Aliases for NDUFB8 Gene

Aliases for NDUFB8 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit B8 2 3 5
  • NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 8, Mitochondrial 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 8, 19kDa 2 3
  • Complex I ASHI Subunit 2 3
  • Complex I-ASHI 3 4
  • CI-ASHI 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 8 (19kD, ASHI) 2
  • NADH:Ubiquinone Oxidoreductase ASHI Subunit 3
  • NADH-Ubiquinone Oxidoreductase ASHI Subunit 4
  • MC1DN32 3
  • ASHI 3

External Ids for NDUFB8 Gene

Previous GeneCards Identifiers for NDUFB8 Gene

  • GC10M101140
  • GC10M101517
  • GC10M102414
  • GC10M101948
  • GC10M102273
  • GC10M095912

Summaries for NDUFB8 Gene

GeneCards Summary for NDUFB8 Gene

NDUFB8 (NADH:Ubiquinone Oxidoreductase Subunit B8) is a Protein Coding gene. Diseases associated with NDUFB8 include Mitochondrial Complex I Deficiency, Nuclear Type 32 and Leigh Syndrome With Cardiomyopathy. 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. An important paralog of this gene is ENSG00000255339.

UniProtKB/Swiss-Prot Summary for NDUFB8 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 NDUFB8 Gene

Additional gene information for NDUFB8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFB8 Gene

Genomics for NDUFB8 Gene

GeneHancer (GH) Regulatory Elements for NDUFB8 Gene

Promoters and enhancers for NDUFB8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFB8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFB8

Top Transcription factor binding sites by QIAGEN in the NDUFB8 gene promoter:
  • AML1a
  • AP-1
  • CUTL1
  • E47
  • IRF-7A
  • MIF-1
  • RP58
  • Tal-1beta

Genomic Locations for NDUFB8 Gene

Genomic Locations for NDUFB8 Gene
chr10:100,523,729-100,530,000
(GRCh38/hg38)
Size:
6,272 bases
Orientation:
Minus strand
chr10:102,267,203-102,289,757
(GRCh37/hg19)
Size:
22,555 bases
Orientation:
Minus strand

Genomic View for NDUFB8 Gene

Genes around NDUFB8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFB8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFB8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFB8 Gene

Proteins for NDUFB8 Gene

  • Protein details for NDUFB8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95169-NDUB8_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial
    Protein Accession:
    O95169
    Secondary Accessions:
    • A8K0L4
    • Q5W143
    • Q5W144
    • Q5W145
    • Q9UG53
    • Q9UJR4
    • Q9UQF3

    Protein attributes for NDUFB8 Gene

    Size:
    186 amino acids
    Molecular mass:
    21766 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFB8 Gene

    Alternative splice isoforms for NDUFB8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFB8 Gene

Post-translational modifications for NDUFB8 Gene

  • Ubiquitination at Lys34
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFB8 Gene

No data available for DME Specific Peptides for NDUFB8 Gene

Domains & Families for NDUFB8 Gene

Gene Families for NDUFB8 Gene

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

Protein Domains for NDUFB8 Gene

Blocks:
  • NADH-ubiquinone oxidoreductase ASHI subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFB8 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase ASHI subunit (NDUB8_HUMAN)
  • cDNA FLJ52503, highly similar to NADH dehydrogenase (ubiquinone) 1 beta subcomplex subunit 8, mitochondrial (EC 1.6.5.3) (EC 1.6.99.3) (NADH-ubiquinone oxidoreductase ASHI subunit) (Complex I-ASHI) (CI-ASHI) (Q5W143_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95169

UniProtKB/Swiss-Prot:

NDUB8_HUMAN :
  • Belongs to the complex I NDUFB8 subunit family.
Family:
  • Belongs to the complex I NDUFB8 subunit family.
genes like me logo Genes that share domains with NDUFB8: view

Function for NDUFB8 Gene

Molecular function for NDUFB8 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),21.8kDa,component beta 8,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

Phenotypes From GWAS Catalog for NDUFB8 Gene

Gene Ontology (GO) - Molecular Function for NDUFB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS,IEA 9878551
genes like me logo Genes that share ontologies with NDUFB8: view
genes like me logo Genes that share phenotypes with NDUFB8: view

Human Phenotype Ontology for NDUFB8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFB8 Gene

MGI Knock Outs for NDUFB8:
  • Ndufb8 Ndufb8<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for NDUFB8 Gene

miRTarBase miRNAs that target NDUFB8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NDUFB8 Gene

Localization for NDUFB8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFB8 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 NDUFB8 gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 4
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
plasma membrane 1
peroxisome 1
lysosome 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS,IMP 9878551
GO:0005759 mitochondrial matrix TAS --
GO:0005783 endoplasmic reticulum IDA --
genes like me logo Genes that share ontologies with NDUFB8: view

