NDUC1_HUMAN
ID NDUC1_HUMAN Reviewed; 76 AA.
AC O43677; A8K532; Q3MIJ9;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-1998, sequence version 1.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial;
DE AltName: Full=Complex I-KFYI;
DE Short=CI-KFYI;
DE AltName: Full=NADH-ubiquinone oxidoreductase KFYI subunit;
DE Flags: Precursor;
GN Name=NDUFC1;
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 [MRNA].
RC TISSUE=Heart;
RX PubMed=9425316; DOI=10.1006/bbrc.1997.7707;
RA Ton C., Hwang D.M., Dempsey A.A., Liew C.-C.;
RT "Identification and primary structure of five human NADH-ubiquinone
RT oxidoreductase subunits.";
RL Biochem. Biophys. Res. Commun. 241:589-594(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Umbilical cord blood;
RX PubMed=9653160; DOI=10.1073/pnas.95.14.8175;
RA Mao M., Fu G., Wu J.-S., Zhang Q.-H., Zhou J., Kan L.-X., Huang Q.-H.,
RA He K.-L., Gu B.-W., Han Z.-G., Shen Y., Gu J., Yu Y.-P., Xu S.-H.,
RA Wang Y.-X., Chen S.-J., Chen Z.;
RT "Identification of genes expressed in human CD34(+) hematopoietic
RT stem/progenitor cells by expressed sequence tags and efficient full-length
RT cDNA cloning.";
RL Proc. Natl. Acad. Sci. U.S.A. 95:8175-8180(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, and Skin;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP FUNCTION, AND IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX.
RX PubMed=27626371; DOI=10.1038/nature19754;
RA Stroud D.A., Surgenor E.E., Formosa L.E., Reljic B., Frazier A.E.,
RA Dibley M.G., Osellame L.D., Stait T., Beilharz T.H., Thorburn D.R.,
RA Salim A., Ryan M.T.;
RT "Accessory subunits are integral for assembly and function of human
RT mitochondrial complex I.";
RL Nature 538:123-126(2016).
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. {ECO:0000269|PubMed:27626371}.
CC -!- SUBUNIT: Complex I is composed of 45 different subunits.
CC {ECO:0000269|PubMed:27626371}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000250|UniProtKB:Q02376}; Single-pass membrane protein
CC {ECO:0000250|UniProtKB:Q02376}; Matrix side
CC {ECO:0000250|UniProtKB:Q02376}.
CC -!- SIMILARITY: Belongs to the complex I NDUFC1 subunit family.
CC {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF047184; AAC04269.1; -; mRNA.
DR EMBL; AF047435; AAC39886.1; -; mRNA.
DR EMBL; AK291147; BAF83836.1; -; mRNA.
DR EMBL; CH471056; EAX05121.1; -; Genomic_DNA.
DR EMBL; BC101798; AAI01799.1; -; mRNA.
DR EMBL; BC107682; AAI07683.1; -; mRNA.
DR EMBL; BC112061; AAI12062.1; -; mRNA.
DR CCDS; CCDS3746.1; -.
DR PIR; JC5823; JC5823.
DR RefSeq; NP_001171915.1; NM_001184986.1.
DR RefSeq; NP_001171916.1; NM_001184987.1.
DR RefSeq; NP_001171917.1; NM_001184988.1.
DR RefSeq; NP_001171918.1; NM_001184989.1.
DR RefSeq; NP_001171919.1; NM_001184990.1.
DR RefSeq; NP_001171920.1; NM_001184991.1.
DR RefSeq; NP_002485.1; NM_002494.3.
DR PDB; 5XTC; EM; 3.70 A; f=28-74.
DR PDB; 5XTD; EM; 3.70 A; f=28-74.
DR PDB; 5XTH; EM; 3.90 A; f=28-74.
DR PDB; 5XTI; EM; 17.40 A; Bf/f=28-74.
DR PDBsum; 5XTC; -.
DR PDBsum; 5XTD; -.
DR PDBsum; 5XTH; -.
DR PDBsum; 5XTI; -.
DR AlphaFoldDB; O43677; -.
DR SMR; O43677; -.
DR BioGRID; 110797; 1.
DR ComplexPortal; CPX-577; Mitochondrial respiratory chain complex I.
DR CORUM; O43677; -.
DR STRING; 9606.ENSP00000441126; -.
DR BindingDB; O43677; -.
DR ChEMBL; CHEMBL2363065; -.
DR DrugBank; DB00157; NADH.
DR DrugCentral; O43677; -.
DR iPTMnet; O43677; -.
DR PhosphoSitePlus; O43677; -.
DR BioMuta; NDUFC1; -.
DR EPD; O43677; -.
