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11-SEPTEMBER-2008 13:54:10 - ALDH4A1 Aldehyde dehydrogenase 4 family, member A1 Identifiers Symbols ALDH4A1; ALDH4; P5CD; P5CDh; P5CDhL; P5CDhS External IDs OMIM: 606811 MGI: 2443883 HomoloGene: 6081 Gene ontology Molecular function: 1-pyrroline-5-carboxylate dehydrogenase activity aldehyde dehydrogenase NAD activity electron carrier activity oxidoreductase activity Cellular component: mitochondrion mitochondrial matrix Biological process: proline biosynthetic process proline catabolic process metabolic process RNA expression pattern More reference expression data Orthologs Human Mouse Entrez 8659 212647 Ensembl ENSG00000159423 ENSMUSG00000028737 Uniprot P30038 Q8BU44 Refseq NM_003748 mRNA NP_003739 protein NM_175438 mRNA NP_780647 protein Location Chr 1: 19.07 - 19.1 Mb Chr 4: 138.89 - 138.92 Mb Pubmed search 1 2 Aldehyde dehydrogenase 4 family, member A1, also known as ALDH4A1, is a human gene.1 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.1 References ^ a b Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1. Further reading Valle D, Goodman SI, Harris SC, Phang JM 1980. Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline.. J. Clin. Invest. 64 5: 1365-70. PMID 500817. Hochstrasser DF, Frutiger S, Paquet N, et al. 1993. Human liver protein map: a reference database established by microsequencing and gel comparison.. Electrophoresis 13 12: 992-1001. PMID 1286669. Goodman SI, Mace JW, Miles BS, et al. 1974. Defective hydroxyproline metabolism in type II hyperprolinemia.. Biochemical medicine 10 4: 329-36. PMID 4851275. Maruyama K, Sugano S 1994. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.. Gene 138 1-2: 171-4. PMID 8125298. Hu CA, Lin WW, Valle D 1996. Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase.. J. Biol. Chem. 271 16: 9795-800. PMID 8621661. Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. 1997. Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.. Gene 200 1-2: 149-56. PMID 9373149. Geraghty MT, Vaughn D, Nicholson AJ, et al. 1998. Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.. Hum. Mol. Genet. 7 9: 1411-5. PMID 9700195. Strausberg RL, Feingold EA, Grouse LH, et al. 2003. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.. Proc. Natl. Acad. Sci. U.S.A. 99 26: 16899-903. doi:10.1073/pnas.242603899. PMID 12477932. Twizere JC, Kruys V, Lefèbvre L, et al. 2004. Interaction of retroviral Tax oncoproteins with tristetraprolin and regulation of tumor necrosis factor-alpha expression.. J. Natl. Cancer Inst. 95 24: 1846-59. PMID 14679154. Yoon KA, Nakamura Y, Arakawa H 2004. Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses.. J. Hum. Genet. 49 3: 134-40. doi:10.1007/s10038-003-0122-3. PMID 14986171. Gerhard DS, Wagner L, Feingold EA, et al. 2004. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection MGC.. Genome Res. 14 10B: 2121-7. doi:10.1101/gr.2596504. PMID 15489334. Gregory SG, Barlow KF, McLay KE, et al. 2006. The DNA sequence and biological annotation of human chromosome 1.. Nature 441 7091: 315-21. doi:10.1038/nature04727. PMID 16710414. This article on a gene on chromosome 1 is a stub. v d e Aldehyde/oxo oxidoreductases EC 1.2 1.2.1 - NAD or NADP acceptor Aldehyde dehydrogenase: Acetaldehyde dehydrogenase ALDH2 - Long-chain-aldehyde dehydrogenase Glyceraldehyde 3-phosphate dehydrogenase 1.2.4 - disulfide acceptor Oxoglutarate dehydrogenase - Pyruvate dehydrogenase - Branched-chain alpha-keto acid dehydrogenase complex v d e Metabolism: amino acid metabolism - synthesis and catabolism enzymes essential in CAPS K→acetyl-CoA LYSINE→ Saccharopine dehydrogenase - Glutaryl-CoA dehydrogenase LEUCINE→ Branched chain aminotransferase - Branched-chain alpha-keto acid dehydrogenase complex - Isovaleryl coenzyme A dehydrogenase - Methylcrotonyl-CoA carboxylase - Methylglutaconyl-CoA hydratase - 3-hydroxy-3-methylglutaryl-CoA lyase TRYPTOPHAN→ Indoleamine 2,3-dioxygenase/Tryptophan 2,3-dioxygenase - Arylformamidase - Kynureninase - 3-hydroxyanthranilate oxidase - Aminocarboxymuconate-semialdehyde decarboxylase - Aminomuconate-semialdehyde dehydrogenase PHENYLALANINE→tyrosine→ see below G→pyruvate glycine→serine→ Serine hydroxymethyltransferase - Serine dehydratase alanine→ Alanine transaminase cysteine→ D-cysteine desulfhydrase threonine→ L-threonine dehydrogenase G→glutamate HISTIDINE→ Histidine ammonia-lyase - Urocanate hydratase - Formiminotransferase cyclodeaminase proline→ Proline oxidase - Pyrroline-5-carboxylate reductase - 1-Pyrroline-5-carboxylate dehydrogenase/ALDH4A1 - PYCR1 arginine→ Ornithine aminotransferase - Ornithine decarboxylase - Agmatinase →alpha-ketoglutarate→TCA Glutamate dehydrogenase G→propionyl-CoA VALINE→ Branched chain aminotransferase - Branched-chain alpha-keto acid dehydrogenase complex - Enoyl-CoA hydratase - 3-hydroxyisobutyryl-CoA hydrolase - 3-hydroxyisobutyrate dehydrogenase - Methylmalonate semialdehyde dehydrogenase ISOLEUCINE→ Branched chain aminotransferase - Branched-chain alpha-keto acid dehydrogenase complex - 3-hydroxy-2-methylbutyryl-CoA dehydrogenase METHIONINE→ Methionine adenosyltransferase - Adenosylhomocysteinase - Cystathionine beta synthase - Cystathionine gamma-lyase methionine synthesis: MTR/Homocysteine methyltransferase THREONINE→ Threonine aldolase →succinyl-CoA→TCA Propionyl-CoA carboxylase - Methylmalonyl CoA epimerase - Methylmalonyl-CoA mutase G→fumarate PHENYLALANINE→tyrosine→ Phenylalanine hydroxylase - Tyrosine aminotransferase - 4-Hydroxyphenylpyruvate dioxygenase - Homogentisate 1,2-dioxygenase - Fumarylacetoacetate hydrolase G→oxaloacetate asparagine→aspartate→ Asparaginase/Asparagine synthetase - Aspartate transaminase Other tyrosine→melanin Tyrosinase cysteine+glutamate→glutathione Gamma-glutamylcysteine synthetase - Glutathione synthetase - Gamma-glutamyl transpeptidase glycine→creatine Guanidinoacetate N-methyltransferase - Creatine kinase glutamate→glutamine Glutamine synthetase - Glutaminase proline+lysine→collagen Prolyl hydroxylase - Lysyl hydroxylase see also disorders, intermediates Retrieved from http://en..org/wiki/ALDH4A1 Categories: Genes on chromosome 1 | Human proteins | Chromosome 1 gene stubsHidden category: Protein pages needing a picture Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page This page was last modified on 10 July 2008, at 10:19
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