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Protein

NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial

Gene

NDUFS3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for 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 (By similarity).By similarity

Catalytic activityi

NADH + ubiquinone + 5 H+(In) = NAD+ + ubiquinol + 4 H+(Out).
NADH + acceptor = NAD+ + reduced acceptor.

GO - Molecular functioni

  1. electron carrier activity Source: UniProtKB
  2. NADH dehydrogenase (ubiquinone) activity Source: UniProtKB
  3. NADH dehydrogenase activity Source: UniProtKB

GO - Biological processi

  1. cellular metabolic process Source: Reactome
  2. mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
  3. negative regulation of cell growth Source: UniProtKB
  4. negative regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
  5. reactive oxygen species metabolic process Source: UniProtKB
  6. respiratory electron transport chain Source: Reactome
  7. small molecule metabolic process Source: Reactome
  8. substantia nigra development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Keywords - Ligandi

NAD, Ubiquinone

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial (EC:1.6.5.3, EC:1.6.99.3)
Alternative name(s):
Complex I-30kD
Short name:
CI-30kD
NADH-ubiquinone oxidoreductase 30 kDa subunit
Gene namesi
Name:NDUFS3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:7710. NDUFS3.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial inner membrane Source: Reactome
  2. mitochondrial membrane Source: UniProtKB
  3. mitochondrial respiratory chain complex I Source: UniProtKB
  4. mitochondrion Source: UniProtKB
  5. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA31520.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3636Mitochondrion1 PublicationAdd
BLAST
Chaini37 – 264228NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrialPRO_0000019998Add
BLAST

Proteomic databases

MaxQBiO75489.
PaxDbiO75489.
PeptideAtlasiO75489.
PRIDEiO75489.

2D gel databases

REPRODUCTION-2DPAGEIPI00025796.
O75489.

PTM databases

PhosphoSiteiO75489.

Expressioni

Gene expression databases

BgeeiO75489.
CleanExiHS_NDUFS3.
ExpressionAtlasiO75489. baseline and differential.
GenevestigatoriO75489.

Organism-specific databases

HPAiHPA004484.

Interactioni

Subunit structurei

Mammalian complex I is composed of 45 different subunits. Interacts with NDUFAF3.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NDUFS2O753065EBI-1224896,EBI-1224806

Protein-protein interaction databases

BioGridi110801. 60 interactions.
IntActiO75489. 22 interactions.
MINTiMINT-3001344.
STRINGi9606.ENSP00000263774.

Structurei

3D structure databases

ProteinModelPortaliO75489.
SMRiO75489. Positions 48-204.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I 30 kDa subunit family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0852.
GeneTreeiENSGT00390000017480.
HOGENOMiHOG000009797.
HOVERGENiHBG000450.
InParanoidiO75489.
KOiK03936.
OMAiNTPWEVF.
OrthoDBiEOG7R56TC.
PhylomeDBiO75489.
TreeFamiTF314794.

Family and domain databases

HAMAPiMF_01357. NDH1_NuoC.
InterProiIPR010218. NADH_DH_suC.
IPR001268. NADH_UbQ_OxRdtase_30kDa_su.
IPR020396. NADH_UbQ_OxRdtase_CS.
[Graphical view]
PfamiPF00329. Complex1_30kDa. 1 hit.
[Graphical view]
ProDomiPD001581. NADH_UbQ_OxRdtase_30kDa_su. 1 hit.
[Graphical view] [Entries sharing at least one domain]
TIGRFAMsiTIGR01961. NuoC_fam. 1 hit.
PROSITEiPS00542. COMPLEX1_30K. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75489-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAAAVARLW WRGILGASAL TRGTGRPSVL LLPVRRESAG ADTRPTVRPR
60 70 80 90 100
NDVAHKQLSA FGEYVAEILP KYVQQVQVSC FNELEVCIHP DGVIPVLTFL
110 120 130 140 150
RDHTNAQFKS LVDLTAVDVP TRQNRFEIVY NLLSLRFNSR IRVKTYTDEL
160 170 180 190 200
TPIESAVSVF KAANWYEREI WDMFGVFFAN HPDLRRILTD YGFEGHPFRK
210 220 230 240 250
DFPLSGYVEL RYDDEVKRVV AEPVELAQEF RKFDLNSPWE AFPVYRQPPE
260
SLKLEAGDKK PDAK
Length:264
Mass (Da):30,242
Last modified:November 1, 1998 - v1
Checksum:iC058D62779BEF17B
GO
Isoform 2 (identifier: O75489-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     128-132: IVYNL → VSWEI
     133-264: Missing.

Note: No experimental confirmation available.

Show »
Length:132
Mass (Da):14,679
Checksum:iF56D4EA3021A11EF
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1 – 77MAAAAVA → MAAGRY (PubMed:10931946).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti249 – 2491P → Q.
Corresponds to variant rs9600 [ dbSNP | Ensembl ].
VAR_012036

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei128 – 1325IVYNL → VSWEI in isoform 2. 1 PublicationVSP_057065
Alternative sequencei133 – 264132Missing in isoform 2. 1 PublicationVSP_057066Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF067139 mRNA. Translation: AAC27451.1.
AF200954 Genomic DNA. Translation: AAG17541.1.
AF100743 mRNA. Translation: AAD40386.1.
AK294167 mRNA. Translation: BAG57489.1.
AK313802 mRNA. Translation: BAG36538.1.
AC090559 Genomic DNA. No translation available.
AC104942 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW67895.1.
BC000617 mRNA. Translation: AAH00617.1.
CCDSiCCDS7941.1. [O75489-1]
PIRiJE0195.
RefSeqiNP_004542.1. NM_004551.2. [O75489-1]
UniGeneiHs.502528.

