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UniProtKB/Swiss-Prot entry O75489


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name NDUS3_HUMAN
Primary accession number O75489
Secondary accession number Q9UNQ8
Integrated into Swiss-Prot on December 15, 1998
Sequence was last modified on November 1, 1998 (Sequence version 1)
Annotations were last modified on    December 16, 2008 (Entry version 79)
Name and origin of the protein
Protein name NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial [Precursor]
Synonyms EC 1.6.5.3
EC 1.6.99.3
NADH-ubiquinone oxidoreductase 30 kDa subunit
Complex I-30kD
CI-30kD
Gene name
Name: NDUFS3
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1006/bbrc.1998.8882; PubMed=9647766 [NCBI, ExPASy, EBI, Israel, Japan]
Loeffen J., van den Heuvel L., Smeets R., Triepels R., Sengers R., Trijbels F., Smeitink J.;
"cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed.";
Biochem. Biophys. Res. Commun. 247:751-758(1998).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1007/s003350010160; PubMed=10967146 [NCBI, ExPASy, EBI, Israel, Japan]
Procaccio V., Lescuyer P., Bourges I., Beugnot R., Duborjal H., Depetris D., Mousson B., Montfort M.F., Smeets H., De Coo R., Issartel J.P.;
"Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial Complex I: genomic organization and expression.";
Mamm. Genome 11:808-810(2000).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Pituitary;
DOI=10.1073/pnas.160270997; PubMed=10931946 [NCBI, ExPASy, EBI, Israel, Japan]
Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.;
"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.";
Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Skin;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
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).
[5]
PROTEIN SEQUENCE OF 126-136 AND 187-199, AND MASS SPECTROMETRY.
TISSUE=Brain, and Cajal-Retzius cell;
Lubec G., Vishwanath V.;
Submitted (MAR-2007) to UniProtKB.
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF067139; AAC27451.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF200954; AAG17541.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF100743; AAD40386.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC000617; AAH00617.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR JE0195; JE0195.
RefSeq NP_004542.1; -.
UniGene Hs.502528
3D structure databases
ModBase O75489.
Protein-protein interaction databases
IntAct O75489; 10.
PTM databases
PhosphoSite O75489; -.
Enzyme and pathway databases
Reactome REACT_6305; Electron Transport Chain.
2D gel databases
REPRODUCTION-2DPAGE IPI00025796; -.
O75489; -.
Organism-specific databases
GeneCards GC11P047544; -.
H-InvDB HIX0009620; -.
HIX0079399; -.
HGNC HGNC:7710; NDUFS3.
GenAtlas NDUFS3.
HPA HPA004484; -.
MIM 603846; gene. [NCBI / EBI]
Orphanet 506; Leigh syndrome.
2609; NADH-CoQ reductase deficiency.
PharmGKB PA31520; -.
GeneCards O75489.
Gene expression databases
ArrayExpress O75489; -.
CleanEx HS_NDUFS3; -.
GermOnline ENSG00000110536; Homo sapiens.
Ontologies
GO
GO:0005747; Cellular component: mitochondrial respiratory chain complex I (inferred from direct assay from UniProtKB).
GO:0009055; Molecular function: electron carrier activity (non-traceable author statement from UniProtKB).
GO:0008137; Molecular function: NADH dehydrogenase (ubiquinone) activity (non-traceable author statement from UniProtKB).
GO:0005515; Molecular function: protein binding (inferred from physical interaction from IntAct).
GO:0006917; Biological process: induction of apoptosis (inferred from mutant phenotype from UniProtKB).
GO:0006120; Biological process: mitochondrial electron transport, NADH to ubiquinone (non-traceable author statement from UniProtKB).
GO:0030308; Biological process: negative regulation of cell growth (inferred from mutant phenotype from UniProtKB).
GO:0006800; Biological process: oxygen and reactive oxygen species metabolic process (inferred from mutant phenotype from UniProtKB).
GO:0006810; Biological process: transport (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR010218; NADH_DH_csu.
IPR001268; NADH_DHase_Ub_30kDa_su.
Graphical view of domain structure.
Pfam PF00329; Complex1_30kDa; 1.
Pfam graphical view of domain structure.
ProDom PD001581; Complex1_30K; 1.
[Domain structure / List of seq. sharing at least 1 domain]
TIGRFAMs TIGR01961; NuoC_fam; 1.
PROSITE PS00542; COMPLEX1_30K; 1.
Proteomic databases
PeptideAtlas O75489; -.
Proteomics databases
PRIDE O75489; -.
Genome annotation databases
Ensembl ENSG00000213619; Homo sapiens. [Contig view]
GeneID 4722; -.
KEGG hsa:4722; -.
NMPDR fig|9606.3.peg.5556; -.
Phylogenomic databases
HOVERGEN O75489; -.
Other
DrugBank DB00157; NADH.
NextBio 18210; -.
SOURCE NDUFS3; Homo sapiens.
ProtoNet O75489.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Direct protein sequencing; Electron transport; Membrane; Mitochondrion; Mitochondrion inner membrane; NAD; Oxidoreductase; Polymorphism; Respiratory chain; Transit peptide; Transport; Ubiquinone.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
TRANSIT   1    36  36     Mitochondrion (By similarity). 
CHAIN   37   264  228     NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial. PRO_0000019998
VARIANT   249   249  1     P -> Q (in dbSNP:rs9600 [NCBI]). VAR_012036 
CONFLICT   1     7        MAAAAVA -> MAAGRY (in Ref. 3). 
Sequence information
Length: 264 AA [This is the length of the unprocessed precursor] Molecular weight: 30242 Da [This is the MW of the unprocessed precursor] CRC64: C058D62779BEF17B [This is a checksum on the sequence]
        10         20         30         40         50         60 
MAAAAVARLW WRGILGASAL TRGTGRPSVL LLPVRRESAG ADTRPTVRPR NDVAHKQLSA 

        70         80         90        100        110        120 
FGEYVAEILP KYVQQVQVSC FNELEVCIHP DGVIPVLTFL RDHTNAQFKS LVDLTAVDVP 

       130        140        150        160        170        180 
TRQNRFEIVY NLLSLRFNSR IRVKTYTDEL TPIESAVSVF KAANWYEREI WDMFGVFFAN 

       190        200        210        220        230        240 
HPDLRRILTD YGFEGHPFRK DFPLSGYVEL RYDDEVKRVV AEPVELAQEF RKFDLNSPWE 

       250        260 
AFPVYRQPPE SLKLEAGDKK PDAK 

O75489 in FASTA format

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View entry in raw text format (no links)
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