Gene/Proteome Database (LMPD)
LMPD ID
LMP002407
Gene ID
Species
Homo sapiens (Human)
Gene Name
hydroxyacyl-CoA dehydrogenase
Gene Symbol
Synonyms
HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD; SCHAD
Alternate Names
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial; short-chain 3-hydroxyacyl-CoA dehydrogenase; L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain; medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase
Chromosome
4
Map Location
4q22-q26
EC Number
1.1.1.35
Summary
This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
Orthologs
Proteins
| hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursor | |
|---|---|
| Refseq ID | NP_001171634 |
| Protein GI | 296179427 |
| UniProt ID | Q16836 |
| mRNA ID | NM_001184705 |
| Length | 331 |
| RefSeq Status | REVIEWED |
| MAFVTRQFMRSVSSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTEDILAKSKKGIEESLRKVAKKKFAENPKAGDEFVEKTLSTIATSTDAASVVHSTDLVVEAIVENLKVKNELFKRLDKFAAEHTIFASNTSSLQITSIANATTRQDRFAGLHFFNPVPVMKLVEVIKTPMTSQKTFESLVDFSKALGKHPVSCKDTPGFIVNRLLVPYLMEAIRLYERDFQTCGDSNSGLGFSLKGDASKEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEMDAENPLHQPSPSLNKLVAENKFGKKTGEGFYKYK | |
| hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor | |
|---|---|
| Refseq ID | NP_005318 |
| Protein GI | 296179429 |
| UniProt ID | Q16836 |
| mRNA ID | NM_005327 |
| Length | 314 |
| RefSeq Status | REVIEWED |
| MAFVTRQFMRSVSSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTEDILAKSKKGIEESLRKVAKKKFAENPKAGDEFVEKTLSTIATSTDAASVVHSTDLVVEAIVENLKVKNELFKRLDKFAAEHTIFASNTSSLQITSIANATTRQDRFAGLHFFNPVPVMKLVEVIKTPMTSQKTFESLVDFSKALGKHPVSCKDTPGFIVNRLLVPYLMEAIRLYERGDASKEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEMDAENPLHQPSPSLNKLVAENKFGKKTGEGFYKYK | |
| transit_peptide: 1..12 calculated_mol_wt: 1473 peptide sequence: MAFVTRQFMRSV mat_peptide: 13..331 product: hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 calculated_mol_wt: 34581 peptide sequence: SSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTEDILAKSKKGIEESLRKVAKKKFAENPKAGDEFVEKTLSTIATSTDAASVVHSTDLVVEAIVENLKVKNELFKRLDKFAAEHTIFASNTSSLQITSIANATTRQDRFAGLHFFNPVPVMKLVEVIKTPMTSQKTFESLVDFSKALGKHPVSCKDTPGFIVNRLLVPYLMEAIRLYERDFQTCGDSNSGLGFSLKGDASKEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEMDAENPLHQPSPSLNKLVAENKFGKKTGEGFYKYK transit_peptide: 1..12 calculated_mol_wt: 1473 peptide sequence: MAFVTRQFMRSV mat_peptide: 13..314 product: hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 calculated_mol_wt: 32823 peptide sequence: SSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTEDILAKSKKGIEESLRKVAKKKFAENPKAGDEFVEKTLSTIATSTDAASVVHSTDLVVEAIVENLKVKNELFKRLDKFAAEHTIFASNTSSLQITSIANATTRQDRFAGLHFFNPVPVMKLVEVIKTPMTSQKTFESLVDFSKALGKHPVSCKDTPGFIVNRLLVPYLMEAIRLYERGDASKEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEMDAENPLHQPSPSLNKLVAENKFGKKTGEGFYKYK | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005737 | IDA:LIFEdb | C | cytoplasm |
| GO:0005743 | IEA:Ensembl | C | mitochondrial inner membrane |
| GO:0005759 | TAS:Reactome | C | mitochondrial matrix |
| GO:0005739 | IDA:HPA | C | mitochondrion |
| GO:0005634 | IDA:HPA | C | nucleus |
| GO:0003857 | TAS:Reactome | F | 3-hydroxyacyl-CoA dehydrogenase activity |
| GO:0070403 | IEA:InterPro | F | NAD+ binding |
| GO:0044255 | TAS:Reactome | P | cellular lipid metabolic process |
| GO:0006635 | TAS:Reactome | P | fatty acid beta-oxidation |
| GO:0046676 | IEA:Ensembl | P | negative regulation of insulin secretion |
| GO:0014823 | IEA:Ensembl | P | response to activity |
| GO:0042493 | IEA:Ensembl | P | response to drug |
| GO:0032868 | IEA:Ensembl | P | response to insulin |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR022694 | 3-hydroxyacyl-CoA dehydrogenase |
| IPR006108 | 3-hydroxyacyl-CoA dehydrogenase, C-terminal |
