ALDH4A1
entrez
8659
canonical
uniprot
P30038
canonical
ensembl
ENSG00000159423
resolver
ensp
ENSP00000290597
resolver
ensp
ENSP00000364490
resolver
ensp
ENSP00000442988
resolver
ensp
ENSP00000446071
resolver
genesymbol
ALDH4A1
resolver
genesymbol_syn
ALDH4
resolver
genesymbol_syn
P5CDH
resolver
hgnc
HGNC:406
resolver
uniprot
A0A024RAC7
resolver
uniprot
A0A024RAD8
resolver
uniprot
A8K1Q7
resolver
uniprot
B4DGE4
resolver
uniprot
D2D4A3
resolver
uniprot
Q16882
resolver
uniprot
Q53HU4
resolver
uniprot
Q5JNV6
resolver
uniprot
Q8IZ38
resolver
uniprot
Q96IF0
resolver
uniprot
Q9UDI6
resolver
uniprot_entry
A0A024RAC7_HUMAN
resolver
uniprot_entry
AL4A1_HUMAN
resolver
uniprot_sec
A0A024RAD8
resolver
uniprot_sec
A8K1Q7
resolver
uniprot_sec
B4DGE4
resolver
uniprot_sec
D2D4A3
resolver
uniprot_sec
Q16882
resolver
uniprot_sec
Q53HU4
resolver
uniprot_sec
Q5JNV6
resolver
uniprot_sec
Q8IZ38
resolver
uniprot_sec
Q96IF0
resolver
uniprot_sec
Q9UDI6
resolver
amino_acid_sequence
MLLPAPALRRALLSRPWTGAGLRWKHTSSLKVANEPVLAFTQGSPERDALQKALKDLKGRMEAIPCVVGDEEVWTSDVQYQVSPFNHGHKVAKFCYADKSLLNKAIEAALAARKEWDLKPIADRAQIFLKAADMLSGPRRAEILAKTMVGQGKTVIQAEIDAAAELIDFFRFNAKYAVELEGQQPISVPPSTNSTVYRGLEGFVAAISPFNFTAIGGNLAGAPALMGNVVLWKPSDTAMLASYAVYRILREAGLPPNIIQFVPADGPLFGDTVTSSEHLCGINFTGSVPTFKHLWKQVAQNLDRFHTFPRLAGECGGKNFHFVHRSADVESVVSGTLRSAFEYGGQKCSACSRLYVPHSLWPQIKGRLLEEHSRIKVGDPAEDFGTFFSAVIDAKSFARIKKWLEHARSSPSLTILAGGKCDDSVGYFVEPCIVESKDPQEPIMKEEIFGPVLSVYVYPDDKYKETLQLVDSTTSYGLTGAVFSQDKDVVQEATKVLRNAAGNFYINDKSTGSIVGQQPFGGARASGTNDKPGGPHYILRWTSPQVIKETHKPLGDWSYAYMQ
uniprot
proteins
disease_involvement
DISEASE: Hyperprolinemia 2 (HYRPRO2) [MIM:239510]: An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay. {ECO:0000269|PubMed:22516612, ECO:0000269|PubMed:9700195}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.2.1.88
uniprot
proteins
function
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. {ECO:0000269|PubMed:22516612}.
uniprot
proteins
mass_dalton
61719
uniprot
proteins
mutagenesis
MUTAGEN 352; /note="S->A: Reduced affinity for NAD. No effect on enzyme activity."; /evidence="ECO:0000269|PubMed:22516612
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 2/2. {ECO:0000269|PubMed:22516612}.
uniprot
proteins
protein_family
Aldehyde dehydrogenase family
uniprot
proteins
pubmed
1286669
uniprot
proteins
pubmed
1395511
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22516612
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
8493898
uniprot
proteins
pubmed
8621661
uniprot
proteins
pubmed
9700195
uniprot
proteins
sequence_length
563
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix.
uniprot
proteins