ID   NDUS3_HUMAN             Reviewed;         264 AA.
AC   O75489; Q9UNQ8;
DT   15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1998, sequence version 1.
DT   16-JUN-2009, entry version 84.
DE   RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial;
DE            EC=1.6.5.3;
DE            EC=1.6.99.3;
DE   AltName: Full=NADH-ubiquinone oxidoreductase 30 kDa subunit;
DE   AltName: Full=Complex I-30kD;
DE            Short=CI-30kD;
DE   Flags: Precursor;
GN   Name=NDUFS3;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   MEDLINE=98321200; PubMed=9647766; DOI=10.1006/bbrc.1998.8882;
RA   Loeffen J., van den Heuvel L., Smeets R., Triepels R., Sengers R.,
RA   Trijbels F., Smeitink J.;
RT   "cDNA sequence and chromosomal localization of the remaining three
RT   human nuclear encoded iron sulphur protein (IP) subunits of complex I:
RT   the human IP fraction is completed.";
RL   Biochem. Biophys. Res. Commun. 247:751-758(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   MEDLINE=20424801; PubMed=10967146; DOI=10.1007/s003350010160;
RA   Procaccio V., Lescuyer P., Bourges I., Beugnot R., Duborjal H.,
RA   Depetris D., Mousson B., Montfort M.F., Smeets H., De Coo R.,
RA   Issartel J.P.;
RT   "Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial
RT   Complex I: genomic organization and expression.";
RL   Mamm. Genome 11:808-810(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Pituitary;
RX   MEDLINE=20402571; PubMed=10931946; DOI=10.1073/pnas.160270997;
RA   Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X.,
RA   Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H.,
RA   Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J.,
RA   Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M.,
RA   Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.;
RT   "Gene expression profiling in the human hypothalamus-pituitary-adrenal
RT   axis and full-length cDNA cloning.";
RL   Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Skin;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   PROTEIN SEQUENCE OF 126-136 AND 187-199, AND MASS SPECTROMETRY.
RC   TISSUE=Brain, and Cajal-Retzius cell;
RA   Lubec G., Vishwanath V.;
RL   Submitted (MAR-2007) to UniProtKB.
RN   [6]
RP   IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RA   Colinge J., Superti-Furga G., Bennett K.L.;
RL   Submitted (OCT-2008) to UniProtKB.
CC   -!- FUNCTION: Core subunit of the mitochondrial membrane respiratory
CC       chain NADH dehydrogenase (Complex I) that is believed to belong to
CC       the minimal assembly required for catalysis. Complex I functions
CC       in the transfer of electrons from NADH to the respiratory chain.
CC       The immediate electron acceptor for the enzyme is believed to be
CC       ubiquinone (By similarity).
CC   -!- CATALYTIC ACTIVITY: NADH + ubiquinone = NAD(+) + ubiquinol.
CC   -!- CATALYTIC ACTIVITY: NADH + acceptor = NAD(+) + reduced acceptor.
CC   -!- SUBUNIT: Mammalian complex I is composed of 45 different subunits.
CC   -!- INTERACTION:
CC       P12544:GZMA; NbExp=1; IntAct=EBI-1224896, EBI-519800;
CC   -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane.
CC   -!- SIMILARITY: Belongs to the complex I 30 kDa subunit family.
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DR   EMBL; AF067139; AAC27451.1; -; mRNA.
DR   EMBL; AF200954; AAG17541.1; -; Genomic_DNA.
DR   EMBL; AF100743; AAD40386.1; -; mRNA.
DR   EMBL; BC000617; AAH00617.1; -; mRNA.
DR   IPI; IPI00025796; -.
DR   PIR; JE0195; JE0195.
DR   RefSeq; NP_004542.1; -.
DR   UniGene; Hs.502528; -.
DR   IntAct; O75489; 8.
DR   PhosphoSite; O75489; -.
DR   REPRODUCTION-2DPAGE; IPI00025796; -.
DR   REPRODUCTION-2DPAGE; O75489; -.
DR   PeptideAtlas; O75489; -.
DR   PRIDE; O75489; -.
