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    NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 [ Homo sapiens (human) ]

    Gene ID: 4715, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NDUFB9provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit B9provided by HGNC
    Primary source
    HGNC:HGNC:7704
    See related
    Ensembl:ENSG00000147684 MIM:601445; AllianceGenome:HGNC:7704
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    B22; LYRM3; CI-B22; UQOR22; MC1DN24
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 119.4), kidney (RPKM 111.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFB9 in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (124539123..124549979)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (125672139..125682993)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (125551364..125562220)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:125487031-125487576 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:125487577-125488120 Neighboring gene ring finger protein 139 Neighboring gene TatD DNase domain containing 1 Neighboring gene microRNA 6844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19514 Neighboring gene uncharacterized LOC105375740 Neighboring gene MTSS I-BAR domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27888 Neighboring gene uncharacterized LOC124902016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27889

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome. Gu JZ, et al. Genomics, 1996 Jul 1. PMID 8661098
    2. Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13. Lin X, et al. Hum Hered, 1999 Mar. PMID 10077726
    3. Down-Regulation of NDUFB9 Promotes Breast Cancer Cell Proliferation, Metastasis by Mediating Mitochondrial Metabolism. Li LD, et al. PLoS One, 2015. PMID 26641458, Free PMC Article
    4. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. Haack TB, et al. J Med Genet, 2012 Feb. PMID 22200994
    5. cDNA cloning by amplification of circularized first strand cDNAs reveals non-IRE-regulated iron-responsive mRNAs. Ye Z, et al. Biochem Biophys Res Commun, 2000 Aug 18. PMID 10944468

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Down-Regulation of NDUFB9 Promotes Breast Cancer Cell Proliferation, Metastasis by Mediating Mitochondrial Metabolism.
      Title: Down-Regulation of NDUFB9 Promotes Breast Cancer Cell Proliferation, Metastasis by Mediating Mitochondrial Metabolism.
    2. Mutant NDUFB9 is a new cause of complex I deficiency.
      Title: Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
    3. This protein has been found differentially expressed in thalami from patients with schizophrenia.
      Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial complex 1 deficiency, nuclear type 24
    MedGen: C4748803 OMIM: 618245 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22885, DKFZp566O173

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory perception of sound TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    part_of respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9
    Names
    LYR motif-containing protein 3
    NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
    NADH-ubiquinone oxidoreductase B22 subunit
    complex I B22 subunit

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042266.1 RefSeqGene

      Range
      5022..15878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278645.2 → NP_001265574.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant:This variant (2) differs in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC090198, BG991068, CN410734
      UniProtKB/TrEMBL
      Q9UQS5

    2. NM_001278646.2 → NP_001265575.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 3

      See identical proteins and their annotated locations for NP_001265575.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 3, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC090198, BG703246, BG991068
      Conserved Domains (1) summary
      pfam05347
      Location:2 → 29
      Complex1_LYR; Complex 1 protein (LYR family)

    3. NM_001311168.2 → NP_001298097.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 4, which is shorter than isoform 1.
      Source sequence(s)
      AF044956, AI907018, BQ685604, DB504123
      Consensus CDS
      CCDS83324.1
      UniProtKB/TrEMBL
      A0A7I2V620, E9PH64
      Related
      ENSP00000430322.1, ENST00000517367.1
      Conserved Domains (1) summary
      pfam05347
      Location:14 → 61
      Complex1_LYR; Complex 1 protein (LYR family)

    4. NM_005005.3 → NP_004996.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 1

      See identical proteins and their annotated locations for NP_004996.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF261090, AI907018
      Consensus CDS
      CCDS6352.1
      UniProtKB/Swiss-Prot
      B2R8M6, Q9UQE8, Q9Y6M9
      UniProtKB/TrEMBL
      A0A7I2V620
      Related
      ENSP00000276689.3, ENST00000276689.8
      Conserved Domains (1) summary
      pfam05347
      Location:14 → 72
      Complex1_LYR; Complex 1 protein (LYR family)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      124539123..124549979
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791784.1 Reference GRCh38.p14 PATCHES

      Range
      74073..84929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      125672139..125682993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6M9.3 GenPept UniProtKB/Swiss-Prot:Q9Y6M9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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