ID   NDUA1_HUMAN             Reviewed;          70 AA.
AC   O15239;
DT   15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT   01-JAN-1998, sequence version 1.
DT   18-JAN-2017, entry version 147.
DE   RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1;
DE   AltName: Full=Complex I-MWFE;
DE            Short=CI-MWFE;
DE   AltName: Full=NADH-ubiquinone oxidoreductase MWFE subunit;
GN   Name=NDUFA1;
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   PubMed=8938439; DOI=10.1006/geno.1996.0561;
RA   Zhuchenko O., Wehnert M., Bailey J., Sun Z.S., Lee C.C.;
RT   "Isolation, mapping, and genomic structure of an X-linked gene for a
RT   subunit of human mitochondrial complex I.";
RL   Genomics 37:281-288(1996).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Liver;
RX   PubMed=9224902; DOI=10.1016/S0378-1119(97)00108-X;
RA   Frattini A., Faranda S., Bagnasco L., Patrosso C., Nulli P.,
RA   Zucchi I., Vezzoni P.;
RT   "Identification of a new member (ZNF183) of the Ring finger gene
RT   family in Xq24-25.";
RL   Gene 192:291-298(1997).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RA   Zhuchenko O.P., Wehnert M., Bailey J., Sun Z.S., Lee C.C.;
RT   "hMWFE gene -- component of human mitochondrial complex I.";
RL   Submitted (APR-1996) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Eye;
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   IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, AND
RP   IDENTIFICATION BY MASS SPECTROMETRY.
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   [6]
RP   VARIANT [LARGE SCALE ANALYSIS] CYS-53.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA   Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA   Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA   Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA   Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal
RT   cancers.";
RL   Science 314:268-274(2006).
RN   [7]
RP   VARIANTS MT-C1D ARG-8 AND SER-37.
RX   PubMed=17262856; DOI=10.1002/ana.21036;
RA   Fernandez-Moreira D., Ugalde C., Smeets R., Rodenburg R.J.T.,
RA   Lopez-Laso E., Ruiz-Falco M.L., Briones P., Martin M.A.,
RA   Smeitink J.A.M., Arenas J.;
RT   "X-linked NDUFA1 gene mutations associated with mitochondrial
RT   encephalomyopathy.";
RL   Ann. Neurol. 61:73-83(2007).
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: Complex I is composed of 45 different subunits.
CC       {ECO:0000269|PubMed:12611891}.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Single-pass
CC       membrane protein; Matrix side.
CC   -!- TISSUE SPECIFICITY: Primarily expressed in heart and skeletal
CC       muscle.
CC   -!- DISEASE: Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]:
CC       A disorder of the mitochondrial respiratory chain that causes a
CC       wide range of clinical manifestations from lethal neonatal disease
CC       to adult-onset neurodegenerative disorders. Phenotypes include
CC       macrocephaly with progressive leukodystrophy, non-specific
CC       encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh
CC       syndrome, Leber hereditary optic neuropathy, and some forms of
CC       Parkinson disease. {ECO:0000269|PubMed:17262856}. Note=The disease
CC       is caused by mutations affecting the gene represented in this
CC       entry.
CC   -!- SIMILARITY: Belongs to the complex I NDUFA1 subunit family.
CC       {ECO:0000305}.
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DR   EMBL; X81900; CAA57489.1; -; mRNA.
DR   EMBL; U54993; AAD00084.1; -; mRNA.
DR   EMBL; BC000266; AAH00266.1; -; mRNA.
DR   CCDS; CCDS14590.1; -.
DR   RefSeq; NP_004532.1; NM_004541.3.
DR   UniGene; Hs.534168; -.
DR   ProteinModelPortal; O15239; -.
DR   SMR; O15239; -.
DR   BioGrid; 110774; 5.
DR   IntAct; O15239; 4.
DR   MINT; MINT-1419020; -.
DR   STRING; 9606.ENSP00000360492; -.
DR   ChEMBL; CHEMBL2363065; -.
DR   iPTMnet; O15239; -.
DR   PhosphoSitePlus; O15239; -.
DR   BioMuta; NDUFA1; -.
DR   EPD; O15239; -.
DR   PaxDb; O15239; -.
DR   PeptideAtlas; O15239; -.
DR   PRIDE; O15239; -.
DR   TopDownProteomics; O15239; -.
DR   DNASU; 4694; -.
