Aldehyde dehydrogenase 4 family, member A1

Last updated
ALDH4A1
Available structures
PDB Ortholog search: PDBe RCSB
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 [3] [4]
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]

Contents

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]

Related Research Articles

<span class="mw-page-title-main">COQ7</span> Protein-coding gene in humans

Mitochondrial 5-demethoxyubiquinone hydroxylase, also known as coenzyme Q7, hydroxylase, is an enzyme that in humans is encoded by the COQ7 gene. The clk-1 (clock-1) gene encodes this protein that is necessary for ubiquinone biosynthesis in the worm Caenorhabditis elegans and other eukaryotes. The mouse version of the gene is called mclk-1 and the human, fruit fly and yeast homolog COQ7.

<span class="mw-page-title-main">1-Pyrroline-5-carboxylic acid</span> Chemical compound

1-Pyrroline-5-carboxylic acid is a cyclic imino acid. Its conjugate base and anion is 1-pyrroline-5-carboxylate (P5C). In solution, P5C is in spontaneous equilibrium with glutamate-5-semialdhyde (GSA).

<span class="mw-page-title-main">Hyperprolinemia</span> Medical condition

Hyperprolinemia is a condition which occurs when the amino acid proline is not broken down properly by the enzymes proline oxidase or pyrroline-5-carboxylate dehydrogenase, causing a buildup of proline in the body.

<span class="mw-page-title-main">3-hydroxyisobutyrate dehydrogenase</span> Protein-coding gene in the species Homo sapiens

In enzymology, a 3-hydroxyisobutyrate dehydrogenase also known as β-hydroxyisobutyrate dehydrogenase or 3-hydroxyisobutyrate dehydrogenase, mitochondrial (HIBADH) is an enzyme that in humans is encoded by the HIBADH gene.

In enzymology, a 1-pyrroline-5-carboxylate dehydrogenase (EC 1.2.1.88) is an enzyme that catalyzes the chemical reaction

<span class="mw-page-title-main">Proline dehydrogenase</span>

In enzymology, proline dehydrogenase (PRODH) (EC 1.5.5.2, formerly EC 1.5.99.8) is an enzyme of the oxidoreductase family, active in the oxidation of L-proline to (S)-1-pyrroline-5-carboxylate during proline catabolism. The end product of this reaction is then further oxidized in a (S)-1-pyrroline-5-carboxylate dehydrogenase (P5CDH)-dependent reaction of the proline metabolism, or spent to produce ornithine, a crucial metabolite of ornithine and arginine metabolism. The systematic name of this enzyme class is L-proline:quinone oxidoreductase. Other names in common use include L-proline dehydrogenase, L-proline oxidase,and L-proline:(acceptor) oxidoreductase. It employs one cofactor, FAD, which requires riboflavin (vitamin B2).

<span class="mw-page-title-main">Pyrroline-5-carboxylate reductase</span>

In enzymology, a pyrroline-5-carboxylate reductase (EC 1.5.1.2) is an enzyme that catalyzes the chemical reaction

<span class="mw-page-title-main">NSDHL</span> Protein-coding gene in the species Homo sapiens

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene. This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis.

<span class="mw-page-title-main">D2HGDH</span> Protein-coding gene in the species Homo sapiens

D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.

<span class="mw-page-title-main">NDUFV3</span> Protein-coding gene in the species Homo sapiens

NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial is an enzyme that in humans is encoded by the NDUFV3 gene.

<span class="mw-page-title-main">PYCR1</span> Protein-coding gene in the species Homo sapiens

Pyrroline-5-carboxylate reductase 1, mitochondrial is an enzyme that in humans is encoded by the PYCR1 gene.

<span class="mw-page-title-main">P4HA2</span> Protein-coding gene in the species Homo sapiens

Prolyl 4-hydroxylase subunit alpha-2 is an enzyme that in humans is encoded by the P4HA2 gene.

<span class="mw-page-title-main">Aldehyde dehydrogenase 18 family, member A1</span> Protein-coding gene in the species Homo sapiens

Delta-1-pyrroline-5-carboxylate synthetase (P5CS) is an enzyme that in humans is encoded by the ALDH18A1 gene. This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. As reported by Bruno Reversade and colleagues, ALDH18A1 deficiency or dominant-negative mutations in P5CS in humans causes a progeroid disease known as De Barsy Syndrome.

<span class="mw-page-title-main">ECH1</span> Protein-coding gene in the species Homo sapiens

Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial is an enzyme that in humans is encoded by the ECH1 gene.

<span class="mw-page-title-main">Mitochondrial ribosomal protein L37</span> Protein-coding gene in the species Homo sapiens

39S ribosomal protein L37, mitochondrial is a protein that in humans is encoded by the MRPL37 gene.

<span class="mw-page-title-main">Mitochondrial ribosomal protein L17</span> Protein-coding gene in the species Homo sapiens

39S ribosomal protein L17, mitochondrial is a protein that in humans is encoded by the MRPL17 gene.

<span class="mw-page-title-main">MRPS25</span> Protein-coding gene in the species Homo sapiens

28S ribosomal protein S25, mitochondrial is a protein that in humans is encoded by the MRPS25 gene.

<span class="mw-page-title-main">ALDH1L2</span> Protein-coding gene in humans

Aldehyde dehydrogenase 1 family, member L2 also known as ALDH1L2 is an enzyme that in humans is encoded by the ALDH1L2 gene. ALDH1L2 is the mitochondrial isoform of a similar enzyme, ALDH1L1, which converts 10-formyltetrahydrofolate to tetrahydrofolate and carbon dioxide.

<span class="mw-page-title-main">PYCR2</span> Protein-coding gene in the species Homo sapiens

Pyrroline-5-carboxylate reductase family, member 2 is a protein that in humans is encoded by the PYCR2 gene.

<span class="mw-page-title-main">NOXRED1</span> Human gene

NADP-dependent oxidoreductase domain-containing protein 1 is a protein that in humans is encoded by the NOXRED1 gene. An alias of this gene is Chromosome 14 Open Reading Frame 148 (c14orf148). This gene is located on chromosome 14, at 14q24.3. NOXRED1 is predicted to be involved in pyrroline-5-carboxylate reductase activity as part of the L-proline biosynthetic pathway. It is expressed in a wide variety of tissues at a relatively low level, including the testes, thyroid, skin, small intestine, brain, kidney, colon, and more.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000159423 Ensembl, May 2017
  2. 1 2 3 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.
  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.
  6. 1 2 "Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1".

Further reading