Gene/Proteome Database (LMPD)
LMPD ID
LMP000167
Gene ID
Species
Homo sapiens (Human)
Gene Name
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
Gene Symbol
Synonyms
ACAD1; MCAD; MCADH
Chromosome
1
Map Location
1p31
EC Number
1.3.8.7
Summary
This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor | |
|---|---|
| Refseq ID | NP_000007 |
| Protein GI | 4557231 |
| UniProt ID | P11310 |
| mRNA ID | NM_000016 |
| Length | 421 |
| RefSeq Status | REVIEWED |
| MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN | |
| medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform b precursor | |
|---|---|
| Refseq ID | NP_001120800 |
| Protein GI | 187960098 |
| UniProt ID | P11310 |
| mRNA ID | NM_001127328 |
| Length | 425 |
| RefSeq Status | REVIEWED |
| MAAGFGRCCRCSLQVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN | |
| medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform c | |
|---|---|
| Refseq ID | NP_001272971 |
| Protein GI | 554506554 |
| UniProt ID | B7Z9I1 |
| mRNA ID | NM_001286042 |
| Length | 385 |
| RefSeq Status | REVIEWED |
| MLQEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN | |
| medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform d precursor | |
|---|---|
| Refseq ID | NP_001272972 |
| Protein GI | 554506556 |
| UniProt ID | Q5T4U5 |
| mRNA ID | NM_001286043 |
| Length | 454 |
| RefSeq Status | REVIEWED |
| MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCDYSVCPLLEACTLYLDAFFLLLTGSNLNLHLNLGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN | |
| medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform e | |
|---|---|
| Refseq ID | NP_001272973 |
| Protein GI | 554506558 |
| UniProt ID | B4DJE7 |
| mRNA ID | NM_001286044 |
| Length | 232 |
| RefSeq Status | REVIEWED |
| MWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN | |
| transit_peptide: 1..25 experiment: experimental evidence, no additional details recorded note: Mitochondrion; propagated from UniProtKB/Swiss-Prot (P11310.1) calculated_mol_wt: 2963 peptide sequence: MAAGFGRCCRVLRSISRFHWRSQHT mat_peptide: 26..421 product: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (P11310.1) calculated_mol_wt: 43643 peptide sequence: KANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN mat_peptide: 30..425 product: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (P11310.1) calculated_mol_wt: 43643 peptide sequence: KANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN | |
Gene Information
Entrez Gene ID
Gene Name
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0030424 | IDA:UniProtKB | C | axon |
| GO:0070062 | IDA:UniProt | C | extracellular vesicular exosome |
| GO:0005759 | TAS:Reactome | C | mitochondrial matrix |
| GO:0005739 | IDA:LIFEdb | C | mitochondrion |
| GO:0005634 | IDA:UniProt | C | nucleus |
| GO:0003995 | IMP:UniProtKB | F | acyl-CoA dehydrogenase activity |
| GO:0050660 | IEA:InterPro | F | flavin adenine dinucleotide binding |
| GO:0042802 | IDA:BHF-UCL | F | identical protein binding |
| GO:0070991 | IDA:BHF-UCL | F | medium-chain-acyl-CoA dehydrogenase activity |
| GO:0055007 | IEA:Ensembl | P | cardiac muscle cell differentiation |
| GO:0045329 | IMP:BHF-UCL | P | carnitine biosynthetic process |
| GO:0019254 | IMP:BHF-UCL | P | carnitine metabolic process, CoA-linked |
| GO:0044255 | TAS:Reactome | P | cellular lipid metabolic process |
| GO:0006635 | IMP:UniProtKB | P | fatty acid beta-oxidation |
| GO:0033539 | IDA:BHF-UCL | P | fatty acid beta-oxidation using acyl-CoA dehydrogenase |
| GO:0005978 | IEA:Ensembl | P | glycogen biosynthetic process |
| GO:0001889 | IEA:Ensembl | P | liver development |
| GO:0051793 | IDA:BHF-UCL | P | medium-chain fatty acid catabolic process |
| GO:0051791 | IDA:BHF-UCL | P | medium-chain fatty acid metabolic process |
