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Protein

Mitochondrial carnitine/acylcarnitine carrier protein

Gene

SLC25A20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000178537-MONOMER.
ZFISH:ENSG00000178537-MONOMER.
ReactomeiR-HSA-200425. Import of palmitoyl-CoA into the mitochondrial matrix.

Protein family/group databases

TCDBi2.A.29.8.3. the mitochondrial carrier (mc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial carnitine/acylcarnitine carrier protein
Alternative name(s):
Carnitine/acylcarnitine translocase
Short name:
CAC
Solute carrier family 25 member 20
Gene namesi
Name:SLC25A20
Synonyms:CAC, CACT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:1421. SLC25A20.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini2 – 12CytoplasmicSequence analysisAdd BLAST11
Transmembranei13 – 31Helical; Name=1Sequence analysisAdd BLAST19
Topological domaini32 – 73Mitochondrial matrixSequence analysisAdd BLAST42
Transmembranei74 – 93Helical; Name=2Sequence analysisAdd BLAST20
Topological domaini94 – 112CytoplasmicSequence analysisAdd BLAST19
Transmembranei113 – 131Helical; Name=3Sequence analysisAdd BLAST19
Topological domaini132 – 170Mitochondrial matrixSequence analysisAdd BLAST39
Transmembranei171 – 190Helical; Name=4Sequence analysisAdd BLAST20
Topological domaini191 – 211CytoplasmicSequence analysisAdd BLAST21
Transmembranei212 – 230Helical; Name=5Sequence analysisAdd BLAST19
Topological domaini231 – 267Mitochondrial matrixSequence analysisAdd BLAST37
Transmembranei268 – 287Helical; Name=6Sequence analysisAdd BLAST20
Topological domaini288 – 301CytoplasmicSequence analysisAdd BLAST14

GO - Cellular componenti

  • cytoplasm Source: HPA
  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane Source: Reactome
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Carnitine-acylcarnitine translocase deficiency (CACTD)3 Publications
The disease is caused by mutations 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.
See also OMIM:212138
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021818133R → W in CACTD. 1 PublicationCorresponds to variant rs748394731dbSNPEnsembl.1
Natural variantiVAR_021819231D → H in CACTD. 1 PublicationCorresponds to variant rs577331691dbSNPEnsembl.1
Natural variantiVAR_021820238Q → R in CACTD. 2 PublicationsCorresponds to variant rs28934589dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi788.
MalaCardsiSLC25A20.
MIMi212138. phenotype.
OpenTargetsiENSG00000178537.
Orphaneti159. Carnitine-acylcarnitine translocase deficiency.
PharmGKBiPA35031.

Chemistry databases

ChEMBLiCHEMBL2216740.
DrugBankiDB00583. L-Carnitine.

Polymorphism and mutation databases

BioMutaiSLC25A20.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000906282 – 301Mitochondrial carnitine/acylcarnitine carrier proteinAdd BLAST300

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei148N6-acetyllysineBy similarity1
Modified residuei157N6-acetyllysineBy similarity1
Modified residuei170N6-acetyllysine; alternateBy similarity1
Modified residuei170N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiO43772.
MaxQBiO43772.
PaxDbiO43772.
PeptideAtlasiO43772.
PRIDEiO43772.
TopDownProteomicsiO43772.

PTM databases

iPTMnetiO43772.
PhosphoSitePlusiO43772.

Expressioni

Gene expression databases

BgeeiENSG00000178537.
CleanExiHS_SLC25A20.
ExpressionAtlasiO43772. baseline and differential.
GenevisibleiO43772. HS.

Organism-specific databases

HPAiHPA016862.
HPA029863.

Interactioni

Protein-protein interaction databases

BioGridi107241. 20 interactors.
IntActiO43772. 6 interactors.
MINTiMINT-1370660.
STRINGi9606.ENSP00000326305.

Chemistry databases

BindingDBiO43772.

