The NDUFA4L2 gene is located on the long q arm of chromosome 12 at position 13.3 and it spans 5,860 base pairs.[5] NDUFA4L2 is a subunit of the enzyme NADH dehydrogenase (ubiquinone), the largest of the respiratory complexes. The structure is L-shaped with a long, hydrophobictransmembrane domain and a hydrophilic domain for the peripheral arm that includes all the known redox centers and the NADH binding site.[6] It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of Complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and that the hydrophobic domain acts as an anchor for the NADH dehydrogenase (ubiquinone) complex at the inner mitochondrial membrane.[5]
Functionedit
The human NDUFA4L2 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone.[5] Initially, NADH binds to Complex I and transfers two electrons to the isoalloxazine ring of the flavin mononucleotide (FMN) prosthetic arm to form FMNH2. The electrons are transferred through a series of iron-sulfur (Fe-S) clusters in the prosthetic arm and finally to coenzyme Q10 (CoQ), which is reduced to ubiquinol (CoQH2). The flow of electrons changes the redox state of the protein, resulting in a conformational change and pK shift of the ionizable side chain, which pumps four hydrogen ions out of the mitochondrial matrix.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000185633 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000040280 - 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.
ndufa4l2, nadh, dehydrogenase, ubiquinone, alpha, subcomplex, like, protein, that, humans, encoded, gene, protein, subunit, nadh, dehydrogenase, ubiquinone, which, located, mitochondrial, inner, membrane, largest, five, complexes, electron, transport, chain, i. NADH dehydrogenase ubiquinone 1 alpha subcomplex 4 like 2 is a protein that in humans is encoded by the NDUFA4L2 gene 5 The NDUFA4L2 protein is a subunit of NADH dehydrogenase ubiquinone which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain 6 NDUFA4L2IdentifiersAliasesNDUFA4L2 NUOMS NADH dehydrogenase ubiquinone 1 alpha subcomplex 4 like 2 NDUFA4 mitochondrial complex associated like 2 NDUFA4 mitochondrial complex associated like 2 COXFA4L2 MISTRHExternal IDsMGI 3039567 HomoloGene 49614 GeneCards NDUFA4L2Gene location Human Chr Chromosome 12 human 1 Band12q13 3Start57 234 903 bp 1 End57 240 715 bp 1 Gene location Mouse Chr Chromosome 10 mouse 2 Band10 10 D3Start127 350 836 bp 2 End127 353 023 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright coronary arteryskin of abdomenpopliteal arteryleft coronary arteryascending aortaleft ventricleright lobe of thyroid glandsynovial jointvaginaanterior pituitaryTop expressed inesophagusbelly cordlipcalvariaankleleft lung lobeseminiferous tubuleadrenal glandskin of abdomenskin of backMore reference expression dataBioGPSn aGene ontologyMolecular functioncytochrome c oxidase activityCellular componentmitochondrial respiratory chain complex IVBiological processproton transmembrane transport electron transport chainSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez56901407790EnsemblENSG00000185633ENSMUSG00000040280UniProtQ9NRX3Q4FZG9RefSeq mRNA NM 020142NM 001394960NM 001394961NM 001098789RefSeq protein NP 064527NP 001092259Location UCSC Chr 12 57 23 57 24 MbChr 10 127 35 127 35 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseStructure editThe NDUFA4L2 gene is located on the long q arm of chromosome 12 at position 13 3 and it spans 5 860 base pairs 5 NDUFA4L2 is a subunit of the enzyme NADH dehydrogenase ubiquinone the largest of the respiratory complexes The structure is L shaped with a long hydrophobic transmembrane domain and a hydrophilic domain for the peripheral arm that includes all the known redox centers and the NADH binding site 6 It has been noted that the N terminal hydrophobic domain has the potential to be folded into an alpha helix spanning the inner mitochondrial membrane with a C terminal hydrophilic domain interacting with globular subunits of Complex I The highly conserved two domain structure suggests that this feature is critical for the protein function and that the hydrophobic domain acts as an anchor for the NADH dehydrogenase ubiquinone complex at the inner mitochondrial membrane 5 Function editThe human NDUFA4L2 gene codes for a subunit of Complex I of the respiratory chain which transfers electrons from NADH to ubiquinone 5 Initially NADH binds to Complex I and transfers two electrons to the isoalloxazine ring of the flavin mononucleotide FMN prosthetic arm to form FMNH2 The electrons are transferred through a series of iron sulfur Fe S clusters in the prosthetic arm and finally to coenzyme Q10 CoQ which is reduced to ubiquinol CoQH2 The flow of electrons changes the redox state of the protein resulting in a conformational change and pK shift of the ionizable side chain which pumps four hydrogen ions out of the mitochondrial matrix 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000185633 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000040280 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 a b c d Entrez Gene NADH dehydrogenase ubiquinone 1 alpha subcomplex 4 like 2 a b c Voet D Voet JG Pratt CW 2013 Chapter 18 Fundamentals of biochemistry life at the molecular level 4th ed Hoboken NJ Wiley pp 581 620 ISBN 978 0 470 54784 7 This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title NDUFA4L2 amp oldid 1142723263, wikipedia, wiki, book, books, library,
