Aldehyde dehydrogenase 4 family, member A1

Aldehyde dehydrogenase 4 family, member A1
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 3V9G​, 3V9H​, 3V9I​, 4OE5​
Identifiers
Symbols	ALDH4A1 ; ALDH4; P5CD; P5CDh
External IDs	OMIM: 606811 MGI: 2443883 HomoloGene: 6081 GeneCards: ALDH4A1 Gene
EC number	1.2.1.88
Gene ontology Molecular function • 1-pyrroline-5-carboxylate dehydrogenase activity • aldehyde dehydrogenase (NAD) activity • electron carrier activity • identical protein binding Cellular component • mitochondrial matrix Biological process • glutamate biosynthetic process • proline metabolic process • proline biosynthetic process • proline catabolic process • proline catabolic process to glutamate • 4-hydroxyproline catabolic process • cellular nitrogen compound metabolic process • small molecule metabolic process • oxidation-reduction process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8659	212647
Ensembl	ENSG00000159423	ENSMUSG00000028737
UniProt	P30038	Q8CHT0
RefSeq (mRNA)	NM_001161504	NM_175438
RefSeq (protein)	NP_001154976	NP_780647
Location (UCSC)	Chr 1: 18.87 – 18.9 Mb	Chr 4: 139.62 – 139.65 Mb
PubMed search

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.^[1][2]

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.^[2]

References

1. 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.
2. "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. 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. 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.