NDUFB3 Gene
protein-coding GIFtS: 53
GCID: GC02P201936
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NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa(Previous names: NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD,...)
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Aliases
for NDUFB3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 3, 12kDa1 2 | | NADH-Ubiquinone Oxidoreductase B12 Subunit2 3 | | B121 2 | | NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 3 (12kD, B12)1 | | Complex I-B122 3 | | NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 32 | | CI-B122 3 | | |
Export aliases for NDUFB3 gene to outside databasesPrevious GC identifers: GC02P200153 GC02P200661 GC02P201900 GC02P202139 GC02P201762 GC02P201644 GC02P193787 |
Summaries
for NDUFB3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for NDUFB3:
This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I)which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the innermembrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrialcomplex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humanshave multiple pseudogenes of this gene. (provided by RefSeq, Mar 2012)
UniProtKB/Swiss-Prot: NDUB3_HUMAN, O43676Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that isbelieved not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to therespiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone
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Genomic Views
for NDUFB3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NDUFB3 gene promoter:
AML1a NF-YA POU6F1 (c2) NF-YB HEN1 CBF-B CBF-A CP1A NF-Y CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for NDUFB3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFB3 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q31.3 Ensembl cytogenetic band: 2q33.1 HGNC cytogenetic band: 2q33.1NDUFB3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P201936: view genomic region
(about GC identifiers)
Start:
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201,936,156 bp from pter |
End:
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201,950,473 bp from pter |
Size:
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14,318 bases |
Orientation:
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plus strand |
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Proteins
for NDUFB3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: NDUB3_HUMAN, O43676 (See
protein sequence)Recommended Name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 Size: 98 amino acids; 11402 Da
Subunit: Complex I is composed of 45 different subunits
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein; Matrix side
Secondary accessions: Q6IB80Explore the universe of human proteins at neXtProt for NDUFB3: NX_O43676
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O43676
NDUFB3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001244031.1 NP_002482.1
ENSEMBL proteins: ENSP00000401834 ENSP00000237889 ENSP00000410600 ENSP00000407336 Reactome Protein details: O43676
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
NDUFB3 for ontologies About GeneDecksing
NDUFB3 Antibody Products:
Assay Products for NDUFB3: |
Protein
Domains /
Families
for NDUFB3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NDUFB3 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry O43676ProtoNet protein and cluster: O43676 1 Blocks protein family: IPB012576 NADH-ubiquinone oxidoreductase B12 subunit
UniProtKB/Swiss-Prot: NDUB3_HUMAN, O43676Similarity: Belongs to the complex I NDUFB3 subunit family |
Function
for NDUFB3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: NDUB3_HUMAN, O43676Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that isbelieved not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to therespiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFB3
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFB3 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0008137 | NADH dehydrogenase (ubiquinone) activity |
NAS | 9878551 |
NDUFB3 for ontologies About GeneDecksing
|
Pathways & Interactions
for NDUFB3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
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Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
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| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 2 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for NDUFB3
4 
Reactome Pathways for NDUFB3
5 
Kegg Pathways (Kegg details for NDUFB3):
NDUFB3 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFB3
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/56 Interacting proteins for NDUFB3 (O436762, 3 ENSP000002378894) via UniProtKB, MINT, STRING, and/or I2D (see all 56)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0006120 | mitochondrial electron transport, NADH to ubiquinone |
NAS | 9878551 | | GO:0022904 | respiratory electron transport chain |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
NDUFB3 for ontologies About GeneDecksing
|
Drugs & Compounds
for NDUFB3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for NDUFB3
8 HMDB Compounds for NDUFB3 About this table
1 DrugBank Compound for NDUFB3 About this table
Search CenterWatch for drugs/clinical trials and news about NDUFB3 / NDUB3
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Transcripts
for NDUFB3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for NDUFB3 gene (2 alternative transcripts): NM_001257102.1 NM_002491.2 Unigene Cluster for NDUFB3: NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa Hs.109760 [show with all ESTs]Unigene Representative Sequence: BM5527024 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000450023 ENST00000237889(uc002uwx.4) ENST00000433898 ENST00000454214
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFB3 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFB3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: NDUFB3 (NM_002491) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NDUFB3 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFB3 |
Additional cDNA sequence: AF035839.1 AF047183.1 BC018183.1 CR456924.1 10 DOTS entries: DT.447331 DT.99956714 DT.120963492 DT.97784860 DT.95092387 DT.100692775 DT.95092411 DT.91743226 DT.91743227 DT.91841399 24/256 AceView cDNA sequences (see all 256): F36304 AA043149 F35333 AI096838 AW071006 F25857 BE785812 CK906100 W51839 AI401200 AA776653 AI281082 W67181 BU741396 AI304666 BM127464 AA459854 AI148568 W58515 AW008598 AA040759 BM712878 AI274355 BM021501
GeneLoc Exon Structure
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Expression
for NDUFB3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| NDUFB3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGTGGCTTTG
About this image
See NDUFB3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NDUFB3
SOURCE GeneReport for Unigene cluster: Hs.109760
SABiosciences Expression via Pathway-Focused PCR Array including NDUFB3:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NDUFB3
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFB3 |
Orthologs
for NDUFB3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for NDUFB3 gene from 6/15 species (see all 15) About this table
ENSEMBL Gene Tree for NDUFB3 (if available)
TreeFam Gene Tree for NDUFB3 (if available) |
Paralogs
for NDUFB3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for NDUFB3 gene
NDUFB3 for paralogs About GeneDecksing
4 Pseudogenes.org Pseudogenes for NDUFB3
PGOHUM00000250146 PGOHUM00000250154 PGOHUM00000251068 PGOHUM00000250090
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Genomic Variants
for NDUFB3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for NDUFB3 (201936156 - 201950473 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NDUFB3: --
Human Gene Mutation Database (HGMD): NDUFB3
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for NDUFB3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NDUFB3 for disorders About GeneDecksing
OMIM gene information: 603839
OMIM disorders: --
6  diseases for NDUFB3: About MalaCardsamyotrophic lateral sclerosis (als) amyotrophic lateral sclerosis lateral sclerosis leigh disease
huntington's disease parkinson's disease
1 disease from the University of Copenhagen DISEASES database for NDUFB3:Leigh disease Human Genome Epidemiology (HuGE) Navigator: NDUFB3 (2 documents)
Export disorders for NDUFB3 gene to outside databases
|
Publications
for NDUFB3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for NDUFB3 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with NDUFB3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. (PubMed id 9425316)1, 2, 3 Ton C....Liew C.C. (1997)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (2003)
- Assignment of human NADH dehydrogenase (ubiquinone) 1 beta subcomplex 3 (NDUFB3) and of its four pseudogenes to human chromosomes 2q31.3, 1p13.3-->p13.1, 9q32-->q34.1, 14q22.3-->q23.1 and 14q32.2 by radiation hybrid mapping. (PubMed id 11474204)1, 3 Jensen L.L....Hansen L.L. (2001)
- cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. (PubMed id 9878551)1, 2 Loeffen J.L....Smeitink J.A. (1998)
- Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PubMed id 22277967)1 Calvo S.E.... Mootha V.K. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
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External Searches for NDUFB3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NDUFB3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing NDUFB3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NDUFB3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for NDUFB3 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for NDUFB3 gene:
Search GeneIP for patents involving NDUFB3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for NDUFB3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NDUFB3 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFB3 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFB3 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NDUFB3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDUFB3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDUFB3 |
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