MGP Database

MGP003635

Record overview

MGPD IDMGP003635
Gene ID8659
SpeciesHomo sapiens (Human)
Gene Namealdehyde dehydrogenase 4 family, member A1
Gene Symbol ALDH4A1
SynonymsP5CD; ALDH4; P5CDh;
Alternate namesdelta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; L-glutamate gamma-semialdehyde dehydrogenase; P5C dehydrogenase; aldehyde dehydrogenase family 4 member A1; mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase;
Chromosome1
Map Location1p36
EC Number1.2.1.88
SummaryThis protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]
OrthologsView orthologs and multiple alignments for ALDH4A1

Proteins

delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor
Refseq ID:NP_003739
Protein GI:25777734
UniProt ID:P30038
mRNA ID:NM_003748
Length:563
RefSeq Status:
MLLPAPALRRALLSRPWTGAGLRWKHTSSLKVANEPVLAFTQGSPERDALQKALKDLKGRMEAIPCVVGDEEVWTSDVQYQVSPFNHGHKVAKFCYADKS
LLNKAIEAALAARKEWDLKPIADRAQIFLKAADMLSGPRRAEILAKTMVGQGKTVIQAEIDAAAELIDFFRFNAKYAVELEGQQPISVPPSTNSTVYRGL
EGFVAAISPFNFTAIGGNLAGAPALMGNVVLWKPSDTAMLASYAVYRILREAGLPPNIIQFVPADGPLFGDTVTSSEHLCGINFTGSVPTFKHLWKQVAQ
NLDRFHTFPRLAGECGGKNFHFVHRSADVESVVSGTLRSAFEYGGQKCSACSRLYVPHSLWPQIKGRLLEEHSRIKVGDPAEDFGTFFSAVIDAKSFARI
KKWLEHARSSPSLTILAGGKCDDSVGYFVEPCIVESKDPQEPIMKEEIFGPVLSVYVYPDDKYKETLQLVDSTTSYGLTGAVFSQDKDVVQEATKVLRNA
AGNFYINDKSTGSIVGQQPFGGARASGTNDKPGGPHYILRWTSPQVIKETHKPLGDWSYAYMQ
 
transit_peptide: 1..24
calculated_mol_wt: 2703
peptide sequence: 
MLLPAPALRRALLSRPWTGAGLRW

mat_peptide: 25..563
product: delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a
calculated_mol_wt: 59034
peptide sequence: 
KHTSSLKVANEPVLAFTQGSPERDALQKALKDLKGRMEAIPCVVGDEEVWTSDVQYQVSPFNHGHKVAKFCYADKSLLNKAIEAALAARKEWDLKPIADR
AQIFLKAADMLSGPRRAEILAKTMVGQGKTVIQAEIDAAAELIDFFRFNAKYAVELEGQQPISVPPSTNSTVYRGLEGFVAAISPFNFTAIGGNLAGAPA
LMGNVVLWKPSDTAMLASYAVYRILREAGLPPNIIQFVPADGPLFGDTVTSSEHLCGINFTGSVPTFKHLWKQVAQNLDRFHTFPRLAGECGGKNFHFVH
RSADVESVVSGTLRSAFEYGGQKCSACSRLYVPHSLWPQIKGRLLEEHSRIKVGDPAEDFGTFFSAVIDAKSFARIKKWLEHARSSPSLTILAGGKCDDS
VGYFVEPCIVESKDPQEPIMKEEIFGPVLSVYVYPDDKYKETLQLVDSTTSYGLTGAVFSQDKDVVQEATKVLRNAAGNFYINDKSTGSIVGQQPFGGAR
ASGTNDKPGGPHYILRWTSPQVIKETHKPLGDWSYAYMQ transit_peptide: 1..24 calculated_mol_wt: 2703 peptide sequence: MLLPAPALRRALLSRPWTGAGLRW mat_peptide: 25..563 product: delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a calculated_mol_wt: 59034 peptide sequence: KHTSSLKVANEPVLAFTQGSPERDALQKALKDLKGRMEAIPCVVGDEEVWTSDVQYQVSPFNHGHKVAKFCYADKSLLNKAIEAALAARKEWDLKPIADR
AQIFLKAADMLSGPRRAEILAKTMVGQGKTVIQAEIDAAAELIDFFRFNAKYAVELEGQQPISVPPSTNSTVYRGLEGFVAAISPFNFTAIGGNLAGAPA
LMGNVVLWKPSDTAMLASYAVYRILREAGLPPNIIQFVPADGPLFGDTVTSSEHLCGINFTGSVPTFKHLWKQVAQNLDRFHTFPRLAGECGGKNFHFVH
RSADVESVVSGTLRSAFEYGGQKCSACSRLYVPHSLWPQIKGRLLEEHSRIKVGDPAEDFGTFFSAVIDAKSFARIKKWLEHARSSPSLTILAGGKCDDS
VGYFVEPCIVESKDPQEPIMKEEIFGPVLSVYVYPDDKYKETLQLVDSTTSYGLTGAVFSQDKDVVQEATKVLRNAAGNFYINDKSTGSIVGQQPFGGAR
ASGTNDKPGGPHYILRWTSPQVIKETHKPLGDWSYAYMQ
 
delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor
Refseq ID:NP_733844
Protein GI:25777736
UniProt ID:P30038
mRNA ID:NM_170726
Length:563
RefSeq Status:
Protein sequence is identical to GI:25777734 (mRNA isoform)
 
transit_peptide: 1..24
calculated_mol_wt: 2703
peptide sequence: 
MLLPAPALRRALLSRPWTGAGLRW

mat_peptide: 25..563
product: delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a
calculated_mol_wt: 59034
peptide sequence: 
KHTSSLKVANEPVLAFTQGSPERDALQKALKDLKGRMEAIPCVVGDEEVWTSDVQYQVSPFNHGHKVAKFCYADKSLLNKAIEAALAARKEWDLKPIADR
AQIFLKAADMLSGPRRAEILAKTMVGQGKTVIQAEIDAAAELIDFFRFNAKYAVELEGQQPISVPPSTNSTVYRGLEGFVAAISPFNFTAIGGNLAGAPA
LMGNVVLWKPSDTAMLASYAVYRILREAGLPPNIIQFVPADGPLFGDTVTSSEHLCGINFTGSVPTFKHLWKQVAQNLDRFHTFPRLAGECGGKNFHFVH
RSADVESVVSGTLRSAFEYGGQKCSACSRLYVPHSLWPQIKGRLLEEHSRIKVGDPAEDFGTFFSAVIDAKSFARIKKWLEHARSSPSLTILAGGKCDDS
VGYFVEPCIVESKDPQEPIMKEEIFGPVLSVYVYPDDKYKETLQLVDSTTSYGLTGAVFSQDKDVVQEATKVLRNAAGNFYINDKSTGSIVGQQPFGGAR
ASGTNDKPGGPHYILRWTSPQVIKETHKPLGDWSYAYMQ
 
delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform b
Refseq ID:NP_001154976
Protein GI:238859541
UniProt ID:P30038
mRNA ID:NM_001161504
Length:503
RefSeq Status:
MEAIPCVVGDEEVWTSDVQYQVSPFNHGHKVAKFCYADKSLLNKAIEAALAARKEWDLKPIADRAQIFLKAADMLSGPRRAEILAKTMVGQGKTVIQAEI
DAAAELIDFFRFNAKYAVELEGQQPISVPPSTNSTVYRGLEGFVAAISPFNFTAIGGNLAGAPALMGNVVLWKPSDTAMLASYAVYRILREAGLPPNIIQ
FVPADGPLFGDTVTSSEHLCGINFTGSVPTFKHLWKQVAQNLDRFHTFPRLAGECGGKNFHFVHRSADVESVVSGTLRSAFEYGGQKCSACSRLYVPHSL
WPQIKGRLLEEHSRIKVGDPAEDFGTFFSAVIDAKSFARIKKWLEHARSSPSLTILAGGKCDDSVGYFVEPCIVESKDPQEPIMKEEIFGPVLSVYVYPD
DKYKETLQLVDSTTSYGLTGAVFSQDKDVVQEATKVLRNAAGNFYINDKSTGSIVGQQPFGGARASGTNDKPGGPHYILRWTSPQVIKETHKPLGDWSYA
YMQ
 
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