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Protein

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3

Gene

NDUFB3

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

Functioni

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.1 Publication

GO - Molecular functioni

  • NADH dehydrogenase (ubiquinone) activity Source: ProtInc

GO - Biological processi

  • mitochondrial electron transport, NADH to ubiquinone Source: ProtInc
  • mitochondrial respiratory chain complex I assembly Source: UniProtKB

Keywordsi

Biological processElectron transport, Respiratory chain, Transport

Enzyme and pathway databases

ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3
Alternative name(s):
Complex I-B12
Short name:
CI-B12
NADH-ubiquinone oxidoreductase B12 subunit
Gene namesi
Name:NDUFB3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000119013.8
HGNCiHGNC:7698 NDUFB3
MIMi603839 gene
neXtProtiNX_O43676

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei66 – 88HelicalSequence analysisAdd BLAST23

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex I deficiency (MT-C1D)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
See also OMIM:252010
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07893922W → R in MT-C1D. 2 PublicationsCorresponds to variant dbSNP:rs142609245EnsemblClinVar.1
Natural variantiVAR_07894070 – 98Missing in MT-C1D. 1 PublicationAdd BLAST29

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4709
MalaCardsiNDUFB3
MIMi252010 phenotype
OpenTargetsiENSG00000119013
Orphaneti2609 Isolated complex I deficiency
PharmGKBiPA31504

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00157 NADH

Polymorphism and mutation databases

BioMutaiNDUFB3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00001187972 – 98NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3Add BLAST97

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineBy similarity1
Modified residuei5MethylhistidineBy similarity1
Modified residuei7MethylhistidineBy similarity1
Modified residuei9MethylhistidineBy similarity1
Modified residuei23N6-acetyllysine; alternateBy similarity1
Modified residuei23N6-succinyllysine; alternateBy similarity1
Modified residuei34N6-acetyllysine; alternateBy similarity1
Modified residuei34N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation, Methylation

Proteomic databases

EPDiO43676
PaxDbiO43676
PeptideAtlasiO43676
PRIDEiO43676
ProteomicsDBi49104
TopDownProteomicsiO43676

PTM databases

iPTMnetiO43676
PhosphoSitePlusiO43676

Expressioni

Gene expression databases

BgeeiENSG00000119013 Expressed in 234 organ(s), highest expression level in myocardium
CleanExiHS_NDUFB3
ExpressionAtlasiO43676 baseline and differential
GenevisibleiO43676 HS

Organism-specific databases

HPAiHPA034596

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits.2 Publications

Protein-protein interaction databases

BioGridi110789, 34 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiO43676
IntActiO43676, 11 interactors
MINTiO43676
STRINGi9606.ENSP00000237889

Structurei

3D structure databases

ProteinModelPortaliO43676
SMRiO43676
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I NDUFB3 subunit family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4631 Eukaryota
ENOG411294X LUCA
GeneTreeiENSGT00390000010316
HOGENOMiHOG000173088
HOVERGENiHBG006448
InParanoidiO43676
KOiK03959
OMAiEAWRYEP
OrthoDBiEOG091G0WN1
PhylomeDBiO43676
TreeFamiTF319656

Family and domain databases

InterProiView protein in InterPro
IPR012576 NDUFB3
PANTHERiPTHR15082 PTHR15082, 1 hit
PfamiView protein in Pfam
PF08122 NDUF_B12, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

O43676-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAHEHGHEHG HHKMELPDYR QWKIEGTPLE TIQKKLAAKG LRDPWGRNEA
60 70 80 90
WRYMGGFAKS VSFSDVFFKG FKWGFAAFVV AVGAEYYLES LNKDKKHH
Length:98
Mass (Da):11,402
Last modified:January 23, 2007 - v3
Checksum:i1C77F0C7A4DC757F
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JKQ2C9JKQ2_HUMAN
NADH dehydrogenase [ubiquinone] 1 b...
NDUFB3
65Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07893922W → R in MT-C1D. 2 PublicationsCorresponds to variant dbSNP:rs142609245EnsemblClinVar.1
Natural variantiVAR_07894070 – 98Missing in MT-C1D. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF047183 mRNA Translation: AAC04268.1
AF035839 mRNA Translation: AAC15590.1
CR456924 mRNA Translation: CAG33205.1
AC007272 Genomic DNA Translation: AAX88972.1
CH471063 Genomic DNA Translation: EAW70233.1
BC018183 mRNA Translation: AAH18183.1
CCDSiCCDS2336.1
PIRiJC5822
RefSeqiNP_001244031.1, NM_001257102.1
NP_002482.1, NM_002491.2
XP_011509532.1, XM_011511230.2
XP_016859675.1, XM_017004186.1
UniGeneiHs.109760

