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NADH dehydrogenase [ubiquinone] 1 subunit C2 (Complex I-B14.5b) (CI-B14.5b) (Human lung cancer oncogene 1 protein) (HLC-1) (NADH-ubiquinone oxidoreductase subunit B14.5b)

 NDUC2_HUMAN             Reviewed;         119 AA.
O95298; E9PNU8; E9PRB2; Q549M5; Q6FIH8; Q9UBJ9;
15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
01-MAY-1999, sequence version 1.
23-MAY-2018, entry version 148.
RecName: Full=NADH dehydrogenase [ubiquinone] 1 subunit C2;
AltName: Full=Complex I-B14.5b;
Short=CI-B14.5b;
AltName: Full=Human lung cancer oncogene 1 protein;
Short=HLC-1;
AltName: Full=NADH-ubiquinone oxidoreductase subunit B14.5b;
Name=NDUFC2; ORFNames=HLC1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=9878551; DOI=10.1006/bbrc.1998.9786;
Loeffen J.L.C.M., Triepels R.H., van den Heuvel L.P., Schuelke M.,
Buskens C.A.F., Smeets R.J.P., Trijbels J.M.F., Smeitink J.A.M.;
"cDNA of eight nuclear encoded subunits of NADH:ubiquinone
oxidoreductase: human complex I cDNA characterization completed.";
Biochem. Biophys. Res. Commun. 253:415-422(1998).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
Dai F.Y., Yu L., Yang J., Huang H.B., Wang X.K., Zhao S.Y.;
"Cloning and expression of a new human cDNA homology to B.taurus NADH
dehydrogenase (ubiquinone) mRNA.";
Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-46.
TISSUE=Umbilical cord blood;
PubMed=11042152; DOI=10.1101/gr.140200;
Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
"Cloning and functional analysis of cDNAs with open reading frames for
300 previously undefined genes expressed in CD34+ hematopoietic
stem/progenitor cells.";
Genome Res. 10:1546-1560(2000).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-46.
TISSUE=Kidney;
PubMed=11230166; DOI=10.1101/gr.GR1547R;
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
Wambutt R., Korn B., Klein M., Poustka A.;
"Towards a catalog of human genes and proteins: sequencing and
analysis of 500 novel complete protein coding human cDNAs.";
Genome Res. 11:422-435(2001).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-46.
Kim J.W.;
"Identification of a new oncogene in human cancer.";
Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-46.
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
"Cloning of human full open reading frames in Gateway(TM) system entry
vector (pDONR201).";
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16554811; DOI=10.1038/nature04632;
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
Sakaki Y.;
"Human chromosome 11 DNA sequence and analysis including novel gene
identification.";
Nature 440:497-500(2006).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Ovary;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX,
IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION.
PubMed=12611891; DOI=10.1074/jbc.C300064200;
Murray J., Zhang B., Taylor S.W., Oglesbee D., Fahy E., Marusich M.F.,
Ghosh S.S., Capaldi R.A.;
"The subunit composition of the human NADH dehydrogenase obtained by
rapid one-step immunopurification.";
J. Biol. Chem. 278:13619-13622(2003).
[11]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[12]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=25944712; DOI=10.1002/pmic.201400617;
Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M.,
Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
"N-terminome analysis of the human mitochondrial proteome.";
Proteomics 15:2519-2524(2015).
[13]
FUNCTION, AND IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE
COMPLEX.
PubMed=27626371; DOI=10.1038/nature19754;
Stroud D.A., Surgenor E.E., Formosa L.E., Reljic B., Frazier A.E.,
Dibley M.G., Osellame L.D., Stait T., Beilharz T.H., Thorburn D.R.,
Salim A., Ryan M.T.;
"Accessory subunits are integral for assembly and function of human
mitochondrial complex I.";
Nature 538:123-126(2016).
-!- FUNCTION: Accessory subunit of the mitochondrial membrane
respiratory chain NADH dehydrogenase (Complex I), that is believed
not to be involved in 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. {ECO:0000269|PubMed:27626371}.
-!- SUBUNIT: Complex I is composed of 45 different subunits.
{ECO:0000269|PubMed:12611891, ECO:0000269|PubMed:27626371}.
-!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
{ECO:0000305|PubMed:12611891}; Single-pass membrane protein
{ECO:0000255}; Matrix side {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=3;
IsoId=O95298-1; Sequence=Displayed;
Name=4;
IsoId=O95298-2; Sequence=VSP_047317;
Note=Gene prediction based on EST data.;
Name=5;
IsoId=O95298-3; Sequence=VSP_047318;
Note=Gene prediction based on EST data.;
Name=2; Synonyms=NDUFC2-KCTD14;
IsoId=E9PQ53-1; Sequence=External;
Note=Based on a readthrough transcript which may produce a
NDUFC2-KCTD14 fusion protein. No experimental confirmation
available.;
-!- SIMILARITY: Belongs to the complex I NDUFC2 subunit family.
{ECO:0000305}.
-----------------------------------------------------------------------
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Distributed under the Creative Commons Attribution-NoDerivs License
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EMBL; AF087659; AAD09754.1; -; mRNA.
EMBL; AF087899; AAP97198.1; -; mRNA.
EMBL; AF070652; AAD20958.1; -; mRNA.
EMBL; AL050278; CAB43379.1; -; mRNA.
EMBL; AF369951; AAM21294.1; -; mRNA.
EMBL; CR533448; CAG38479.1; -; mRNA.
EMBL; AP003032; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471076; EAW75046.1; -; Genomic_DNA.
EMBL; BC007323; AAH07323.1; -; mRNA.
CCDS; CCDS55779.1; -. [O95298-2]
CCDS; CCDS55781.1; -. [O95298-3]
CCDS; CCDS8257.1; -. [O95298-1]
PIR; T08728; T08728.
