KEGG   Homo sapiens (human): 5832
Entry
5832              CDS       T01001                                 
Symbol
ALDH18A1, ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B
Name
(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)
SSDB
Motif
Pfam: AA_kinase Aldedh
Other DBs
NCBI-GeneID: 5832
NCBI-ProteinID: NP_001310342
OMIM: 138250
HGNC: 9722
Ensembl: ENSG00000059573
UniProt: P54886
Structure
Position
10:complement(95605941..95656711)
AA seq 795 aa
MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKS
FAHRSELKHAKRIVVKLGSAVVTRGDECGLALGRLASIVEQVSVLQNQGREMMLVTSGAV
AFGKQRLRHEILLSQSVRQALHSGQNQLKEMAIPVLEARACAAAGQSGLMALYEAMFTQY
SICAAQILVTNLDFHDEQKRRNLNGTLHELLRMNIVPIVNTNDAVVPPAEPNSDLQGVNV
ISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDDAKLIDIFYPGDQQSVTFGTK
SRVGMGGMEAKVKAALWALQGGTSVVIANGTHPKVSGHVITDIVEGKKVGTFFSEVKPAG
PTVEQQGEMARSGGRMLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAA
PLLKRLSLSTSKLNSLAIGLRQIAASSQDSVGRVLRRTRIAKNLELEQVTVPIGVLLVIF
ESRPDCLPQVAALAIASGNGLLLKGGKEAAHSNRILHLLTQEALSIHGVKEAVQLVNTRE
EVEDLCRLDKMIDLIIPRGSSQLVRDIQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRL
VRDSKCEYPAACNALETLLIHRDLLRTPLFDQIIDMLRVEQVKIHAGPKFASYLTFSPSE
VKSLRTEYGDLELCIEVVDNVQDAIDHIHKYGSSHTDVIVTEDENTAEFFLQHVDSACVF
WNASTRFSDGYRFGLGAEVGISTSRIHARGPVGLEGLLTTKWLLRGKDHVVSDFSEHGSL
KYLHENLPIPQRNTN
NT seq 2388 nt   +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

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (4)   
   KEGG PATHWAY (3)   
   KEGG MODULE (1)   
Disease (8)   
   KEGG DISEASE (3)   
   OMIM (5)   
Chemical substance (9)   
   KEGG COMPOUND (9)   
Chemical reaction (4)   
   KEGG ENZYME (2)   
   KEGG REACTION (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (12)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (44)   
   RefSeq(nuc) (10)   
   GenBank (17)   
   EMBL (17)   
3D Structure (1)   
   PDB (1)   
Protein domain (2)   
   Pfam (2)   
All databases (97)   

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