NDUCR_HUMAN
ID NDUCR_HUMAN Reviewed; 114 AA.
AC E9PQ53;
DT 26-JUN-2013, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 1.
DT 03-AUG-2022, entry version 74.
DE RecName: Full=NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2;
DE AltName: Full=NDUFC2-KCTD14 readthrough transcript protein;
GN Name=NDUFC2-KCTD14;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [2]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Accessory subunit of the mitochondrial membrane respiratory
CC chain NADH dehydrogenase (Complex I), that is believed not to be
CC involved in catalysis. Complex I functions in the transfer of electrons
CC from NADH to the respiratory chain. The immediate electron acceptor for
CC the enzyme is believed to be ubiquinone (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Complex I is composed of 45 different subunits.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250};
CC Single-pass membrane protein {ECO:0000250}; Matrix side {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=2; Synonyms=NDUFC2-KCTD14;
CC IsoId=E9PQ53-1; Sequence=Displayed;
CC Name=1;
CC IsoId=Q9BQ13-1; Sequence=External;
CC Name=3;
CC IsoId=O95298-1; Sequence=External;
CC -!- MISCELLANEOUS: [Isoform 2]: Based on a readthrough transcript which may
CC produce a NDUFC2-KCTD14 fusion protein.
CC -!- SIMILARITY: Belongs to the complex I NDUFC2 subunit family.
CC {ECO:0000305}.
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DR EMBL; AP003032; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS55780.1; -. [E9PQ53-1]
DR RefSeq; NP_001190190.1; NM_001203261.1. [E9PQ53-1]
DR AlphaFoldDB; E9PQ53; -.
DR SMR; E9PQ53; -.
DR BioGRID; 1529408; 1.
DR IntAct; E9PQ53; 1.
DR STRING; 9606.ENSP00000432614; -.
DR BioMuta; NDUFC2-KCTD14; -.
DR jPOST; E9PQ53; -.
DR MassIVE; E9PQ53; -.
DR PaxDb; E9PQ53; -.
DR PeptideAtlas; E9PQ53; -.
DR PRIDE; E9PQ53; -.
DR DNASU; 100532726; -.
DR Ensembl; ENST00000530054.1; ENSP00000432614.1; ENSG00000259112.2. [E9PQ53-1]
DR GeneID; 100532726; -.
DR KEGG; hsa:100532726; -.
DR UCSC; uc021qns.2; human. [E9PQ53-1]
DR CTD; 100532726; -.
DR DisGeNET; 100532726; -.
DR GeneCards; NDUFC2-KCTD14; -.
DR HGNC; HGNC:42956; NDUFC2-KCTD14.
DR HPA; ENSG00000259112; Low tissue specificity.
DR MalaCards; NDUFC2-KCTD14; -.
DR neXtProt; NX_E9PQ53; -.
DR OpenTargets; ENSG00000259112; -.
DR VEuPathDB; HostDB:ENSG00000259112; -.
DR eggNOG; KOG4516; Eukaryota.
DR GeneTree; ENSGT00390000010352; -.
DR HOGENOM; CLU_156652_0_0_1; -.
DR InParanoid; E9PQ53; -.
DR OMA; YMSAITH; -.
DR PhylomeDB; E9PQ53; -.
DR TreeFam; TF314723; -.
DR PathwayCommons; E9PQ53; -.
DR BioGRID-ORCS; 100532726; 225 hits in 621 CRISPR screens.
DR ChiTaRS; NDUFC2-KCTD14; human.
DR GenomeRNAi; 100532726; -.
DR Pharos; E9PQ53; Tdark.
DR PRO; PR:E9PQ53; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; E9PQ53; protein.
DR Bgee; ENSG00000259112; Expressed in hindlimb stylopod muscle and 102 other tissues.
DR ExpressionAtlas; E9PQ53; baseline.
DR Genevisible; E9PQ53; HS.
DR GO; GO:0005747; C:mitochondrial respiratory chain complex I; IBA:GO_Central.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0006120; P:mitochondrial electron transport, NADH to ubiquinone; IEA:InterPro.
DR InterPro; IPR009423; NDUC2.
DR PANTHER; PTHR13099; PTHR13099; 1.
DR Pfam; PF06374; NDUF_C2; 1.
DR PIRSF; PIRSF017834; NADH-UbQ_OxRdtase_b14.5b; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Electron transport; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Respiratory chain;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..114
FT /note="NADH dehydrogenase [ubiquinone] 1 subunit C2,
FT isoform 2"
FT /id="PRO_0000422827"
FT TRANSMEM 56..75
FT /note="Helical"
FT /evidence="ECO:0000255"
SQ SEQUENCE 114 AA; 13408 MW; 9FBB696B32A2BC52 CRC64;
MIARRNPEPL RFLPDEARSL PPPKLTDPRL LYIGFLGYCS GLIDNLIRRR PIATAGLHRQ
LLYITAFFFA GYYLVKREDY LYAVRDREMF GYMKLHPEDF PEEDVYCCGA ERRG
