Property Summary

NCBI Gene PubMed Count 29
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 3.2e-08
osteosarcoma -1.279 4.0e-03
pancreatic ductal adenocarcinoma liver m... -1.955 4.0e-03
acute myeloid leukemia -1.500 1.4e-03
ulcerative colitis -1.600 8.3e-08

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.
15515015 The modulation of CACT expression has consequences for CPT 1 activity, while the biologic effects of acetyl-carnitine are not associated with a generic supply of energy compounds but to the anaplerotic property of the molecule.
15365988 The clinical, biochemical, & molecular features of 6 CACT-deficient patients from Italy, Spain, & North America who had significant clinical heterogeneity are reported. 5 novel & 3 previously reported mutations were found.
15057979 A deficiency in CACT was treated with a carnitine diet and administration of medium-chain triglycerides.

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.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
19748481 2009 Regulation of the human SLC25A20 expression by peroxisome proliferator-activated receptor alpha in human hepatoblastoma cells.
18307102 2008 Functional characterization of residues within the carnitine/acylcarnitine translocase RX2PANAAXF distinct motif.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17508264 2007 Prospective treatment in carnitine-acylcarnitine translocase deficiency.
16054041 2005 AMP-activated protein kinase: ancient energy gauge provides clues to modern understanding of metabolism.
15515015 2005 Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15365988 2004 Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
15057979 2004 Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12859414 2003 A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11592821 Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency.
11257506 2001 Molecular enzymology of carnitine transfer and transport.
10697964 2000 Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.
10384384 1999 Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.
9837782 1998 The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2.
9733094 1998 Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders.
9686371 1998 Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.
9533014 1997 Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization.
9399886 1997 Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.
1598097 1992 Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.