Aliases for NDUFB1 Gene

Aliases for NDUFB1 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit B1 2 3 5
  • NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 1 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 1, 7kDa 2 3
  • NADH-Ubiquinone Oxidoreductase MNLL Subunit 3 4
  • Complex I MNLL Subunit 2 3
  • Complex I-MNLL 3 4
  • CI-MNLL 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 1 (7kD, MNLL) 2
  • CI-SGDH 3
  • MNLL 3

External Ids for NDUFB1 Gene

Previous GeneCards Identifiers for NDUFB1 Gene

  • GC14M090088
  • GC14M086398
  • GC14M090572
  • GC14M091652
  • GC14M092582
  • GC14M072763

Summaries for NDUFB1 Gene

GeneCards Summary for NDUFB1 Gene

NDUFB1 (NADH:Ubiquinone Oxidoreductase Subunit B1) is a Protein Coding gene. Diseases associated with NDUFB1 include Bacterial Gastritis and Visual Epilepsy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and NADH dehydrogenase activity.

UniProtKB/Swiss-Prot Summary for NDUFB1 Gene

  • 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

Additional gene information for NDUFB1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFB1 Gene

Genomics for NDUFB1 Gene

GeneHancer (GH) Regulatory Elements for NDUFB1 Gene

Promoters and enhancers for NDUFB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J092120 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 525.9 +0.0 16 3.4 FOXK2 ZNF217 TCF12 SIN3A USF1 POLR2G SP1 NCOR1 BCLAF1 GTF2E2 CPSF2 NDUFB1 lnc-ATXN3-3-001 lnc-ATXN3-3-002 ATXN3
GH14J092105 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.5 +16.0 15964 2.7 HNRNPK CTCF POLR2G USF1 SP1 PHF8 FOS ZIC2 ZBTB10 POLR2A ATXN3 lnc-NDUFB1-1 NDUFB1 RIN3 SLC24A4 CATSPERB piR-35674-152
GH14J092116 Promoter/Enhancer 0.6 EPDnew Ensembl 25.9 +5.4 5416 1 SPI1 ATXN3 RF00017-1655 CPSF2 NDUFB1 TRIP11 lnc-ATXN3-2 lnc-NDUFB1-1
GH14J092160 Enhancer 0.6 Ensembl ENCODE 25.5 -38.9 -38917 1.3 FOS CEBPB RXRA NDUFB1 CPSF2 ATXN3 lnc-SLC24A4-1 NONHSAG015743.2
GH14J091944 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.9 +175.3 175316 4 CTCF ZBTB26 RFX1 SP2 ZBTB17 POLR2A CEBPB ZFHX2 E2F1 ZNF335 FBLN5 lnc-TRIP11-2 NDUFB1 piR-38351-160
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFB1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFB1

Top Transcription factor binding sites by QIAGEN in the NDUFB1 gene promoter:
  • POU2F2B
  • TBP
  • TFIID

Genomic Locations for NDUFB1 Gene

Genomic Locations for NDUFB1 Gene
chr14:92,116,122-92,121,917
(GRCh38/hg38)
Size:
5,796 bases
Orientation:
Minus strand
chr14:92,582,466-92,588,261
(GRCh37/hg19)
Size:
5,796 bases
Orientation:
Minus strand

Genomic View for NDUFB1 Gene

Genes around NDUFB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFB1 Gene

Proteins for NDUFB1 Gene

  • Protein details for NDUFB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75438-NDUB1_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1
    Protein Accession:
    O75438
    Secondary Accessions:
    • A0AV68

    Protein attributes for NDUFB1 Gene

    Size:
    58 amino acids
    Molecular mass:
    6961 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.
    SequenceCaution:
    • Sequence=AAD42054.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NDUFB1 Gene

    Alternative splice isoforms for NDUFB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFB1 Gene

Post-translational modifications for NDUFB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFB1 Gene

No data available for DME Specific Peptides for NDUFB1 Gene

Domains & Families for NDUFB1 Gene

Gene Families for NDUFB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NDUFB1 Gene

Blocks:
  • MNLL subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFB1 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase MNLL subunit (NDUB1_HUMAN)
  • NDUFB1 protein (Q3MHU6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75438

UniProtKB/Swiss-Prot:

NDUB1_HUMAN :
  • Belongs to the complex I NDUFB1 subunit family.
Family:
  • Belongs to the complex I NDUFB1 subunit family.
genes like me logo Genes that share domains with NDUFB1: view

Function for NDUFB1 Gene

Molecular function for NDUFB1 Gene

UniProtKB/Swiss-Prot 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:
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

Phenotypes From GWAS Catalog for NDUFB1 Gene

Gene Ontology (GO) - Molecular Function for NDUFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity TAS,NAS 9878551
genes like me logo Genes that share ontologies with NDUFB1: view
genes like me logo Genes that share phenotypes with NDUFB1: view

Animal Model Products

CRISPR Products

miRNA for NDUFB1 Gene

miRTarBase miRNAs that target NDUFB1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFB1 Gene

Localization for NDUFB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFB1 Gene

Mitochondrion inner membrane; Single-pass membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFB1 gene
Compartment Confidence
mitochondrion 5
nucleus 4
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
cytosol 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nuclear speckles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NDUFB1: view

Pathways & Interactions for NDUFB1 Gene

genes like me logo Genes that share pathways with NDUFB1: view

Gene Ontology (GO) - Biological Process for NDUFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFB1: view

No data available for SIGNOR curated interactions for NDUFB1 Gene

Drugs & Compounds for NDUFB1 Gene

(6) Drugs for NDUFB1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Iron Approved, Experimental Pharma 1496
NAD Experimental Pharma Full agonist, Agonist, Activator 0
Ubiquinone-1 Experimental Pharma 0

(2) Additional Compounds for NDUFB1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
genes like me logo Genes that share compounds with NDUFB1: view

Transcripts for NDUFB1 Gene

mRNA/cDNA for NDUFB1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFB1 Gene

No ASD Table

Relevant External Links for NDUFB1 Gene

GeneLoc Exon Structure for
NDUFB1

Expression for NDUFB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFB1 Gene

Protein differential expression in normal tissues from HIPED for NDUFB1 Gene

This gene is overexpressed in Heart (13.4) and Peripheral blood mononuclear cells (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFB1 Gene



Protein tissue co-expression partners for NDUFB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFB1

SOURCE GeneReport for Unigene cluster for NDUFB1 Gene:

Hs.183435

Evidence on tissue expression from TISSUES for NDUFB1 Gene

  • Nervous system(4.4)
  • Blood(4.3)
  • Pancreas(4.3)
  • Heart(2.4)
  • Muscle(2.4)
  • Kidney(2.2)
  • Liver(2.2)
  • Adrenal gland(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with NDUFB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFB1 Gene

Orthologs for NDUFB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFB1 31 30
  • 99.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFB1 31 30
  • 89.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia LOC102631912 30
  • 83.04 (n)
Ndufb1-ps 17
dog
(Canis familiaris)
Mammalia LOC102156783 30
  • 80.18 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFB1 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFB1 31
  • 20 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFB1 31 30
  • 70.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFB1 31
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6643 30
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3020 30
zebrafish
(Danio rerio)
Actinopterygii NDUFB1 31
  • 64 (a)
OneToOne
Species where no ortholog for NDUFB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFB1 Gene

ENSEMBL:
Gene Tree for NDUFB1 (if available)
TreeFam:
Gene Tree for NDUFB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFB1: view image

Paralogs for NDUFB1 Gene

Pseudogenes.org Pseudogenes for NDUFB1 Gene

genes like me logo Genes that share paralogs with NDUFB1: view

No data available for Paralogs for NDUFB1 Gene

Variants for NDUFB1 Gene

Additional dbSNP identifiers (rs#s) for NDUFB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFB1 Gene

Variant ID Type Subtype PubMed ID
nsv819246 CNV loss 19587683

Variation tolerance for NDUFB1 Gene

Residual Variation Intolerance Score: 56.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFB1 Gene

Human Gene Mutation Database (HGMD)
NDUFB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFB1 Gene

Disorders for NDUFB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFB1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bacterial gastritis
visual epilepsy
  • epilepsy, visual
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFB1

genes like me logo Genes that share disorders with NDUFB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFB1 Gene

Publications for NDUFB1 Gene

  1. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PMID: 12611891) Murray J … Capaldi RA (The Journal of biological chemistry 2003) 3 4 54
  5. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PMID: 9653160) Mao M … Chen Z (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 54

Products for NDUFB1 Gene

Sources for NDUFB1 Gene