Gene/Proteome Database (LMPD)
LMPD ID
LMP002285
Gene ID
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
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
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] |