| GO:0055114 | IDA:BHF-UCL | P | oxidation-reduction process |
| GO:0009791 | IEA:Ensembl | P | post-embryonic development |
| GO:0006111 | IEA:Ensembl | P | regulation of gluconeogenesis |
| GO:0009409 | IEA:Ensembl | P | response to cold |
| GO:0042594 | IEA:Ensembl | P | response to starvation |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
KEGG Pathway Links
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_116145 | PPARA activates gene expression |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR006089 | Acyl-CoA dehydrogenase, conserved site |
| IPR009075 | Acyl-CoA dehydrogenase/oxidase C-terminal |
| IPR013786 | Acyl-CoA dehydrogenase/oxidase, N-terminal |
| IPR009100 | Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain |
| IPR006091 | Acyl-CoA oxidase/dehydrogenase, central domain |
UniProt Annotations
Entry Information
Gene Name
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
Protein Entry
Q5HYG7_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11310-1; Sequence=Displayed; Name=2; IsoId=P11310-2; Sequence=VSP_038420; |
| Catalytic Activity | A medium-chain acyl-CoA + electron-transfer flavoprotein = a medium-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein. |
| Cofactor | Name=FAD; Xref=ChEBI |
| Disease | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM |
| Function | This enzyme is specific for acyl chain lengths of 4 to 16. |
| Miscellaneous | A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues. |
| Miscellaneous | Utilizes the electron transfer flavoprotein (ETF) as electron acceptor that transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase). |
| Pathway | Lipid metabolism; mitochondrial fatty acid beta- oxidation. |
| Ptm | Acetylation at Lys-307 and Lys-311 in proximity of the cofactor-binding sites reduces catalytic activity (By similarity). These sites are deacetylated by SIRT3. {ECO |
| Similarity | Belongs to the acyl-CoA dehydrogenase family. |
| Subcellular Location | Mitochondrion matrix. |
| Subunit | Homotetramer. Interacts with the heterodimeric electron transfer flavoprotein ETF. {ECO |
Identical and Related Proteins
Unique RefSeq proteins for LMP000167 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 4557231 | RefSeq | NP_000007 | 421 | medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor |
| 187960098 | RefSeq | NP_001120800 | 425 | medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform b precursor |
| 554506554 | RefSeq | NP_001272971 | 385 | medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform c |
| 554506556 | RefSeq | NP_001272972 | 454 | medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform d precursor |
| 554506558 | RefSeq | NP_001272973 | 232 | medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform e |
Identical Sequences to LMP000167 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4557231 | DBBJ | BAG35514.1 | 421 | unnamed protein product [Homo sapiens] |
| GI:554506558 | DBBJ | BAG58809.1 | 232 | unnamed protein product [Homo sapiens] |
| GI:554506554 | DBBJ | BAH14317.1 | 385 | unnamed protein product [Homo sapiens] |
| GI:554506556 | GenBank | EAX06399.1 | 454 | acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain, isoform CRA_a [Homo sapiens] |
| GI:187960098 | GenBank | EAX06400.1 | 425 | acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain, isoform CRA_b [Homo sapiens] |
| GI:4557231 | GenBank | EAX06401.1 | 421 | acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain, isoform CRA_c [Homo sapiens] |
| GI:4557231 | GenBank | ABM86636.1 | 421 | acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain, partial [synthetic construct] |
| GI:4557231 | GenBank | ACM80374.1 | 421 | Sequence 5872 from patent US 6812339 |
