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Aliases for NDUFA12 Gene

Aliases for NDUFA12 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A12 2 3 5
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 12 2 3
  • NADH-Ubiquinone Oxidoreductase Subunit B17.2 3 4
  • 13 KDa Differentiation-Associated Protein 3 4
  • Complex I B17.2 Subunit 2 3
  • CI-B17.2 3 4
  • DAP13 3 4
  • Complex I-B17.2 4
  • CIB17.2 4
  • B17.2 3

External Ids for NDUFA12 Gene

Previous GeneCards Identifiers for NDUFA12 Gene

  • GC12M093868
  • GC12M095365
  • GC12M092432
  • GC12M095291

Summaries for NDUFA12 Gene

Entrez Gene Summary for NDUFA12 Gene

  • This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

GeneCards Summary for NDUFA12 Gene

NDUFA12 (NADH:Ubiquinone Oxidoreductase Subunit A12) is a Protein Coding gene. Diseases associated with NDUFA12 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 electron carrier activity and NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for NDUFA12 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 NDUFA12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA12 Gene

Genomics for NDUFA12 Gene

Regulatory Elements for NDUFA12 Gene

Promoters for NDUFA12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFA12 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFA12 Gene

Chromosome:
12
Start:
94,897,055 bp from pter
End:
95,003,770 bp from pter
Size:
106,716 bases
Orientation:
Minus strand

Genomic View for NDUFA12 Gene

Genes around NDUFA12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA12 Gene

Proteins for NDUFA12 Gene

  • Protein details for NDUFA12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UI09-NDUAC_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
    Protein Accession:
    Q9UI09
    Secondary Accessions:
    • F8VQS7
    • Q53XX0
    • Q9BRV6

    Protein attributes for NDUFA12 Gene

    Size:
    145 amino acids
    Molecular mass:
    17114 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Alternative splice isoforms for NDUFA12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFA12 Gene

Proteomics data for NDUFA12 Gene at MOPED

Post-translational modifications for NDUFA12 Gene

  • Ubiquitination at Lys 8 and Lys 101
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA12 Gene

Antibody Products

No data available for DME Specific Peptides for NDUFA12 Gene

Domains & Families for NDUFA12 Gene

Protein Domains for NDUFA12 Gene

Suggested Antigen Peptide Sequences for NDUFA12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UI09

UniProtKB/Swiss-Prot:

NDUAC_HUMAN :
  • Belongs to the complex I NDUFA12 subunit family.
Family:
  • Belongs to the complex I NDUFA12 subunit family.
genes like me logo Genes that share domains with NDUFA12: view

Function for NDUFA12 Gene

Molecular function for NDUFA12 Gene

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 NDUFA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity IEA,NAS 10830904
genes like me logo Genes that share ontologies with NDUFA12: view
genes like me logo Genes that share phenotypes with NDUFA12: view

Human Phenotype Ontology for NDUFA12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA12 Gene

Localization for NDUFA12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA12 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFA12 Gene COMPARTMENTS Subcellular localization image for NDUFA12 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for NDUFA12 Gene

Pathways & Interactions for NDUFA12 Gene

genes like me logo Genes that share pathways with NDUFA12: view

Gene Ontology (GO) - Biological Process for NDUFA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0006979 response to oxidative stress IDA 12857734
GO:0022904 respiratory electron transport chain TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFA12: view

No data available for SIGNOR curated interactions for NDUFA12 Gene

Drugs & Compounds for NDUFA12 Gene

(5) Drugs for NDUFA12 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 NDUFA12 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 NDUFA12: view

Transcripts for NDUFA12 Gene

Unigene Clusters for NDUFA12 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA12 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5
SP1: -
SP2:
SP3: - -

Relevant External Links for NDUFA12 Gene

GeneLoc Exon Structure for
NDUFA12
ECgene alternative splicing isoforms for
NDUFA12

Expression for NDUFA12 Gene

mRNA expression in normal human tissues for NDUFA12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDUFA12 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.0).

