Gene/Proteome Database (LMPD)

LMPD ID
LMP002285
Gene ID
788
Species
Homo sapiens (Human)
Gene Name
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
Gene Symbol
Synonyms
CAC; CACT
Alternate Names
mitochondrial carnitine/acylcarnitine carrier protein
Chromosome
3
Map Location
3p21.31
Summary
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]
Orthologs

Proteins

mitochondrial carnitine/acylcarnitine carrier protein
Refseq ID NP_000378
Protein GI 4557403
UniProt ID O43772
mRNA ID NM_000387
Length 301
RefSeq Status REVIEWED
MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKVRLQTQPPSLPGQPPMYSGTFDCFRKTLFREGITGLYRGMAAPIIGVTPMFAVCFFGFGLGKKLQQKHPEDVLSYPQLFAAGMLSGVFTTGIMTPGERIKCLLQIQASSGESKYTGTLDCAKKLYQEFGIRGIYKGTVLTLMRDVPASGMYFMTYEWLKNIFTPEGKRVSELSAPRILVAGGIAGIFNWAVAIPPDVLKSRFQTAPPGKYPNGFRDVLRELIRDEGVTSLYKGFNAVMIRAFPANAACFLGFEVAMKFLNWATPNL

Gene Information

Entrez Gene ID
788
Gene Name
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
Gene Symbol
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0005743 TAS:Reactome C mitochondrial inner membrane
GO:0005739 IDA:UniProt C mitochondrion
GO:0006853 TAS:Reactome P carnitine shuttle
GO:0044255 TAS:Reactome P cellular lipid metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_11082 Import of palmitoyl-CoA into the mitochondrial matrix
REACT_111217 Metabolism

Domain Information

InterPro Annotations

Accession Description
IPR023395 Mitochondrial carrier domain
IPR018108 Mitochondrial substrate/solute carrier

UniProt Annotations

Entry Information

Gene Name
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
Protein Entry
MCAT_HUMAN
UniProt ID
Species
Human

Comments

Comment Type Description
Disease Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM
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.
Similarity Belongs to the mitochondrial carrier (TC 2.A.29) family.
Similarity Contains 3 Solcar repeats. {ECO
Subcellular Location Mitochondrion inner membrane; Multi-pass membrane protein.

Identical and Related Proteins

Unique RefSeq proteins for LMP002285 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4557403 RefSeq NP_000378 301 mitochondrial carnitine/acylcarnitine carrier protein

Identical Sequences to LMP002285 proteins

Reference Database Accession Length Protein Name
GI:4557403 GenBank JAA04854.1 301 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 [Pan troglodytes]
GI:4557403 GenBank JAA13467.1 301 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 [Pan troglodytes]
GI:4557403 GenBank JAA24985.1 301 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 [Pan troglodytes]
GI:4557403 GenBank JAA36019.1 301 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 [Pan troglodytes]
GI:4557403 RefSeq XP_516446.3 301 PREDICTED: mitochondrial carnitine/acylcarnitine carrier protein [Pan troglodytes]
GI:4557403 RefSeq XP_003818439.1 301 PREDICTED: mitochondrial carnitine/acylcarnitine carrier protein [Pan paniscus]

Related Sequences to LMP002285 proteins

Reference Database Accession Length Protein Name
GI:4557403 EMBL CAB55356.1 301 carnitine/acylcarnitine translocase [Homo sapiens]
GI:4557403 EMBL CAH92636.1 301 hypothetical protein [Pongo abelii]
GI:4557403 GenBank AAV38345.1 302 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20, partial [synthetic construct]
GI:4557403 GenBank AAX43059.1 302 solute carrier family 25 member 20, partial [synthetic construct]
GI:4557403 RefSeq NP_001126542.1 301 mitochondrial carnitine/acylcarnitine carrier protein [Pongo abelii]
GI:4557403 RefSeq XP_004034154.1 301 PREDICTED: mitochondrial carnitine/acylcarnitine carrier protein [Gorilla gorilla gorilla]