UniProtKB - O43772 (MCAT_HUMAN)
Protein
Mitochondrial carnitine/acylcarnitine carrier protein
Gene
SLC25A20
Organism
Homo sapiens (Human)
Status
Functioni
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.By similarity
Catalytic activityi
- (R)-carnitine(out) + O-acetyl-(R)-carnitine(in) = (R)-carnitine(in) + O-acetyl-(R)-carnitine(out)By similarity
- (R)-carnitine(out) + O-propanoyl-(R)-carnitine(in) = (R)-carnitine(in) + O-propanoyl-(R)-carnitine(out)By similarity
- (R)-carnitine(out) + O-hexadecanoyl-(R)-carnitine(in) = (R)-carnitine(in) + O-hexadecanoyl-(R)-carnitine(out)By similarity
- (R)-carnitine(out) + O-octanoyl-(R)-carnitine(in) = (R)-carnitine(in) + O-octanoyl-(R)-carnitine(out)By similarity
GO - Molecular functioni
- acyl carnitine transmembrane transporter activity Source: Reactome
GO - Biological processi
- carnitine shuttle Source: Reactome
- carnitine transmembrane transport Source: UniProtKB
- in utero embryonic development Source: Ensembl
Keywordsi
Biological process | Transport |
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000178537-MONOMER |
PathwayCommonsi | O43772 |
Reactomei | R-HSA-200425, Carnitine metabolism |
SIGNORi | O43772 |
Protein family/group databases
TCDBi | 2.A.29.8.3, the mitochondrial carrier (mc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Mitochondrial carnitine/acylcarnitine carrier proteinCuratedAlternative name(s): Carnitine/acylcarnitine translocase Short name: CAC Solute carrier family 25 member 20 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1421, SLC25A20 |
MIMi | 613698, gene |
neXtProti | NX_O43772 |
VEuPathDBi | HostDB:ENSG00000178537.9 |
Subcellular locationi
Mitochondrion
Cytosol
- cytosol Source: HPA
Mitochondrion
- mitochondrial inner membrane Source: Reactome
- mitochondrion Source: HPA
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 2 – 12 | CytoplasmicSequence analysisAdd BLAST | 11 | |
Transmembranei | 13 – 31 | Helical; Name=1Sequence analysisAdd BLAST | 19 | |
Topological domaini | 32 – 73 | Mitochondrial matrixSequence analysisAdd BLAST | 42 | |
Transmembranei | 74 – 93 | Helical; Name=2Sequence analysisAdd BLAST | 20 | |
Topological domaini | 94 – 112 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 113 – 131 | Helical; Name=3Sequence analysisAdd BLAST | 19 | |
Topological domaini | 132 – 170 | Mitochondrial matrixSequence analysisAdd BLAST | 39 | |
Transmembranei | 171 – 190 | Helical; Name=4Sequence analysisAdd BLAST | 20 | |
Topological domaini | 191 – 211 | CytoplasmicSequence analysisAdd BLAST | 21 | |
Transmembranei | 212 – 230 | Helical; Name=5Sequence analysisAdd BLAST | 19 | |
Topological domaini | 231 – 267 | Mitochondrial matrixSequence analysisAdd BLAST | 37 | |
Transmembranei | 268 – 287 | Helical; Name=6Sequence analysisAdd BLAST | 20 | |
Topological domaini | 288 – 301 | CytoplasmicSequence analysisAdd BLAST | 14 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Carnitine-acylcarnitine translocase deficiency (CACTD)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021818 | 133 | R → W in CACTD. 1 PublicationCorresponds to variant dbSNP:rs748394731Ensembl. | 1 | |
Natural variantiVAR_021819 | 231 | D → H in CACTD. 1 PublicationCorresponds to variant dbSNP:rs577331691EnsemblClinVar. | 1 | |
Natural variantiVAR_021820 | 238 | Q → R in CACTD. 2 PublicationsCorresponds to variant dbSNP:rs28934589EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 788 |
MalaCardsi | SLC25A20 |
MIMi | 212138, phenotype |
OpenTargetsi | ENSG00000178537 |
Orphaneti | 159, Carnitine-acylcarnitine translocase deficiency |
PharmGKBi | PA35031 |
