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Aliases for SLC25A20 Gene

Aliases for SLC25A20 Gene

  • Solute Carrier Family 25 Member 20 2 3 4 5
  • Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase), Member 20 2 3
  • Carnitine/Acylcarnitine Translocase 2 4
  • CACT 3 4
  • CAC 3 4
  • Mitochondrial Carnitine/Acylcarnitine Carrier Protein 3
  • Carnitine-Acylcarnitine Carrier 2

External Ids for SLC25A20 Gene

Previous HGNC Symbols for SLC25A20 Gene

  • CACT

Previous GeneCards Identifiers for SLC25A20 Gene

  • GC03U990014
  • GC03P048129
  • GC03M048748
  • GC03M048853

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 Member 20) is a Protein Coding gene. Diseases associated with SLC25A20 include Carnitine-Acylcarnitine Translocase Deficiency and Cardiac Arrest. Among its related pathways are Import of palmitoyl-CoA into the mitochondrial matrix and Mitochondrial LC-Fatty Acid Beta-Oxidation. 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A20 Gene

Genomics for SLC25A20 Gene

Regulatory Elements for SLC25A20 Gene

Enhancers for SLC25A20 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G048896 1.1 ENCODE 0.7 +0.7 706 3.2 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 WDR6 QRICH1 NME6 MRPS18AP1 ZNF589 ARIH2OS ARIH2 RHOA-IT1 CCDC71 TMEM89
GH03G048917 1.1 ENCODE 0.4 -19.8 -19826 3.4 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF207 SP3 WDR6 QRICH1 CCDC71 ZNF589 AMT ARIH2 SLC25A20
GH03G048855 0.7 ENCODE 0.3 +42.6 42631 1.3 ELF3 CTCF SAP130 ARID4B ZNF384 RAD21 KAT8 NCOR1 RCOR2 GABPB1 WDR6 NCKIPSD PRKAR2A SLC25A20
GH03G048853 0.2 ENCODE 0.2 +45.0 45003 1.0 WDR6 NCKIPSD PRKAR2A SLC25A20
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC25A20 on UCSC Golden Path with GeneCards custom track

Promoters for SLC25A20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152163 293 1001 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143

Genomic Location for SLC25A20 Gene

Chromosome:
3
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

Genes around SLC25A20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for SLC25A20 Gene

  • Ubiquitination at isoforms=244
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A20 Gene

Domains & Families for SLC25A20 Gene

Gene Families for SLC25A20 Gene

Protein Domains for SLC25A20 Gene

Suggested Antigen Peptide Sequences for SLC25A20 Gene

Graphical View of Domain Structure for InterPro Entry

O43772

UniProtKB/Swiss-Prot:

MCAT_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
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.

Gene Ontology (GO) - Molecular Function for SLC25A20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005476 carnitine:acyl carnitine antiporter activity IBA --
GO:0015226 carnitine transmembrane transporter activity IBA --
GO:0015227 acyl carnitine transmembrane transporter activity EXP 9399886
genes like me logo Genes that share ontologies with SLC25A20: view
genes like me logo Genes that share phenotypes with SLC25A20: view

Human Phenotype Ontology for SLC25A20 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC25A20 Gene

MGI Knock Outs for SLC25A20:

Animal Model Products

CRISPR Products

miRNA for SLC25A20 Gene

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A20 gene
Compartment Confidence
mitochondrion 5
cytosol 5
plasma membrane 2
peroxisome 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC25A20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 20833797
GO:0005743 mitochondrial inner membrane TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA --
genes like me logo Genes that share ontologies with SLC25A20: view

Pathways & Interactions for SLC25A20 Gene

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

Gene Ontology (GO) - Biological Process for SLC25A20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006839 mitochondrial transport IBA --
GO:0006853 carnitine shuttle TAS --
GO:0015879 carnitine transport IBA --
GO:1902603 carnitine transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A20: view

No data available for SIGNOR curated interactions for SLC25A20 Gene

Drugs & Compounds for SLC25A20 Gene

(11) Drugs for SLC25A20 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Carnitine Approved Pharma Target 0
Acetylcarnitine Approved, Investigational Pharma 44
Caprylic acid Experimental Pharma 0
decanoic acid Experimental Pharma Full agonist, Agonist 144
lauric acid Experimental Pharma Agonist 0

(7) Additional Compounds for SLC25A20 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4,8 Dimethylnonanoyl carnitine
  • 4,8-Dimethylnonanoylcarnitine
Caproic acid
  • 1-Hexanoate
  • 1-Hexanoic acid
  • 1-Pentanecarboxylate
  • 1-Pentanecarboxylic acid
  • Butylacetate
142-62-1
Propionylcarnitine
  • (+/-)-Propionylcarnitine chloride
  • (3-carboxy-2-hydroxypropyl)trimethyl-hydroxide Ammonium inner salt
  • 3-Carboxy-N,N,N-trimethyl-2-(1-oxopropoxy)-1-propanaminium inner salt
  • L-Propionylcarnitine
  • O-Propanoylcarnitine
17298-37-2
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x5.7).

