MGP Database

MGP000254

Record overview

MGPD ID	MGP000254
Gene ID	501
Species	Homo sapiens (Human)
Gene Name	aldehyde dehydrogenase 7 family, member A1
Gene Symbol	ALDH7A1
Synonyms	EPD; PDE; ATQ1;
Alternate names	alpha-aminoadipic semialdehyde dehydrogenase; 26g turgor protein homolog; P6c dehydrogenase; alpha-AASA dehydrogenase; antiquitin-1; betaine aldehyde dehydrogenase; delta1-piperideine-6-carboxylate dehydrogenase;
Chromosome	5
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:

MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWK
IWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAV
YGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGN
NAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGK
VMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEK
HTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ

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: 
AFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQ
VLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLI
SVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTA
GQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHT
ETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINY
SKDLPLAQGIKFQ

alpha-aminoadipic semialdehyde dehydrogenase isoform 2

Refseq ID:	NP_001188306
Protein GI:	319655561
UniProt ID:	P49419
mRNA ID:	NM_001201377
Length:	511
RefSeq Status:

MSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVL
GSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISV
AVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQ
RCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHTET
FAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSK
DLPLAQGIKFQ

alpha-aminoadipic semialdehyde dehydrogenase isoform 3

Refseq ID:	NP_001189333
Protein GI:	320202964
UniProt ID:	P49419
mRNA ID:	NM_001202404
Length:	502
RefSeq Status:

MGSPGRGAGLYFSSSQGLGLIPSPGLSMWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPAN
NEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSER
SGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFT
GSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLVMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFK
FKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIK
FQ

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: 
AFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQ
VLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLI
SVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTA
GQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHT
ETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINY
SKDLPLAQGIKFQ