ID   NDUS4_HUMAN             Reviewed;         175 AA.
AC   O43181; Q9BS69;
DT   15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-1998, sequence version 1.
DT   25-JAN-2012, entry version 109.
DE   RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial;
DE   AltName: Full=Complex I-18 kDa;
DE            Short=CI-18 kDa;
DE   AltName: Full=Complex I-AQDQ;
DE            Short=CI-AQDQ;
DE   AltName: Full=NADH-ubiquinone oxidoreductase 18 kDa subunit;
DE   Flags: Precursor;
GN   Name=NDUFS4;
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], AND DISEASE.
RX   MEDLINE=98130527; PubMed=9463323; DOI=10.1086/301716;
RA   van den Heuvel L., Ruitenbeek W., Smeets R., Gelman-Kohan Z.,
RA   Elpeleg O., Loeffen J., Trijbels F., Mariman E., de Bruijn D.,
RA   Smeitink J.;
RT   "Demonstration of a new pathogenic mutation in human complex I
RT   deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD
RT   (AQDQ) subunit.";
RL   Am. J. Hum. Genet. 62:262-268(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Urinary bladder;
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   [3]
RP   MASS SPECTROMETRY, AND IDENTIFICATION IN THE NADH-UBIQUINONE
RP   OXIDOREDUCTASE COMPLEX.
RX   PubMed=12611891; DOI=10.1074/jbc.C300064200;
RA   Murray J., Zhang B., Taylor S.W., Oglesbee D., Fahy E., Marusich M.F.,
RA   Ghosh S.S., Capaldi R.A.;
RT   "The subunit composition of the human NADH dehydrogenase obtained by
RT   rapid one-step immunopurification.";
RL   J. Biol. Chem. 278:13619-13622(2003).
RN   [4]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-32 AND SER-34, AND MASS
RP   SPECTROMETRY.
RC   TISSUE=Leukemic T-cell;
RX   PubMed=16094384; DOI=10.1038/nmeth776;
RA   Tao W.A., Wollscheid B., O'Brien R., Eng J.K., Li X.-J.,
RA   Bodenmiller B., Watts J.D., Hood L., Aebersold R.;
RT   "Quantitative phosphoproteome analysis using a dendrimer conjugation
RT   chemistry and tandem mass spectrometry.";
RL   Nat. Methods 2:591-598(2005).
RN   [5]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA   Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
CC   -!- FUNCTION: Accessory subunit of the mitochondrial membrane
CC       respiratory chain NADH dehydrogenase (Complex I), that is believed
CC       not to be involved in catalysis. Complex I functions in the
CC       transfer of electrons from NADH to the respiratory chain. The
CC       immediate electron acceptor for the enzyme is believed to be
CC       ubiquinone.
CC   -!- SUBUNIT: Mammalian complex I is composed of 45 different subunits.
CC       This is a component of the iron-sulfur (IP) fragment of the
CC       enzyme.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral
CC       membrane protein; Matrix side.
CC   -!- DISEASE: Defects in NDUFS4 are a cause of mitochondrial complex I
CC       deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial
CC       respiratory chain that causes a wide range of clinical disorders,
CC       from lethal neonatal disease to adult-onset neurodegenerative
CC       disorders. Phenotypes include macrocephaly with progressive
CC       leukodystrophy, non-specific encephalopathy, cardiomyopathy,
CC       myopathy, liver disease, Leigh syndrome, Leber hereditary optic
CC       neuropathy, and some forms of Parkinson disease.
CC   -!- SIMILARITY: Belongs to the complex I NDUFS4 subunit family.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFS4";
CC   -----------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution-NoDerivs License
CC   -----------------------------------------------------------------------
DR   EMBL; AF020351; AAB87865.1; -; mRNA.
DR   EMBL; BC005270; AAH05270.1; -; mRNA.
DR   IPI; IPI00011217; -.
DR   RefSeq; NP_002486.1; NM_002495.2.
DR   UniGene; Hs.528222; -.
DR   ProteinModelPortal; O43181; -.
DR   SMR; O43181; 75-152.
DR   IntAct; O43181; 2.
DR   STRING; O43181; -.
DR   PhosphoSite; O43181; -.
DR   UCD-2DPAGE; O43181; -.
DR   PeptideAtlas; O43181; -.
