACT metabolic myopathy.
21269460 2011 Initial characterization of the human central proteome.
21130740 2011 Role of FOXA and Sp1 in mitochondrial acylcarnitine carrier gene expression in different cell lines.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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