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

    Gene ID: 4704, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    General protein information

    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)

    NEW Try the new Transcript table

    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_005002.5NP_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:54326
      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)