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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NDUFB1 Gene

protein-coding   GIFtS: 55
GCID: GC14M092582

NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 1, 7kDa

(Previous names: NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD,...)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 1, 7kDa1 2     NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 1 (7kD, MNLL)1
Complex I MNLL Subunit1 2     CI-SGDH2
Complex I-MNLL2 3     MNLL2
CI-MNLL2 3     NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 12
NADH-Ubiquinone Oxidoreductase MNLL Subunit2 3     

External Ids:    HGNC: 76951   Entrez Gene: 47072   Ensembl: ENSG000001836487   OMIM: 6038375   UniProtKB: O754383   

Export aliases for NDUFB1 gene to outside databases

Previous GC identifers: GC14M090088 GC14M086398 GC14M090572 GC14M091652 GC14M072763


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for NDUFB1 Gene: 
NDUFB1 (NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa) is a protein-coding gene. Diseases associated with NDUFB1 include huntington's disease, and parkinson's disease, and among its related super-pathways are Electron Transport Chain and Metabolic pathways. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot: NDUB1_HUMAN, O75438
Function: 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

Gene Wiki entry for NDUFB1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDUFB1 gene promoter:
         TBP   TFIID   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.12   Ensembl cytogenetic band:  14q32.12   HGNC cytogenetic band: 14q31.3

NDUFB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFB1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M092582:  view genomic region     (about GC identifiers)

Start:
92,582,466 bp from pter      End:
92,588,261 bp from pter
Size:
5,796 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NDUB1_HUMAN, O75438 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1  
Size: 58 amino acids; 6961 Da
Subunit: Complex I is composed of 45 different subunits
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein; Matrix side
Sequence caution: Sequence=AAD42054.1; Type=Erroneous initiation;
Secondary accessions: A0AV68
Alternative splicing: 2 isoforms:  O75438-1   O75438-2   

Explore the universe of human proteins at neXtProt for NDUFB1: NX_O75438

Explore proteomics data for NDUFB1 at MOPED 

NDUFB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

NDUFB1 Protein Expression

REFSEQ proteins: NP_004536.2  
ENSEMBL proteins: 
 ENSP00000451090   ENSP00000330787   ENSP00000475170   ENSP00000450776  
Reactome Protein details: O75438
Human Recombinant Protein Products for NDUFB1: 
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Browse Proteins at Cloud-Clone Corp. 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion ----
GO:0005743mitochondrial inner membrane TAS--
GO:0005747mitochondrial respiratory chain complex I NAS9878551
GO:0016021integral to membrane IEA--

NDUFB1 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
comI: Mitochondrial respiratory chain complex / Complex I

1 InterPro protein domain:
 IPR012575 NADH_UbQ_OxRdtase_MNLL_su

Graphical View of Domain Structure for InterPro Entry O75438

ProtoNet protein and cluster: O75438

1 Blocks protein domain: IPB012575 MNLL subunit

UniProtKB/Swiss-Prot: NDUB1_HUMAN, O75438
Similarity: Belongs to the complex I NDUFB1 subunit family


NDUFB1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: NDUB1_HUMAN, O75438
Function: 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

     Genatlas biochemistry entry for NDUFB1:
NADH ubiquinone oxidoreductase (Q reductase),7kDa,component beta 1,hydrophobic fraction of the complex I
multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003954NADH dehydrogenase activity ----
GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
     
NDUFB1 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for NDUFB1:
 Increased cell number in G2M,   Increased gamma-H2AX phosphory 

Animal Models:
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for NDUFB1 About                                                                                                See pathways by source

SuperPathSelected contained pathways About (see all per SuperPath)
1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
Parkinson's disease0.61
Respiratory electron transport0.81
Oxidative phosphorylation0.51
Electron Transport Chain0.75
Huntington's disease0.47
The citric acid (TCA) cycle and respiratory electron transport0.72
Alzheimer's disease0.46
2Metabolism
Metabolism0.40
Metabolic pathways0.40

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 BioSystems Pathways for NDUFB1
    Electron Transport Chain
Oxidative phosphorylation

4        Reactome Pathways for NDUFB1
    Respiratory electron transport
Metabolism
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
The citric acid (TCA) cycle and respiratory electron transport


5/6         Kegg Pathways  (Kegg details for NDUFB1) (see all 6):
    Oxidative phosphorylation
Metabolic pathways
Non-alcoholic fatty liver disease (NAFLD)
Alzheimer's disease
Parkinson's disease


NDUFB1 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFB1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/62 Interacting proteins for NDUFB1 (O754382, 3 ENSP000003307874) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
InteractantInteraction Details
GeneCardExternal ID(s)
NDUFA5Q167183, ENSP000003479884I2D: score=4 STRING: ENSP00000347988
EWSR1Q018443, ENSP000003810314I2D: score=3 STRING: ENSP00000381031
U2AF2P263683I2D: score=1 
NDUFC1ENSP000003777704STRING: ENSP00000377770 STRING: ENSP00000265500
ENSG00000267059ENSP000002629464STRING: ENSP00000262946
About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9878551
GO:0022904respiratory electron transport chain TAS--
GO:0044237cellular metabolic process TAS--
GO:0044281small molecule metabolic process TAS--

NDUFB1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NDUFB1 (NDUB1)

8 HMDB Compounds for NDUFB1    About this table
CompoundSynonyms CAS #PubMed Ids
FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
IronArmco iron (see all 19)7439-89-6--
NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
QH2CoQH2 (see all 5)56275-39-9--
SulfideSulfide (see all 4)18496-25-8--
Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

