Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NDUFA9 Gene

Aliases for NDUFA9 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A9 2 3 5
  • 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, 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 HGNC Symbols for NDUFA9 Gene

  • NDUFS2L

Previous GeneCards Identifiers for NDUFA9 Gene

  • GC12P004495
  • GC12P004650
  • GC12P004628
  • GC12P004759
  • GC12P004714
  • GC12P004760

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:Ubiquinone Oxidoreductase Subunit A9) is a Protein Coding gene. Diseases associated with NDUFA9 include leigh syndrome and leigh syndrome with leukodystrophy. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include protein complex binding and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. 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

Regulatory Elements for NDUFA9 Gene

Promoters for NDUFA9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFA9 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFA9 Gene

Chromosome:
12
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

Genes around NDUFA9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    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.
  • Ubiquitination at Lys 137 and Lys 234
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFA9 Gene

Domains & Families for NDUFA9 Gene

Protein Domains for NDUFA9 Gene

Suggested Antigen Peptide Sequences for NDUFA9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16795

UniProtKB/Swiss-Prot:

NDUA9_HUMAN :
  • Belongs to the complex I NDUFA9 subunit family.
Family:
  • Belongs to the complex I NDUFA9 subunit family.
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:0005515 protein binding IPI 19103604
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 8486360
GO:0032403 protein complex binding IDA 23209302
genes like me logo Genes that share ontologies with NDUFA9: view
genes like me logo Genes that share phenotypes with NDUFA9: view

Human Phenotype Ontology for NDUFA9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for NDUFA9 Gene

Pathways & Interactions 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:0006814 sodium ion transport NAS 8486360
GO:0055114 oxidation-reduction process IEA --
GO:1901006 ubiquinone-6 biosynthetic process IBA --
genes like me logo Genes that share ontologies with NDUFA9: view

No data available for SIGNOR curated interactions for NDUFA9 Gene

Drugs & Compounds for NDUFA9 Gene

(5) Drugs for NDUFA9 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(3) Additional Compounds for NDUFA9 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
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:

miRNA Products

Inhibitory RNA Products

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for NDUFA9 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.8).

Protein differential expression in normal tissues from HIPED for NDUFA9 Gene

This gene is overexpressed in Nasal epithelium (14.4) and Heart (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NDUFA9: view

Protein tissue co-expression partners for NDUFA9 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for NDUFA9 Gene

Orthologs for NDUFA9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFA9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFA9 35
  • 82.67 (n)
  • 79.47 (a)
NDUFA9 36
  • 78 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NDUFA9 35
  • 87.68 (n)
  • 85.11 (a)
-- 36
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ndufa9 35
  • 79.34 (n)
  • 78.46 (a)
Ndufa9 16
Ndufa9 36
  • 78 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia NDUFA9 35
  • 99.29 (n)
  • 99.47 (a)
NDUFA9 36
  • 99 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ndufa9 35
  • 78.72 (n)
  • 76.06 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 71 (a)
ManyToMany
-- 36
  • 73 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves NDUFA9 35
  • 71.81 (n)
  • 70.25 (a)
NDUFA9 36
  • 68 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 63 (a)
ManyToMany
-- 36
  • 67 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa9 35
  • 67.2 (n)
  • 65.96 (a)
Str.8681 35
African clawed frog
(Xenopus laevis)
Amphibia MGC64316 35
zebrafish
(Danio rerio)
Actinopterygii si:ch211-251f6.5 35
  • 67.85 (n)
  • 69.7 (a)
wufc41f12 35
ndufa9 36
  • 61 (a)
ManyToMany
si:ch211-251f6.5 36
  • 56 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.672 35
fruit fly
(Drosophila melanogaster)
Insecta CG6020 37
  • 44 (a)
CG6020 35
  • 50 (n)
  • 46.2 (a)
CG6020 36
  • 40 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010792 35
  • 49 (n)
  • 48.19 (a)
worm
(Caenorhabditis elegans)
Secernentea Y53G8AL.2 37
  • 41 (a)
Y53G8AL.2 35
  • 49.12 (n)
  • 43.61 (a)
Y53G8AL.2 36
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G20360 35
  • 55.93 (n)
  • 50.42 (a)
rice
(Oryza sativa)
Liliopsida Os.10342 35
Os02g0816800 35
  • 53.84 (n)
  • 48.41 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.5022 35
corn
(Zea mays)
Liliopsida Zm.8933 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02373 35
  • 45.05 (n)
  • 36.67 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8552 36
  • 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
rs15550 -- 4,687,304(+) TTTTT(G/T)TTAAA utr-variant-3-prime
rs972770 -- 4,653,370(-) AAGTT(C/T)TACCA intron-variant
rs1029767 -- 4,682,496(-) ATTGG(G/T)AAGAT intron-variant
rs1049575 -- 4,687,387(+) CACTT(C/T)TAGCA utr-variant-3-prime
rs1049576 -- 4,687,399(+) ACGTT(C/T)TAGAA utr-variant-3-prime

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

Variation tolerance for NDUFA9 Gene

Residual Variation Intolerance Score: 80.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.74; 46.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFA9 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA9 Gene

Disorders for NDUFA9 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NDUFA9 Gene - From: OMIM, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
mitochondrial dna deletion syndromes
  • mtdna deletion syndromes
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFA9

Genetic Association Database (GAD)
NDUFA9
Human Genome Epidemiology (HuGE) Navigator
NDUFA9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFA9
genes like me logo Genes that share disorders with NDUFA9: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for NDUFA9 Gene

Sources for NDUFA9 Gene

Back to Top

Content