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Aliases for SLC25A20 Gene

Aliases for SLC25A20 Gene

  • Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase), Member 20 2 3
  • CACT 3 4 6
  • CAC 3 4 6
  • Carnitine/Acylcarnitine Translocase 2 4
  • Mitochondrial Carnitine/Acylcarnitine Carrier Protein 3
  • Solute Carrier Family 25 Member 20 4
  • Carnitine-Acylcarnitine Carrier 2

External Ids for SLC25A20 Gene

Previous Symbols for SLC25A20 Gene

  • CACT

Summaries for SLC25A20 Gene

Entrez Gene Summary for SLC25A20 Gene

  • This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC25A20 Gene

SLC25A20 (Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase), Member 20) is a Protein Coding gene. Diseases associated with SLC25A20 include carnitine-acylcarnitine translocase deficiency and gait apraxia. Among its related pathways are Metabolism and Metabolism. An important paralog of this gene is SLC25A29.

UniProtKB/Swiss-Prot for SLC25A20 Gene

  • Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A20 Gene

Genomics for SLC25A20 Gene

Genomic Location for SLC25A20 Gene

Start:
48,856,923 bp from pter
End:
48,898,993 bp from pter
Size:
42,071 bases
Orientation:
Minus strand

Genomic View for SLC25A20 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC25A20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A20 Gene

Regulatory Elements for SLC25A20 Gene

Proteins for SLC25A20 Gene

  • Protein details for SLC25A20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43772-MCAT_HUMAN
    Recommended name:
    Mitochondrial carnitine/acylcarnitine carrier protein
    Protein Accession:
    O43772
    Secondary Accessions:
    • B2R7F4
    • Q9UIQ2

    Protein attributes for SLC25A20 Gene

    Size:
    301 amino acids
    Molecular mass:
    32944 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC25A20 Gene

Proteomics data for SLC25A20 Gene at MOPED

Post-translational modifications for SLC25A20 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys244

Other Protein References for SLC25A20 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A20 Gene

Domains for SLC25A20 Gene

Gene Families for SLC25A20 Gene

Protein Domains for SLC25A20 Gene

UniProtKB/Swiss-Prot:

MCAT_HUMAN
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.:
    • O43772
Similarity:
  • Contains 3 Solcar repeats.:
    • O43772
genes like me logo Genes that share domains with SLC25A20: view

Function for SLC25A20 Gene

Molecular function for SLC25A20 Gene

UniProtKB/Swiss-Prot Function: Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway

Phenotypes for SLC25A20 Gene

GenomeRNAi human phenotypes for SLC25A20:
genes like me logo Genes that share phenotypes with SLC25A20: view

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC25A20 Gene

Localization for SLC25A20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A20 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC25A20 Gene COMPARTMENTS Subcellular localization image for SLC25A20 gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC25A20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A20: view

Pathways for SLC25A20 Gene

genes like me logo Genes that share pathways with SLC25A20: view

Interacting Proteins for SLC25A20 Gene

Gene Ontology (GO) - Biological Process for SLC25A20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006853 carnitine shuttle TAS --
GO:0044255 cellular lipid metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with SLC25A20: view

Compounds for SLC25A20 Gene

(8) HMDB Compounds for SLC25A20 Gene

Compound Synonyms Cas Number PubMed IDs
4,8 dimethylnonanoyl carnitine
  • 4,8-dimethylnonanoylcarnitine
Not Available
Capric acid
  • 1-Nonanecarboxylate
334-48-5
Caproic acid
  • 1-Hexanoate
142-62-1
Caprylic acid
  • 1-Heptanecarboxylate
124-07-2
Dodecanoic acid
  • 1-Undecanecarboxylate
143-07-7

(1) Drugbank Compounds for SLC25A20 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Carnitine
  • (-)-Carnitine
541-15-1 target

(9) Novoseek inferred chemical compound relationships for SLC25A20 Gene

Compound -log(P) Hits PubMed IDs
carnitine 87.2 34
s-adenosylmethionine 84.1 20
pristanic acid 78.3 2
fatty acid 70.6 23
acyl-coa 57.6 2
genes like me logo Genes that share compounds with SLC25A20: view

Transcripts for SLC25A20 Gene

mRNA/cDNA for SLC25A20 Gene

Unigene Clusters for SLC25A20 Gene

Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A20 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1:
SP2: - -

Relevant External Links for SLC25A20 Gene

GeneLoc Exon Structure for
SLC25A20
ECgene alternative splicing isoforms for
SLC25A20

Expression for SLC25A20 Gene

mRNA expression in normal human tissues for SLC25A20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC25A20 Gene

This gene is overexpressed in Liver (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC25A20 Gene

