The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect fo... See more...

Aliases for NDUFB9 Gene

Aliases for NDUFB9 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit B9 2 3 5
  • NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 9 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 9, 22kDa 2 3
  • NADH-Ubiquinone Oxidoreductase B22 Subunit 3 4
  • LYR Motif-Containing Protein 3 3 4
  • Complex I B22 Subunit 2 3
  • CI-B22 3 4
  • UQOR22 3 4
  • LYRM3 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 9 (22kD, B22) 2
  • Complex I-B22 4
  • MC1DN24 3
  • B22 3

External Ids for NDUFB9 Gene

Previous GeneCards Identifiers for NDUFB9 Gene

  • GC08P124713
  • GC08P125555
  • GC08P125220
  • GC08P125507
  • GC08P125620
  • GC08P120876
  • GC08P125551

Summaries for NDUFB9 Gene

Entrez Gene Summary for NDUFB9 Gene

  • The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

GeneCards Summary for NDUFB9 Gene

NDUFB9 (NADH:Ubiquinone Oxidoreductase Subunit B9) is a Protein Coding gene. Diseases associated with NDUFB9 include Mitochondrial Complex I Deficiency, Nuclear Type 24 and Mitochondrial Complex I Deficiency, Nuclear Type 1. 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 NDUFB9 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not 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 NDUFB9 Gene

Additional gene information for NDUFB9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFB9 Gene

Genomics for NDUFB9 Gene

GeneHancer (GH) Regulatory Elements for NDUFB9 Gene

Promoters and enhancers for NDUFB9 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 NDUFB9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFB9

Top Transcription factor binding sites by QIAGEN in the NDUFB9 gene promoter:
  • aMEF-2
  • AREB6
  • HOXA9
  • HOXA9B
  • MEF-2
  • Meis-1
  • Meis-1a
  • POU2F1
  • POU2F1a
  • TBP

Genomic Locations for NDUFB9 Gene

Genomic Locations for NDUFB9 Gene
chr8:124,539,101-124,580,648
(GRCh38/hg38)
Size:
41,548 bases
Orientation:
Plus strand
chr8:125,551,343-125,580,751
(GRCh37/hg19)
Size:
29,409 bases
Orientation:
Plus strand

Genomic View for NDUFB9 Gene

Genes around NDUFB9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFB9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFB9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFB9 Gene

Proteins for NDUFB9 Gene

  • Protein details for NDUFB9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6M9-NDUB9_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9
    Protein Accession:
    Q9Y6M9
    Secondary Accessions:
    • B2R8M6
    • Q9UQE8

    Protein attributes for NDUFB9 Gene

    Size:
    179 amino acids
    Molecular mass:
    21831 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFB9 Gene

neXtProt entry for NDUFB9 Gene

Post-translational modifications for NDUFB9 Gene

  • Ubiquitination at Lys15
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFB9 Gene

No data available for DME Specific Peptides for NDUFB9 Gene

Domains & Families for NDUFB9 Gene

Gene Families for NDUFB9 Gene

Protein Domains for NDUFB9 Gene

Blocks:
  • Complex 1 LYR protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFB9 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase B22 subunit (NDUB9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6M9

UniProtKB/Swiss-Prot:

NDUB9_HUMAN :
  • Belongs to the complex I LYR family.
Family:
  • Belongs to the complex I LYR family.
genes like me logo Genes that share domains with NDUFB9: view

Function for NDUFB9 Gene

Molecular function for NDUFB9 Gene

UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not 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),22kDa,component beta 9,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation,(OXPHOS),inner mitochondrial membrane,homologous to bovine subunit,B22

Phenotypes From GWAS Catalog for NDUFB9 Gene

Gene Ontology (GO) - Molecular Function for NDUFB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008137 NADH dehydrogenase (ubiquinone) activity TAS,NAS 9878551
genes like me logo Genes that share ontologies with NDUFB9: view
genes like me logo Genes that share phenotypes with NDUFB9: view

Human Phenotype Ontology for NDUFB9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFB9 Gene

MGI Knock Outs for NDUFB9:
  • Ndufb9 Ndufb9<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFB9

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for NDUFB9 Gene

Localization for NDUFB9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFB9 Gene

Mitochondrion inner membrane; Peripheral 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 NDUFB9 gene
Compartment Confidence
mitochondrion 5
extracellular 2
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS,IEA 9878551
GO:0016020 membrane IEA --
GO:0070469 respiratory chain IEA --
genes like me logo Genes that share ontologies with NDUFB9: view