Genome annotation databases

EnsembliENST00000237889; ENSP00000237889; ENSG00000119013
ENST00000433898; ENSP00000410600; ENSG00000119013
ENST00000454214; ENSP00000407336; ENSG00000119013
GeneIDi4709
KEGGihsa:4709
UCSCiuc002uwx.6 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF047183 mRNA Translation: AAC04268.1
AF035839 mRNA Translation: AAC15590.1
CR456924 mRNA Translation: CAG33205.1
AC007272 Genomic DNA Translation: AAX88972.1
CH471063 Genomic DNA Translation: EAW70233.1
BC018183 mRNA Translation: AAH18183.1
CCDSiCCDS2336.1
PIRiJC5822
RefSeqiNP_001244031.1, NM_001257102.1
NP_002482.1, NM_002491.2
XP_011509532.1, XM_011511230.2
XP_016859675.1, XM_017004186.1
UniGeneiHs.109760

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XTCelectron microscopy3.70Z10-89[»]
5XTDelectron microscopy3.70Z10-89[»]
5XTHelectron microscopy3.90Z10-89[»]
5XTIelectron microscopy17.40BZ/Z10-89[»]
ProteinModelPortaliO43676
SMRiO43676
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110789, 34 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiO43676
IntActiO43676, 11 interactors
MINTiO43676
STRINGi9606.ENSP00000237889

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00157 NADH

PTM databases

iPTMnetiO43676
PhosphoSitePlusiO43676

Polymorphism and mutation databases

BioMutaiNDUFB3

Proteomic databases

EPDiO43676
PaxDbiO43676
PeptideAtlasiO43676
PRIDEiO43676
ProteomicsDBi49104
TopDownProteomicsiO43676

Protocols and materials databases

DNASUi4709
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000237889; ENSP00000237889; ENSG00000119013
ENST00000433898; ENSP00000410600; ENSG00000119013
ENST00000454214; ENSP00000407336; ENSG00000119013
GeneIDi4709
KEGGihsa:4709
UCSCiuc002uwx.6 human

Organism-specific databases

CTDi4709
DisGeNETi4709
EuPathDBiHostDB:ENSG00000119013.8
GeneCardsiNDUFB3
HGNCiHGNC:7698 NDUFB3
HPAiHPA034596
MalaCardsiNDUFB3
MIMi252010 phenotype
603839 gene
neXtProtiNX_O43676
OpenTargetsiENSG00000119013
Orphaneti2609 Isolated complex I deficiency
PharmGKBiPA31504
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4631 Eukaryota
ENOG411294X LUCA
GeneTreeiENSGT00390000010316
HOGENOMiHOG000173088
HOVERGENiHBG006448
InParanoidiO43676
KOiK03959
OMAiEAWRYEP
OrthoDBiEOG091G0WN1
PhylomeDBiO43676
TreeFamiTF319656

Enzyme and pathway databases

ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis

Miscellaneous databases

ChiTaRSiNDUFB3 human
GenomeRNAii4709
PROiPR:O43676
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119013 Expressed in 234 organ(s), highest expression level in myocardium
CleanExiHS_NDUFB3
ExpressionAtlasiO43676 baseline and differential
GenevisibleiO43676 HS

Family and domain databases

InterProiView protein in InterPro
IPR012576 NDUFB3
PANTHERiPTHR15082 PTHR15082, 1 hit
PfamiView protein in Pfam
PF08122 NDUF_B12, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNDUB3_HUMAN
AccessioniPrimary (citable) accession number: O43676
Secondary accession number(s): Q6IB80
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 157 of the entry and version 3 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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