Genome annotation databases

EnsembliENST00000263774; ENSP00000263774; ENSG00000213619. [O75489-1]
ENST00000534716; ENSP00000434970; ENSG00000213619. [O75489-2]
GeneIDi4722.
KEGGihsa:4722.
UCSCiuc001nft.3. human. [O75489-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF067139 mRNA. Translation: AAC27451.1.
AF200954 Genomic DNA. Translation: AAG17541.1.
AF100743 mRNA. Translation: AAD40386.1.
AK294167 mRNA. Translation: BAG57489.1.
AK313802 mRNA. Translation: BAG36538.1.
AC090559 Genomic DNA. No translation available.
AC104942 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW67895.1.
BC000617 mRNA. Translation: AAH00617.1.
CCDSiCCDS7941.1. [O75489-1]
PIRiJE0195.
RefSeqiNP_004542.1. NM_004551.2. [O75489-1]
UniGeneiHs.502528.

3D structure databases

ProteinModelPortaliO75489.
SMRiO75489. Positions 48-204.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110801. 60 interactions.
IntActiO75489. 22 interactions.
MINTiMINT-3001344.
STRINGi9606.ENSP00000263774.

Chemistry

ChEMBLiCHEMBL2363065.
DrugBankiDB00997. Doxorubicin.

PTM databases

PhosphoSiteiO75489.

2D gel databases

REPRODUCTION-2DPAGEIPI00025796.
O75489.

Proteomic databases

MaxQBiO75489.
PaxDbiO75489.
PeptideAtlasiO75489.
PRIDEiO75489.

Protocols and materials databases

DNASUi4722.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263774; ENSP00000263774; ENSG00000213619. [O75489-1]
ENST00000534716; ENSP00000434970; ENSG00000213619. [O75489-2]
GeneIDi4722.
KEGGihsa:4722.
UCSCiuc001nft.3. human. [O75489-1]

Organism-specific databases

CTDi4722.
GeneCardsiGC11P047587.
HGNCiHGNC:7710. NDUFS3.
HPAiHPA004484.
MIMi603846. gene.
neXtProtiNX_O75489.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA31520.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0852.
GeneTreeiENSGT00390000017480.
HOGENOMiHOG000009797.
HOVERGENiHBG000450.
InParanoidiO75489.
KOiK03936.
OMAiNTPWEVF.
OrthoDBiEOG7R56TC.
PhylomeDBiO75489.
TreeFamiTF314794.

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

Miscellaneous databases

ChiTaRSiNDUFS3. human.
GeneWikiiNDUFS3.
GenomeRNAii4722.
NextBioi18210.
PROiO75489.
SOURCEiSearch...

Gene expression databases

BgeeiO75489.
CleanExiHS_NDUFS3.
ExpressionAtlasiO75489. baseline and differential.
GenevestigatoriO75489.

Family and domain databases

HAMAPiMF_01357. NDH1_NuoC.
InterProiIPR010218. NADH_DH_suC.
IPR001268. NADH_UbQ_OxRdtase_30kDa_su.
IPR020396. NADH_UbQ_OxRdtase_CS.
[Graphical view]
PfamiPF00329. Complex1_30kDa. 1 hit.
[Graphical view]
ProDomiPD001581. NADH_UbQ_OxRdtase_30kDa_su. 1 hit.
[Graphical view] [Entries sharing at least one domain]
TIGRFAMsiTIGR01961. NuoC_fam. 1 hit.
PROSITEiPS00542. COMPLEX1_30K. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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."
    Loeffen J., van den Heuvel L., Smeets R., Triepels R., Sengers R., Trijbels F., Smeitink J.
    Biochem. Biophys. Res. Commun. 247:751-758(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial Complex I: genomic organization and expression."
    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.
    Mamm. Genome 11:808-810(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Pituitary.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Amygdala and Cerebellum.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Skin.
  8. "Global profiling of protease cleavage sites by chemoselective labeling of protein N-termini."
    Xu G., Shin S.B., Jaffrey S.R.
    Proc. Natl. Acad. Sci. U.S.A. 106:19310-19315(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE [LARGE SCALE ANALYSIS] OF 37-51.
    Tissue: Leukemic T-cell.
  9. Lubec G., Vishwanath V.
    Submitted (FEB-2007) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 126-136 AND 187-199, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Brain and Cajal-Retzius cell.
  10. "The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification."
    Murray J., Zhang B., Taylor S.W., Oglesbee D., Fahy E., Marusich M.F., Ghosh S.S., Capaldi R.A.
    J. Biol. Chem. 278:13619-13622(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
  11. "Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease."
    Saada A., Vogel R.O., Hoefs S.J., van den Brand M.A., Wessels H.J., Willems P.H., Venselaar H., Shaag A., Barghuti F., Reish O., Shohat M., Huynen M.A., Smeitink J.A.M., van den Heuvel L.P., Nijtmans L.G.
    Am. J. Hum. Genet. 84:718-727(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NDUFAF3.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiNDUS3_HUMAN
AccessioniPrimary (citable) accession number: O75489
Secondary accession number(s): B2R9J1, B4DFM8, Q9UNQ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 1, 1998
Last modified: April 1, 2015
This is version 149 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.