This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase that 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.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000159423 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000028737 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Hu CA, Lin WW, Valle D (Jun 1996). "Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase". J Biol Chem. 271 (16): 9795–800. doi:10.1074/jbc.271.16.9795. PMID 8621661.
^ ab"Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1".
External linksedit
Human ALDH4A1 genome location and ALDH4A1 gene details page in the UCSC Genome Browser.
PDBe-KB provides an overview of all the structure information available in the PDB for Human Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)
PDBe-KB provides an overview of all the structure information available in the PDB for Mouse Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)
Further readingedit
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. doi:10.1172/JCI109593. PMC371284. 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. doi:10.1002/elps.11501301201. PMID 1286669. S2CID 23518983.
Goodman SI, Mace JW, Miles BS, et al. (1974). "Defective hydroxyproline metabolism in type II hyperprolinemia". Biochemical Medicine. 10 (4): 329–36. doi:10.1016/0006-2944(74)90036-2. 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. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
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. doi:10.1016/S0378-1119(97)00411-3. 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. doi:10.1093/hmg/7.9.1411. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. 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. CiteSeerX10.1.1.556.6156. doi:10.1093/jnci/djg118. 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. PMC528928. 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. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
April 14, 2024
aldehyde, dehydrogenase, family, member, delta, pyrroline, carboxylate, dehydrogenase, mitochondrial, enzyme, that, humans, encoded, aldh4a1, gene, aldh4a1available, structurespdbortholog, search, pdbe, rcsblist, codes3v9g, 3v9h, 3v9i, 4oe5identifiersaliasesal. Delta 1 pyrroline 5 carboxylate dehydrogenase mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene 5 6 ALDH4A1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes3V9G 3V9H 3V9I 4OE5IdentifiersAliasesALDH4A1 ALDH4 P5CD P5CDh Aldehyde dehydrogenase 4 family member A1 aldehyde dehydrogenase 4 family member A1External IDsOMIM 606811 MGI 2443883 HomoloGene 6081 GeneCards ALDH4A1Gene location Human Chr Chromosome 1 human 1 Band1p36 13Start18 871 430 bp 1 End18 902 724 bp 1 Gene location Mouse Chr Chromosome 4 mouse 2 Band4 D3 4 70 79 cMStart139 350 177 bp 2 End139 377 001 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright lobe of liverkidneykidney tubulegastrocnemius muscleputamenamygdalacaudate nucleuscingulate gyrusnucleus accumbensrenal cortexTop expressed inleft lobe of liverkidneyproximal tubulelipright ventricleskeletal muscle tissuetriceps brachii musclesacculeankle jointotic placodeMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionelectron transfer activity 1 pyrroline 5 carboxylate dehydrogenase activity oxidoreductase activity aldehyde dehydrogenase NAD activity identical protein binding oxidoreductase activity acting on the aldehyde or oxo group of donors NAD or NADP as acceptorCellular componentmitochondrial matrix mitochondrionBiological processmetabolism 4 hydroxyproline catabolic process proline catabolic process to glutamate proline catabolic process proline metabolic process glyoxylate metabolic process electron transport chainSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez8659212647EnsemblENSG00000159423ENSMUSG00000028737UniProtP30038Q8CHT0RefSeq mRNA NM 001161504NM 003748NM 170726NM 001319218NM 175438RefSeq protein NP 001154976NP 001306147NP 003739NP 733844NP 780647Location UCSC Chr 1 18 87 18 9 MbChr 4 139 35 139 38 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThis protein belongs to the aldehyde dehydrogenase family of proteins This enzyme is a mitochondrial matrix NAD dependent dehydrogenase that 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 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000159423 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000028737 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Hu CA Lin WW Valle D Jun 1996 Cloning characterization and expression of cDNAs encoding human delta 1 pyrroline 5 carboxylate dehydrogenase J Biol Chem 271 16 9795 800 doi 10 1074 jbc 271 16 9795 PMID 8621661 a b Entrez Gene ALDH4A1 aldehyde dehydrogenase 4 family member A1 External links editHuman ALDH4A1 genome location and ALDH4A1 gene details page in the UCSC Genome Browser PDBe KB provides an overview of all the structure information available in the PDB for Human Delta 1 pyrroline 5 carboxylate dehydrogenase mitochondrial ALDH4A1 PDBe KB provides an overview of all the structure information available in the PDB for Mouse Delta 1 pyrroline 5 carboxylate dehydrogenase mitochondrial ALDH4A1 Further reading editValle 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 doi 10 1172 JCI109593 PMC 371284 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 doi 10 1002 elps 11501301201 PMID 1286669 S2CID 23518983 Goodman SI Mace JW Miles BS et al 1974 Defective hydroxyproline metabolism in type II hyperprolinemia Biochemical Medicine 10 4 329 36 doi 10 1016 0006 2944 74 90036 2 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 doi 10 1016 0378 1119 94 90802 8 PMID 8125298 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 doi 10 1016 S0378 1119 97 00411 3 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 doi 10 1093 hmg 7 9 1411 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 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Twizere JC Kruys V Lefebvre 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 CiteSeerX 10 1 1 556 6156 doi 10 1093 jnci djg118 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 PMC 528928 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 Bibcode 2006Natur 441 315G doi 10 1038 nature04727 PMID 16710414 Retrieved from https en wikipedia org w index php title Aldehyde dehydrogenase 4 family member A1 amp oldid 1117120934, wikipedia, wiki, book, books, library,
