NDUFS8: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial''' also known as '''NADH-ubiquinone oxidoreductase 23 kDa subunit''' is an [[enzyme]] that in humans is encoded by the ''NDUFS8'' [[gene]].<ref name="pmid9666055">{{cite journal |vauthors=de Sury R, Martinez P, Procaccio V, Lunardi J, Issartel JP | title = Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase | journal = Gene | volume = 215 | issue = 1 | pages = 1–10 |date=Sep 1998 | pmid = 9666055 | pmc =  | doi =10.1016/S0378-1119(98)00275-3  }}</ref><ref name="pmid9116042">{{cite journal |vauthors=Procaccio V, Depetris D, Soularue P, Mattei MG, Lunardi J, Issartel JP | title = cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I | journal = Biochim Biophys Acta | volume = 1351 | issue = 1–2 | pages = 37–41 |date=Apr 1997 | pmid = 9116042 | pmc = | doi =  10.1016/s0167-4781(97)00020-1}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4728| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
| HGNCid = 7715
| Symbol = NDUFS8
| AltSymbols =; TYKY
| OMIM = 602141
| ECnumber = 
| Homologene = 1867
| MGIid = 2385079
| GeneAtlas_image1 = PBB_GE_NDUFS8_203190_at_tn.png
| GeneAtlas_image2 = PBB_GE_NDUFS8_203189_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003954 |text = NADH dehydrogenase activity}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0008137 |text = NADH dehydrogenase (ubiquinone) activity}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}} {{GNF_GO|id=GO:0051539 |text = 4 iron, 4 sulfur cluster binding}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005739 |text = mitochondrion}}
| Process = {{GNF_GO|id=GO:0006120 |text = mitochondrial electron transport, NADH to ubiquinone}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 4728
    | Hs_Ensembl = ENSG00000110717
    | Hs_RefseqProtein = NP_002487
    | Hs_RefseqmRNA = NM_002496
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 67554670
    | Hs_GenLoc_end = 67560686
    | Hs_Uniprot = O00217
    | Mm_EntrezGene = 225887
    | Mm_Ensembl = ENSMUSG00000059734
    | Mm_RefseqmRNA = NM_144870
    | Mm_RefseqProtein = NP_659119
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 3908943
    | Mm_GenLoc_end = 3911746
    | Mm_Uniprot = Q3UY05
  }}
}}
'''NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)''', also known as '''NDUFS8''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4728| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or [[Complex I]], a multimeric enzyme of the [[respiratory chain]] responsible for [[NADH]] oxidation, [[ubiquinone]] reduction, and the ejection of protons from [[mitochondria]]. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process.<ref name="entrez"/>
{{PBB_Summary
 
