LOCUS NP_003739 563 aa linear PRI 22-OCT-2008
DEFINITION aldehyde dehydrogenase 4A1 precursor [Homo sapiens].
ACCESSION NP_003739
VERSION NP_003739.2 GI:25777734
DBSOURCE REFSEQ: accession NM_003748.2
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 563)
AUTHORS Gregory,S.G., Barlow,K.F., McLay,K.E., Kaul,R., Swarbreck,D.,
Dunham,A., Scott,C.E., Howe,K.L., Woodfine,K., Spencer,C.C.,
Jones,M.C., Gillson,C., Searle,S., Zhou,Y., Kokocinski,F.,
McDonald,L., Evans,R., Phillips,K., Atkinson,A., Cooper,R.,
Jones,C., Hall,R.E., Andrews,T.D., Lloyd,C., Ainscough,R.,
Almeida,J.P., Ambrose,K.D., Anderson,F., Andrew,R.W., Ashwell,R.I.,
Aubin,K., Babbage,A.K., Bagguley,C.L., Bailey,J., Beasley,H.,
Bethel,G., Bird,C.P., Bray-Allen,S., Brown,J.Y., Brown,A.J.,
Buckley,D., Burton,J., Bye,J., Carder,C., Chapman,J.C., Clark,S.Y.,
Clarke,G., Clee,C., Cobley,V., Collier,R.E., Corby,N.,
Coville,G.J., Davies,J., Deadman,R., Dunn,M., Earthrowl,M.,
Ellington,A.G., Errington,H., Frankish,A., Frankland,J., French,L.,
Garner,P., Garnett,J., Gay,L., Ghori,M.R., Gibson,R., Gilby,L.M.,
Gillett,W., Glithero,R.J., Grafham,D.V., Griffiths,C.,
Griffiths-Jones,S., Grocock,R., Hammond,S., Harrison,E.S., Hart,E.,
Haugen,E., Heath,P.D., Holmes,S., Holt,K., Howden,P.J., Hunt,A.R.,
Hunt,S.E., Hunter,G., Isherwood,J., James,R., Johnson,C.,
Johnson,D., Joy,A., Kay,M., Kershaw,J.K., Kibukawa,M.,
Kimberley,A.M., King,A., Knights,A.J., Lad,H., Laird,G., Lawlor,S.,
Leongamornlert,D.A., Lloyd,D.M., Loveland,J., Lovell,J., Lush,M.J.,
Lyne,R., Martin,S., Mashreghi-Mohammadi,M., Matthews,L.,
Matthews,N.S., McLaren,S., Milne,S., Mistry,S., Moore,M.J.,
Nickerson,T., O'Dell,C.N., Oliver,K., Palmeiri,A., Palmer,S.A.,
Parker,A., Patel,D., Pearce,A.V., Peck,A.I., Pelan,S., Phelps,K.,
Phillimore,B.J., Plumb,R., Rajan,J., Raymond,C., Rouse,G.,
Saenphimmachak,C., Sehra,H.K., Sheridan,E., Shownkeen,R., Sims,S.,
Skuce,C.D., Smith,M., Steward,C., Subramanian,S., Sycamore,N.,
Tracey,A., Tromans,A., Van Helmond,Z., Wall,M., Wallis,J.M.,
White,S., Whitehead,S.L., Wilkinson,J.E., Willey,D.L., Williams,H.,
Wilming,L., Wray,P.W., Wu,Z., Coulson,A., Vaudin,M., Sulston,J.E.,
Durbin,R., Hubbard,T., Wooster,R., Dunham,I., Carter,N.P.,
McVean,G., Ross,M.T., Harrow,J., Olson,M.V., Beck,S., Rogers,J.,
Bentley,D.R., Banerjee,R., Bryant,S.P., Burford,D.C., Burrill,W.D.,
Clegg,S.M., Dhami,P., Dovey,O., Faulkner,L.M., Gribble,S.M.,
Langford,C.F., Pandian,R.D., Porter,K.M. and Prigmore,E.
TITLE The DNA sequence and biological annotation of human chromosome 1
JOURNAL Nature 441 (7091), 315-321 (2006)
PUBMED 16710414
REMARK Erratum:[Nature. 2006 Oct 26;443(7114):1013. Banerjee, R [added];
Bryant, SP [added]; Burford, DC [added]; Burrill, WDH [added];
Clegg, SM [added]; Dhami, P [added]; Dovey, O [added]; Faulkner, LM
[added]; Gribble, SM [added]; Langford, CF [added]; Pandian, RD
[added]; Porter, KM [added]; Prigmore, E [added]]
REFERENCE 2 (residues 1 to 563)
AUTHORS Yoon,K.A., Nakamura,Y. and Arakawa,H.
TITLE Identification of ALDH4 as a p53-inducible gene and its protective
role in cellular stresses
JOURNAL J. Hum. Genet. 49 (3), 134-140 (2004)
PUBMED 14986171
REMARK GeneRIF: ALDH4 is a p53-inducible gene with a protective role in
cellular stresses
GeneRIF: ALDH4 is transcriptionally induced by p53.
