KEGG   Homo sapiens (human): 8659
Entry
8659              CDS       T01001                                 

Gene name
ALDH4A1, ALDH4, P5CD, P5CDh
Definition
(RefSeq) aldehyde dehydrogenase 4 family member A1
  KO
K00294  1-pyrroline-5-carboxylate dehydrogenase [EC:1.2.1.88]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00250  Alanine, aspartate and glutamate metabolism
hsa00330  Arginine and proline metabolism
hsa01100  Metabolic pathways
Disease
H00190  Hyperprolinemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00250 Alanine, aspartate and glutamate metabolism
    8659 (ALDH4A1)
   00330 Arginine and proline metabolism
    8659 (ALDH4A1)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.2  Acting on the aldehyde or oxo group of donors
   1.2.1  With NAD+ or NADP+ as acceptor
    1.2.1.88  L-glutamate gamma-semialdehyde dehydrogenase
     8659 (ALDH4A1)
SSDB
Motif
Pfam: Aldedh
Other DBs
NCBI-GeneID: 8659
NCBI-ProteinID: NP_003739
OMIM: 606811
HGNC: 406
Ensembl: ENSG00000159423
Vega: OTTHUMG00000002443
Pharos: P30038(Tbio)
UniProt: P30038 A0A024RAC7
Structure
PDB: 
4OE5 3V9H 3V9G 3V9I

Position
1p36.13
AA seq 563 aa
MLLPAPALRRALLSRPWTGAGLRWKHTSSLKVANEPVLAFTQGSPERDALQKALKDLKGR
MEAIPCVVGDEEVWTSDVQYQVSPFNHGHKVAKFCYADKSLLNKAIEAALAARKEWDLKP
IADRAQIFLKAADMLSGPRRAEILAKTMVGQGKTVIQAEIDAAAELIDFFRFNAKYAVEL
EGQQPISVPPSTNSTVYRGLEGFVAAISPFNFTAIGGNLAGAPALMGNVVLWKPSDTAML
ASYAVYRILREAGLPPNIIQFVPADGPLFGDTVTSSEHLCGINFTGSVPTFKHLWKQVAQ
NLDRFHTFPRLAGECGGKNFHFVHRSADVESVVSGTLRSAFEYGGQKCSACSRLYVPHSL
WPQIKGRLLEEHSRIKVGDPAEDFGTFFSAVIDAKSFARIKKWLEHARSSPSLTILAGGK
CDDSVGYFVEPCIVESKDPQEPIMKEEIFGPVLSVYVYPDDKYKETLQLVDSTTSYGLTG
AVFSQDKDVVQEATKVLRNAAGNFYINDKSTGSIVGQQPFGGARASGTNDKPGGPHYILR
WTSPQVIKETHKPLGDWSYAYMQ
NT seq 1692 nt   +upstreamnt  +downstreamnt
atgctgctgccggcgcccgcgctccgccgcgccctgctgtcccgcccctggaccggggcc
ggcctgcggtggaagcacacctcctccctgaaggtggccaacgagcccgtcttagccttc
acgcagggcagccctgagcgagatgccctgcaaaaggccttgaaggacctgaagggccgg
atggaagccatcccatgcgtggtgggggatgaggaggtgtggacgtcggacgtgcagtac
caagtgtcgccttttaaccatggacataaggtggccaagttctgttatgcagacaagagc
ctgctcaacaaagccattgaggctgccctggctgcccggaaagagtgggacctgaagcct
attgcagaccgggcccagatcttcctgaaggcggcagacatgctgagtgggccgcgcagg
gctgagatcctcgccaagaccatggtgggacagggtaagaccgtgatccaagcggagatt
gacgctgcagcggaactcatcgacttcttccggttcaatgccaagtatgcggtggagctg
gaggggcagcagcccatcagcgtgcccccgagcaccaacagcacggtgtaccggggtctg
gagggcttcgtggcggccatctcgccctttaacttcactgcaatcggcggcaacctggcg
ggggcaccggccctgatgggcaacgtggtcctatggaagcccagtgacactgccatgctg
gccagctatgctgtctaccgcatccttcgggaggctggcctgccccccaacatcatccag
tttgtgccagctgatgggcccctatttggggacactgtcaccagctcagagcacctctgt
ggcatcaacttcacaggcagtgtgcccaccttcaaacacctgtggaagcaggtggcccag
aacctggaccggttccacaccttcccacgcctggctggagagtgcggcggaaagaacttc
cacttcgtgcaccgctcggccgacgtggagagcgtggtgagcgggaccctccgctcagcc
ttcgagtacggtggccagaagtgttccgcgtgctcgcgtctctacgtgccgcactcgctg
tggccgcagatcaaagggcggctgctggaggagcacagtcggatcaaagtgggcgaccct
gcagaggattttgggaccttcttctctgcagtgattgatgccaagtcctttgcccgtatc
aagaagtggctggagcacgcacgctcctcacccagcctcaccatcctggccgggggcaag
tgtgatgactccgtgggctactttgtggagccctgcatcgtggagagcaaggaccctcag
gagcccatcatgaaggaggagatcttcgggcctgtactgtctgtgtacgtctacccggat
gacaagtacaaggagacgctgcagctggttgacagcaccaccagctatggcctcacgggg
gcagtgttctcccaggataaggacgtcgtgcaggaggccacaaaggtgctgaggaatgct
gccggcaacttctacatcaacgacaagtccactggctcgatagtgggccagcagcccttt
gggggggcccgagcctctggaaccaatgacaagccagggggcccacactacatcctgcgc
tggacgtcgccgcaggtcatcaaggagacacataagcccctgggggactggagctacgcg
tacatgcagtga

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