DR   Ensembl; ENSG00000213619; Homo sapiens.
DR   GeneID; 4722; -.
DR   KEGG; hsa:4722; -.
DR   NMPDR; fig|9606.3.peg.5556; -.
DR   GeneCards; GC11P047544; -.
DR   H-InvDB; HIX0009620; -.
DR   H-InvDB; HIX0079399; -.
DR   HGNC; HGNC:7710; NDUFS3.
DR   HPA; HPA004484; -.
DR   MIM; 603846; gene.
DR   Orphanet; 506; Leigh syndrome.
DR   Orphanet; 2609; NADH-CoQ reductase deficiency.
DR   PharmGKB; PA31520; -.
DR   HOVERGEN; O75489; -.
DR   OMA; O75489; MYGVFFA.
DR   BRENDA; 1.6.5.3; 247.
DR   BRENDA; 1.6.99.3; 247.
DR   Reactome; REACT_6305; Electron Transport Chain.
DR   DrugBank; DB00157; NADH.
DR   NextBio; 18210; -.
DR   ArrayExpress; O75489; -.
DR   Bgee; O75489; -.
DR   CleanEx; HS_NDUFS3; -.
DR   GermOnline; ENSG00000110536; Homo sapiens.
DR   GO; GO:0005747; C:mitochondrial respiratory chain complex I; IDA:UniProtKB.
DR   GO; GO:0009055; F:electron carrier activity; NAS:UniProtKB.
DR   GO; GO:0008137; F:NADH dehydrogenase (ubiquinone) activity; NAS:UniProtKB.
DR   GO; GO:0005515; F:protein binding; IPI:IntAct.
DR   GO; GO:0006917; P:induction of apoptosis; IMP:UniProtKB.
DR   GO; GO:0006120; P:mitochondrial electron transport, NADH to u...; NAS:UniProtKB.
DR   GO; GO:0030308; P:negative regulation of cell growth; IMP:UniProtKB.
DR   GO; GO:0006800; P:oxygen and reactive oxygen species metaboli...; IMP:UniProtKB.
DR   GO; GO:0006810; P:transport; IEA:UniProtKB-KW.
DR   InterPro; IPR010218; NADH_DH_csu.
DR   InterPro; IPR001268; NADH_UbQ_OxRdtase_30kDa_su.
DR   Pfam; PF00329; Complex1_30kDa; 1.
DR   ProDom; PD001581; Complex1_30K; 1.
DR   TIGRFAMs; TIGR01961; NuoC_fam; 1.
DR   PROSITE; PS00542; COMPLEX1_30K; 1.
PE   1: Evidence at protein level;
KW   Direct protein sequencing; Electron transport; Membrane;
KW   Mitochondrion; Mitochondrion inner membrane; NAD; Oxidoreductase;
KW   Polymorphism; Respiratory chain; Transit peptide; Transport;
KW   Ubiquinone.
FT   TRANSIT       1     36       Mitochondrion (By similarity).
FT   CHAIN        37    264       NADH dehydrogenase [ubiquinone] iron-
FT                                sulfur protein 3, mitochondrial.
FT                                /FTId=PRO_0000019998.
FT   VARIANT     249    249       P -> Q (in dbSNP:rs9600).
FT                                /FTId=VAR_012036.
FT   CONFLICT      1      7       MAAAAVA -> MAAGRY (in Ref. 3).
SQ   SEQUENCE   264 AA;  30242 MW;  C058D62779BEF17B CRC64;
     MAAAAVARLW WRGILGASAL TRGTGRPSVL LLPVRRESAG ADTRPTVRPR NDVAHKQLSA
     FGEYVAEILP KYVQQVQVSC FNELEVCIHP DGVIPVLTFL RDHTNAQFKS LVDLTAVDVP
     TRQNRFEIVY NLLSLRFNSR IRVKTYTDEL TPIESAVSVF KAANWYEREI WDMFGVFFAN
     HPDLRRILTD YGFEGHPFRK DFPLSGYVEL RYDDEVKRVV AEPVELAQEF RKFDLNSPWE
     AFPVYRQPPE SLKLEAGDKK PDAK
//