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    NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 [ Homo sapiens (human) ]

    Gene ID: 4704, updated on 28-Oct-2024

    Summary

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    Official Symbol
    NDUFA9provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit A9provided by HGNC
    Primary source
    HGNC:HGNC:7693
    See related
    Ensembl:ENSG00000139180 MIM:603834; AllianceGenome:HGNC:7693
    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
    CC6; CI39k; COQ11; CI-39k; MC1DN26; NDUFS2L; SDR22E1
    Summary
    The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in heart (RPKM 54.9), colon (RPKM 38.4) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See NDUFA9 in Genome Data Viewer
    Location:
    12p13.32
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4649114..4694317)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4655954..4701144)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4758280..4803483)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 4 Neighboring gene coiled-coil domain containing 181 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5827 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:4737023-4738222 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:4739222-4740085 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4742144-4742644 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4742645-4743145 Neighboring gene RAB5A, member RAS oncogene family pseudogene Neighboring gene A-kinase anchoring protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5828 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4758050-4758705 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4828687-4829682 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:4829683-4830678 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4830679-4831674 Neighboring gene GALNT8 antisense upstream 1 Neighboring gene uncharacterized LOC124902863 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 8

    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 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. Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. van den Bosch BJ, et al. J Med Genet, 2012 Jan. PMID 22114105
    2. Calcium stimulates mitochondrial biogenesis in human granulosa cells. Yeh TS, et al. Ann N Y Acad Sci, 2005 May. PMID 15965058
    3. Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I. Stroud DA, et al. J Biol Chem, 2013 Jan 18. PMID 23223238, Free PMC Article
    4. GRIM-19 is essential for maintenance of mitochondrial membrane potential. Lu H, et al. Mol Biol Cell, 2008 May. PMID 18287540, Free PMC Article
    5. Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. Leshinsky-Silver E, et al. Biochem Biophys Res Commun, 2005 Aug 26. PMID 16023078

    See all (128) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
      Title: Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
    2. NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I.
      Title: Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I.
    3. A pathogenic mutation was found in the complex I subunit encoding the NDUFA9 gene, changing a highly conserved arginine at position 321 to proline
      Title: Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
    4. Study identifies mitochondrial transit peptide and determines mature protein cleavage site in cow ortholog.
      Title: NADH:ubiquinone oxidoreductase from bovine heart mitochondria. cDNA sequences of the import precursors of the nuclear-encoded 39 kDa and 42 kDa subunits.
    5. 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 26
    MedGen: C4748809 OMIM: 618247 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)

    Genotypes

    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

    • MGC111043

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables NADH dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables NADH dehydrogenase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in circadian rhythm IDA
    Inferred from Direct Assay
    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 sodium ion transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in ubiquinone biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus HDA PubMed 
    part_of respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial
    Names
    CI-39kD
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
    NADH dehydrogenase (ubiquinone) Fe-S protein 2-like (NADH-coenzyme Q reductase)
    NADH-ubiquinone oxidoreductase 39 kDa subunit
    complex I 39kDa subunit
    short chain dehydrogenase/reductase family 22E, member 1
    NP_004993.1

    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_032124.1 RefSeqGene

      Range
      5001..43457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005002.5 → NP_004993.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial precursor

      See identical proteins and their annotated locations for NP_004993.1

      Status: REVIEWED

      Source sequence(s)
      AC005832, BC009311, CB110957, L04490, R44283
      Consensus CDS
      CCDS8532.1
      UniProtKB/Swiss-Prot
      Q14076, Q16795, Q2NKX0
      UniProtKB/TrEMBL
      A8K4V2
      Related
      ENSP00000266544.5, ENST00000266544.10
      Conserved Domains (1) summary
      cd05271
      Location:54 → 326
      NDUFA9_like_SDR_a; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, subunit 9, 39 kDa, (NDUFA9) -like, atypical (a) SDRs

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      4649114..4694317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      4655954..4701144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16795.2 GenPept UniProtKB/Swiss-Prot:Q16795

    Gene LinkOut

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

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