Miscellaneous databases
Pharosi | O43772, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2216740 |
DrugBanki | DB00583, Levocarnitine |
Genetic variation databases
BioMutai | SLC25A20 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000090628 | 2 – 301 | Mitochondrial carnitine/acylcarnitine carrier proteinAdd BLAST | 300 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 148 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 157 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 170 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 170 | N6-succinyllysine; alternateBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | O43772 |
jPOSTi | O43772 |
MassIVEi | O43772 |
MaxQBi | O43772 |
PaxDbi | O43772 |
PeptideAtlasi | O43772 |
PRIDEi | O43772 |
ProteomicsDBi | 49166 |
TopDownProteomicsi | O43772 |
PTM databases
iPTMneti | O43772 |
PhosphoSitePlusi | O43772 |
SwissPalmi | O43772 |
Expressioni
Gene expression databases
Bgeei | ENSG00000178537, Expressed in liver and 237 other tissues |
ExpressionAtlasi | O43772, baseline and differential |
Genevisiblei | O43772, HS |
Organism-specific databases
HPAi | ENSG00000178537, Tissue enhanced (blood, liver) |
Interactioni
Binary interactionsi
O43772
With | #Exp. | IntAct |
---|---|---|
LAMP2 - isoform LAMP-2B [P13473-2] | 3 | EBI-727085,EBI-21591415 |
Protein-protein interaction databases
BioGRIDi | 107241, 56 interactors |
IntActi | O43772, 16 interactors |
STRINGi | 9606.ENSP00000326305 |
Chemistry databases
BindingDBi | O43772 |
Miscellaneous databases
RNActi | O43772, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 8 – 99 | Solcar 1Add BLAST | 92 | |
Repeati | 108 – 196 | Solcar 2Add BLAST | 89 | |
Repeati | 207 – 293 | Solcar 3Add BLAST | 87 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0758, Eukaryota |
GeneTreei | ENSGT00940000157863 |
HOGENOMi | CLU_015166_16_0_1 |
InParanoidi | O43772 |
OMAi | NIVAPNF |
OrthoDBi | 1072378at2759 |
PhylomeDBi | O43772 |
TreeFami | TF300894 |
Family and domain databases
Gene3Di | 1.50.40.10, 2 hits |
InterProi | View protein in InterPro IPR018108, Mitochondrial_sb/sol_carrier IPR023395, Mt_carrier_dom_sf |
Pfami | View protein in Pfam PF00153, Mito_carr, 3 hits |
SUPFAMi | SSF103506, SSF103506, 1 hit |
PROSITEi | View protein in PROSITE PS50920, SOLCAR, 3 hits |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
O43772-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MADQPKPISP LKNLLAGGFG GVCLVFVGHP LDTVKVRLQT QPPSLPGQPP
60 70 80 90 100
MYSGTFDCFR KTLFREGITG LYRGMAAPII GVTPMFAVCF FGFGLGKKLQ
110 120 130 140 150
QKHPEDVLSY PQLFAAGMLS GVFTTGIMTP GERIKCLLQI QASSGESKYT
160 170 180 190 200
GTLDCAKKLY QEFGIRGIYK GTVLTLMRDV PASGMYFMTY EWLKNIFTPE
210 220 230 240 250
GKRVSELSAP RILVAGGIAG IFNWAVAIPP DVLKSRFQTA PPGKYPNGFR
260 270 280 290 300
DVLRELIRDE GVTSLYKGFN AVMIRAFPAN AACFLGFEVA MKFLNWATPN
L
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JPE1 | C9JPE1_HUMAN | Mitochondrial carnitine/acylcarniti... | SLC25A20 | 228 | Annotation score: | ||
F8WEF6 | F8WEF6_HUMAN | Mitochondrial carnitine/acylcarniti... | SLC25A20 | 76 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 203 | R → S in CAB55356 (PubMed:9837782).Curated | 1 | |
Sequence conflicti | 240 | A → G in CAB55356 (PubMed:9837782).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021818 | 133 | R → W in CACTD. 1 PublicationCorresponds to variant dbSNP:rs748394731Ensembl. | 1 | |
Natural variantiVAR_021819 | 231 | D → H in CACTD. 1 PublicationCorresponds to variant dbSNP:rs577331691EnsemblClinVar. | 1 | |
