ID:NDUS1_HUMAN DESCRIPTION: RecName: Full=NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial; EC=1.6.5.3; EC=1.6.99.3; AltName: Full=Complex I-75kD; Short=CI-75kD; Flags: Precursor; FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. CATALYTIC ACTIVITY: NADH + ubiquinone = NAD(+) + ubiquinol. CATALYTIC ACTIVITY: NADH + acceptor = NAD(+) + reduced acceptor. COFACTOR: Binds 1 2Fe-2S cluster per subunit (By similarity). COFACTOR: Binds 2 4Fe-4S clusters per subunit (By similarity). SUBUNIT: Complex I is composed of 45 different subunits. SUBCELLULAR LOCATION: Mitochondrion inner membrane. DISEASE: Defects in NDUFS1 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. SIMILARITY: Belongs to the complex I 75 kDa subunit family. SIMILARITY: Contains 1 2Fe-2S ferredoxin-type domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFS1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P28331
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003954 NADH dehydrogenase activity GO:0005515 protein binding GO:0008137 NADH dehydrogenase (ubiquinone) activity GO:0009055 electron carrier activity GO:0016491 oxidoreductase activity GO:0016651 oxidoreductase activity, acting on NAD(P)H GO:0046872 metal ion binding GO:0051536 iron-sulfur cluster binding GO:0051537 2 iron, 2 sulfur cluster binding GO:0051539 4 iron, 4 sulfur cluster binding
Biological Process: GO:0006120 mitochondrial electron transport, NADH to ubiquinone GO:0008637 apoptotic mitochondrial changes GO:0032981 mitochondrial respiratory chain complex I assembly GO:0042773 ATP synthesis coupled electron transport GO:0045333 cellular respiration GO:0046034 ATP metabolic process GO:0051881 regulation of mitochondrial membrane potential GO:0055114 oxidation-reduction process GO:0072593 reactive oxygen species metabolic process
BC047780 - Homo sapiens mRNA similar to glycine cleavage system protein H (aminomethyl carrier) (cDNA clone IMAGE:6041761). AK092810 - Homo sapiens cDNA FLJ35491 fis, clone SMINT2008625, moderately similar to GLYCINE CLEAVAGE SYSTEM H PROTEIN PRECURSOR. AX747742 - Sequence 1267 from Patent EP1308459. JD238972 - Sequence 219996 from Patent EP1572962. JD285603 - Sequence 266627 from Patent EP1572962. JD151013 - Sequence 132037 from Patent EP1572962. JD363173 - Sequence 344197 from Patent EP1572962. JD425902 - Sequence 406926 from Patent EP1572962. JD255762 - Sequence 236786 from Patent EP1572962. JD285402 - Sequence 266426 from Patent EP1572962. JD071922 - Sequence 52946 from Patent EP1572962. JD135012 - Sequence 116036 from Patent EP1572962. JD264739 - Sequence 245763 from Patent EP1572962. JD342363 - Sequence 323387 from Patent EP1572962. JD264260 - Sequence 245284 from Patent EP1572962. JD242951 - Sequence 223975 from Patent EP1572962. JD118200 - Sequence 99224 from Patent EP1572962. JD118199 - Sequence 99223 from Patent EP1572962. JD388037 - Sequence 369061 from Patent EP1572962. JD388036 - Sequence 369060 from Patent EP1572962. JD169204 - Sequence 150228 from Patent EP1572962. JD063049 - Sequence 44073 from Patent EP1572962. JD204571 - Sequence 185595 from Patent EP1572962. JD475797 - Sequence 456821 from Patent EP1572962. JD131012 - Sequence 112036 from Patent EP1572962. JD422518 - Sequence 403542 from Patent EP1572962. JD459654 - Sequence 440678 from Patent EP1572962. BC030833 - Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase), mRNA (cDNA clone MGC:26839 IMAGE:4819912), complete cds. LP895422 - Sequence 286 from Patent EP3253886. JD365260 - Sequence 346284 from Patent EP1572962. JD097519 - Sequence 78543 from Patent EP1572962. JD512565 - Sequence 493589 from Patent EP1572962. JD351021 - Sequence 332045 from Patent EP1572962. JD182535 - Sequence 163559 from Patent EP1572962. JD331797 - Sequence 312821 from Patent EP1572962. JD138169 - Sequence 119193 from Patent EP1572962. JD078727 - Sequence 59751 from Patent EP1572962. JD175383 - Sequence 156407 from Patent EP1572962. JD420895 - Sequence 401919 from Patent EP1572962. JD309700 - Sequence 290724 from Patent EP1572962. JD472233 - Sequence 453257 from Patent EP1572962. JD278828 - Sequence 259852 from Patent EP1572962. JD531662 - Sequence 512686 from Patent EP1572962. JD074364 - Sequence 55388 from Patent EP1572962. JD208267 - Sequence 189291 from Patent EP1572962. JD201479 - Sequence 182503 from Patent EP1572962. JD523801 - Sequence 504825 from Patent EP1572962. JD351876 - Sequence 332900 from Patent EP1572962. JD362413 - Sequence 343437 from Patent EP1572962. JD066293 - Sequence 47317 from Patent EP1572962. JD538374 - Sequence 519398 from Patent EP1572962. JD283397 - Sequence 264421 from Patent EP1572962. JD294789 - Sequence 275813 from Patent EP1572962. JD498016 - Sequence 479040 from Patent EP1572962. JD498017 - Sequence 479041 from Patent EP1572962. JD112447 - Sequence 93471 from Patent EP1572962. JD058044 - Sequence 39068 from Patent EP1572962. JD142588 - Sequence 123612 from Patent EP1572962. JD196141 - Sequence 177165 from Patent EP1572962. JD222984 - Sequence 204008 from Patent EP1572962. JD089546 - Sequence 70570 from Patent EP1572962. JD112446 - Sequence 93470 from Patent EP1572962. JD231941 - Sequence 212965 from Patent EP1572962. JD233298 - Sequence 214322 from Patent EP1572962. JD299337 - Sequence 280361 from Patent EP1572962. LF383613 - JP 2014500723-A/191116: Polycomb-Associated Non-Coding RNAs. JD048702 - Sequence 29726 from Patent EP1572962. JD559945 - Sequence 540969 from Patent EP1572962. JD394249 - Sequence 375273 from Patent EP1572962. JD566479 - Sequence 547503 from Patent EP1572962. JD359745 - Sequence 340769 from Patent EP1572962. JD093432 - Sequence 74456 from Patent EP1572962. JD412157 - Sequence 393181 from Patent EP1572962. JD075335 - Sequence 56359 from Patent EP1572962. JD182184 - Sequence 163208 from Patent EP1572962. JD300208 - Sequence 281232 from Patent EP1572962. AK300585 - Homo sapiens cDNA FLJ53201 complete cds, highly similar to NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor (EC 1.6.5.3). JD562240 - Sequence 543264 from Patent EP1572962. BC012068 - Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase), mRNA (cDNA clone IMAGE:4660953), complete cds. X61100 - Human mRNA for mitochondrial 75 kDa iron sulphur protein. AK098395 - Homo sapiens cDNA FLJ25529 fis, clone CBR07451, highly similar to NADH-UBIQUINONE OXIDOREDUCTASE 75 KDA SUBUNIT PRECURSOR (EC 1.6.5.3). AK295966 - Homo sapiens cDNA FLJ60586 complete cds, highly similar to NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor (EC 1.6.5.3). AK295705 - Homo sapiens cDNA FLJ54000 complete cds, highly similar to NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor (EC 1.6.5.3). LF317948 - JP 2014500723-A/125451: Polycomb-Associated Non-Coding RNAs. BC018900 - Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase), mRNA (cDNA clone IMAGE:3945153). BC004133 - Homo sapiens cDNA clone IMAGE:3504719, containing frame-shift errors. BC022368 - Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase), mRNA (cDNA clone MGC:23901 IMAGE:4734861), complete cds. AK295987 - Homo sapiens cDNA FLJ55978 complete cds, highly similar to NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor (EC 1.6.5.3). AK298320 - Homo sapiens cDNA FLJ55879 complete cds, highly similar to NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor (EC 1.6.5.3). JD503916 - Sequence 484940 from Patent EP1572962. JD374885 - Sequence 355909 from Patent EP1572962. CU680198 - Synthetic construct Homo sapiens gateway clone IMAGE:100018616 5' read NDUFS1 mRNA. KJ901597 - Synthetic construct Homo sapiens clone ccsbBroadEn_10991 NDUFS1 gene, encodes complete protein. KR710775 - Synthetic construct Homo sapiens clone CCSBHm_00016928 NDUFS1 (NDUFS1) mRNA, encodes complete protein. AB590654 - Synthetic construct DNA, clone: pFN21AE2068, Homo sapiens NDUFS1 gene for NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa, without stop codon, in Flexi system. LF317949 - JP 2014500723-A/125452: Polycomb-Associated Non-Coding RNAs. LF317950 - JP 2014500723-A/125453: Polycomb-Associated Non-Coding RNAs. LF317951 - JP 2014500723-A/125454: Polycomb-Associated Non-Coding RNAs. LF317954 - JP 2014500723-A/125457: Polycomb-Associated Non-Coding RNAs. CU692582 - Synthetic construct Homo sapiens gateway clone IMAGE:100022003 5' read NDUFS1 mRNA. LF317955 - JP 2014500723-A/125458: Polycomb-Associated Non-Coding RNAs. LF317956 - JP 2014500723-A/125459: Polycomb-Associated Non-Coding RNAs. LF317957 - JP 2014500723-A/125460: Polycomb-Associated Non-Coding RNAs. JD231725 - Sequence 212749 from Patent EP1572962. MA619190 - JP 2018138019-A/191116: Polycomb-Associated Non-Coding RNAs. MA553525 - JP 2018138019-A/125451: Polycomb-Associated Non-Coding RNAs. MA553526 - JP 2018138019-A/125452: Polycomb-Associated Non-Coding RNAs. MA553527 - JP 2018138019-A/125453: Polycomb-Associated Non-Coding RNAs. MA553528 - JP 2018138019-A/125454: Polycomb-Associated Non-Coding RNAs. MA553531 - JP 2018138019-A/125457: Polycomb-Associated Non-Coding RNAs. MA553532 - JP 2018138019-A/125458: Polycomb-Associated Non-Coding RNAs. MA553533 - JP 2018138019-A/125459: Polycomb-Associated Non-Coding RNAs. MA553534 - JP 2018138019-A/125460: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
BioCyc Knowledge Library PWY-3781 - aerobic respiration I (cytochrome c)
Reactome (by CSHL, EBI, and GO)
Protein P28331 (Reactome details) participates in the following event(s):
R-HSA-6800870 NDUF subunits bind to form the FP subcomplex R-HSA-6799179 Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex R-HSA-6799196 The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I R-HSA-163217 Complex I oxidises NADH to NAD+, reduces CoQ to QH2 R-HSA-6799198 Complex I biogenesis R-HSA-611105 Respiratory electron transport R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport R-HSA-1430728 Metabolism
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
