Aldehyde_dehydrogenase_4_family,_member_A1 References

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
Gene location ( Human)
Chr.	Chromosome 1 (human)
End	18,902,724 bp
Gene location ( Mouse)
Chr.	Chromosome 4 (mouse)
End	139,377,001 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; kidney; ; kidney tubule; ; gastrocnemius muscle; ; putamen; ; amygdala; ; caudate nucleus; ; cingulate gyrus; ; nucleus accumbens; ; renal cortex;
	Top expressed in
	left lobe of liver; ; kidney; ; proximal tubule; ; lip; ; right ventricle; ; skeletal muscle tissue; ; triceps brachii muscle; ; saccule; ; ankle joint; ; otic placode;
	More reference expression data
	; ;
	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
	8659
	212647
	ENSG00000159423
	ENSMUSG00000028737
	P30038
	Q8CHT0
	NM_001161504; NM_003748; NM_170726; NM_001319218
	NM_175438
	NP_001154976; NP_001306147; NP_003739; NP_733844
	NP_780647
	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.^[5]^[6]

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]

References

^ ^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

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)

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. 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, 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. Bibcode: 2006Natur.441..315G. doi: 10.1038/nature04727. PMID 16710414.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000159423 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028737 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8621661-5] 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.

[entrez-6] "Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1".

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v t e Aldehyde dehydrogenases ( EC 1.2.1)
Family 1	Retinaldehyde — ALDH1A1 ALDH1A2 ALDH1A3 ALDH1B1 Formyltetrahydrofolate — ALDH1L1 ALDH1L2
Family 2 ( mitochondrial)	ALDH2
Family 3	Dimeric NADP-preferring — (ALDH3A1) Fatty aldehyde — (ALDH3A2) ALDH3B1 ALDH3B2
Other	ALDH4A1 ALDH5A1 ALDH6A1 α-Aminoadipic semialdehyde — (ALDH7A1) ALDH8A1 ALDH9A1 ALDH16A1 ALDH18A1 Glyceraldehyde 3-phosphate — (GAPDH)

References

External links

Further reading