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MGP002063

Record overview

MGPD IDMGP002063
Gene ID4720
SpeciesHomo sapiens (Human)
Gene NameNADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
Gene Symbol NDUFS2
SynonymsCI-49;
Alternate namesNADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial; CI-49kD; NADH-ubiquinone oxidoreductase 49 kDa subunit; NADH-ubiquinone oxidoreductase NDUFS2 subunit; complex 1, mitochondrial respiratory chain, 49-KD subunit; complex I 49kDa subunit; complex I-49kD;
Chromosome1
Map Location1q23
EC Number1.6.5.3
SummaryThe protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
OrthologsView orthologs and multiple alignments for NDUFS2

Proteins

NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1 precursor
Refseq ID:NP_004541
Protein GI:4758786
UniProt ID:O75306
mRNA ID:NM_004550
Length:463
RefSeq Status:
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVME
LSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRLLNHIMAVTTHALDLGAMTPF
FWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDDAKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAI
EAPKGEFGVYLVSDGSSRPYRCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTQDIVFGEVDR
 
transit_peptide: 1..33
calculated_mol_wt: 3390
peptide sequence: 
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRG

mat_peptide: 34..457
product: NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2
calculated_mol_wt: 48480
peptide sequence: 
VRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQAL
PYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRLLNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVH
QDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQWDLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCR
VEEMRQSLRIIAQCLNKMPPGEIKVDDAKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPYRCKIKAPGFAHLA
GLDKMSKGHMLADVVAIIGTRPIV

transit_peptide: 1..33
calculated_mol_wt: 3390
peptide sequence: 
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRG

mat_peptide: 34..463
product: NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1
calculated_mol_wt: 49174
peptide sequence: 
VRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQAL
PYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRLLNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVH
QDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQWDLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCR
VEEMRQSLRIIAQCLNKMPPGEIKVDDAKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPYRCKIKAPGFAHLA
GLDKMSKGHMLADVVAIIGTQDIVFGEVDR
 
NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor
Refseq ID:NP_001159631
Protein GI:260898743
UniProt ID:O75306
mRNA ID:NM_001166159
Length:457
RefSeq Status:
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVME
LSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRLLNHIMAVTTHALDLGAMTPF
FWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDDAKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAI
EAPKGEFGVYLVSDGSSRPYRCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTRPIV
 
transit_peptide: 1..33
calculated_mol_wt: 3390
peptide sequence: 
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRG

mat_peptide: 34..457
product: NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2
calculated_mol_wt: 48480
peptide sequence: 
VRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQAL
PYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRLLNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVH
QDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQWDLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCR
VEEMRQSLRIIAQCLNKMPPGEIKVDDAKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPYRCKIKAPGFAHLA
GLDKMSKGHMLADVVAIIGTRPIV
 
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