Protein differential expression in normal tissues from HIPED for NDUFA12 Gene

This gene is overexpressed in Nasal epithelium (33.3) and Heart (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NDUFA12 Gene



SOURCE GeneReport for Unigene cluster for NDUFA12 Gene Hs.506374

genes like me logo Genes that share expression patterns with NDUFA12: view

Protein tissue co-expression partners for NDUFA12 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NDUFA12 Gene

Orthologs for NDUFA12 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFA12 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFA12 35
  • 91.72 (n)
  • 89.66 (a)
NDUFA12 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFA12 35
  • 91.49 (n)
  • 91.03 (a)
NDUFA12 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufa12 35
  • 85.75 (n)
  • 88.97 (a)
Ndufa12 16
Ndufa12 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFA12 35
  • 99.77 (n)
  • 100 (a)
NDUFA12 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa12 35
  • 86.44 (n)
  • 90.34 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFA12 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA12 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFA12 35
  • 74.07 (n)
  • 74.31 (a)
NDUFA12 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFA12 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa12 35
  • 71.9 (n)
  • 67.86 (a)
Str.16251 35
zebrafish
(Danio rerio)
Actinopterygii Dr.14478 35
ndufa12 35
  • 65.48 (n)
  • 65 (a)
ndufa12 36
  • 65 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.358 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008653 35
  • 49 (n)
  • 43.28 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3214 35
  • 47.62 (n)
  • 41.35 (a)
CG3214 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y94H6A.8 35
  • 47.9 (n)
  • 39.26 (a)
Y94H6A.8 36
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5209 36
  • 47 (a)
OneToOne
Species with no ortholog for NDUFA12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFA12 Gene

ENSEMBL:
Gene Tree for NDUFA12 (if available)
TreeFam:
Gene Tree for NDUFA12 (if available)

Paralogs for NDUFA12 Gene

genes like me logo Genes that share paralogs with NDUFA12: view

No data available for Paralogs for NDUFA12 Gene

Variants for NDUFA12 Gene

Sequence variations from dbSNP and Humsavar for NDUFA12 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs17850017 - 94,971,568(+) AGCAG(C/T)AAGTG reference, missense, utr-variant-3-prime
rs249148 -- 94,996,616(+) agttc(A/G)agacc intron-variant
rs249182 -- 94,985,777(-) gtgag(C/G)tcttg intron-variant
rs835038 -- 94,993,626(-) ttttt(C/T)tgaga intron-variant
rs835044 -- 95,003,776(+) GGTTC(C/T)CACGC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NDUFA12 Gene

Variant ID Type Subtype PubMed ID
nsv7234 OTHER Inversion 18451855
esv2746231 CNV Deletion 23290073
esv2676932 CNV Deletion 23128226
esv1218332 CNV Deletion 17803354
esv2662032 CNV Deletion 23128226
nsv53404 CNV Loss 16902084

Variation tolerance for NDUFA12 Gene

Residual Variation Intolerance Score: 65.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFA12 Gene

HapMap Linkage Disequilibrium report
NDUFA12
Human Gene Mutation Database (HGMD)
NDUFA12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA12 Gene

Disorders for NDUFA12 Gene

MalaCards: The human disease database

(7) MalaCards diseases for NDUFA12 Gene - From: OMIM, Orphanet, DISEASES, 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
placenta praevia
  • placenta previa
orbital cancer
  • malignant neoplasm of orbit
nuclear gene-encoded leigh syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUAC_HUMAN
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:21617257}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDUFA12

Genetic Association Database (GAD)
NDUFA12
Human Genome Epidemiology (HuGE) Navigator
NDUFA12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFA12
genes like me logo Genes that share disorders with NDUFA12: view

No data available for Genatlas for NDUFA12 Gene

Publications for NDUFA12 Gene

  1. Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I- deficient-patients. (PMID: 10830904) Triepels R. … van den Heuvel L. (Hum. Genet. 2000) 2 3 4 67
  2. NADH:ubiquinone oxidoreductase from bovine heart mitochondria: sequence of a novel 17.2-kDa subunit. (PMID: 9827566) Skehel J.M. … Walker J.E. (FEBS Lett. 1998) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3

Products for NDUFA12 Gene

Sources for NDUFA12 Gene

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