MGP Database

MGP003635

Record overview

MGPD ID	MGP003635
Gene ID	8659
Species	Homo sapiens (Human)
Gene Name	aldehyde dehydrogenase 4 family, member A1
Gene Symbol	ALDH4A1
Synonyms	P5CD; ALDH4; P5CDh;
Alternate names	delta-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;
Chromosome	1
Map Location	1p36
EC Number	1.2.1.88
Summary	This 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]
Orthologs	View 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