LIPID MAPS

Gene/Proteome Database (LMPD)

LMPD ID

LMP000347

Gene ID

501

Species

Homo sapiens (Human)

Gene Name

aldehyde dehydrogenase 7 family, member A1

Gene Symbol

ALDH7A1

Synonyms

ATQ1; EPD; PDE

Alternate Names

alpha-aminoadipic semialdehyde dehydrogenase; antiquitin-1; P6c dehydrogenase; alpha-AASA dehydrogenase; 26g turgor protein homolog; betaine aldehyde dehydrogenase; delta1-piperideine-6-carboxylate dehydrogenase

Chromosome

Map Location

5q31

EC Number

1.2.1.31

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]

Orthologs

View orthologs and multiple alignments for ALDH7A1

Proteins

alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor
Refseq ID	NP_001173
Protein GI	188035924
UniProt ID	P49419
mRNA ID	NM_001182
Length	539
RefSeq Status	REVIEWED
MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ

alpha-aminoadipic semialdehyde dehydrogenase isoform 2
Refseq ID	NP_001188306
Protein GI	319655561
UniProt ID	P49419
mRNA ID	NM_001201377
Length	511
RefSeq Status	REVIEWED
MSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ

alpha-aminoadipic semialdehyde dehydrogenase isoform 3
Refseq ID	NP_001189333
Protein GI	319655561
UniProt ID	P49419
mRNA ID	NM_001202404
Length	511
RefSeq Status	REVIEWED
MSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ
transit_peptide: 1..26 inference: non-experimental evidence, no additional details recorded note: Mitochondrion (Potential); propagated from UniProtKB/Swiss-Prot (P49419.5) calculated_mol_wt: 2921 peptide sequence: MWRLPRALCVHAAKTSKLSGPWSRPA mat_peptide: 27..539 product: Alpha-aminoadipic semialdehyde dehydrogenase experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (P49419.5) calculated_mol_wt: 55585 peptide sequence: AFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ

Gene Information

Entrez Gene ID

501

Gene Name

aldehyde dehydrogenase 7 family, member A1

Gene Symbol

ALDH7A1

Species

Homo sapiens

Gene Ontology (GO Annotations)

GO ID	Source	Type	Description
GO:0005737	IDA:HPA	C	cytoplasm
GO:0070062	IDA:UniProtKB	C	extracellular vesicular exosome
GO:0005759	TAS:Reactome	C	mitochondrial matrix
GO:0005739	IDA:HPA	C	mitochondrion
GO:0005634	IEA:UniProtKB-KW	C	nucleus
GO:0004043	EXP:Reactome	F	L-aminoadipate-semialdehyde dehydrogenase activity
GO:0004029	ISS:UniProtKB	F	aldehyde dehydrogenase (NAD) activity
GO:0008802	IEA:UniProtKB-EC	F	betaine-aldehyde dehydrogenase activity
GO:0006081	ISS:UniProtKB	P	cellular aldehyde metabolic process
GO:0034641	TAS:Reactome	P	cellular nitrogen compound metabolic process
GO:0019285	IEA:UniProtKB-UniPathway	P	glycine betaine biosynthetic process from choline
GO:0006554	TAS:Reactome	P	lysine catabolic process
GO:0007605	TAS:ProtInc	P	sensory perception of sound
GO:0044281	TAS:Reactome	P	small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID	Description
hsa01230	Biosynthesis of amino acids
hsa00260	Glycine, serine and threonine metabolism
hsa00010	Glycolysis / Gluconeogenesis

Domain Information

InterPro Annotations

Accession	Description
IPR016162	Aldehyde dehydrogenase N-terminal domain
IPR015590	Aldehyde dehydrogenase domain
IPR016163	Aldehyde dehydrogenase, C-terminal
IPR029510	Aldehyde dehydrogenase, glutamic acid active site
IPR016161	Aldehyde/histidinol dehydrogenase