RefSeq; NP_001190983.1; NM_001204054.1. [O95298-3]
RefSeq; NP_001190984.1; NM_001204055.1. [O95298-2]
RefSeq; NP_004540.1; NM_004549.5. [O95298-1]
UniGene; Hs.407860; -.
PDB; 5XTC; EM; 3.70 A; g=1-119.
PDB; 5XTD; EM; 3.70 A; g=1-119.
PDB; 5XTH; EM; 3.90 A; g=1-119.
PDB; 5XTI; EM; 17.40 A; Bg/g=1-119.
PDBsum; 5XTC; -.
PDBsum; 5XTD; -.
PDBsum; 5XTH; -.
PDBsum; 5XTI; -.
ProteinModelPortal; O95298; -.
SMR; O95298; -.
BioGrid; 110798; 28.
CORUM; O95298; -.
IntAct; O95298; 5.
MINT; O95298; -.
STRING; 9606.ENSP00000281031; -.
ChEMBL; CHEMBL2363065; -.
DrugBank; DB01136; Carvedilol.
DrugBank; DB00157; NADH.
iPTMnet; O95298; -.
PhosphoSitePlus; O95298; -.
BioMuta; NDUFC2; -.
EPD; O95298; -.
PaxDb; O95298; -.
PeptideAtlas; O95298; -.
PRIDE; O95298; -.
TopDownProteomics; O95298-1; -. [O95298-1]
DNASU; 4718; -.
Ensembl; ENST00000281031; ENSP00000281031; ENSG00000151366. [O95298-1]
Ensembl; ENST00000525085; ENSP00000434262; ENSG00000151366. [O95298-2]
Ensembl; ENST00000527806; ENSP00000432739; ENSG00000151366. [O95298-3]
GeneID; 4718; -.
KEGG; hsa:4718; -.
UCSC; uc009yuw.4; human. [O95298-1]
CTD; 4718; -.
DisGeNET; 4718; -.
EuPathDB; HostDB:ENSG00000151366.12; -.
GeneCards; NDUFC2; -.
HGNC; HGNC:7706; NDUFC2.
HPA; HPA038873; -.
HPA; HPA056195; -.
MIM; 603845; gene.
neXtProt; NX_O95298; -.
OpenTargets; ENSG00000151366; -.
PharmGKB; PA31517; -.
eggNOG; KOG4516; Eukaryota.
eggNOG; ENOG410Y341; LUCA.
GeneTree; ENSGT00390000010352; -.
HOGENOM; HOG000113753; -.
HOVERGEN; HBG001727; -.
InParanoid; O95298; -.
KO; K03968; -.
OMA; IVEPFHP; -.
OrthoDB; EOG091G0ZKK; -.
PhylomeDB; O95298; -.
TreeFam; TF314723; -.
Reactome; R-HSA-611105; Respiratory electron transport.
Reactome; R-HSA-6798695; Neutrophil degranulation.
Reactome; R-HSA-6799198; Complex I biogenesis.
GeneWiki; NDUFC2; -.
GenomeRNAi; 4718; -.
PRO; PR:O95298; -.
Proteomes; UP000005640; Chromosome 11.
Bgee; ENSG00000151366; -.
CleanEx; HS_NDUFC2; -.
ExpressionAtlas; O95298; baseline and differential.
Genevisible; O95298; HS.
GO; GO:0035577; C:azurophil granule membrane; TAS:Reactome.
GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
GO; GO:0005747; C:mitochondrial respiratory chain complex I; IDA:UniProtKB.
GO; GO:0005739; C:mitochondrion; IDA:HPA.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0008137; F:NADH dehydrogenase (ubiquinone) activity; NAS:UniProtKB.
GO; GO:0006120; P:mitochondrial electron transport, NADH to ubiquinone; NAS:UniProtKB.
GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IMP:UniProtKB.
GO; GO:0043312; P:neutrophil degranulation; TAS:Reactome.
InterPro; IPR009423; NADH-UbQ_OxRdtase_b14.5b_su.
PANTHER; PTHR13099; PTHR13099; 1.
Pfam; PF06374; NDUF_C2; 1.
PIRSF; PIRSF017834; NADH-UbQ_OxRdtase_b14.5b; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Complete proteome;
Electron transport; Membrane; Mitochondrion;
Mitochondrion inner membrane; Polymorphism; Reference proteome;
Respiratory chain; Transmembrane; Transmembrane helix; Transport.
CHAIN 1 119 NADH dehydrogenase [ubiquinone] 1 subunit
C2.
/FTId=PRO_0000118837.
TRANSMEM 56 75 Helical. {ECO:0000255}.
VAR_SEQ 56 78 Missing (in isoform 4). {ECO:0000305}.
/FTId=VSP_047317.
VAR_SEQ 77 119 REDYLYAVRDREMFGYMKLHPEDFPEEDKKTYGEIFEKFHP
IR -> LEAYANLYVDTL (in isoform 5).
{ECO:0000305}.
/FTId=VSP_047318.
VARIANT 46 46 L -> V (in dbSNP:rs8875).
{ECO:0000269|PubMed:11042152,
ECO:0000269|PubMed:11230166,
ECO:0000269|Ref.5, ECO:0000269|Ref.6}.
/FTId=VAR_014486.
SEQUENCE 119 AA; 14188 MW; 9A47DEE33DC9244D CRC64;
MIARRNPEPL RFLPDEARSL PPPKLTDPRL LYIGFLGYCS GLIDNLIRRR PIATAGLHRQ
LLYITAFFFA GYYLVKREDY LYAVRDREMF GYMKLHPEDF PEEDKKTYGE IFEKFHPIR


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