Pathways & Interactions for NDUFB8 Gene

genes like me logo Genes that share pathways with NDUFB8: view

Gene Ontology (GO) - Biological Process for NDUFB8 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 NDUFB8: view

No data available for SIGNOR curated interactions for NDUFB8 Gene

Drugs & Compounds for NDUFB8 Gene

(1) Drugs for NDUFB8 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
genes like me logo Genes that share compounds with NDUFB8: view

Transcripts for NDUFB8 Gene

mRNA/cDNA for NDUFB8 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
9 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 NDUFB8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - - - - - -
SP9: - - -
SP10: - -
SP11: - - - -
SP12: -
SP13: -

Relevant External Links for NDUFB8 Gene

GeneLoc Exon Structure for
NDUFB8

Expression for NDUFB8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFB8 Gene

Protein differential expression in normal tissues from HIPED for NDUFB8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.2) and Bone (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFB8 Gene



Protein tissue co-expression partners for NDUFB8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFB8

SOURCE GeneReport for Unigene cluster for NDUFB8 Gene:

Hs.523215

Evidence on tissue expression from TISSUES for NDUFB8 Gene

  • Nervous system(4.9)
  • Lung(4.8)
  • Blood(4.4)
  • Intestine(3.4)
  • Pancreas(3.4)
  • Muscle(3.3)
  • Skin(3.1)
  • Heart(2.9)
  • Kidney(2.8)
  • Liver(2.7)
  • Eye(2.4)
  • Gall bladder(2.4)
  • Stomach(2.4)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with NDUFB8: 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 NDUFB8 Gene

Orthologs for NDUFB8 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFB8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFB8 31 30
  • 99.64 (n)
OneToMany
cow
(Bos Taurus)
Mammalia NDUFB8 30
  • 87.63 (n)
-- 31
  • 53 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NDUFB8 30
  • 87.1 (n)
-- 31
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ndufb8 30
  • 86.92 (n)
mouse
(Mus musculus)
Mammalia Ndufb8 17 31 30
  • 84.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 80 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves NDUFB8 31 30
  • 68.12 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufb8 30
  • 66.67 (n)
Str.15125 30
zebrafish
(Danio rerio)
Actinopterygii ndufb8 31 30
  • 64.7 (n)
OneToMany
zgc77718 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9112 30
fruit fly
(Drosophila melanogaster)
Insecta CG3192 31 30
  • 47.92 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002020 30
  • 46.67 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4923 31
  • 29 (a)
OneToMany
Species where no ortholog for NDUFB8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 NDUFB8 Gene

ENSEMBL:
Gene Tree for NDUFB8 (if available)
TreeFam:
Gene Tree for NDUFB8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFB8: view image

Paralogs for NDUFB8 Gene

Paralogs for NDUFB8 Gene

Pseudogenes.org Pseudogenes for NDUFB8 Gene

genes like me logo Genes that share paralogs with NDUFB8: view

Variants for NDUFB8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFB8 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs1239013578 Pathogenic: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32. Mitochondrial complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252] 100,527,060(-) G/Tp.Pro76Gln MISSENSE_VARIANT
rs1264186261 Pathogenic: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 100,529,402(-) GT/G FRAMESHIFT_VARIANT
rs1554843251 Pathogenic: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32. Mitochondrial complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252] 100,526,435(-) G/Cp.Cys144Trp MISSENSE_VARIANT
rs1554843434 Pathogenic: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32. Mitochondrial complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252] 100,529,408(-) A/Gp.Tyr62His MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFB8 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFB8 Gene

Variant ID Type Subtype PubMed ID
esv2759779 CNV gain+loss 17122850
esv3624363 CNV loss 21293372
nsv7519 CNV insertion 18451855
nsv831962 CNV gain 17160897
nsv831963 CNV loss 17160897

Variation tolerance for NDUFB8 Gene

Residual Variation Intolerance Score: 66.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFB8 Gene

Human Gene Mutation Database (HGMD)
NDUFB8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFB8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFB8 Gene

Disorders for NDUFB8 Gene

MalaCards: The human disease database

(15) MalaCards diseases for NDUFB8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 32
  • mc1dn32
leigh syndrome with cardiomyopathy
  • cardiomyopathy with hypotonia due to cytochrome c oxidase deficiency
periarthritis
epicondylitis
  • andrel epicondylitis
myofascial pain syndrome
  • fibromyalgia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUB8_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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. MC1DN32 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:29429571}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFB8

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 NDUFB8: view

No data available for Genatlas for NDUFB8 Gene

Publications for NDUFB8 Gene

  1. NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. (PMID: 29429571) Piekutowska-Abramczuk D … Mayr JA (American journal of human genetics 2018) 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. 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
  4. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PMID: 18977241) Starr JM … Deary IJ (Mechanisms of ageing and development 2008) 3 41 54
  5. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PMID: 17601350) Harris SE … Deary IJ (BMC genetics 2007) 3 41 54

Products for NDUFB8 Gene

Sources for NDUFB8 Gene