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Identification
HMDB Protein ID HMDBP00156
Secondary Accession Numbers
  • 5388
  • HMDBP03803
Name Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
Synonyms
  1. Aldehyde dehydrogenase family 4 member A1
  2. P5C dehydrogenase
Gene Name ALDH4A1
Protein Type Unknown
Biological Properties
General Function Involved in oxidoreductase activity
Specific Function Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes.
Pathways
  • 2-Hydroxyglutric Aciduria (D And L Form)
  • 4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency
  • Alanine, aspartate and glutamate metabolism
  • Arginine and Proline Metabolism
  • Arginine and proline metabolism
  • Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)
  • Creatine deficiency, guanidinoacetate methyltransferase deficiency
  • Glutamate Metabolism
  • Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency)
  • Homocarnosinosis
  • Hyperinsulinism-Hyperammonemia Syndrome
  • Hyperornithinemia with gyrate atrophy (HOGA)
  • Hyperornithinemia-hyperammonemia-homocitrullinuria [HHH-syndrome]
  • Hyperprolinemia Type I
  • Hyperprolinemia Type II
  • L-arginine:glycine amidinotransferase deficiency
  • L-proline degradation into L-glutamate
  • Ornithine Aminotransferase Deficiency (OAT Deficiency)
  • Prolidase Deficiency (PD)
  • Prolinemia Type II
  • Succinic semialdehyde dehydrogenase deficiency
Reactions
1-Pyrroline-5-carboxylic acid + NAD(P)(+) + Water → L-Glutamic acid + NAD(P)H details
L-Glutamic gamma-semialdehyde + NAD + Water → L-Glutamic acid + NADH + Hydrogen Ion details
1-Pyrroline-5-carboxylic acid + NAD + Water → L-Glutamic acid + NADH + Hydrogen Ion details
1-Pyrroline-5-carboxylic acid + NADP + Water → L-Glutamic acid + NADPH + Hydrogen Ion details
Pyrroline hydroxycarboxylic acid + NAD + Water → 4-Hydroxy-L-glutamic acid + NADH + Hydrogen Ion details
Pyrroline hydroxycarboxylic acid + NADP + Water → 4-Hydroxy-L-glutamic acid + NADPH + Hydrogen Ion details
4-Hydroxy-L-glutamic acid + NADH + Hydrogen Ion → L-4-Hydroxyglutamate semialdehyde + NAD + Water details
GO Classification
Biological Process
cellular nitrogen compound metabolic process
4-hydroxyproline catabolic process
proline biosynthetic process
proline catabolic process
proline catabolic process to glutamate
Cellular Component
mitochondrial matrix
Component
cell part
intracellular part
cytoplasmic part
mitochondrial part
mitochondrial matrix
Function
catalytic activity
oxidoreductase activity, acting on the ch-nh group of donors
oxidoreductase activity, acting on the ch-nh group of donors, nad or nadp as acceptor
1-pyrroline-5-carboxylate dehydrogenase activity
oxidoreductase activity
Molecular Function
electron carrier activity
aldehyde dehydrogenase (NAD) activity
1-pyrroline-5-carboxylate dehydrogenase activity
Process
metabolic process
cellular metabolic process
glutamine family amino acid metabolic process
proline metabolic process