DR   PRIDE; O43181; -.
DR   Ensembl; ENST00000296684; ENSP00000296684; ENSG00000164258.
DR   GeneID; 4724; -.
DR   KEGG; hsa:4724; -.
DR   UCSC; uc003jpe.2; human.
DR   CTD; 4724; -.
DR   GeneCards; GC05P052892; -.
DR   H-InvDB; HIX0004857; -.
DR   HGNC; HGNC:7711; NDUFS4.
DR   HPA; HPA003884; -.
DR   MIM; 252010; phenotype.
DR   MIM; 602694; gene.
DR   neXtProt; NX_O43181; -.
DR   Orphanet; 2609; Isolated NADH-CoQ reductase deficiency.
DR   Orphanet; 255241; Leigh syndrome with leukodystrophy.
DR   PharmGKB; PA31521; -.
DR   eggNOG; prNOG16208; -.
DR   GeneTree; ENSGT00390000013835; -.
DR   HOGENOM; HBG600003; -.
DR   HOVERGEN; HBG003007; -.
DR   InParanoid; O43181; -.
DR   OMA; ERNGWRW; -.
DR   PhylomeDB; O43181; -.
DR   Reactome; REACT_111217; Metabolism.
DR   DrugBank; DB00157; NADH.
DR   NextBio; 18218; -.
DR   ArrayExpress; O43181; -.
DR   Bgee; O43181; -.
DR   CleanEx; HS_NDUFS4; -.
DR   Genevestigator; O43181; -.
DR   GermOnline; ENSG00000164258; Homo sapiens.
DR   GO; GO:0005747; C:mitochondrial respiratory chain complex I; IDA:UniProtKB.
DR   GO; GO:0008137; F:NADH dehydrogenase (ubiquinone) activity; IMP:UniProtKB.
DR   GO; GO:0007420; P:brain development; IMP:UniProtKB.
DR   GO; GO:0019933; P:cAMP-mediated signaling; IMP:UniProtKB.
DR   GO; GO:0006120; P:mitochondrial electron transport, NADH to ubiquinone; NAS:UniProtKB.
DR   GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IMP:UniProtKB.
DR   GO; GO:0048146; P:positive regulation of fibroblast proliferation; IMP:UniProtKB.
DR   GO; GO:0072593; P:reactive oxygen species metabolic process; IMP:UniProtKB.
DR   GO; GO:0001932; P:regulation of protein phosphorylation; IMP:MGI.
DR   GO; GO:0051591; P:response to cAMP; IMP:UniProtKB.
DR   GO; GO:0006810; P:transport; IEA:UniProtKB-KW.
DR   InterPro; IPR006885; NADH_UbQ_FeS_4_mit.
DR   KO; K03937; -.
DR   PANTHER; PTHR12219; ETC_CI_21; 1.
DR   Pfam; PF04800; ETC_C1_NDUFA4; 1.
PE   1: Evidence at protein level;
KW   Complete proteome; Electron transport; Membrane; Mitochondrion;
KW   Mitochondrion inner membrane; Phosphoprotein; Polymorphism;
KW   Reference proteome; Respiratory chain; Transit peptide; Transport.
FT   TRANSIT       1     42       Mitochondrion (By similarity).
FT   CHAIN        43    175       NADH dehydrogenase [ubiquinone] iron-
FT                                sulfur protein 4, mitochondrial.
FT                                /FTId=PRO_0000020038.
FT   MOD_RES      32     32       Phosphothreonine.
FT   MOD_RES      34     34       Phosphoserine.
FT   VARIANT     174    174       T -> P (in dbSNP:rs1044692).
FT                                /FTId=VAR_012037.
FT   CONFLICT     39     39       T -> S (in Ref. 2; AAH05270).
SQ   SEQUENCE   175 AA;  20108 MW;  DE5B51DBDD76231E CRC64;
     MAAVSMSVVL RQTLWRRRAV AVAALSVSRV PTRSLRTSTW RLAQDQTQDT QLITVDEKLD
     ITTLTGVPEE HIKTRKVRIF VPARNNMQSG VNNTKKWKME FDTRERWENP LMGWASTADP
     LSNMVLTFST KEDAVSFAEK NGWSYDIEER KVPKPKSKSY GANFSWNKRT RVSTK
//