| IPR006176 | 3-hydroxyacyl-CoA dehydrogenase, NAD binding |
| IPR006180 | 3-hydroxyacyl-CoA dehydrogenase, conserved site |
| IPR008927 | 6-phosphogluconate dehydrogenase, C-terminal-like |
| IPR013328 | Dehydrogenase, multihelical |
| IPR016040 | NAD(P)-binding domain |
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q16836-1; Sequence=Displayed; Name=2; IsoId=Q16836-2; Sequence=VSP_016551, VSP_016552; Note=Ref.2 (AAB58153) sequence is in conflict in positions: 41:L->P, 56:R->H. ; Name=3; IsoId=Q16836-3; Sequence=VSP_016552; Note=No experimental confirmation available.; |
| Catalytic Activity | (S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH. |
| Disease | 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM |
| Disease | Familial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM |
| Function | Plays an essential role in the mitochondrial beta- oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA. |
| Pathway | Lipid metabolism; fatty acid beta-oxidation. |
| Ptm | Succinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity). |
| Similarity | Belongs to the 3-hydroxyacyl-CoA dehydrogenase family. |
| Subcellular Location | Mitochondrion matrix. |
| Subunit | Homodimer. {ECO |
| Tissue Specificity | Expressed in liver, kidney, pancreas, heart and skeletal muscle. |
Identical and Related Proteins
Unique RefSeq proteins for LMP002407 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 296179427 | RefSeq | NP_001171634 | 331 | hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursor |
| 296179429 | RefSeq | NP_005318 | 314 | hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor |
Identical Sequences to LMP002407 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:296179429 | DBBJ | BAI46993.1 | 314 | hydroxyacyl-Coenzyme A dehydrogenase, partial [synthetic construct] |
| GI:296179429 | EMBL | CAL37830.1 | 314 | hypothetical protein, partial [synthetic construct] |
| GI:296179429 | EMBL | CAL38133.1 | 314 | hypothetical protein, partial [synthetic construct] |
| GI:296179429 | GenBank | AAH00306.1 | 314 | Hydroxyacyl-Coenzyme A dehydrogenase [Homo sapiens] |
| GI:296179429 | GenBank | ABM82345.1 | 314 | L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain [synthetic construct] |
| GI:296179429 | GenBank | ABM85519.1 | 314 | L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain, partial [synthetic construct] |
Related Sequences to LMP002407 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:296179427 | GenBank | AAB54009.1 | 390 | 3-hydroxyacyl-CoA dehydrogenase, isoform 2 [Homo sapiens] |
| GI:296179427 | GenBank | EAX06218.1 | 390 | L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain, isoform CRA_a [Homo sapiens] |
| GI:296179429 | GenBank | EAX06219.1 | 373 | L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain, isoform CRA_b [Homo sapiens] |
| GI:296179429 | GenBank | ACM81647.1 | 343 | Sequence 7145 from patent US 6812339 |
| GI:296179427 | GenBank | ACP56992.1 | 390 | Sequence 1121 from patent US 7482117 |
| GI:296179429 | GenBank | ACP56993.1 | 373 | Sequence 1122 from patent US 7482117 |
| GI:296179429 | GenBank | ACP56995.1 | 314 | Sequence 1124 from patent US 7482117 |
| GI:296179427 | GenBank | ADS30589.1 | 390 | Sequence 1121 from patent US 7781168 |
| GI:296179429 | GenBank | ADS30590.1 | 373 | Sequence 1122 from patent US 7781168 |
| GI:296179429 | GenBank | ADS30592.1 | 314 | Sequence 1124 from patent US 7781168 |
| GI:296179427 | RefSeq | XP_003257779.1 | 390 | PREDICTED: hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 [Nomascus leucogenys] |
| GI:296179427 | RefSeq | XP_004040300.1 | 390 | PREDICTED: hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 [Gorilla gorilla gorilla] |