DR   Ensembl; ENST00000371437; ENSP00000360492; ENSG00000125356.
DR   GeneID; 4694; -.
DR   KEGG; hsa:4694; -.
DR   CTD; 4694; -.
DR   DisGeNET; 4694; -.
DR   GeneCards; NDUFA1; -.
DR   HGNC; HGNC:7683; NDUFA1.
DR   HPA; HPA029768; -.
DR   HPA; HPA054359; -.
DR   MalaCards; NDUFA1; -.
DR   MIM; 252010; phenotype.
DR   MIM; 300078; gene.
DR   neXtProt; NX_O15239; -.
DR   OpenTargets; ENSG00000125356; -.
DR   Orphanet; 2609; Isolated NADH-CoQ reductase deficiency.
DR   PharmGKB; PA31489; -.
DR   eggNOG; ENOG410J32W; Eukaryota.
DR   eggNOG; ENOG4112BUF; LUCA.
DR   GeneTree; ENSGT00390000007560; -.
DR   HOGENOM; HOG000010206; -.
DR   HOVERGEN; HBG000813; -.
DR   InParanoid; O15239; -.
DR   KO; K03945; -.
DR   OMA; QWYLMER; -.
DR   OrthoDB; EOG091G179T; -.
DR   PhylomeDB; O15239; -.
DR   TreeFam; TF333394; -.
DR   BioCyc; ZFISH:HS04875-MONOMER; -.
DR   Reactome; R-HSA-611105; Respiratory electron transport.
DR   Reactome; R-HSA-6799198; Complex I biogenesis.
DR   ChiTaRS; NDUFA1; human.
DR   GeneWiki; NADH_dehydrogenase_(ubiquinone),_alpha_1; -.
DR   GenomeRNAi; 4694; -.
DR   PRO; PR:O15239; -.
DR   Proteomes; UP000005640; Chromosome X.
DR   Bgee; ENSG00000125356; -.
DR   CleanEx; HS_NDUFA1; -.
DR   ExpressionAtlas; O15239; baseline and differential.
DR   Genevisible; O15239; HS.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR   GO; GO:0031966; C:mitochondrial membrane; IDA:UniProtKB.
DR   GO; GO:0005747; C:mitochondrial respiratory chain complex I; IDA:UniProtKB.
DR   GO; GO:0005739; C:mitochondrion; IDA:MGI.
DR   GO; GO:0008137; F:NADH dehydrogenase (ubiquinone) activity; NAS: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; TAS:Reactome.
DR   InterPro; IPR017384; NADH_Ub_cplx-1_asu_su-1.
DR   PANTHER; PTHR17098; PTHR17098; 1.
DR   Pfam; PF15879; MWFE; 1.
DR   PIRSF; PIRSF038095; NDUA1; 1.
PE   1: Evidence at protein level;
KW   Complete proteome; Disease mutation; Electron transport; Membrane;
KW   Mitochondrion; Mitochondrion inner membrane; Polymorphism;
KW   Reference proteome; Respiratory chain; Transmembrane;
KW   Transmembrane helix; Transport.
FT   CHAIN         1     70       NADH dehydrogenase [ubiquinone] 1 alpha
FT                                subcomplex subunit 1.
FT                                /FTId=PRO_0000118817.
FT   TRANSMEM      1     21       Helical. {ECO:0000255}.
FT   VARIANT       8      8       G -> R (in MT-C1D; dbSNP:rs104894884).
FT                                {ECO:0000269|PubMed:17262856}.
FT                                /FTId=VAR_035099.
FT   VARIANT      32     32       G -> R (in dbSNP:rs1801316).
FT                                /FTId=VAR_014485.
FT   VARIANT      37     37       R -> S (in MT-C1D; dbSNP:rs104894885).
FT                                {ECO:0000269|PubMed:17262856}.
FT                                /FTId=VAR_035100.
FT   VARIANT      53     53       R -> C (in a colorectal cancer sample;
FT                                somatic mutation).
FT                                {ECO:0000269|PubMed:16959974}.
FT                                /FTId=VAR_036173.
SQ   SEQUENCE   70 AA;  8072 MW;  E4004A62117BF253 CRC64;
     MWFEILPGLS VMGVCLLIPG LATAYIHRFT NGGKEKRVAH FGYHWSLMER DRRISGVDRY
     YVSKGLENID
//