Natural variantiVAR_021820 | 238 | Q → R in CACTD. 2 PublicationsCorresponds to variant dbSNP:rs28934589EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y10319 mRNA Translation: CAA71367.1 Y17775 , Y17776, Y17777, Y17778, Y17779 Genomic DNA Translation: CAB55356.1 AK312962 mRNA Translation: BAG35801.1 BC001689 mRNA Translation: AAH01689.1 |
CCDSi | CCDS2779.1 |
RefSeqi | NP_000378.1, NM_000387.5 |
Genome annotation databases
Ensembli | ENST00000319017; ENSP00000326305; ENSG00000178537 |
GeneIDi | 788 |
KEGGi | hsa:788 |
UCSCi | uc003cva.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y10319 mRNA Translation: CAA71367.1 Y17775 , Y17776, Y17777, Y17778, Y17779 Genomic DNA Translation: CAB55356.1 AK312962 mRNA Translation: BAG35801.1 BC001689 mRNA Translation: AAH01689.1 |
CCDSi | CCDS2779.1 |
RefSeqi | NP_000378.1, NM_000387.5 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 107241, 56 interactors |
IntActi | O43772, 16 interactors |
STRINGi | 9606.ENSP00000326305 |
Chemistry databases
BindingDBi | O43772 |
ChEMBLi | CHEMBL2216740 |
DrugBanki | DB00583, Levocarnitine |
Protein family/group databases
TCDBi | 2.A.29.8.3, the mitochondrial carrier (mc) family |
PTM databases
iPTMneti | O43772 |
PhosphoSitePlusi | O43772 |
SwissPalmi | O43772 |
Genetic variation databases
BioMutai | SLC25A20 |
Proteomic databases
EPDi | O43772 |
jPOSTi | O43772 |
MassIVEi | O43772 |
MaxQBi | O43772 |
PaxDbi | O43772 |
PeptideAtlasi | O43772 |
PRIDEi | O43772 |
ProteomicsDBi | 49166 |
TopDownProteomicsi | O43772 |
Protocols and materials databases
Antibodypediai | 3111, 211 antibodies |
DNASUi | 788 |
Genome annotation databases
Ensembli | ENST00000319017; ENSP00000326305; ENSG00000178537 |
GeneIDi | 788 |
KEGGi | hsa:788 |
UCSCi | uc003cva.5, human |
Organism-specific databases
CTDi | 788 |
DisGeNETi | 788 |
GeneCardsi | SLC25A20 |
HGNCi | HGNC:1421, SLC25A20 |
HPAi | ENSG00000178537, Tissue enhanced (blood, liver) |
MalaCardsi | SLC25A20 |
MIMi | 212138, phenotype 613698, gene |
neXtProti | NX_O43772 |
OpenTargetsi | ENSG00000178537 |
Orphaneti | 159, Carnitine-acylcarnitine translocase deficiency |
PharmGKBi | PA35031 |
VEuPathDBi | HostDB:ENSG00000178537.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0758, Eukaryota |
GeneTreei | ENSGT00940000157863 |
HOGENOMi | CLU_015166_16_0_1 |
InParanoidi | O43772 |
OMAi | NIVAPNF |
OrthoDBi | 1072378at2759 |
PhylomeDBi | O43772 |
TreeFami | TF300894 |
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000178537-MONOMER |
PathwayCommonsi | O43772 |
Reactomei | R-HSA-200425, Carnitine metabolism |
SIGNORi | O43772 |
Miscellaneous databases
BioGRID-ORCSi | 788, 5 hits in 873 CRISPR screens |
ChiTaRSi | SLC25A20, human |
GenomeRNAii | 788 |
Pharosi | O43772, Tbio |
PROi | PR:O43772 |
RNActi | O43772, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000178537, Expressed in liver and 237 other tissues |
ExpressionAtlasi | O43772, baseline and differential |
Genevisiblei | O43772, HS |
Family and domain databases
Gene3Di | 1.50.40.10, 2 hits |
InterProi | View protein in InterPro IPR018108, Mitochondrial_sb/sol_carrier IPR023395, Mt_carrier_dom_sf |
Pfami | View protein in Pfam PF00153, Mito_carr, 3 hits |
SUPFAMi | SSF103506, SSF103506, 1 hit |
PROSITEi | View protein in PROSITE PS50920, SOLCAR, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MCAT_HUMAN | |
Accessioni | O43772Primary (citable) accession number: O43772 Secondary accession number(s): B2R7F4, Q9UIQ2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | June 1, 1998 | |
Last modified: | February 10, 2021 | |
This is version 183 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families