KEGG   Homo sapiens (human): 5832Help
Entry
5832              CDS       T01001                                 

Gene name
ALDH18A1, ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B
Definition
(RefSeq) aldehyde dehydrogenase 18 family member A1
  KO
K12657  delta-1-pyrroline-5-carboxylate synthetase [EC:2.7.2.11 1.2.1.41]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00330  Arginine and proline metabolism
hsa01100  Metabolic pathways
hsa01230  Biosynthesis of amino acids
Module
hsa_M00015  Proline biosynthesis, glutamate => proline
Disease
H00266  Hereditary spastic paraplegia
H00557  Cutis laxa
H01400  Secondary hyperammonemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00330 Arginine and proline metabolism
    5832 (ALDH18A1)
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
    1.2.1.41  glutamate-5-semialdehyde dehydrogenase
     5832 (ALDH18A1)
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.2  Phosphotransferases with a carboxy group as acceptor
    2.7.2.11  glutamate 5-kinase
     5832 (ALDH18A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: AA_kinase Aldedh
Motif
Other DBs
NCBI-GeneID: 5832
NCBI-ProteinID: NP_001310342
OMIM: 138250
HGNC: 9722
Ensembl: ENSG00000059573
Vega: OTTHUMG00000018815
Pharos: P54886(Tbio)
UniProt: P54886
Structure
PDB: 

Position
10q24.1
AA seq 795 aa AA seqDB search
MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKS
FAHRSELKHAKRIVVKLGSAVVTRGDECGLALGRLASIVEQVSVLQNQGREMMLVTSGAV
AFGKQRLRHEILLSQSVRQALHSGQNQLKEMAIPVLEARACAAAGQSGLMALYEAMFTQY
SICAAQILVTNLDFHDEQKRRNLNGTLHELLRMNIVPIVNTNDAVVPPAEPNSDLQGVNV
ISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDDAKLIDIFYPGDQQSVTFGTK
SRVGMGGMEAKVKAALWALQGGTSVVIANGTHPKVSGHVITDIVEGKKVGTFFSEVKPAG
PTVEQQGEMARSGGRMLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAA
PLLKRLSLSTSKLNSLAIGLRQIAASSQDSVGRVLRRTRIAKNLELEQVTVPIGVLLVIF
ESRPDCLPQVAALAIASGNGLLLKGGKEAAHSNRILHLLTQEALSIHGVKEAVQLVNTRE
EVEDLCRLDKMIDLIIPRGSSQLVRDIQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRL
VRDSKCEYPAACNALETLLIHRDLLRTPLFDQIIDMLRVEQVKIHAGPKFASYLTFSPSE
VKSLRTEYGDLELCIEVVDNVQDAIDHIHKYGSSHTDVIVTEDENTAEFFLQHVDSACVF
WNASTRFSDGYRFGLGAEVGISTSRIHARGPVGLEGLLTTKWLLRGKDHVVSDFSEHGSL
KYLHENLPIPQRNTN
NT seq 2388 nt NT seq  +upstreamnt  +downstreamnt
atgttgagtcaagtttaccgctgtgggttccagcccttcaaccaacatcttctgccctgg
gtcaagtgtacaaccgtcttcagatctcattgtatccagccttcagtcatcagacatgtt
cgttcttggagcaacatcccgtttatcactgtacccctcagtcgtacacatggcaagtcc
ttcgcccaccgcagtgagctgaagcatgccaagagaatcgtggtgaagctcggcagtgcc
gtggtgacccgaggggatgaatgtggcctggccctggggcgcttggcatctattgttgag
caggtatcagtgctgcagaatcagggcagagagatgatgctggtgaccagtggagccgta
gcctttggcaaacaacgcttgcgccatgagatccttctgtctcagagcgtgcggcaggcc
ctccactcggggcagaaccagctgaaagaaatggcaattccagtcttagaggcacgagcc
tgtgcagctgccggacagagtgggctgatggccttgtatgaggctatgtttacccagtac
agcatctgtgctgcccagattttggtgaccaatttggatttccatgatgagcagaagcgc
cggaacctcaatggaacacttcatgaactccttagaatgaacattgtccccattgtcaac
acaaatgatgctgttgtccccccagctgagcccaacagtgacctgcagggggtaaatgtt
attagtgttaaagataatgatagcctggctgcccgactggctgtggaaatgaaaactgat
ctcttgattgttctttcagatgtagaaggcctttttgacagccccccaggttcagatgat
gcaaagcttattgatatattttatcccggagatcagcagtctgtgacatttggaaccaag
tctagagtgggaatgggtggcatggaagccaaggtgaaagcagccctctgggctttgcaa
ggtggcacttctgttgttattgccaatggaacccacccaaaggtgtctgggcacgtcatc
acagacattgtggaggggaagaaagttggtaccttcttttcagaagtaaagcctgcaggc
cctactgttgagcagcagggagaaatggcgcgatctggaggaaggatgttggccaccttg
gaacctgagcagagagcagaaattatccatcatctggctgatctgttgacggaccagcgt
gatgagatcctgttagccaacaaaaaagacttggaggaggcagaggggagacttgcagct
cctctgctgaaacgtttaagcctctccacatccaaattgaacagcctggccatcggtctg
cgacagatcgcagcctcctcccaggacagcgtgggacgtgttttgcgccgcacccgaatc
gccaaaaacttggaactggaacaagtgactgtcccaattggagttctgctggtgatcttt
gaatctcgtcctgactgtctaccccaggtggcagctttggctatcgcaagtggcaatggc
ttgttactcaaaggagggaaggaggctgcacacagcaaccggattctccacctcctgacc
caggaggctctctcaatccatggagtcaaggaggccgtgcaactggtgaataccagagaa
gaagttgaagatctttgccgcctagacaaaatgatagatctgatcattccacgtggctct
tcccagctggtcagagacatccagaaagctgctaaggggattccagtgatggggcacagc
gaagggatctgtcacatgtatgtggattccgaggccagtgttgataaggtcaccaggcta
gtcagagactctaaatgtgaatatccagctgcctgtaatgctttggagactttgttaatc
caccgggatctgctcaggacaccattatttgaccagatcattgatatgctgagagtggaa
caggtaaaaattcatgcaggccccaaatttgcctcctatctgaccttcagcccctccgaa
gtgaagtcactccgaactgagtatggggacctggaattatgcattgaagtagtggacaac
gttcaggatgccattgaccacatccacaagtatggcagctcccacacggatgtcatcgtc
acagaggacgaaaacacagcggagttcttcctgcagcacgtagacagtgcctgtgtgttc
tggaatgccagcactcgcttttctgatggttaccgctttggactgggagctgaagtggga
atcagtacatcgagaatccacgcccggggaccagtaggacttgagggactgcttactact
aagtggctgctgcgagggaaggaccacgtggtctcagatttctcagagcatggaagttta
aaatatcttcatgagaacctccctattcctcagagaaacaccaactga

DBGET integrated database retrieval system