REFERENCE 3 (residues 1 to 563)
AUTHORS Geraghty,M.T., Vaughn,D., Nicholson,A.J., Lin,W.W.,
Jimenez-Sanchez,G., Obie,C., Flynn,M.P., Valle,D. and Hu,C.A.
TITLE Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene
cause type II hyperprolinemia
JOURNAL Hum. Mol. Genet. 7 (9), 1411-1415 (1998)
PUBMED 9700195
REFERENCE 4 (residues 1 to 563)
AUTHORS Hu,C.A., Lin,W.W. and Valle,D.
TITLE Cloning, characterization, and expression of cDNAs encoding human
delta 1-pyrroline-5-carboxylate dehydrogenase
JOURNAL J. Biol. Chem. 271 (16), 9795-9800 (1996)
PUBMED 8621661
REFERENCE 5 (residues 1 to 563)
AUTHORS Hochstrasser,D.F., Frutiger,S., Paquet,N., Bairoch,A., Ravier,F.,
Pasquali,C., Sanchez,J.C., Tissot,J.D., Bjellqvist,B., Vargas,R. et
al.
TITLE Human liver protein map: a reference database established by
microsequencing and gel comparison
JOURNAL Electrophoresis 13 (12), 992-1001 (1992)
PUBMED 1286669
REFERENCE 6 (residues 1 to 563)
AUTHORS Valle,D., Goodman,S.I., Harris,S.C. and Phang,J.M.
TITLE Genetic evidence for a common enzyme catalyzing the second step in
the degradation of proline and hydroxyproline
JOURNAL J. Clin. Invest. 64 (5), 1365-1370 (1979)
PUBMED 500817
REFERENCE 7 (residues 1 to 563)
AUTHORS Goodman,S.I., Mace,J.W., Miles,B.S., Teng,C.C. and Brown,S.B.
TITLE Defective hydroxyproline metabolism in type II hyperprolinemia
JOURNAL Biochem Med 10 (4), 329-336 (1974)
PUBMED 4851275
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from U24266.1 and BM856369.1.
On Nov 27, 2002 this sequence version replaced gi:4502037.
Summary: This protein belongs to the aldehyde dehydrogenase family
of proteins. This enzyme is a mitochondrial matrix NAD-dependent
dehydrogenase which catalyzes the second step of the proline
degradation pathway, converting pyrroline-5-carboxylate to
glutamate. Deficiency of this enzyme is associated with type II
hyperprolinemia, an autosomal recessive disorder characterized by
accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline.
Two transcript variants encoding the same protein have been
identified for this gene. [provided by RefSeq].
Transcript Variant: This variant (P5CDhL) represents the longer
transcript. Both variants (P5CDhL and P5CDhS) encode the same
protein.
FEATURES Location/Qualifiers
source 1..563
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p36"
Protein 1..563
/product="aldehyde dehydrogenase 4A1 precursor"
/EC_number="1.5.1.12"
/note="mitochondrial delta-1-pyrroline 5-carboxylate
dehydrogenase; P5C dehydrogenase"
transit_peptide 1..24
/calculated_mol_wt=2703
mat_peptide 25..563
/product="aldehyde dehydrogenase 4A1"
/calculated_mol_wt=59034
CDS 1..563
/gene="ALDH4A1"
/gene_synonym="P5CD"
/gene_synonym="ALDH4"
/gene_synonym="P5CDh"
/gene_synonym="P5CDhL"
/gene_synonym="P5CDhS"
/coded_by="NM_003748.2:56..1747"
/db_xref="CCDS:CCDS188.1"
/db_xref="GeneID:8659"
/db_xref="HGNC:406"
/db_xref="HPRD:06009"
/db_xref="MIM:606811"
ORIGIN
1 mllpapalrr allsrpwtga glrwkhtssl kvanepvlaf tqgsperdal qkalkdlkgr
61 meaipcvvgd eevwtsdvqy qvspfnhghk vakfcyadks llnkaieaal aarkewdlkp
121 iadraqiflk aadmlsgprr aeilaktmvg qgktviqaei daaaelidff rfnakyavel
181 egqqpisvpp stnstvyrgl egfvaaispf nftaiggnla gapalmgnvv lwkpsdtaml
241 asyavyrilr eaglppniiq fvpadgplfg dtvtssehlc ginftgsvpt fkhlwkqvaq
301 nldrfhtfpr lagecggknf hfvhrsadve svvsgtlrsa feyggqkcsa csrlyvphsl
361 wpqikgrlle ehsrikvgdp aedfgtffsa vidaksfari kkwleharss psltilaggk
421 cddsvgyfve pciveskdpq epimkeeifg pvlsvyvypd dkyketlqlv dsttsygltg
481 avfsqdkdvv qeatkvlrna agnfyindks tgsivgqqpf ggarasgtnd kpggphyilr
541 wtspqviket hkplgdwsya ymq
//