DR jPOST; O43677; -.
DR MassIVE; O43677; -.
DR MaxQB; O43677; -.
DR PaxDb; O43677; -.
DR PeptideAtlas; O43677; -.
DR PRIDE; O43677; -.
DR ProteomicsDB; 49105; -.
DR TopDownProteomics; O43677; -.
DR Antibodypedia; 49615; 55 antibodies from 21 providers.
DR DNASU; 4717; -.
DR Ensembl; ENST00000394223.2; ENSP00000377770.1; ENSG00000109390.13.
DR Ensembl; ENST00000394228.5; ENSP00000377775.1; ENSG00000109390.13.
DR Ensembl; ENST00000503997.5; ENSP00000425882.1; ENSG00000109390.13.
DR Ensembl; ENST00000505036.5; ENSP00000421195.1; ENSG00000109390.13.
DR Ensembl; ENST00000539002.5; ENSP00000440133.1; ENSG00000109390.13.
DR Ensembl; ENST00000539387.5; ENSP00000439882.1; ENSG00000109390.13.
DR Ensembl; ENST00000544855.5; ENSP00000441126.1; ENSG00000109390.13.
DR GeneID; 4717; -.
DR KEGG; hsa:4717; -.
DR MANE-Select; ENST00000394223.2; ENSP00000377770.1; NM_001184989.2; NP_001171918.1.
DR UCSC; uc003ihs.3; human.
DR CTD; 4717; -.
DR GeneCards; NDUFC1; -.
DR HGNC; HGNC:7705; NDUFC1.
DR HPA; ENSG00000109390; Group enriched (heart muscle, skeletal muscle, tongue).
DR MIM; 603844; gene.
DR neXtProt; NX_O43677; -.
DR OpenTargets; ENSG00000109390; -.
DR PharmGKB; PA31516; -.
DR VEuPathDB; HostDB:ENSG00000109390; -.
DR eggNOG; ENOG502SFTF; Eukaryota.
DR GeneTree; ENSGT00390000002565; -.
DR HOGENOM; CLU_199185_0_0_1; -.
DR InParanoid; O43677; -.
DR OMA; SAFIWGL; -.
DR OrthoDB; 1622769at2759; -.
DR PhylomeDB; O43677; -.
DR TreeFam; TF338333; -.
DR BioCyc; MetaCyc:HS03223-MON; -.
DR PathwayCommons; O43677; -.
DR Reactome; R-HSA-611105; Respiratory electron transport.
DR Reactome; R-HSA-6799198; Complex I biogenesis.
DR SignaLink; O43677; -.
DR SIGNOR; O43677; -.
DR BioGRID-ORCS; 4717; 129 hits in 1052 CRISPR screens.
DR ChiTaRS; NDUFC1; human.
DR GeneWiki; NDUFC1; -.
DR GenomeRNAi; 4717; -.
DR Pharos; O43677; Tclin.
DR PRO; PR:O43677; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; O43677; protein.
DR Bgee; ENSG00000109390; Expressed in renal medulla and 210 other tissues.
DR ExpressionAtlas; O43677; baseline and differential.
DR Genevisible; O43677; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:ComplexPortal.
DR GO; GO:0005747; C:mitochondrial respiratory chain complex I; IDA:UniProtKB.
DR GO; GO:0008137; F:NADH dehydrogenase (ubiquinone) activity; TAS:ProtInc.
DR GO; GO:0009060; P:aerobic respiration; IC:ComplexPortal.
DR GO; GO:0006120; P:mitochondrial electron transport, NADH to ubiquinone; TAS:ProtInc.
DR GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IMP:UniProtKB.
DR GO; GO:0042776; P:proton motive force-driven mitochondrial ATP synthesis; IC:ComplexPortal.
DR InterPro; IPR026192; NDUFC1.
DR PANTHER; PTHR17097; PTHR17097; 1.
DR Pfam; PF15088; NADH_dh_m_C1; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Electron transport; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Respiratory chain;
KW Transit peptide; Transmembrane; Transmembrane helix; Transport.
FT TRANSIT 1..27
FT /note="Mitochondrion"
FT /evidence="ECO:0000250"
FT CHAIN 28..76
FT /note="NADH dehydrogenase [ubiquinone] 1 subunit C1,
FT mitochondrial"
FT /id="PRO_0000020049"
FT TRANSMEM 41..59
FT /note="Helical"
FT /evidence="ECO:0000255"
SQ SEQUENCE 76 AA; 8734 MW; 7EEDEDE477E12B5E CRC64;
MAPSALLRPL SRLLAPARLP SGPSVRSKFY VREPPNAKPD WLKVGFTLGT TVFLWIYLIK
QHNEDILEYK RRNGLE
