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-acy... See more...

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
  • Mitochondrial Carnitine/Acylcarnitine Carrier Protein 3 4
  • Carnitine/Acylcarnitine Translocase 2 4
  • CACT 3 4
  • CAC 3 4
  • 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 Hypoglycemia. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Mitochondrial LC-Fatty Acid Beta-Oxidation. An important paralog of this gene is SLC25A29.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for SLC25A20 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A20 Gene

Genomics for SLC25A20 Gene

GeneHancer (GH) Regulatory Elements for SLC25A20 Gene

Promoters and enhancers for SLC25A20 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A20 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A20

Top Transcription factor binding sites by QIAGEN in the SLC25A20 gene promoter:
  • AhR
  • Arnt
  • Elk-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Pax-2
  • Pax-2a
  • Pax-2b
  • RORalpha1
  • Zic1

Genomic Locations for SLC25A20 Gene

Genomic Locations for SLC25A20 Gene
chr3:48,856,923-48,898,993
(GRCh38/hg38)
Size:
42,071 bases
Orientation:
Minus strand
chr3:48,894,356-48,936,426
(GRCh37/hg19)
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 Lys244
  • 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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A20 Gene

Suggested Antigen Peptide Sequences for SLC25A20 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53016, highly similar to Mitochondrial carnitine/acylcarnitine carrier protein (B4DWZ5_HUMAN)
  • Solute carrier family 25 member 20 (MCAT_HUMAN)

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.

Phenotypes From GWAS Catalog for SLC25A20 Gene

Gene Ontology (GO) - Molecular Function for SLC25A20 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A20

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 3
extracellular 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC25A20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
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

SIGNOR curated interactions for SLC25A20 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SLC25A20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006853 carnitine shuttle TAS --
GO:1902616 acyl carnitine transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A20: view

Drugs & Compounds for SLC25A20 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Carnitine Approved, Investigational Pharma Target 0
Acetylcarnitine Approved, Investigational Pharma 48
lauric acid Approved, Experimental Pharma Agonist 0
Capric acid Experimental Pharma 0
Caprylic acid Investigational Pharma 0

(8) 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-Hexanoic acid
  • 1-Pentanecarboxylic acid
  • 6:0
  • Butylacetic acid
  • C6:0
142-62-1
Propionylcarnitine
  • 3-Carboxy-N,N,N-trimethyl-2-(1-oxopropoxy)-1-propanaminium inner salt
  • O-Propionylcarnitine
  • Propionyl carnitine
  • (+/-)-propionylcarnitine chloride
  • (3-Carboxy-2-hydroxypropyl)trimethyl-hydroxide ammonium inner salt
17298-37-2
genes like me logo Genes that share compounds with SLC25A20: view

Transcripts for SLC25A20 Gene

mRNA/cDNA for SLC25A20 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A20

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

Expression for SLC25A20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SLC25A20 Gene



Protein tissue co-expression partners for SLC25A20 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.4)
  • Heart(2.1)

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
Regions:
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

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 31 30
  • 99.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A20 31 30
  • 92.03 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A20 31 30
  • 90.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a20 17 31 30
  • 89.15 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a20 30
  • 89.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A20 31
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 77 (a)
OneToMany
-- 31
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves SLC25A20 31 30
  • 77.41 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A20 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a20.2 30
  • 72.98 (n)
MGC76097 30
African clawed frog
(Xenopus laevis)
Amphibia slc25a20-prov 30
zebrafish
(Danio rerio)
Actinopterygii slc25a20 31 30
  • 72.46 (n)
OneToOne
zgc77760 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9582 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006104 30
  • 61.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta colt 31 32 30
  • 56.95 (n)
OneToMany
CG3476 31 32
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dif-1 31 32 30
  • 55.91 (n)
OneToOne
R07B7.10 32
  • 29 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL264C 30
  • 48.63 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C13431g 30
  • 47.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CRC1 33 31 30
  • 45.76 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons BOU 30
  • 46.31 (n)
rice
(Oryza sativa)
Liliopsida Os10g0573700 30
  • 50.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3813 31
  • 60 (a)
OneToOne
Cin.4818 30
bread mold
(Neurospora crassa)
Ascomycetes NCU07263 30
  • 50.36 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4818 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A20: view image

Paralogs for SLC25A20 Gene

(11) SIMAP similar genes for SLC25A20 Gene using alignment to 4 proteins:

  • MCAT_HUMAN
  • B4DWZ5_HUMAN
  • C9JPE1_HUMAN
  • F8WEF6_HUMAN

Pseudogenes.org Pseudogenes for SLC25A20 Gene

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

Variants for SLC25A20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A20 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
571525 Uncertain Significance: Carnitine acylcarnitine translocase deficiency 48,891,971(-) T/C INTRON_VARIANT
578404 Uncertain Significance: Carnitine acylcarnitine translocase deficiency 48,898,707(-) G/C MISSENSE_VARIANT
587448 Uncertain Significance: Carnitine acylcarnitine translocase deficiency 48,862,652(-) G/C MISSENSE_VARIANT
635295 Uncertain Significance: Carnitine acylcarnitine translocase deficiency 48,859,095(-) T/G MISSENSE_VARIANT
639496 Likely Pathogenic: Carnitine acylcarnitine translocase deficiency 48,858,545(-) AC/A FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for SLC25A20 Gene

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)

Additional Variant Information 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

(15) MalaCards diseases for SLC25A20 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
carnitine-acylcarnitine translocase deficiency
  • cactd
hypoglycemia
  • hypoglycaemia
cardiac arrest
  • cardiopulmonary arrest
carnitine palmitoyltransferase ii deficiency, infantile
  • carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia
carbonic anhydrase va deficiency, hyperammonemia due to
  • ca5ad
- 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.

Additional Disease Information for SLC25A20

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (American journal of human genetics 1997) 2 3 4 23 54
  2. Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells. (PMID: 15515015) Peluso G … Calvani M (Journal of cellular physiology 2005) 3 23 26 54
  3. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. (PMID: 15057979) Iacobazzi V … Longo N (American journal of medical genetics. Part A 2004) 3 4 23 54
  4. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (PMID: 15365988) Iacobazzi V … Taroni F (Human mutation 2004) 3 4 23 54
  5. The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2. (PMID: 9837782) Iacobazzi V … Palmieri F (Biochemical and biophysical research communications 1998) 3 4 23 54

Products for SLC25A20 Gene

Sources for SLC25A20 Gene