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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 Fatty Acid Oxidation Disorders. Among its related pathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and Import of palmitoyl-CoA into the mitochondrial matrix. 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

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
- Elite enhancer/Elite enhancer-gene association

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

ENSRs around SLC25A20 on UCSC Golden Path with GeneCards custom track

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 Lys 244
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A20 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for SLC25A20

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.
  • Contains 3 Solcar repeats.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Similarity:
  • Contains 3 Solcar repeats.
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:0003735 structural constituent of ribosome 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

Flow Cytometry 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
Jensen Localization Image for SLC25A20 Gene COMPARTMENTS Subcellular localization image for SLC25A20 gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 2
endoplasmic reticulum 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 IEA,IDA 20833797
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0016021 integral component of membrane IEA --
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:0006412 translation IBA --
GO:0006853 carnitine shuttle TAS --
GO:1902616 acyl 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 41
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: Novoseek and HMDB

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

Flow Cytometry 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 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
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
cow
(Bos Taurus)
Mammalia SLC25A20 34
  • 90.37 (n)
  • 93.69 (a)
SLC25A20 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A20 34
  • 92.03 (n)
  • 96.35 (a)
SLC25A20 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a20 34
  • 89.15 (n)
  • 93.02 (a)
Slc25a20 16
Slc25a20 35
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC25A20 34
  • 99.78 (n)
  • 100 (a)
SLC25A20 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc25a20 34
  • 89.04 (n)
  • 91.36 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A20 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A20 34
  • 77.41 (n)
  • 86.05 (a)
SLC25A20 35
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A20 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76097 34
slc25a20.2 34
  • 72.98 (n)
  • 84.05 (a)
African clawed frog
(Xenopus laevis)
Amphibia slc25a20-prov 34
zebrafish
(Danio rerio)
Actinopterygii slc25a20 34
  • 72.46 (n)
  • 81.27 (a)
zgc77760 34
slc25a20 35
  • 82 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9582 34
fruit fly
(Drosophila melanogaster)
Insecta CG3476 36
  • 46 (a)
colt 36
  • 52 (a)
colt 34
  • 56.95 (n)
  • 52.2 (a)
CG3476 35
  • 47 (a)
OneToMany
colt 35
  • 51 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006104 34
  • 61.32 (n)
  • 62.46 (a)
worm
(Caenorhabditis elegans)
Secernentea dif-1 36
  • 55 (a)
R07B7.10 36
  • 29 (a)
dif-1 34
  • 55.91 (n)
  • 55.79 (a)
dif-1 35
  • 52 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL264C 34
  • 48.63 (n)
  • 40.39 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C13431g 34
  • 47.58 (n)
  • 38.29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CRC1 35
  • 32 (a)
OneToOne
CRC1 37
CRC1 34
  • 45.76 (n)
  • 36.16 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons BOU 34
  • 46.31 (n)
  • 42.14 (a)
rice
(Oryza sativa)
Liliopsida Os10g0573700 34
  • 50.36 (n)
  • 42.5 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4818 34
bread mold
(Neurospora crassa)
Ascomycetes NCU07263 34
  • 50.36 (n)
  • 45.71 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3813 35
  • 60 (a)
OneToOne
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
rs748394731 Carnitine-acylcarnitine translocase deficiency (CACTD) 48,879,378(+) GATCC(A/G)TTCTC reference, missense
rs577331691 Carnitine-acylcarnitine translocase deficiency (CACTD) 48,859,119(+) CACAT(C/G)TGGGG intron-variant, reference, missense
rs28934589 Carnitine-acylcarnitine translocase deficiency (CACTD) 48,859,097(-) ATTCC(A/G)GACTG intron-variant, reference, missense
rs14828 -- 48,857,012(+) ACACC(C/T)TGGGC utr-variant-3-prime
rs7621226 -- 48,891,326(+) cacct(C/T)ggcct 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

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

Disorder Aliases PubMed IDs
carnitine-acylcarnitine translocase deficiency
  • cact deficiency
fatty acid oxidation disorders
  • faod
cardiac arrest
  • cardiopulmonary arrest
hypoglycemia
  • hypoglycaemia
gait apraxia
- 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 65
  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 65
  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 65
  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 65
  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 65

Products for SLC25A20 Gene

Sources for SLC25A20 Gene

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