Structurei

3D structure databases

ProteinModelPortaliO43772.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati8 – 99Solcar 1Add BLAST92
Repeati108 – 196Solcar 2Add BLAST89
Repeati207 – 293Solcar 3Add BLAST87

Sequence similaritiesi

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0758. Eukaryota.
ENOG410XS86. LUCA.
GeneTreeiENSGT00700000104295.
HOGENOMiHOG000168307.
HOVERGENiHBG003500.
InParanoidiO43772.
KOiK15109.
OMAiAGKSHNE.
OrthoDBiEOG091G0HVE.
PhylomeDBiO43772.
TreeFamiTF300894.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O43772-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:301
Mass (Da):32,944
Last modified:June 1, 1998 - v1
Checksum:iAEB34E4E335102B0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti203R → S in CAB55356 (PubMed:9837782).Curated1
Sequence conflicti240A → G in CAB55356 (PubMed:9837782).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021818133R → W in CACTD. 1 PublicationCorresponds to variant rs748394731dbSNPEnsembl.1
Natural variantiVAR_021819231D → H in CACTD. 1 PublicationCorresponds to variant rs577331691dbSNPEnsembl.1
Natural variantiVAR_021820238Q → R in CACTD. 2 PublicationsCorresponds to variant rs28934589dbSNPEnsembl.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.
CCDSiCCDS2779.1.
RefSeqiNP_000378.1. NM_000387.5.
UniGeneiHs.13845.

Genome annotation databases

EnsembliENST00000319017; ENSP00000326305; ENSG00000178537.
GeneIDi788.
KEGGihsa:788.
UCSCiuc003cva.5. human.

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.
CCDSiCCDS2779.1.
RefSeqiNP_000378.1. NM_000387.5.
UniGeneiHs.13845.

3D structure databases

ProteinModelPortaliO43772.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107241. 20 interactors.
IntActiO43772. 6 interactors.
MINTiMINT-1370660.
STRINGi9606.ENSP00000326305.

Chemistry databases

BindingDBiO43772.
ChEMBLiCHEMBL2216740.
DrugBankiDB00583. L-Carnitine.

Protein family/group databases

TCDBi2.A.29.8.3. the mitochondrial carrier (mc) family.

PTM databases

iPTMnetiO43772.
PhosphoSitePlusiO43772.

Polymorphism and mutation databases

BioMutaiSLC25A20.

Proteomic databases

EPDiO43772.
MaxQBiO43772.
PaxDbiO43772.
PeptideAtlasiO43772.
PRIDEiO43772.
TopDownProteomicsiO43772.

Protocols and materials databases

DNASUi788.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319017; ENSP00000326305; ENSG00000178537.
GeneIDi788.
KEGGihsa:788.
UCSCiuc003cva.5. human.

Organism-specific databases

CTDi788.
DisGeNETi788.
GeneCardsiSLC25A20.
HGNCiHGNC:1421. SLC25A20.
HPAiHPA016862.
HPA029863.
MalaCardsiSLC25A20.
MIMi212138. phenotype.
613698. gene.
neXtProtiNX_O43772.
OpenTargetsiENSG00000178537.
Orphaneti159. Carnitine-acylcarnitine translocase deficiency.
PharmGKBiPA35031.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0758. Eukaryota.
ENOG410XS86. LUCA.
GeneTreeiENSGT00700000104295.
HOGENOMiHOG000168307.
HOVERGENiHBG003500.
InParanoidiO43772.
KOiK15109.
OMAiAGKSHNE.
OrthoDBiEOG091G0HVE.
PhylomeDBiO43772.
TreeFamiTF300894.

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000178537-MONOMER.
ZFISH:ENSG00000178537-MONOMER.
ReactomeiR-HSA-200425. Import of palmitoyl-CoA into the mitochondrial matrix.

Miscellaneous databases

GenomeRNAii788.
PROiO43772.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000178537.
CleanExiHS_SLC25A20.
ExpressionAtlasiO43772. baseline and differential.
GenevisibleiO43772. HS.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMCAT_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 157 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.