| section_title =  
== Clinical significance ==
| summary_text =  
 
}}
Mutations in this gene have been associated with [[Leigh syndrome]].<ref name="entrez"/>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  |vauthors=Procaccio V, Wallace DC |title=Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations |journal=Neurology |volume=62 |issue= 10 |pages= 1899–901 |year= 2004 |pmid= 15159508 |doi= 10.1212/01.wnl.0000125251.56131.65| pmc=2821060 }}
| citations =
*{{cite journal  |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
*{{cite journal  | author=Procaccio V, Wallace DC |title=Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. |journal=Neurology |volume=62 |issue= 10 |pages= 1899-901 |year= 2004 |pmid= 15159508 |doi=  }}
*{{cite journal   |vauthors=Dunbar DR, Shibasaki Y, Dobbie L, etal |title=In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes |journal=Cytogenet. Cell Genet. |volume=78 |issue= 1 |pages= 21–4 |year= 1997 |pmid= 9345899 |doi=10.1159/000134618 }}
*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi= }}
*{{cite journal   |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 }}
*{{cite journal  | author=Procaccio V, Depetris D, Soularue P, ''et al.'' |title=cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I. |journal=Biochim. Biophys. Acta |volume=1351 |issue= 1-2 |pages= 37-41 |year= 1997 |pmid= 9116042 |doi= }}
*{{cite journal   |vauthors=Loeffen J, Smeitink J, Triepels R, etal |title=The first nuclear-encoded complex I mutation in a patient with Leigh syndrome |journal=Am. J. Hum. Genet. |volume=63 |issue= 6 |pages= 1598–608 |year= 1999 |pmid= 9837812 |doi=10.1086/302154  | pmc=1377631 }}
*{{cite journal | author=Dunbar DR, Shibasaki Y, Dobbie L, ''et al.'' |title=In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes. |journal=Cytogenet. Cell Genet. |volume=78 |issue= 1 |pages= 21-4 |year= 1997 |pmid= 9345899 |doi=  }}
*{{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 | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
*{{cite journal   |vauthors=Triepels RH, Hanson BJ, van den Heuvel LP, etal |title=Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns |journal=J. Biol. Chem. |volume=276 |issue= 12 |pages= 8892–7 |year= 2001 |pmid= 11112787 |doi= 10.1074/jbc.M009903200 }}
*{{cite journal  | author=de Sury R, Martinez P, Procaccio V, ''et al.'' |title=Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase. |journal=Gene |volume=215 |issue= 1 |pages= 1-10 |year= 1998 |pmid= 9666055 |doi= }}
*{{cite journal  |vauthors=Lescuyer P, Martinez P, Lunardi J |title=YY1 and Sp1 activate transcription of the human NDUFS8 gene encoding the mitochondrial complex I TYKY subunit |journal=Biochim. Biophys. Acta |volume=1574 |issue= 2 |pages= 164–74 |year= 2002 |pmid= 11955626 |doi=  10.1016/s0167-4781(01)00377-3}}
*{{cite journal | author=Loeffen J, Smeitink J, Triepels R, ''et al.'' |title=The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. |journal=Am. J. Hum. Genet. |volume=63 |issue= 6 |pages= 1598-608 |year= 1999 |pmid= 9837812 |doi=  }}
*{{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 | author=Loeffen JL, Triepels RH, van den Heuvel LP, ''et al.'' |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=Murray J, Taylor SW, Zhang B, etal |title=Oxidative damage to mitochondrial complex I due to peroxynitrite: identification of reactive tyrosines by mass spectrometry |journal=J. Biol. Chem. |volume=278 |issue= 39 |pages= 37223–30 |year= 2003 |pmid= 12857734 |doi= 10.1074/jbc.M305694200 }}
*{{cite journal | author=Triepels RH, Hanson BJ, van den Heuvel LP, ''et al.'' |title=Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns. |journal=J. Biol. Chem. |volume=276 |issue= 12 |pages= 8892-7 |year= 2001 |pmid= 11112787 |doi= 10.1074/jbc.M009903200 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Lescuyer P, Martinez P, Lunardi J |title=YY1 and Sp1 activate transcription of the human NDUFS8 gene encoding the mitochondrial complex I TYKY subunit. |journal=Biochim. Biophys. Acta |volume=1574 |issue= 2 |pages= 164-74 |year= 2002 |pmid= 11955626 |doi=  }}
*{{cite journal   |vauthors=Ugalde C, Janssen RJ, van den Heuvel LP, etal |title=Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency |journal=Hum. Mol. Genet. |volume=13 |issue= 6 |pages= 659–67 |year= 2004 |pmid= 14749350 |doi= 10.1093/hmg/ddh071 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{cite journal   |vauthors=Bourges I, Ramus C, Mousson de Camaret B, etal |title=Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin |journal=Biochem. J. |volume=383 |issue= Pt. 3 |pages= 491–9 |year= 2005 |pmid= 15250827 |doi= 10.1042/BJ20040256 | pmc=1133742 }}
*{{cite journal | author=Murray J, Taylor SW, Zhang B, ''et al.'' |title=Oxidative damage to mitochondrial complex I due to peroxynitrite: identification of reactive tyrosines by mass spectrometry. |journal=J. Biol. Chem. |volume=278 |issue= 39 |pages= 37223-30 |year= 2003 |pmid= 12857734 |doi= 10.1074/jbc.M305694200 }}
*{{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 | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Ugalde C, Janssen RJ, van den Heuvel LP, ''et al.'' |title=Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. |journal=Hum. Mol. Genet. |volume=13 |issue= 6 |pages= 659-67 |year= 2004 |pmid= 14749350 |doi= 10.1093/hmg/ddh071 }}
*{{cite journal | author=Bourges I, Ramus C, Mousson de Camaret B, ''et al.'' |title=Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin. |journal=Biochem. J. |volume=383 |issue= Pt. 3 |pages= 491-9 |year= 2005 |pmid= 15250827 |doi= 10.1042/BJ20040256 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{NADH or NADPH oxidoreductases}}
{{WikiDoc Sources}}
{{Enzymes}}
{{Portal bar|Molecular and Cellular Biology|border=no}}
 
{{NLM content}}
 
[[Category:Human proteins]]
[[Category:EC 1.6.5]]
[[Category:EC 1.6.99]]
 
 
{{gene-11-stub}}

Revision as of 12:47, 5 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial also known as NADH-ubiquinone oxidoreductase 23 kDa subunit is an enzyme that in humans is encoded by the NDUFS8 gene.[1][2][3]

Function

This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process.[3]

Clinical significance

Mutations in this gene have been associated with Leigh syndrome.[3]

References

  1. ↑ de Sury R, Martinez P, Procaccio V, Lunardi J, Issartel JP (Sep 1998). "Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase". Gene. 215 (1): 1–10. doi:10.1016/S0378-1119(98)00275-3. PMID 9666055.
  2. ↑ Procaccio V, Depetris D, Soularue P, Mattei MG, Lunardi J, Issartel JP (Apr 1997). "cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I". Biochim Biophys Acta. 1351 (1–2): 37–41. doi:10.1016/s0167-4781(97)00020-1. PMID 9116042.
  3. ↑ 3.0 3.1 3.2 "Entrez Gene: NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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