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Aliases for NDUFA9 Gene

Aliases for NDUFA9 Gene

  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 9, 39kDa 2 3
  • NADH-Ubiquinone Oxidoreductase 39 KDa Subunit 3 4
  • Complex I 39kDa Subunit 2 3
  • NDUFS2L 3 4
  • CI-39kD 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 2-Like (NADH-Coenzyme Q Reductase) 3
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 9, Mitochondrial 3
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 9 (39kD) 2
  • Short Chain Dehydrogenase/Reductase Family 22E, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 22E 2
  • Complex I-39kD 4
  • Member 1 2
  • SDR22E1 3
  • CI-39k 3
  • CI39k 3
  • CC6 3

External Ids for NDUFA9 Gene

Previous Symbols for NDUFA9 Gene

  • NDUFS2L

Summaries for NDUFA9 Gene

Entrez Gene Summary for NDUFA9 Gene

  • 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]

GeneCards Summary for NDUFA9 Gene

NDUFA9 (NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 9, 39kDa) is a Protein Coding gene. Diseases associated with NDUFA9 include leigh syndrome and mitochondrial dna deletion syndromes. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and NADH dehydrogenase activity. An important paralog of this gene is ENSG00000255639.

UniProtKB/Swiss-Prot for NDUFA9 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be 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 NDUFA9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA9 Gene

Genomics for NDUFA9 Gene

Genomic Location for NDUFA9 Gene

Start:
4,649,095 bp from pter
End:
4,694,317 bp from pter
Size:
45,223 bases
Orientation:
Plus strand

Genomic View for NDUFA9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFA9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA9 Gene

Regulatory Elements for NDUFA9 Gene

Proteins for NDUFA9 Gene

  • Protein details for NDUFA9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16795-NDUA9_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial
    Protein Accession:
    Q16795
    Secondary Accessions:
    • Q14076
    • Q2NKX0

    Protein attributes for NDUFA9 Gene

    Size:
    377 amino acids
    Molecular mass:
    42510 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692; Note=Binds 1 FAD per subunit.;
    Quaternary structure:
    • Complex I is composed of 45 different subunits. This a component of the hydrophobic protein fraction. Interacts with BLOC1S1. Interacts with SLC2A4 (By similarity).
    SequenceCaution:
    • Sequence=CAA54099.1; Type=Frameshift; Positions=18; Evidence={ECO:0000305};

neXtProt entry for NDUFA9 Gene

Proteomics data for NDUFA9 Gene at MOPED

Post-translational modifications for NDUFA9 Gene

  • Acetylated on lysine residues. BLOC1S1 is required for acetylation.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys137 and Lys234

Other Protein References for NDUFA9 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFA9 Gene

Domains for NDUFA9 Gene

Gene Families for NDUFA9 Gene

HGNC:
  • SDRE :Short chain dehydrogenase/reductase superfamily / Extended SDR fold
  • comI :Mitochondrial respiratory chain complex / Complex I

Protein Domains for NDUFA9 Gene

UniProtKB/Swiss-Prot:

NDUA9_HUMAN
Family:
  • Belongs to the complex I NDUFA9 subunit family.:
    • Q16795
genes like me logo Genes that share domains with NDUFA9: view

Function for NDUFA9 Gene

Molecular function for NDUFA9 Gene

GENATLAS Biochemistry: NADH ubiquinone oxidoreductase (Q reductase),component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron sulfur-protein 2-like,inner mitochondrial membrane,homolog to 39kDa bovine subunit
UniProtKB/Swiss-Prot Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be 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 Ontology (GO) - Molecular Function for NDUFA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity --
GO:0003954 NADH dehydrogenase activity NAS 8486360
GO:0005515 protein binding IPI 19103604
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 8486360
genes like me logo Genes that share ontologies with NDUFA9: view

Phenotypes for NDUFA9 Gene

GenomeRNAi human phenotypes for NDUFA9:
genes like me logo Genes that share phenotypes with NDUFA9: view

miRNA for NDUFA9 Gene

miRTarBase miRNAs that target NDUFA9

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for NDUFA9 Gene

Localization for NDUFA9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA9 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFA9 Gene COMPARTMENTS Subcellular localization image for NDUFA9 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for NDUFA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I IDA 12611891
GO:0005759 mitochondrial matrix IDA 8486360
GO:0031966 mitochondrial membrane IDA 17209039
genes like me logo Genes that share ontologies with NDUFA9: view

Pathways for NDUFA9 Gene

genes like me logo Genes that share pathways with NDUFA9: view

Gene Ontology (GO) - Biological Process for NDUFA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 9878551
GO:0006694 steroid biosynthetic process --
GO:0006814 sodium ion transport NAS 8486360
GO:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
genes like me logo Genes that share ontologies with NDUFA9: view

Compounds for NDUFA9 Gene

(8) HMDB Compounds for NDUFA9 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Iron
  • Armco iron
7439-89-6
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
QH2
  • CoQH2
56275-39-9

(1) Drugbank Compounds for NDUFA9 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target
genes like me logo Genes that share compounds with NDUFA9: view

Transcripts for NDUFA9 Gene

Unigene Clusters for NDUFA9 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA9 Gene