proline biosynthetic process
oxidation reduction
cellular amino acid and derivative metabolic process
cellular amino acid metabolic process
Cellular Location
  1. Mitochondrion matrix
Gene Properties
Chromosome Location 1
Locus 1p36
SNPs ALDH4A1
Gene Sequence
>1692 bp
ATGCTGCTGCCGGCGCCCGCGCTCCGCCGCGCCCTGCTGTCCCGCCCCTGGACCGGGGCC
GGCCTGCGGTGGAAGCACACCTCCTCCCTGAAGGTGGCCAACGAGCCCGTCTTAGCCTTC
ACGCAGGGCAGCCCTGAGCGAGATGCCCTGCAAAAGGCCTTGAAGGACCTGAAGGGCCGG
ATGGAAGCCATCCCATGCGTGGTGGGGGATGAGGAGGTGTGGACGTCGGACGTGCAGTAC
CAAGTGTCGCCTTTTAACCATGGACATAAGGTGGCCAAGTTCTGTTATGCAGACAAGAGC
CTGCTCAACAAAGCCATTGAGGCTGCCCTGGCTGCCCGGAAAGAGTGGGACCTGAAGCCT
ATTGCAGACCGGGCCCAGATCTTCCTGAAGGCGGCAGACATGCTGAGTGGGCCGCGCAGG
GCTGAGATCCTCGCCAAGACCATGGTGGGACAGGGTAAGACCGTGATCCAAGCGGAGATT
GACGCTGCAGCGGAACTCATCGACTTCTTCCGGTTCAATGCCAAGTATGCGGTGGAGCTG
GAGGGGCAGCAGCCCATCAGCGTGCCCCCGAGCACCAACAGCACGGTGTACCGGGGTCTG
GAGGGCTTCGTGGCGGCCATCTCGCCCTTTAACTTCACTGCAATCGGCGGCAACCTGGCG
GGGGCACCGGCCCTGATAGGCAACGTGGTCCTATGGAAGCCCAGTGACACTGCCATGCTG
GCCAGCTATGCTGTCTACCGCATCCTTCGGGAGGCTGGCCTGCCCCCCAACATCATCCAG
TTTGTGCCAGCTGATGGGCCCCTATTTGGGGACACTGTCACCAGCTCAGAGCACCTCTGT
GGCATCAACTTCACAGGCAGTGTGCCCACCTTCAAACACCTGTGGAAGCAGGTGGCCCAG
AACCTGGACCGGTTCCACACCTTCCCACGCCTGGCTGGAGAGTGCGGCGGAAAGAACTTC
CACTTCGTGCACCGCTCGGCCGACGTGGAGAGCGTGGTGAGCGGGACCCTCCGCTCAGCC
TTCGAGTACGGTGGCCAGAAGTGTTCCGCCTGCTCGCGTCTCTACGTGCCGCACTCGCTG
TGGCCGCAGATCAAAGGGCGGCTGCTGGAGGAGCACAGTCGGATCAGAGTGGGCGACCCT
GCAGAGGATTTTGGGACCTTCTTCTCTGCAGTGATTGATGCCAAGTCCTTTGCCCGTATC
AAGAAGTGGCTGGAGCACGCACGCTCCTCACCCAGCCTCACCATCCTGGCCGGGGGCAAG
TGTGATGACTCCGTGGGCTACTTTGTGGAGCCCTGCATCGTGGAGAGCAAGGACCCTCAG
GAGCCCATCATGAAGGAGGAGATCTTCGGGCCTGTACTGTCTGTGTACGTCTACCCGGAT
GACAAGTACAAGGAGACGCTGCAGCTGGTTGACAGCACCACCAGCTATGGCCTCACGGGG
GCAGTGTTCTCCCAGGATAAGGACGTCGTGCAGGAGGCCACAAAGGTGCTGAGGAATGCT
GCCGGCAACTTCTACATCAACGACAAGTCCACTGGCTCGATAGTGGGCCAGCAGCCCTTT
GGGGGGGCCCGAGCCTCTGGAACCAATGACAAGCCAGGGGGCCCACACTACATCCTGCGC
TGGACGTCGCCGCAGGTCATCAAGGAGACACATAAGCCCCTGGGGGACTGGAGCTACGCG
TACATGCAGTGA
Protein Properties
Number of Residues 563
Molecular Weight 55117.24
Theoretical pI 6.797
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
MLLPAPALRRALLSRPWTGAGLRWKHTSSLKVANEPVLAFTQGSPERDALQKALKDLKGR
MEAIPCVVGDEEVWTSDVQYQVSPFNHGHKVAKFCYADKSLLNKAIEAALAARKEWDLKP
IADRAQIFLKAADMLSGPRRAEILAKTMVGQGKTVIQAEIDAAAELIDFFRFNAKYAVEL
EGQQPISVPPSTNSTVYRGLEGFVAAISPFNFTAIGGNLAGAPALMGNVVLWKPSDTAML
ASYAVYRILREAGLPPNIIQFVPADGPLFGDTVTSSEHLCGINFTGSVPTFKHLWKQVAQ
NLDRFHTFPRLAGECGGKNFHFVHRSADVESVVSGTLRSAFEYGGQKCSACSRLYVPHSL
WPQIKGRLLEEHSRIKVGDPAEDFGTFFSAVIDAKSFARIKKWLEHARSSPSLTILAGGK
CDDSVGYFVEPCIVESKDPQEPIMKEEIFGPVLSVYVYPDDKYKETLQLVDSTTSYGLTG
AVFSQDKDVVQEATKVLRNAAGNFYINDKSTGSIVGQQPFGGARASGTNDKPGGPHYILR
WTSPQVIKETHKPLGDWSYAYMQ
GenBank ID Protein 62896531
UniProtKB/Swiss-Prot ID P30038
UniProtKB/Swiss-Prot Entry Name AL4A1_HUMAN
PDB IDs
GenBank Gene ID AK222486
GeneCard ID ALDH4A1
GenAtlas ID ALDH4A1
HGNC ID HGNC:406
References
General References
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