1 DrugBank Compound for NDUFB1    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

Search CenterWatch for drugs/clinical trials and news about NDUFB1 / NDUB1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NDUFB1 gene: 
NM_004545.3  

Unigene Cluster for NDUFB1:

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa
Hs.183435  [show with all ESTs]
Unigene Representative Sequence: AK055348
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000553514(uc001yag.1) ENST00000329559(uc001yaf.3) ENST00000605997
ENST00000553666 ENST00000555441 ENST00000556555

miRNA
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDUFB1

Additional mRNA sequence: 

AF050638.1 AK055348.1 AK316557.2 BC009691.1 BC104672.1 BC126232.1 BC126234.1 

9 DOTS entries:

DT.453834  DT.86858664  DT.120776662  DT.97773970  DT.99982845  DT.100741831  DT.91717438  DT.120776631 
DT.40188944 

24/118 AceView cDNA sequences (see all 118):

AI123327 BF084212 AA887927 AI247288 BM052981 AI659639 AI674188 BI712526 
AA595029 AA257014 CB106791 NM_004545 BQ889160 BC009691 AA514390 CD000582 
AF050638 BG220099 AL699842 CK903925 BG337256 AA541407 BG149304 BQ272107 

GeneLoc Exon Structure


(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

NDUFB1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAGAATCTGA
NDUFB1 Expression
About this image


See NDUFB1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NDUFB1

SOURCE GeneReport for Unigene cluster: Hs.183435
    SABiosciences Custom PCR Arrays for NDUFB1
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In Situ
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(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 chordates.

Orthologs for NDUFB1 gene from 5/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia LOC1006829341 uncharacterized LOC100682934 79.49(n)
67.31(a)
  100682934  XM_003435023.1  XP_003435071.1 
chicken
(Gallus gallus)
Aves NDUFB16
NADH dehydrogenase
75(a)
1 ↔ 1
5(43845120-43847133)
lizard
(Anolis carolinensis)
Reptilia NDUFB16
Uncharacterized protein
64(a)
1 ↔ 1
1(11644897-11645022)
African clawed frog
(Xenopus laevis)
Amphibia Xl.66432 Xenopus laevis transcribed sequence with moderate similarity more 75.92(n)    AW636101.1 
zebrafish
(Danio rerio)
Actinopterygii BI842206.12   -- 71.58(n)    BI842206.1 


ENSEMBL Gene Tree for NDUFB1 (if available)
TreeFam Gene Tree for NDUFB1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for NDUFB1 gene

NDUFB1 for paralogs           About GeneDecksing


2 Pseudogenes.org Pseudogenes for NDUFB1
PGOHUM00000245216 PGOHUM00000238028


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

10/107 SNPs in NDUFB1 are shown (see all 107)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 14 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1166657361,2
C,F--92582008(+) AAATCT/CTGGCA 1 -- int11Minor allele frequency- C:0.03WA 118
rs773952051,2
C,F--92582031(+) AGTCCC/TGTTGA 1 -- int11Minor allele frequency- T:0.03EA 120
rs1473715111,2
--92582159(+) ACCACA/GGTATA 1 -- int10--------
rs24021121,2
C,F,H--92582172(+) ATCAGG/ATACCT 1 -- int115Minor allele frequency- A:0.27NS EA NA WA CSA 925
rs1888975701,2
C--92582228(+) ACTCTA/GTTGCC 1 -- int10--------
rs28961971,2
C,F,A,H--92582251(+) TATGCG/ACCACC 1 -- int111Minor allele frequency- A:0.39NA WA CSA EA 373
rs28961981,2
C,A,H--92582291(+) AGAGAT/CGGGGT 1 -- int15Minor allele frequency- C:0.11NA WA CSA 9
rs133501,2
C,F,H--92582472(-) AGAATT/CTGAAA 1 -- ut3122Minor allele frequency- C:0.06NS EA WA NA CSA 2349
rs1999193111,2
C--92582581(+) GTGTGA/GAAAGC 1 -- int10--------
rs111600441,2
C,F,A,H--92582655(+) AAGAAT/AGATTG 1 -- int112Minor allele frequency- A:0.34NS EA NA WA 784

HapMap Linkage Disequilibrium report for NDUFB1 (92582466 - 92588261 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for NDUFB1:    About this table     
Variant IDTypeSubtypePubMed ID
dgv1975n71CNV Loss21882294
nsv902190CNV Loss21882294
nsv819246CNV Loss19587683


Human Gene Mutation Database (HGMD): NDUFB1
SABiosciences Cancer Mutation PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 603837    OMIM disorders: --

3 diseases for NDUFB1:    About MalaCards
huntington's disease    parkinson's disease    alzheimer's disease


NDUFB1 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:  
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Export disorders for NDUFB1 gene to outside databases

(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 NDUFB1 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with NDUFB1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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)
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  3. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full- length cDNA cloning. (PubMed id 9653160)1, 2 Mao M.... Chen Z. (1998)
  4. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. (PubMed id 9763677)1, 3 Emahazion T....Brookes A.J. (1998)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4707 HGNC: 7695 AceView: NDUFB1 Ensembl:ENSG00000183648 euGenes: HUgn4707
ECgene: NDUFB1 Kegg: 4707 H-InvDB: NDUFB1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for NDUFB1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for NDUFB1 gene:
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