No ASD Table

Relevant External Links for NDUFA9 Gene

GeneLoc Exon Structure for
NDUFA9
ECgene alternative splicing isoforms for
NDUFA9

Expression for NDUFA9 Gene

mRNA expression in normal human tissues for NDUFA9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDUFA9 Gene

This gene is overexpressed in Heart - Left Ventricle (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFA9 Gene

SOURCE GeneReport for Unigene cluster for NDUFA9 Gene Hs.75227

genes like me logo Genes that share expressions with NDUFA9: view

Orthologs for NDUFA9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFA9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFA9 36
  • 99.29 (n)
  • 99.47 (a)
NDUFA9 37
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NDUFA9 36
  • 82.67 (n)
  • 79.47 (a)
NDUFA9 37
  • 78 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 85 (a)
OneToMany
NDUFA9 36
  • 87.68 (n)
  • 85.11 (a)
mouse
(Mus musculus)
Mammalia Ndufa9 36
  • 79.34 (n)
  • 78.46 (a)
Ndufa9 16
Ndufa9 37
  • 78 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 71 (a)
ManyToMany
-- 37
  • 73 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ndufa9 36
  • 78.72 (n)
  • 76.06 (a)
chicken
(Gallus gallus)
Aves NDUFA9 36
  • 71.81 (n)
  • 70.25 (a)
NDUFA9 37
  • 68 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 63 (a)
ManyToMany
-- 37
  • 67 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC64316 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa9 36
  • 67.2 (n)
  • 65.96 (a)
Str.8681 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.672 36
zebrafish
(Danio rerio)
Actinopterygii ndufa9 37
  • 61 (a)
ManyToMany
si:ch211-251f6.5 36
  • 67.85 (n)
  • 69.7 (a)
si:ch211-251f6.5 37
  • 56 (a)
ManyToMany
wufc41f12 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010792 36
  • 49 (n)
  • 48.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6020 36
  • 50 (n)
  • 46.2 (a)
CG6020 37
  • 40 (a)
OneToMany
CG6020 38
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea Y53G8AL.2 36
  • 49.12 (n)
  • 43.61 (a)
Y53G8AL.2 37
  • 30 (a)
OneToMany
Y53G8AL.2 38
  • 41 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G20360 36
  • 55.93 (n)
  • 50.42 (a)
corn
(Zea mays)
Liliopsida Zm.8933 36
rice
(Oryza sativa)
Liliopsida Os.10342 36
Os02g0816800 36
  • 53.84 (n)
  • 48.41 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.5022 36
bread mold
(Neurospora crassa)
Ascomycetes NCU02373 36
  • 45.05 (n)
  • 36.67 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8552 37
  • 29 (a)
OneToMany
Species with no ortholog for NDUFA9:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NDUFA9 Gene

ENSEMBL:
Gene Tree for NDUFA9 (if available)
TreeFam:
Gene Tree for NDUFA9 (if available)

Paralogs for NDUFA9 Gene

Paralogs for NDUFA9 Gene

Pseudogenes.org Pseudogenes for NDUFA9 Gene

genes like me logo Genes that share paralogs with NDUFA9: view

Variants for NDUFA9 Gene

Sequence variations from dbSNP and Humsavar for NDUFA9 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs15550 -- 4,687,304(+) TTTTT(G/T)TTAAA utr-variant-3-prime
rs972770 -- 4,653,370(-) AAGTT(C/T)TACCA intron-variant
rs1009633 -- 4,669,921(+) TATCA(A/G)AATCT intron-variant
rs1009634 -- 4,670,147(+) GGAGT(A/G)AGTAT intron-variant
rs1029767 -- 4,682,496(-) ATTGG(G/T)AAGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFA9 Gene

Variant ID Type Subtype PubMed ID
nsv832318 CNV Gain 17160897
dgv1346n71 CNV Loss 21882294
dgv1347n71 CNV Loss 21882294
nsv587 CNV Insertion 18451855
dgv1348n71 CNV Loss 21882294
dgv1349n71 CNV Loss 21882294
esv269735 CNV Insertion 20981092
esv273803 CNV Insertion 20981092

Relevant External Links for NDUFA9 Gene

HapMap Linkage Disequilibrium report
NDUFA9
Human Gene Mutation Database (HGMD)
NDUFA9

Disorders for NDUFA9 Gene

(1) OMIM Diseases for NDUFA9 Gene (603834)

Relevant External Links for NDUFA9

Genetic Association Database (GAD)
NDUFA9
Human Genome Epidemiology (HuGE) Navigator
NDUFA9
genes like me logo Genes that share disorders with NDUFA9: view

No data available for UniProtKB/Swiss-Prot for NDUFA9 Gene

Publications for NDUFA9 Gene

  1. Construction and evaluation of a hncDNA library of human 12p transcribed sequences derived from a somatic cell hybrid. (PMID: 8486360) Baens M. … Marynen P. (Genomics 1993) 2 3 4
  2. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PMID: 12611891) Murray J. … Capaldi R.A. (J. Biol. Chem. 2003) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  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 J.M. … Deary I.J. (Mech. Ageing Dev. 2008) 3 49

Products for NDUFA9 Gene

Sources for NDUFA9 Gene

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