Aldehyde dehydrogenase 4 family, member A1

ALDH4A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3V9G, 3V9H, 3V9I, 4OE5
Identifiers
Aliases	ALDH4A1, ALDH4, P5CD, P5CDh, Aldehyde dehydrogenase 4 family, member A1, aldehyde dehydrogenase 4 family member A1
External IDs	OMIM: 606811; MGI: 2443883; HomoloGene: 6081; GeneCards: ALDH4A1; OMA:ALDH4A1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p36.13 Start 18,871,430 bp End 18,902,724 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 D3|4 70.79 cM Start 139,350,177 bp End 139,377,001 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver kidney tubule human kidney muscle of thigh gastrocnemius muscle putamen amygdala caudate nucleus right frontal lobe cingulate gyrus Top expressed in right kidney left lobe of liver human kidney proximal tubule muscle of thigh lip right ventricle skeletal muscle tissue triceps brachii muscle granulocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function electron 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 acceptor Cellular component mitochondrial matrix mitochondrion Biological process metabolism 4-hydroxyproline catabolic process proline catabolic process to glutamate proline catabolic process proline metabolic process glyoxylate metabolic process electron transport chain Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8659 212647 Ensembl ENSG00000159423 ENSMUSG00000028737 UniProt P30038 Q8CHT0 RefSeq (mRNA) NM_001161504 NM_003748 NM_170726 NM_001319218 NM_175438 RefSeq (protein) NP_001154976 NP_001306147 NP_003739 NP_733844 NP_780647 Location (UCSC) Chr 1: 18.87 – 18.9 Mb Chr 4: 139.35 – 139.38 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.

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.

External links

• 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 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. 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.
• 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. doi:10.1073/pnas.242603899. PMC 139241. 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. 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. doi:10.1038/nature04727. PMID 16710414.