LOCUS NP_001017423 793 aa linear PRI 22-OCT-2008
DEFINITION pyrroline-5-carboxylate synthetase isoform 2 [Homo sapiens].
ACCESSION NP_001017423
VERSION NP_001017423.1 GI:62912457
DBSOURCE REFSEQ: accession NM_001017423.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 793)
AUTHORS Baumgartner,M.R., Rabier,D., Nassogne,M.C., Dufier,J.L.,
Padovani,J.P., Kamoun,P., Valle,D. and Saudubray,J.M.
TITLE Delta1-pyrroline-5-carboxylate synthase deficiency:
neurodegeneration, cataracts and connective tissue manifestations
combined with hyperammonaemia and reduced ornithine, citrulline,
arginine and proline
JOURNAL Eur. J. Pediatr. 164 (1), 31-36 (2005)
PUBMED 15517380
REFERENCE 2 (residues 1 to 793)
AUTHORS Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
TITLE The DNA sequence and comparative analysis of human chromosome 10
JOURNAL Nature 429 (6990), 375-381 (2004)
PUBMED 15164054
REFERENCE 3 (residues 1 to 793)
AUTHORS Baumgartner,M.R., Hu,C.A., Almashanu,S., Steel,G., Obie,C.,
Aral,B., Rabier,D., Kamoun,P., Saudubray,J.M. and Valle,D.
TITLE Hyperammonemia with reduced ornithine, citrulline, arginine and
proline: a new inborn error caused by a mutation in the gene
encoding delta(1)-pyrroline-5-carboxylate synthase
JOURNAL Hum. Mol. Genet. 9 (19), 2853-2858 (2000)
PUBMED 11092761
REFERENCE 4 (residues 1 to 793)
AUTHORS Hu,C.A., Lin,W.W., Obie,C. and Valle,D.
TITLE Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate
synthase. Alternative splice donor utilization generates isoforms
with different sensitivity to ornithine inhibition
JOURNAL J. Biol. Chem. 274 (10), 6754-6762 (1999)
PUBMED 10037775
REFERENCE 5 (residues 1 to 793)
AUTHORS Liu,G., Maunoury,C., Kamoun,P. and Aral,B.
TITLE Assignment of the human gene encoding the delta
1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ
hybridization
JOURNAL Genomics 37 (1), 145-146 (1996)
PUBMED 8921385
REFERENCE 6 (residues 1 to 793)
AUTHORS Aral,B., Schlenzig,J.S., Liu,G. and Kamoun,P.
TITLE Database cloning human delta 1-pyrroline-5-carboxylate synthetase
(P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in
proline biosynthesis
JOURNAL C. R. Acad. Sci. III, Sci. Vie 319 (3), 171-178 (1996)
PUBMED 8761662
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from CD642171.1, U68758.1, X94453.1,
BU170321.1 and AW467503.1.
Summary: This gene is a member of the aldehyde dehydrogenase family
and encodes a bifunctional ATP- and NADPH-dependent mitochondrial
enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate
reductase activities. The encoded protein catalyzes the reduction
of glutamate to delta1-pyrroline-5-carboxylate, a critical step in
the de novo biosynthesis of proline, ornithine and arginine.
Mutations in this gene lead to hyperammonemia, hypoornithinemia,
hypocitrullinemia, hypoargininemia and hypoprolinemia and may be
associated with neurodegeneration, cataracts and connective tissue
diseases. Alternatively spliced transcript variants, encoding
different isoforms, have been described for this gene. [provided by
RefSeq].
Transcript Variant: This variant (2), also known as P5Cs, uses an
alternate in-frame splice site, compared to variant 1, resulting in
a shorter isoform (2).
FEATURES Location/Qualifiers
source 1..793
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q24.3"
Protein 1..793
/product="pyrroline-5-carboxylate synthetase isoform 2"
/EC_number="1.2.1.41"
/EC_number="2.7.2.11"
/note="pyrroline-5-carboxylate synthetase (glutamate
gamma-semialdehyde synthetase);
delta1-pyrroline-5-carboxlate synthetase"
/calculated_mol_wt=86958
CDS 1..793
/gene="ALDH18A1"
/gene_synonym="GSAS"
/gene_synonym="P5CS"
/gene_synonym="PYCS"
/gene_synonym="MGC117316"
/coded_by="NM_001017423.1:243..2624"
/note="isoform 2 is encoded by transcript variant 2"
/db_xref="CCDS:CCDS31257.1"
/db_xref="GeneID:5832"
/db_xref="HGNC:9722"
/db_xref="HPRD:00696"
/db_xref="MIM:138250"
ORIGIN
1 mlsqvyrcgf qpfnqhllpw vkcttvfrsh ciqpsvirhv rswsnipfit vplsrthgks
61 fahrselkha krivvklgsa vvtrgdecgl algrlasive qvsvlqnqgr emmlvtsgav
121 afgkqrlrhe illsqsvrqa lhsgqnqlke maipvleara caaagqsglm alyeamftqy
181 sicaaqilvt nldfhdeqkr rnlngtlhel lrmnivpivn tndavvppae pnsdlqgvis
241 vkdndslaar lavemktdll ivlsdveglf dsppgsddak lidifypgdq qsvtfgtksr
301 vgmggmeakv kaalwalqgg tsvviangth pkvsghvitd ivegkkvgtf fsevkpagpt
361 veqqgemars ggrmlatlep eqraeiihhl adlltdqrde illankkdle eaegrlaapl
421 lkrlslstsk lnslaiglrq iaassqdsvg rvlrrtriak nleleqvtvp igvllvifes
481 rpdclpqvaa laiasgngll lkggkeaahs nrilhlltqe alsihgvkea vqlvntreev
541 edlcrldkmi dliiprgssq lvrdiqkaak gipvmghseg ichmyvdsea svdkvtrlvr
601 dskceypaac naletllihr dllrtplfdq iidmlrveqv kihagpkfas yltfspsevk
661 slrteygdle lcievvdnvq daidhihkyg sshtdvivte dentaefflq hvdsacvfwn
721 astrfsdgyr fglgaevgis tsrihargpv glegllttkw llrgkdhvvs dfsehgslky
781 lhenlpipqr ntn
//