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}. 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; 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 //