Protein differential expression in normal tissues from HIPED for SLC25A20 Gene

This gene is overexpressed in Nasal epithelium (19.9), Gallbladder (9.1), Liver (9.1), and Monocytes (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC25A20 Gene



Protein tissue co-expression partners for SLC25A20 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC25A20 Gene:

SLC25A20

SOURCE GeneReport for Unigene cluster for SLC25A20 Gene:

Hs.13845

Evidence on tissue expression from TISSUES for SLC25A20 Gene

  • Liver(4.5)
  • Skin(4.3)
  • Nervous system(2.5)
  • Muscle(2.3)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A20 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • kidney
  • liver
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with SLC25A20: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SLC25A20 Gene

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 35 34
  • 99.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A20 34 35
  • 92.03 (n)
cow
(Bos Taurus)
Mammalia SLC25A20 35 34
  • 90.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a20 34 16 35
  • 89.15 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a20 34
  • 89.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A20 35
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves SLC25A20 34 35
  • 77.41 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A20 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a20.2 34
  • 72.98 (n)
MGC76097 34
African clawed frog
(Xenopus laevis)
Amphibia slc25a20-prov 34
zebrafish
(Danio rerio)
Actinopterygii slc25a20 34 35
  • 72.46 (n)
zgc77760 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9582 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006104 34
  • 61.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta colt 36 34 35
  • 56.95 (n)
CG3476 36 35
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea dif-1 36 34 35
  • 55.91 (n)
R07B7.10 36
  • 29 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL264C 34
  • 48.63 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C13431g 34
  • 47.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CRC1 34 35 37
  • 45.76 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons BOU 34
  • 46.31 (n)
rice
(Oryza sativa)
Liliopsida Os10g0573700 34
  • 50.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3813 35
  • 60 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07263 34
  • 50.36 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4818 34
Species where no ortholog for SLC25A20 was found in the sources mined by GeneCards:
  • 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

(11) 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
rs28934589 Pathogenic, Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM:212138] 48,859,097(-) ATTCC(A/G)GACTG reference, missense
rs577331691 Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM:212138] 48,859,119(+) CACAT(C/G)TGGGG reference, missense
rs748394731 Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM:212138] 48,879,378(+) GATCC(A/G)TTCTC reference, missense
rs151340616 Pathogenic 48,862,581(-) GGATC(C/T)GAGGC reference, stop-gained
rs541208710 Pathogenic 48,884,134(+) AAGGA(A/C)TCACA intron-variant

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

Variant ID Type Subtype PubMed ID
esv3412312 CNV duplication 20981092
esv3893694 CNV loss 25118596
esv6072 CNV gain 19470904

Variation tolerance for SLC25A20 Gene

Residual Variation Intolerance Score: 29.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC25A20 Gene

Human Gene Mutation Database (HGMD)
SLC25A20
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A20 Gene

Disorders for SLC25A20 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SLC25A20 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
carnitine-acylcarnitine translocase deficiency
  • cact deficiency
cardiac arrest
  • cardiopulmonary arrest
fatty acid oxidation disorders
  • faod
gait apraxia
hypoglycemia
  • hypoglycaemia
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SLC25A20

Genetic Association Database (GAD)
SLC25A20
Human Genome Epidemiology (HuGE) Navigator
SLC25A20
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC25A20
genes like me logo Genes that share disorders with SLC25A20: view

No data available for Genatlas for SLC25A20 Gene

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 22 64
  2. Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells. (PMID: 15515015) Peluso G. … Calvani M. (J. Cell. Physiol. 2005) 3 22 25 64
  3. 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 22 64
  4. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (PMID: 15365988) Iacobazzi V. … Taroni F. (Hum. Mutat. 2004) 3 4 22 64
  5. 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 22 64

Products for SLC25A20 Gene

Sources for SLC25A20 Gene

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