Pathways & Interactions for NDUFB9 Gene

genes like me logo Genes that share pathways with NDUFB9: view

Gene Ontology (GO) - Biological Process for NDUFB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS,IEA --
GO:0007605 sensory perception of sound TAS 8661098
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFB9: view

No data available for SIGNOR curated interactions for NDUFB9 Gene

Drugs & Compounds for NDUFB9 Gene

(6) Drugs for NDUFB9 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 NDUFB9 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 NDUFB9: view

Transcripts for NDUFB9 Gene

mRNA/cDNA for NDUFB9 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 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 NDUFB9

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFB9 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b
SP1: -
SP2: - -
SP3: - -
SP4: -
SP5:
SP6: - -

Relevant External Links for NDUFB9 Gene

GeneLoc Exon Structure for
NDUFB9

Expression for NDUFB9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFB9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDUFB9 Gene

This gene is overexpressed in Muscle - Skeletal (x4.7).

Protein differential expression in normal tissues from HIPED for NDUFB9 Gene

This gene is overexpressed in Heart (9.4), Nasal epithelium (7.3), and Frontal cortex (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFB9 Gene



Protein tissue co-expression partners for NDUFB9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFB9

SOURCE GeneReport for Unigene cluster for NDUFB9 Gene:

Hs.15977

Evidence on tissue expression from TISSUES for NDUFB9 Gene

  • Nervous system(4.9)
  • Blood(4.5)
  • Liver(4.5)
  • Skin(3.9)
  • Muscle(3.3)
  • Pancreas(3.2)
  • Heart(2.8)
  • Kidney(2.6)
  • Lung(2.5)
  • Intestine(2.1)
  • Stomach(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFB9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFB9: view

No data available for mRNA Expression by UniProt/SwissProt for NDUFB9 Gene

Orthologs for NDUFB9 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFB9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFB9 31 30
  • 99.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFB9 31 30
  • 88.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFB9 31 30
  • 88.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufb9 17 31 30
  • 86.7 (n)
rat
(Rattus norvegicus)
Mammalia Ndufb9 30
  • 86.33 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFB9 31
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFB9 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFB9 31 30
  • 77.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFB9 31
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufb9 30
  • 76.25 (n)
Str.5819 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.4627 30
zebrafish
(Danio rerio)
Actinopterygii ndufb9 31 30
  • 74.14 (n)
OneToOne
wufb10b03 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10507 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009865 30
  • 56.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9306 31 30
  • 54.57 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C16A3.5 31 30
  • 46.28 (n)
OneToOne
Species where no ortholog for NDUFB9 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 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)

Evolution for NDUFB9 Gene

ENSEMBL:
Gene Tree for NDUFB9 (if available)
TreeFam:
Gene Tree for NDUFB9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFB9: view image

Paralogs for NDUFB9 Gene

(1) SIMAP similar genes for NDUFB9 Gene using alignment to 4 proteins:

  • NDUB9_HUMAN
  • E7EWZ0_HUMAN
  • E9PF49_HUMAN
  • E9PH64_HUMAN

Pseudogenes.org Pseudogenes for NDUFB9 Gene

genes like me logo Genes that share paralogs with NDUFB9: view

No data available for Paralogs for NDUFB9 Gene

Variants for NDUFB9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFB9 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
669512 Benign: not provided 124,549,457(+) T/G INTRON_VARIANT
669513 Benign: not provided 124,549,514(+) G/A INTRON_VARIANT
671560 Benign: not provided 124,543,041(+) C/T INTRON_VARIANT
671738 Benign: not provided 124,539,123(+) A/G FIVE_PRIME_UTR_VARIANT
676049 Likely Benign: not provided 124,539,054(+) C/T NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFB9 Gene

Variation tolerance for NDUFB9 Gene

Residual Variation Intolerance Score: 77.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFB9 Gene

Human Gene Mutation Database (HGMD)
NDUFB9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFB9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NDUFB9 Gene

Disorders for NDUFB9 Gene

MalaCards: The human disease database

(7) MalaCards diseases for NDUFB9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 24
  • mc1dn24
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
liver disease
  • disorder of liver
cystoisosporiasis
  • infection by isospora belli and isospora hominis
cardiomyopathy, infantile histiocytoid
  • cardiomyopathy, infantile xanthomatous
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUB9_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 24 (MC1DN24) [MIM:618245]: 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. MC1DN24 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:22200994}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFB9

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 NDUFB9: view

No data available for Genatlas for NDUFB9 Gene

Publications for NDUFB9 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. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. (PMID: 22200994) Haack TB … Prokisch H (Journal of medical genetics 2012) 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. 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
  5. 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

Products for NDUFB9 Gene

Sources for NDUFB9 Gene