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

Gene ID: 4704, updated on 11-Apr-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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Location:
12p13.32
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4649114..4694317)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4655954..4701144)
105.20220307 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
  • 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. 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
  2. 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
  3. Calcium stimulates mitochondrial biogenesis in human granulosa cells. Yeh TS, et al. Ann N Y Acad Sci, 2005 May. PMID 15965058
  4. Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome. Nesti C, et al. J Neurol, 2023 Jun. PMID 36939934
  5. GRIM-19 is essential for maintenance of mitochondrial membrane potential. Lu H, et al. Mol Biol Cell, 2008 May. PMID 18287540, Free PMC Article

See all (115) 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
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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 sodium ion transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in ubiquinone-6 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 
part_of mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial respiratory chain complex I IPI
Inferred from Physical Interaction
more info
 PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus HDA 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_2023_10

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

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