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ALDH6A1

ALDH Gene Record


Summary for ALDH6A1
Trivial Names & Synonyms
Database Accession ID's
Molecular Features
Polymorphisms
Substrates and Kinetic Values
Tissue Expression & Cellular Localization
Reference List

ALDH6A1

Summary for ALDH6A1:

ALDH6A1 encodes a mitochondrial tetramer (~ 57.8 kDa subunits) also known as acetyl CoA-dependent methylmalonate semialdehyde dehydrogenase. This enzyme is responsible for catalyzing the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA (1527093) .

ALDH6A1 is unique among ALDH\'s because it is CoA-dependent. Like other ALDH\'s ALDH6A1 also retains esterase activity allowing it to hydrolyze p-nitrophenyl acetate with concomitant formation of an S-acyl enzyme and in the presence of CoA will generate acetyl-CoA (1527093) .

A deficiency in ALDH6A1 activity is characterized by elevated levels in urine of beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids (10947204) .

 
 

Trivial Names and Synonyms for ALDH6A1:

Methylmalonate semialdehyde dehydrogenase,    Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial precursor,    MMSDH
 
 

Database Accession ID's for ALDH6A1:

Species Gene-related Accession ID's Transcript-related Accession ID's Protein-related Accession ID's
Homo sapiens
(Human)
Institute Database Accession No.
NCBICCDS9826.1
NCBIEntrez Gene4329
NCBIGenBankNC_000014
NCBIOMIM603178
NCBIUniGene293970
HUGOHGNC7179
EBI, WTSIEnsembl - GeneViewENSG00000119711
Institute Database Accession No.
NCBIGenBankNM_005589
EBI, WTSIEnsembl - TransViewENST00000350259
Institute Database Accession No.
NCBIAceViewALDH6A1.aApr07, ALDH6A1.cApr07, ALDH6A1.bApr07, ALDH6A1.jApr07
NCBIEntrez ProteinNP_005580
EBI, WTSIEnsembl - ProtViewENSP00000342564
EBI, SIB, PIRUniProtQ02252, Q53H94, O43573, Q53FN8
 
Species Gene-related Accession ID's Transcript-related Accession ID's Protein-related Accession ID's
Mus musculus
(House mouse)
Institute Database Accession No.
NCBIEntrez Gene104776
NCBIGenBankNC_000078
NCBIUniGene247510
JLMGI1915077
EBI, WTSIEnsembl - GeneViewENSMUSG00000021238
Institute Database Accession No.
NCBIGenBankNM_134042
EBI, WTSIEnsembl - TransViewENSMUST00000085192
Institute Database Accession No.
NCBIEntrez ProteinNP_598803
EBI, WTSIEnsembl - ProtViewENSMUSP00000082288, ENSMUSP00000021664
EBI, SIB, PIRUniProtQ8K0L1
 
Species Gene-related Accession ID's Transcript-related Accession ID's Protein-related Accession ID's
Rattus norvegicus
(Norway rat)
Institute Database Accession No.
NCBIEntrez Gene81708
NCBIGenBankNC_005105
NCBIUniGene2098
MCWRGD621556
EBI, WTSIEnsembl - GeneViewENSRNOG00000011419
Institute Database Accession No.
NCBIGenBankNM_031057
EBI, WTSIEnsembl - TransViewENSRNOT00000015545
Institute Database Accession No.
NCBIEntrez ProteinNP_112319
EBI, WTSIEnsembl - ProtViewENSRNOP00000015545
EBI, SIB, PIRUniProtQ02253
 
 
 

Molecular Features for ALDH6A1:

Species  
Homo sapiens
(Human)
Chromosome Locus : 14 q 24.3 (- strand)
 

 
ALDH6A1_v1     (Alternative Splice Variant 1) Number of Exons for ALDH6A1_v1 :   12 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 1
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 1
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENST00000350259 2161 ENSP00000342564 535 57840 8.72 Click Here for Graphical and Tabular Details

NM_005589 2183 NP_005580 535 57840 8.72 Click Here for Graphical and Tabular Details

ALDH6A1.aApr07 5482 ALDH6A1.aApr07 535 57840 8.72 Click Here for Graphical and Tabular Details

 
 
ALDH6A1_v2     (Alternative Splice Variant 2) Number of Exons for ALDH6A1_v2 :   7 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 2
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 2
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ALDH6A1.bApr07 1627 ALDH6A1.bApr07 252 27025 7.68 Click Here for Graphical and Tabular Details

 
 
ALDH6A1_v3     (Alternative Splice Variant 3) Number of Exons for ALDH6A1_v3 :   5 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 3
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 3
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ALDH6A1.cApr07 991 ALDH6A1.cApr07 179 19631 9.84 Click Here for Graphical and Tabular Details

 
 
ALDH6A1_v4     (Alternative Splice Variant 4) Number of Exons for ALDH6A1_v4 :   4 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 4
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 4
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ALDH6A1.jApr07 724 ALDH6A1.jApr07 117 12751 9.93 Click Here for Graphical and Tabular Details

 
Species  
Mus musculus
(House mouse)
Chromosome Locus : 12 1 D (- strand)
 

 
ALDH6A1_v1     (Alternative Splice Variant 1) Number of Exons for ALDH6A1_v1 :   12 Click Here for Mus musculus Transcript Sequences for Alternative Splice Variant 1
Click Here for Mus musculus Peptide Sequences for Alternative Splice Variant 1
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENSMUST00000085192 2265 ENSMUSP00000082288 535 57916 8.28 Click Here for Graphical and Tabular Details

NM_134042 3346 NP_598803 535 57916 8.28 Click Here for Graphical and Tabular Details

 
Species  
Rattus norvegicus
(Norway rat)
Chromosome Locus : 6 q 31 (- strand)
 

 
ALDH6A1_v1     (Alternative Splice Variant 1) Number of Exons for ALDH6A1_v1 :   12 Click Here for Rattus norvegicus Transcript Sequences for Alternative Splice Variant 1
Click Here for Rattus norvegicus Peptide Sequences for Alternative Splice Variant 1
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
NM_031057 3333 NP_112319 535 57748 8.44 Click Here for Graphical and Tabular Details

 
 
ALDH6A1_v?     (Alternative Splice Variant Unknown or To Be Determined) Number of Exons : N/A Click Here for Rattus norvegicus Transcript Sequences for Unknown Variants
Click Here for Rattus norvegicus Peptide Sequences for Unknown Variants
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENSRNOT00000015545 1925 ENSRNOP00000015545 537 57920 8.31 Click Here for Graphical and Tabular Details

Transcript : Transcript sequence could not be aligned to genomic sequence. Further analysis required for exon structure and sequence integrity.

 
 
 

Polymorphisms for ALDH6A1:

Currently Under Development
 
 

Substrates, Inhibitors and Enzyme Kinetics for ALDH6A1:

 
 

Tissue Expression & Cellular Localization for ALDH6A1:

Currently Under Development
 
 

Reference List for ALDH6A1:

ALDH6A1 Year Authors Title Journal Pubmed ID
2000 Kedishvili, Goodwin, Popov, Harris
Mammalian methylmalonate-semialdehyde dehydrogenase. Methods Enzymol 10989432
 
2000 Chambliss, Gray, Rylance, Pollitt, Gibson
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis 10947204
 
1992 Kedishvili, Popov, Rougraff, Zhao, Crabb, Harris
CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution. J Biol Chem 1527093
 
 
 

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