The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor... See more...

Aliases for NDUFB5 Gene

Aliases for NDUFB5 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit B5 2 3 5
  • NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 5, Mitochondrial 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 5, 16kDa 2 3
  • NADH-Ubiquinone Oxidoreductase SGDH Subunit 3 4
  • Complex I SGDH Subunit 2 3
  • Complex I-SGDH 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 5 (16kD, SGDH) 2
  • CI-SGDH 4
  • CISGDH 3
  • SGDH 3

External Ids for NDUFB5 Gene

Previous GeneCards Identifiers for NDUFB5 Gene

  • GC03P176087
  • GC03P180165
  • GC03P180724
  • GC03P180643
  • GC03P180805
  • GC03P179322
  • GC03P176726

Summaries for NDUFB5 Gene

Entrez Gene Summary for NDUFB5 Gene

  • The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for NDUFB5 Gene

NDUFB5 (NADH:Ubiquinone Oxidoreductase Subunit B5) is a Protein Coding gene. Diseases associated with NDUFB5 include Pseudobulbar Palsy and Night Blindness, Congenital Stationary, Type 1A. 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.

UniProtKB/Swiss-Prot Summary for NDUFB5 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.

Additional gene information for NDUFB5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFB5 Gene

Genomics for NDUFB5 Gene

GeneHancer (GH) Regulatory Elements for NDUFB5 Gene

Promoters and enhancers for NDUFB5 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
GH03J179603 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 509.5 -0.1 -89 3.2 ZBTB40 ZNF217 EP300 TCF12 SIN3A POLR2G SP1 GTF2E2 PHF8 SIX5 NDUFB5 MRPL47 USP13 lnc-ACTL6A-2
GH03J179562 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 8.2 -41.2 -41189 3 ZBTB40 ZNF217 CTCF TCF12 SIN3A MYC NRF1 POLR2G SP1 PHF8 ACTL6A PIK3CA MFN1 NDUFB5 lnc-MRPL47-3
GH03J179612 Enhancer 1 Ensembl ENCODE 9.7 +9.9 9911 3.6 JUND REST CTBP1 JUN HDAC3 NR2F2 NCOR1 MBD2 NEUROD1 ZNF316 ENSG00000239096 USP13 ZMAT3 NDUFB5 MRPL47
GH03J179525 Enhancer 0.9 ENCODE CraniofacialAtlas 4.8 -77.8 -77764 2.3 ZIC2 HDAC2 NFIC GABPA CEBPG YY1 NANOG TCF12 NR2F2 ETS1 lnc-MRPL47-1 ENSG00000239255 GNB4 NDUFB5 piR-52324-049
GH03J179608 Enhancer 0.6 ENCODE 6.4 +4.4 4411 1.2 SPI1 BATF ELF1 ZFP91 TBX21 ZBTB33 NFATC1 SMARCB1 KDM1A ATF7 USP13 MRPL47 NDUFB5 ENSG00000239096
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFB5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFB5

Top Transcription factor binding sites by QIAGEN in the NDUFB5 gene promoter:
  • COMP1
  • Evi-1
  • HFH-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • MIF-1
  • Nkx2-2

Genomic Locations for NDUFB5 Gene

Genomic Locations for NDUFB5 Gene
chr3:179,604,690-179,627,647
(GRCh38/hg38)
Size:
22,958 bases
Orientation:
Plus strand
chr3:179,322,478-179,345,435
(GRCh37/hg19)
Size:
22,958 bases
Orientation:
Plus strand

Genomic View for NDUFB5 Gene

Genes around NDUFB5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFB5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFB5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFB5 Gene

Proteins for NDUFB5 Gene

  • Protein details for NDUFB5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43674-NDUB5_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial
    Protein Accession:
    O43674
    Secondary Accessions:
    • Q561V6

    Protein attributes for NDUFB5 Gene

    Size:
    189 amino acids
    Molecular mass:
    21750 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFB5 Gene

    Alternative splice isoforms for NDUFB5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFB5 Gene

Post-translational modifications for NDUFB5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NDUFB5 Gene

Domains & Families for NDUFB5 Gene

Gene Families for NDUFB5 Gene

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

Protein Domains for NDUFB5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFB5 Gene

GenScript: Design optimal peptide antigens:
  • NADH dehydrogenase (Ubiquinone) 1 beta subcomplex, 5, 16kDa, isoform CRA_e (D3DNS1_HUMAN)
  • NADH-ubiquinone oxidoreductase SGDH subunit (NDUB5_HUMAN)
  • NDUFB5 protein (Q05D62_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43674

UniProtKB/Swiss-Prot:

NDUB5_HUMAN :
  • Belongs to the complex I NDUFB5 subunit family.
Family:
  • Belongs to the complex I NDUFB5 subunit family.
genes like me logo Genes that share domains with NDUFB5: view

Function for NDUFB5 Gene

Molecular function for NDUFB5 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.