SOURCE GeneReport for Unigene cluster for SLC25A20 Gene Hs.13845

genes like me logo Genes that share expressions with SLC25A20: view

Orthologs for SLC25A20 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A20 36
  • 99.78 (n)
  • 100 (a)
SLC25A20 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A20 36
  • 90.37 (n)
  • 93.69 (a)
SLC25A20 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A20 36
  • 92.03 (n)
  • 96.35 (a)
SLC25A20 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a20 36
  • 89.15 (n)
  • 93.02 (a)
Slc25a20 16
Slc25a20 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 86 (a)
OneToMany
-- 37
  • 77 (a)
OneToMany
-- 37
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A20 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc25a20 36
  • 89.04 (n)
  • 91.36 (a)
chicken
(Gallus gallus)
Aves SLC25A20 36
  • 77.41 (n)
  • 86.05 (a)
SLC25A20 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A20 37
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia slc25a20-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76097 36
slc25a20.2 36
  • 72.98 (n)
  • 84.05 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9582 36
zebrafish
(Danio rerio)
Actinopterygii slc25a20 36
  • 72.46 (n)
  • 81.27 (a)
slc25a20 37
  • 82 (a)
OneToOne
zgc77760 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006104 36
  • 61.32 (n)
  • 62.46 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3476 37
  • 47 (a)
OneToMany
colt 36
  • 56.95 (n)
  • 52.2 (a)
colt 37
  • 51 (a)
OneToMany
colt 38
  • 52 (a)
CG3476 38
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea dif-1 36
  • 55.91 (n)
  • 55.79 (a)
dif-1 37
  • 52 (a)
OneToOne
R07B7.10 38
  • 29 (a)
dif-1 38
  • 55 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL264C 36
  • 48.63 (n)
  • 40.39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CRC1 36
  • 45.76 (n)
  • 36.16 (a)
CRC1 37
  • 32 (a)
OneToOne
CRC1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C13431g 36
  • 47.58 (n)
  • 38.29 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons BOU 36
  • 46.31 (n)
  • 42.14 (a)
rice
(Oryza sativa)
Liliopsida Os10g0573700 36
  • 50.36 (n)
  • 42.5 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07263 36
  • 50.36 (n)
  • 45.71 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4818 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3813 37
  • 60 (a)
OneToOne
Species with no ortholog for SLC25A20:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC25A20 Gene

ENSEMBL:
Gene Tree for SLC25A20 (if available)
TreeFam:
Gene Tree for SLC25A20 (if available)

Paralogs for SLC25A20 Gene

Paralogs for SLC25A20 Gene

Selected SIMAP similar genes for SLC25A20 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for SLC25A20 Gene

genes like me logo Genes that share paralogs with SLC25A20: view

Variants for SLC25A20 Gene

Sequence variations from dbSNP and Humsavar for SLC25A20 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs14828 -- 48,857,012(+) ACACC(C/T)TGGGC utr-variant-3-prime
rs4974079 -- 48,869,036(+) aaaaa(G/T)gagca intron-variant
rs4974085 -- 48,887,467(-) TTAGA(C/T)GTTAT intron-variant
rs4974086 -- 48,886,252(-) ccacc(A/G)caccc intron-variant
rs4974087 -- 48,881,799(-) CCTCT(C/T)TGAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A20 Gene

Variant ID Type Subtype PubMed ID
esv6072 CNV Gain 19470904

Relevant External Links for SLC25A20 Gene

HapMap Linkage Disequilibrium report
SLC25A20
Human Gene Mutation Database (HGMD)
SLC25A20

Disorders for SLC25A20 Gene

(1) OMIM Diseases for SLC25A20 Gene (613698)

UniProtKB/Swiss-Prot

MCAT_HUMAN
  • Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM:212138]: A rare long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. {ECO:0000269 PubMed:12859414, ECO:0000269 PubMed:15057979, ECO:0000269 PubMed:15365988}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SLC25A20 Gene

(15) Novoseek inferred disease relationships for SLC25A20 Gene

Disease -log(P) Hits PubMed IDs
hyperammonemia 80.2 9
hypoglycemia 67.4 8
cardiomyopathy 61.2 5
protein deficiency 59.3 3
defect conduction 46.7 1

Relevant External Links for SLC25A20

Genetic Association Database (GAD)
SLC25A20
Human Genome Epidemiology (HuGE) Navigator
SLC25A20
genes like me logo Genes that share disorders with SLC25A20: view

Publications for SLC25A20 Gene

  1. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. (PMID: 9399886) Huizing M. … Palmieri F. (Am. J. Hum. Genet. 1997) 2 3 4 23
  2. Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization. (PMID: 9533014) Viggiano L. … Palmieri F. (Cytogenet. Cell Genet. 1997) 2 3 23
  3. The structure and organization of the human carnitine/acylcarnitine translocase (CACT) gene. (PMID: 9837782) Iacobazzi V. … Palmieri F. (Biochem. Biophys. Res. Commun. 1998) 3 4 23
  4. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (PMID: 15365988) Iacobazzi V. … Taroni F. (Hum. Mutat. 2004) 3 4 23
  5. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. (PMID: 15057979) Iacobazzi V. … Longo N. (Am. J. Med. Genet. A 2004) 3 4 23

Products for SLC25A20 Gene

Sources for SLC25A20 Gene

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