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ALDH7A1 aldehyde dehydrogenase 7 family, member A1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001182 Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001201377 Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001202404 Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol ALDH7A1
Entrez Gene ID 501
Full Name aldehyde dehydrogenase 7 family, member A1
Synonyms ATQ1, EPD, PDE
General protein information
Preferred Names
alpha-aminoadipic semialdehyde dehydrogenase
Names
alpha-aminoadipic semialdehyde dehydrogenase
antiquitin-1
P6c dehydrogenase
alpha-AASA dehydrogenase
26g turgor protein homolog
betaine aldehyde dehydrogenase
delta1-piperideine-6-carboxylate dehydrogenase
NP_001173.2
NP_001188306.1
NP_001189333.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5q31

Summary The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011].
Disorder

MIM: 107323

Epilepsy, pyridoxine-dependent, 266100 (3)

mRNA Protein Product Sequence Price Select
NM_001182, 319655559 NP_001173, 188035924 alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor ORF Sequence $550.00
NM_001201377, 319655560 NP_001188306, 319655561 alpha-aminoadipic semialdehyde dehydrogenase isoform 2 ORF Sequence $360.00
NM_001202404, 320202963 NP_001189333, 320202964 alpha-aminoadipic semialdehyde dehydrogenase isoform 3 ORF Sequence $550.00
KEGG
hsa00010Glycolysis / Gluconeogenesis
hsa00340Histidine metabolism
hsa00330Arginine and proline metabolism
hsa00640Propanoate metabolism
hsa00053Ascorbate and aldarate metabolism
hsa00071Fatty acid degradation
hsa00260Glycine, serine and threonine metabolism
hsa00310Lysine degradation
hsa00561Glycerolipid metabolism
hsa00300Lysine biosynthesis
hsa00620Pyruvate metabolism
hsa00380Tryptophan metabolism
hsa00280Valine, leucine and isoleucine degradation
hsa00410beta-Alanine metabolism
hsa_M00135GABA biosynthesis, eukaryotes, putrescine => GABA
hsa_M00032Lysine degradation, lysine => saccharopine => acetoacetyl-CoA
hsa01230Biosynthesis of amino acids
BIOCYC
META_CHOLINE-BETAINE-ANA-PWYcholine degradation I
HUMAN_LYSINE-DEG1-PWYlysine degradation II
Reactome
REACT_13Metabolism of amino acids and derivatives
REACT_1298Lysine catabolism
REACT_111217Metabolism
Homo sapiens (human)ALDH7A1NP_001173.2
Pan troglodytes (chimpanzee)ALDH7A1XP_001157473.2
Macaca mulatta (Rhesus monkey)ALDH7A1XP_001095681.2
Canis lupus familiaris (dog)ALDH7A1XP_538607.3
Bos taurus (cattle)ALDH7A1NP_001039434.2
Mus musculus (house mouse)Aldh7a1NP_613066.2
Rattus norvegicus (Norway rat)Aldh7a1NP_001258034.1
Gallus gallus (chicken)ALDH7A1XP_424422.2
Danio rerio (zebrafish)aldh7a1NP_997889.1
Drosophila melanogaster (fruit fly)CG9629NP_649099.1
Caenorhabditis elegansalh-9NP_498263.2
Arabidopsis thaliana (thale cress)ALDH7B4NP_175812.1
Xenopus (Silurana) tropicalis (western clawed frog)aldh7a1NP_001016377.1
Process
IDNameEvidence
GO:0006081cellular aldehyde metabolic processISS
GO:0006554lysine catabolic processTAS
GO:0007605sensory perception of soundTAS
GO:0019285glycine betaine biosynthetic process from cholineIEA
GO:0034641cellular nitrogen compound metabolic processTAS
GO:0044281small molecule metabolic processTAS
GO:0055114oxidation-reduction processIEA
Component
IDNameEvidence
GO:0005634nucleusIEA
GO:0005737cytoplasmIDA
GO:0005739mitochondrionIDA
GO:0005759mitochondrial matrixTAS
GO:0005829cytosolIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004029aldehyde dehydrogenase (NAD) activityISS
GO:0004043L-aminoadipate-semialdehyde dehydrogenase activityEXP
GO:0005515protein bindingIPI
GO:0008802betaine-aldehyde dehydrogenase activityIEA
GeneCards ALDH7A1
UniProt P49419
Vega OTTHUMG00000128942
MIM 107323
Ensembl ENSG00000164904
HGNC 877
HPRD 00124

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the ALDH7A1 gene?

The ALDH7A1 gene is a member of the aldehyde dehydrogenase (ALDH) gene family. These genes provide instructions for producing enzymes that alter molecules called aldehydes. The ALDH7A1 gene provides instructions for making an enzyme called α-aminoadipic semialdehyde (α-AASA) dehydrogenase, also known as antiquitin. Within the cell, antiquitin is found in the internal fluid of the cell (cytosol) and in the nucleus. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain. In one step in the breakdown of lysine to other molecules, antiquitin facilitates the conversion of α-aminoadipic semialdehyde to α-aminoadipate. The breakdown of lysine in the brain is necessary for energy production and to produce other needed molecules.

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