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O43772

- MCAT_HUMAN

UniProt

O43772 - MCAT_HUMAN

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Protein

Mitochondrial carnitine/acylcarnitine carrier protein

Gene

SLC25A20

Organism
Homo sapiens (Human)
Status
Reviewed - 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 - Biological processi

  1. carnitine shuttle Source: Reactome
  2. cellular lipid metabolic process Source: Reactome
  3. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000178537-MONOMER.
ReactomeiREACT_11082. 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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:1421. SLC25A20.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: Reactome
  3. mitochondrion Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331R → W in CACTD. 1 Publication
VAR_021818
Natural varianti231 – 2311D → H in CACTD. 1 Publication
VAR_021819
Natural varianti238 – 2381Q → R in CACTD. 2 Publications
Corresponds to variant rs28934589 [ dbSNP | Ensembl ].
VAR_021820

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi212138. phenotype.
Orphaneti159. Carnitine-acylcarnitine translocase deficiency.
PharmGKBiPA35031.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 301301Mitochondrial carnitine/acylcarnitine carrier proteinPRO_0000090628Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei148 – 1481N6-acetyllysineBy similarity
Modified residuei157 – 1571N6-acetyllysineBy similarity
Modified residuei170 – 1701N6-acetyllysine; alternateBy similarity
Modified residuei170 – 1701N6-succinyllysine; alternateBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiO43772.
PaxDbiO43772.
PeptideAtlasiO43772.
PRIDEiO43772.

PTM databases

PhosphoSiteiO43772.

Expressioni

Gene expression databases

BgeeiO43772.
CleanExiHS_SLC25A20.
ExpressionAtlasiO43772. baseline and differential.
GenevestigatoriO43772.

Organism-specific databases

HPAiHPA016862.
HPA029863.

Interactioni

Protein-protein interaction databases

BioGridi107241. 6 interactions.
IntActiO43772. 1 interaction.
MINTiMINT-1370660.
STRINGi9606.ENSP00000326305.

Structurei

3D structure databases

ProteinModelPortaliO43772.
SMRiO43772. Positions 13-289.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1212CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini32 – 7342Mitochondrial matrixSequence AnalysisAdd
BLAST
Topological domaini94 – 11219CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini132 – 17039Mitochondrial matrixSequence AnalysisAdd
BLAST
Topological domaini191 – 21121CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini231 – 26737Mitochondrial matrixSequence AnalysisAdd
BLAST
Topological domaini288 – 30114CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei13 – 3119Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei74 – 9320Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei113 – 13119Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei171 – 19020Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei212 – 23019Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei268 – 28720Helical; Name=6Sequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati8 – 9992Solcar 1Add
BLAST
Repeati108 – 19689Solcar 2Add
BLAST
Repeati207 – 29387Solcar 3Add
BLAST

Sequence similaritiesi

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG245605.
GeneTreeiENSGT00700000104295.
HOGENOMiHOG000168307.
HOVERGENiHBG003500.
InParanoidiO43772.
KOiK15109.
OMAiLSYPQIF.
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.

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti203 – 2031R → S in CAB55356. (PubMed:9837782)Curated
Sequence conflicti240 – 2401A → G in CAB55356. (PubMed:9837782)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331R → W in CACTD. 1 Publication
VAR_021818
Natural varianti231 – 2311D → H in CACTD. 1 Publication
VAR_021819
Natural varianti238 – 2381Q → R in CACTD. 2 Publications
Corresponds to variant rs28934589 [ dbSNP | Ensembl ].
VAR_021820

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.13845.

3D structure databases

ProteinModelPortali O43772.
SMRi O43772. Positions 13-289.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107241. 6 interactions.
IntActi O43772. 1 interaction.
MINTi MINT-1370660.
STRINGi 9606.ENSP00000326305.

Chemistry

ChEMBLi CHEMBL2216740.
DrugBanki DB00583. L-Carnitine.

Protein family/group databases

TCDBi 2.A.29.8.3. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSitei O43772.

Proteomic databases

MaxQBi O43772.
PaxDbi O43772.
PeptideAtlasi O43772.
PRIDEi O43772.

Protocols and materials databases

DNASUi 788.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000319017 ; ENSP00000326305 ; ENSG00000178537 .
GeneIDi 788.
KEGGi hsa:788.
UCSCi uc003cva.4. human.

Organism-specific databases

CTDi 788.
GeneCardsi GC03M048869.
HGNCi HGNC:1421. SLC25A20.
HPAi HPA016862.
HPA029863.
MIMi 212138. phenotype.
613698. gene.
neXtProti NX_O43772.
Orphaneti 159. Carnitine-acylcarnitine translocase deficiency.
PharmGKBi PA35031.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG245605.
GeneTreei ENSGT00700000104295.
HOGENOMi HOG000168307.
HOVERGENi HBG003500.
InParanoidi O43772.
KOi K15109.
OMAi LSYPQIF.
PhylomeDBi O43772.
TreeFami TF300894.

Enzyme and pathway databases

BioCyci MetaCyc:ENSG00000178537-MONOMER.
Reactomei REACT_11082. Import of palmitoyl-CoA into the mitochondrial matrix.

Miscellaneous databases

GenomeRNAii 788.
NextBioi 3206.
PROi O43772.
SOURCEi Search...

Gene expression databases

Bgeei O43772.
CleanExi HS_SLC25A20.
ExpressionAtlasi O43772. baseline and differential.
Genevestigatori O43772.

Family and domain databases

Gene3Di 1.50.40.10. 1 hit.
InterProi IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view ]
Pfami PF00153. Mito_carr. 3 hits.
[Graphical view ]
SUPFAMi SSF103506. SSF103506. 1 hit.
PROSITEi PS50920. SOLCAR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient."
    Huizing M., Iacobazzi V., Ijlst L., Savelkoul P., Ruitenbeek W., van den Heuvel L., Indiveri C., Smeitink J., Trijbels F., Wanders R., Palmieri F.
    Am. J. Hum. Genet. 61:1239-1245(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], DISEASE.
    Tissue: Liver.
  2. "The structure and organization of the human carnitine/acylcarnitine translocase (CACT) gene."
    Iacobazzi V., Naglieri M.A., Stanley C.A., Wanders R.J.A., Palmieri F.
    Biochem. Biophys. Res. Commun. 252:770-774(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient."
    Al-Aqeel A.I., Rashid M.S., Ruiter J.P., Ijlst L., Wanders R.J.A.
    Clin. Genet. 64:163-165(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CACTD ARG-238.
  7. "Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation."
    Iacobazzi V., Pasquali M., Singh R., Matern D., Rinaldo P., Amat di San Filippo C., Palmieri F., Longo N.
    Am. J. Med. Genet. A 126:150-155(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CACTD ARG-238.
  8. "Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency."
    Iacobazzi V., Invernizzi F., Baratta S., Pons R., Chung W., Garavaglia B., Dionisi-Vici C., Ribes A., Parini R., Huertas M.D., Roldan S., Lauria G., Palmieri F., Taroni F.
    Hum. Mutat. 24:312-320(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CACTD TRP-133 AND HIS-231.

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: October 29, 2014
This is version 136 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

External Data

Dasty 3