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   03-NOV-2009, entry version 87.
DE   RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial;
DE   AltName: Full=NADH-ubiquinone oxidoreductase 18 kDa subunit;
DE   AltName: Full=Complex I-18 kDa;
DE            Short=CI-18 kDa;
DE   AltName: Full=Complex I-AQDQ;
DE            Short=CI-AQDQ;
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   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-32 AND SER-34, AND MASS
RP   SPECTROMETRY.
RC   TISSUE=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   [4]
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: 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 complex I mitochondrial
CC       respiratory chain deficiency [MIM:252010]. Complex I (NADH-
CC       ubiquinone oxidoreductase), the largest complex of the
CC       mitochondrial respiratory chain, contains more than 40 subunits.
CC       It is embedded in the inner mitochondrial membrane and is partly
CC       protruding in the matrix. Complex I deficiency is the most common
CC       cause of mitochondrial disorders. It represents largely one-third
CC       of all cases of respiratory chain deficiency and is responsible
CC       for a variety of clinical symptoms, ranging from neurological
CC       disorders to cardiomyopathy, liver failure, and myopathy.
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";
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DR   EMBL; AF020351; AAB87865.1; -; mRNA.
DR   EMBL; BC005270; AAH05270.1; -; mRNA.
DR   IPI; IPI00011217; -.
DR   RefSeq; NP_002486.1; -.
DR   UniGene; Hs.528222; -.
DR   STRING; O43181; -.
DR   PhosphoSite; O43181; -.
DR   PeptideAtlas; O43181; -.
DR   PRIDE; O43181; -.
DR   Ensembl; ENST00000296684; ENSP00000296684; ENSG00000164258; Homo sapiens.
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   Orphanet; 506; Leigh syndrome.
DR   Orphanet; 2609; NADH-CoQ reductase deficiency.
DR   PharmGKB; PA31521; -.
DR   HOVERGEN; O43181; -.
DR   OMA; NPLMGWS; -.
DR   Reactome; REACT_1505; Integration of energy metabolism.
DR   Reactome; REACT_15380; Diabetes pathways.
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; IMP: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 u...; NAS:UniProtKB.
DR   GO; GO:0032981; P:mitochondrial respiratory chain complex I a...; IMP:UniProtKB.
DR   GO; GO:0006800; P:oxygen and reactive oxygen species metaboli...; IMP:UniProtKB.
DR   GO; GO:0048146; P:positive regulation of fibroblast prolifera...; IMP:UniProtKB.
DR   GO; GO:0001932; P:regulation of protein amino acid phosphoryl...; IMP:MGI.
DR   GO; GO:0051591; P:response to cAMP; IMP:UniProtKB.
DR   GO; GO:0006810; P:transport; IEA:UniProtKB-KW.
DR   InterPro; IPR006885; ETC-cplx-1_su_cons-reg.
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   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
//