Gene Ontology (GO) - Molecular Function for NDUFB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS,TAS 9878551
genes like me logo Genes that share ontologies with NDUFB5: view
genes like me logo Genes that share phenotypes with NDUFB5: view

Animal Model Products

CRISPR Products

miRNA for NDUFB5 Gene

miRTarBase miRNAs that target NDUFB5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFB5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFB5 Gene

Localization for NDUFB5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFB5 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 NDUFB5 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFB5: view

Pathways & Interactions for NDUFB5 Gene

genes like me logo Genes that share pathways with NDUFB5: view

Gene Ontology (GO) - Biological Process for NDUFB5 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 NDUFB5: view

No data available for SIGNOR curated interactions for NDUFB5 Gene

Drugs & Compounds for NDUFB5 Gene

(6) Drugs for NDUFB5 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 NDUFB5 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 NDUFB5: view

Transcripts for NDUFB5 Gene

mRNA/cDNA for NDUFB5 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFB5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFB5 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g · 8h
SP1: - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - - -
SP8: - - -
SP9: - - - - - -
SP10:
SP11: - -

Relevant External Links for NDUFB5 Gene

GeneLoc Exon Structure for
NDUFB5

Expression for NDUFB5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFB5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFB5 Gene

This gene is overexpressed in Nasal epithelium (16.0), Heart (8.2), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFB5 Gene



Protein tissue co-expression partners for NDUFB5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFB5

SOURCE GeneReport for Unigene cluster for NDUFB5 Gene:

Hs.730674

Evidence on tissue expression from TISSUES for NDUFB5 Gene

  • Nervous system(4.9)
  • Heart(4.6)
  • Skin(4.5)
  • Liver(4.3)
  • Muscle(2.9)
  • Kidney(2.8)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with NDUFB5: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFB5 Gene

Orthologs for NDUFB5 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFB5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFB5 31 30
  • 99.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFB5 31 30
  • 85.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFB5 31 30
  • 85.36 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufb5 17 31 30
  • 78.84 (n)
rat
(Rattus norvegicus)
Mammalia Ndufb5 30
  • 78.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFB5 31
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFB5 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFB5 31 30
  • 67.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFB5 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufb5 30
  • 65.76 (n)
Str.1944 30
African clawed frog
(Xenopus laevis)
Amphibia ndufb5-prov 30
zebrafish
(Danio rerio)
Actinopterygii ndufb5 31 30
  • 59.24 (n)
OneToOne
-- 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8572 30
fruit fly
(Drosophila melanogaster)
Insecta l(3)neo18 31 30
  • 49.87 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007297 30
  • 47.73 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3719 31
  • 26 (a)
OneToOne
Species where no ortholog for NDUFB5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 NDUFB5 Gene

ENSEMBL:
Gene Tree for NDUFB5 (if available)
TreeFam:
Gene Tree for NDUFB5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFB5: view image

Paralogs for NDUFB5 Gene

Pseudogenes.org Pseudogenes for NDUFB5 Gene

genes like me logo Genes that share paralogs with NDUFB5: view

No data available for Paralogs for NDUFB5 Gene

Variants for NDUFB5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFB5 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs4147793 - p.Tyr133His

Additional dbSNP identifiers (rs#s) for NDUFB5 Gene

Variation tolerance for NDUFB5 Gene

Residual Variation Intolerance Score: 65.6% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFB5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFB5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NDUFB5 Gene

Disorders for NDUFB5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFB5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pseudobulbar palsy
  • pseudobulbar paralysis
night blindness, congenital stationary, type 1a
  • night blindness, congenital stationary, type 2a
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFB5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NDUFB5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFB5 Gene

Publications for NDUFB5 Gene

  1. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. (PMID: 9425316) Ton C … Liew CC (Biochemical and biophysical research communications 1997) 2 3 4 54
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 41 54
  5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 41 54

Products for NDUFB5 Gene

Sources for NDUFB5 Gene