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Protein

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3

Gene

NDUFB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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

HGNCiHGNC:7698. NDUFB3.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane Source: Reactome
  • mitochondrial respiratory chain complex I Source: UniProtKB

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 Publications1
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 NADH-CoQ reductase 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.
TopDownProteomicsiO43676.

PTM databases

iPTMnetiO43676.
PhosphoSitePlusiO43676.

Expressioni

Gene expression databases

BgeeiENSG00000119013.
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. 35 interactors.
IntActiO43676. 8 interactors.
MINTiMINT-1416095.
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.

Sequencei

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07893922W → R in MT-C1D. 2 Publications1
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

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: August 30, 2017
This is version 149 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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