| GI:187960098 | GenBank | ADT42122.1 | 425 | Sequence 1068 from patent US 7833706 |
| GI:4557231 | GenBank | ADT42123.1 | 421 | Sequence 1069 from patent US 7833706 |
| GI:4557231 | GenBank | AIC48203.1 | 421 | ACADM, partial [synthetic construct] |
Related Sequences to LMP000167 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:187960098 | DBBJ | BAG35514.1 | 421 | unnamed protein product [Homo sapiens] |
| GI:554506554 | DBBJ | BAG63188.1 | 385 | unnamed protein product [Homo sapiens] |
| GI:554506556 | EMBL | CAI45986.1 | 454 | hypothetical protein [Homo sapiens] |
| GI:187960098 | GenBank | AAF63626.1 | 425 | medium-chain acyl-CoA dehydrogenase [Homo sapiens] |
| GI:4557231 | GenBank | AAX29424.1 | 422 | acyl-coenzyme A dehydrogenase C-4 to C-12 straight chain, partial [synthetic construct] |
| GI:187960098 | GenBank | EAX06401.1 | 421 | acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain, isoform CRA_c [Homo sapiens] |
| GI:4557231 | GenBank | ABM83267.1 | 421 | acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain [synthetic construct] |
| GI:4557231 | GenBank | ACM82210.1 | 610 | Sequence 7708 from patent US 6812339 |
| GI:554506556 | GenBank | EHH14892.1 | 430 | hypothetical protein EGK_00891, partial [Macaca mulatta] |
| GI:554506556 | GenBank | EHH50004.1 | 454 | hypothetical protein EGM_00761 [Macaca fascicularis] |
| GI:554506554 | PDB | 1EGE | 396 | Chain A, Structure Of T255e, E376g Mutant Of Human Medium Chain Acyl- Coa Dehydrogenase |
| GI:554506558 | PDB | 1EGE | 396 | Chain A, Structure Of T255e, E376g Mutant Of Human Medium Chain Acyl- Coa Dehydrogenase |
| GI:554506558 | PDB | 1EGE | 396 | Chain B, Structure Of T255e, E376g Mutant Of Human Medium Chain Acyl- Coa Dehydrogenase |
| GI:554506558 | PDB | 1EGE | 396 | Chain C, Structure Of T255e, E376g Mutant Of Human Medium Chain Acyl- Coa Dehydrogenase |
| GI:554506558 | PDB | 1T9G | 396 | Chain B, Structure Of The Human Mcad:etf Complex |
| GI:554506554 | PDB | 1T9G | 396 | Chain B, Structure Of The Human Mcad:etf Complex |
| GI:554506558 | PDB | 1T9G | 396 | Chain C, Structure Of The Human Mcad:etf Complex |
| GI:554506554 | PDB | 1T9G | 396 | Chain C, Structure Of The Human Mcad:etf Complex |
| GI:554506554 | PDB | 1T9G | 396 | Chain D, Structure Of The Human Mcad:etf Complex |
| GI:554506558 | PDB | 1T9G | 396 | Chain D, Structure Of The Human Mcad:etf Complex |
| GI:187960098 | RefSeq | NP_000007.1 | 421 | medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor [Homo sapiens] |
| GI:554506556 | RefSeq | XP_001101187.1 | 454 | PREDICTED: medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 [Macaca mulatta] |
| GI:4557231 | RefSeq | NP_001104286.1 | 421 | medium-chain specific acyl-CoA dehydrogenase, mitochondrial precursor [Pan troglodytes] |
| GI:554506556 | RefSeq | XP_003260263.1 | 454 | PREDICTED: medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 [Nomascus leucogenys] |
| GI:4557231 | RefSeq | XP_003830620.1 | 421 | PREDICTED: medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2 [Pan paniscus] |
| GI:187960098 | RefSeq | XP_008954280.1 | 425 | PREDICTED: medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1 [Pan paniscus] |
| GI:187960098 | RefSeq | XP_009457908.1 | 425 | PREDICTED: medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1 [Pan troglodytes] |
| GI:554506554 | RefSeq | XP_009457916.1 | 385 | PREDICTED: medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2 [Pan troglodytes] |
| GI:554506556 | SwissProt | P11310.1 | 421 | RecName: Full=Medium-chain specific acyl-CoA dehydrogenase, mitochondrial; Short=MCAD; Flags: Precursor [Homo sapiens] |
| GI:4557231 | SwissProt | A5A6I0.1 | 421 | RecName: Full=Medium-chain specific acyl-CoA dehydrogenase, mitochondrial; Short=MCAD; Flags: Precursor [Pan troglodytes] |