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词条 NDUFB9
释义

  1. Structure

  2. Function

  3. Clinical significance

  4. References

  5. Further reading

{{Infobox_gene}}NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 is an enzyme that in humans is encoded by the NDUFB9 gene.[1][2] NADH dehydrogenase (ubiquinone) 1 beta subcomplex subunit 9 is an accessory subunit of the NADH dehydrogenase (ubiquinone) complex, located in the mitochondrial inner membrane. It is also known as Complex I and is the largest of the five complexes of the electron transport chain.[3]

Structure

The NDUFB9 gene is located on the q arm of chromosome 8 in position 13.3 and is 10,884 base pairs long. The NDUFB9 protein weighs 22 kDa and is composed of 179 amino acids.[4][5] NDUFB9 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.[3] 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.[2]

Function

The protein encoded by this gene is an accessory subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I) that is not directly involved in catalysis. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein complex has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified.[2] 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.[3]

Clinical significance

A mutation in NDUFB9 resulting in reduction in NDUFB9 protein and both amount and activity of complex I has been shown to be a causal mutation leading to Complex I deficiency.[6]

References

1. ^{{cite journal |vauthors=Gu JZ, Lin X, Wells DE | title = The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome | journal = Genomics | volume = 35 | issue = 1 | pages = 6–10 |date=Sep 1996 | pmid = 8661098 | pmc = | doi = 10.1006/geno.1996.0316 }}
2. ^1 2 {{cite web | title = Entrez Gene: NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4715| accessdate = }}
3. ^1 2 {{cite book | first1 = Donald | last1 = Voet | first2 = Judith G. | last2 = Voet | first3 = Charlotte W. | last3 = Pratt | name-list-format = vanc | author1-link = Donald Voet | author2-link = Judith G. Voet | title = Fundamentals of biochemistry: life at the molecular level | date = 2013 | publisher = Wiley | location = Hoboken, NJ | isbn = 978-0-470-54784-7 | chapter = Chapter 18 | pages = 581–620 | edition = 4th }}
4. ^{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = Oct 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}
5. ^{{cite web | url = https://amino.heartproteome.org/web/protein/Q9Y6M9 | work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) | title = NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 }}
6. ^{{cite journal|last1=Haack|first1=TB|last2=Madignier|first2=F|last3=Herzer|first3=M|last4=Lamantea|first4=E|last5=Danhauser|first5=K|last6=Invernizzi|first6=F|last7=Koch|first7=J|last8=Freitag|first8=M|last9=Drost|first9=R|last10=Hillier|first10=I|last11=Haberberger|first11=B|last12=Mayr|first12=JA|last13=Ahting|first13=U|last14=Tiranti|first14=V|last15=Rötig|first15=A|last16=Iuso|first16=A|last17=Horvath|first17=R|last18=Tesarova|first18=M|last19=Baric|first19=I|last20=Uziel|first20=G|last21=Rolinski|first21=B|last22=Sperl|first22=W|last23=Meitinger|first23=T|last24=Zeviani|first24=M|last25=Freisinger|first25=P|last26=Prokisch|first26=H|title=Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.|journal=Journal of Medical Genetics|date=February 2012|volume=49|issue=2|pages=83–9|pmid=22200994|doi=10.1136/jmedgenet-2011-100577}}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Emahazion T, Beskow A, Gyllensten U, Brookes AJ |title=Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. |journal=Cytogenet. Cell Genet. |volume=82 |issue= 1–2 |pages= 115–9 |year= 1998 |pmid= 9763677 |doi=10.1159/000015082 }}
  • {{cite journal |vauthors=Loeffen JL, Triepels RH, van den Heuvel LP, etal |title=cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. |journal=Biochem. Biophys. Res. Commun. |volume=253 |issue= 2 |pages= 415–22 |year= 1999 |pmid= 9878551 |doi= 10.1006/bbrc.1998.9786 }}
  • {{cite journal |vauthors=Lin X, Wells DE, Kimberling WJ, Kumar S |title=Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13. |journal=Hum. Hered. |volume=49 |issue= 2 |pages= 75–80 |year= 1999 |pmid= 10077726 |doi=10.1159/000022848 }}
  • {{cite journal |vauthors=Dias Neto E, Correa RG, Verjovski-Almeida S, etal |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491–6 |year= 2000 |pmid= 10737800 |doi=10.1073/pnas.97.7.3491 | pmc=16267 }}
  • {{cite journal |vauthors=Ye Z, Connor JR |title=cDNA cloning by amplification of circularized first strand cDNAs reveals non-IRE-regulated iron-responsive mRNAs. |journal=Biochem. Biophys. Res. Commun. |volume=275 |issue= 1 |pages= 223–7 |year= 2000 |pmid= 10944468 |doi= 10.1006/bbrc.2000.3282 }}
  • {{cite journal |vauthors=Zhang QH, Ye M, Wu XY, etal |title=Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. |journal=Genome Res. |volume=10 |issue= 10 |pages= 1546–60 |year= 2001 |pmid= 11042152 |doi=10.1101/gr.140200 | pmc=310934 }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
  • {{cite journal |vauthors=Stelzl U, Worm U, Lalowski M, etal |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 }}
  • {{cite journal |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
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1 : Human proteins
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