UniProt Annotations

Entry Information

Gene Name

aldehyde dehydrogenase 7 family, member A1

Protein Entry

AL7A1_HUMAN

UniProt ID

P49419

Species

Human

Comments

Comment Type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P49419-1; Sequence=Displayed; Name=2; IsoId=P49419-2; Sequence=VSP_038987; Name=3; IsoId=P49419-3; Sequence=VSP_038988; Note=No experimental confirmation available.; Name=4; IsoId=P49419-4; Sequence=VSP_045904, VSP_045905; Note=No experimental confirmation available.;
Biophysicochemical Properties	Kinetic parameters: KM=28.5 uM for nonanal ; KM=5.3 uM for trans-2-nonenal ; KM=39.1 uM for hexanal ; KM=17.5 uM for octanal ; KM=41.1 uM for betaine aldehyde ; KM=169 uM for L-2-aminoadipate 6-semialdehyde ; KM=530.2 uM for benzaldehyde ; KM=647.4 uM for propanal ; KM=7374.3 uM for glyceraldehyde ; Vmax=364.9 nmol/min/mg enzyme toward nonanal ; Vmax=34.9 nmol/min/mg enzyme toward trans-2-nonenal ; Vmax=243.3 nmol/min/mg enzyme toward hexanal ; Vmax=72.3 nmol/min/mg enzyme toward octanal ; Vmax=101.4 nmol/min/mg enzyme toward betaine aldehyde ; Vmax=276.2 nmol/min/mg enzyme toward L-2-aminoadipate 6- semialdehyde ; Vmax=125.2 nmol/min/mg enzyme toward benzaldehyde ; Vmax=69.9 nmol/min/mg enzyme toward propanal ; Vmax=174 nmol/min/mg enzyme toward glyceraldehyde ;
Catalytic Activity	(S)-2-amino-6-oxohexanoate + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)H.
Catalytic Activity	An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
Catalytic Activity	Betaine aldehyde + NAD(+) + H(2)O = betaine + NADH.
Disease	Pyridoxine-dependent epilepsy (PDE) [MIM
Function	Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.
Interaction	Q12929:EPS8; NbExp=2; IntAct=EBI-726842, EBI-375576;
Pathway	Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde: step 1/1.
Sequence Caution	Sequence=AAC51935.1; Type=Frameshift; Positions=233, 268; Evidence= ; Sequence=AAH02515.3; Type=Erroneous initiation; Evidence= ; Sequence=AAH71712.1; Type=Erroneous initiation; Evidence= ; Sequence=AAH73174.1; Type=Erroneous initiation; Evidence= ; Sequence=BAG35366.1; Type=Erroneous initiation; Evidence= ;
Similarity	Belongs to the aldehyde dehydrogenase family.
Subcellular Location	Isoform 2: Cytoplasm, cytosol.
Subcellular Location	Mitochondrion . Nucleus .
Subunit	Homotetramer.
Tissue Specificity	Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.

Identical and Related Proteins

Unique RefSeq proteins for LMP000347 (as displayed in Record Overview)

Protein GI	Database	Accession	Length	Protein Name
188035924	RefSeq	NP_001173	539	alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor
319655561	RefSeq	NP_001188306	511	alpha-aminoadipic semialdehyde dehydrogenase isoform 2
319655561	RefSeq	NP_001189333	511	alpha-aminoadipic semialdehyde dehydrogenase isoform 3

Identical Sequences to LMP000347 proteins

Reference	Database	Accession	Length	Protein Name
GI:319655561	DBBJ	BAG35366.1	511	unnamed protein product [Homo sapiens]
GI:319655561	DBBJ	BAG35366.1	511	unnamed protein product [Homo sapiens]
GI:319655561	DBBJ	BAH24120.1	511	aldehyde dehydrogenase 7 family, member A1, partial [synthetic construct]
GI:319655561	DBBJ	BAH24120.1	511	aldehyde dehydrogenase 7 family, member A1, partial [synthetic construct]
GI:319655561	GenBank	ACM80536.1	511	Sequence 6034 from patent US 6812339
GI:319655561	GenBank	ACM80536.1	511	Sequence 6034 from patent US 6812339
GI:319655561	GenBank	ADS79826.1	511	Sequence 20 from patent US 7820400
GI:319655561	GenBank	ADS79826.1	511	Sequence 20 from patent US 7820400
GI:319655561	GenBank	AEP61112.1	511	Sequence 106 from patent US 8026065
GI:319655561	GenBank	AEP61112.1	511	Sequence 106 from patent US 8026065
GI:319655561	GenBank	AHD76906.1	511	Sequence 22039 from patent US 8586006
GI:319655561	GenBank	AHD76906.1	511	Sequence 22039 from patent US 8586006
GI:188035924	SwissProt	P49419.5	539	RecName: Full=Alpha-aminoadipic semialdehyde dehydrogenase; Short=Alpha-AASA dehydrogenase; AltName: Full=Aldehyde dehydrogenase family 7 member A1; AltName: Full=Antiquitin-1; AltName: Full=Betaine aldehyde dehydrogenase; AltName: Full=Delta1-piperideine-6-carboxylate dehydrogenase; Short=P6c dehydrogenase; Flags: Precursor [Homo sapiens]

Related Sequences to LMP000347 proteins

Reference	Database	Accession	Length	Protein Name
GI:319655561	GenBank	AAX43737.1	512	aldehyde dehydrogenase 7 family member A1, partial [synthetic construct]
GI:319655561	GenBank	AAX43737.1	512	aldehyde dehydrogenase 7 family member A1, partial [synthetic construct]
GI:319655561	GenBank	AAH02515.3	511	Aldehyde dehydrogenase 7 family, member A1 [Homo sapiens]
GI:319655561	GenBank	AAH02515.3	511	Aldehyde dehydrogenase 7 family, member A1 [Homo sapiens]
GI:319655561	GenBank	ACE86594.1	511	aldehyde dehydrogenase 7 family, member A1 protein, partial [synthetic construct]
GI:319655561	GenBank	ACE86594.1	511	aldehyde dehydrogenase 7 family, member A1 protein, partial [synthetic construct]
GI:319655561	GenBank	ACE87275.1	511	aldehyde dehydrogenase 7 family, member A1 protein [synthetic construct]
GI:319655561	GenBank	ACE87275.1	511	aldehyde dehydrogenase 7 family, member A1 protein [synthetic construct]
GI:188035924	GenBank	JAA02954.1	539	aldehyde dehydrogenase 7 family, member A1 [Pan troglodytes]
GI:188035924	GenBank	JAA11675.1	539	aldehyde dehydrogenase 7 family, member A1 [Pan troglodytes]
GI:188035924	GenBank	JAA32452.1	539	aldehyde dehydrogenase 7 family, member A1 [Pan troglodytes]
GI:188035924	GenBank	JAA33605.1	539	aldehyde dehydrogenase 7 family, member A1 [Pan troglodytes]
GI:319655561	RefSeq	NP_001173.2	539	alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor [Homo sapiens]
GI:319655561	RefSeq	NP_001173.2	539	alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor [Homo sapiens]
GI:188035924	RefSeq	XP_001157473.2	566	PREDICTED: alpha-aminoadipic semialdehyde dehydrogenase [Pan troglodytes]
GI:188035924	RefSeq	XP_003826729.1	566	PREDICTED: alpha-aminoadipic semialdehyde dehydrogenase [Pan paniscus]
GI:319655561	SwissProt	P49419.5	539	RecName: Full=Alpha-aminoadipic semialdehyde dehydrogenase; Short=Alpha-AASA dehydrogenase; AltName: Full=Aldehyde dehydrogenase family 7 member A1; AltName: Full=Antiquitin-1; AltName: Full=Betaine aldehyde dehydrogenase; AltName: Full=Delta1-piperideine-6-carboxylate dehydrogenase; Short=P6c dehydrogenase; Flags: Precursor [Homo sapiens]
GI:319655561	SwissProt	P49419.5	539	RecName: Full=Alpha-aminoadipic semialdehyde dehydrogenase; Short=Alpha-AASA dehydrogenase; AltName: Full=Aldehyde dehydrogenase family 7 member A1; AltName: Full=Antiquitin-1; AltName: Full=Betaine aldehyde dehydrogenase; AltName: Full=Delta1-piperideine-6-carboxylate dehydrogenase; Short=P6c dehydrogenase; Flags: Precursor [Homo sapiens]