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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
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 12 3
  • 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA12 Gene

Genomics for NDUFA12 Gene

Regulatory Elements for NDUFA12 Gene

Enhancers for NDUFA12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G095198 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.8 -199.6 -199607 10.4 PKNOX1 CREB3L1 ARNT SIN3A FEZF1 ZNF766 FOS ZNF592 MEF2D SMARCA4 NDUFA12 FGD6 VEZT GC12P095210 RPL14P4
GH12G095002 1.1 ENCODE 24.7 +0.2 210 2.0 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 NDUFA12 PIR32865 GC12M095002 GC12M095001 GC12M095000
GH12G095172 1.4 Ensembl ENCODE dbSUPER 13.5 -169.9 -169904 2.1 PKNOX1 ATF1 CBX3 TBL1XR1 ZNF133 SIN3A RAD21 TCF12 ZNF766 GATA2 FGD6 VEZT NDUFA12 GC12P095210 RPL14P4
GH12G094982 0.8 Ensembl ENCODE 19.5 +19.8 19780 2.8 ZNF121 KLF1 GATA3 ZNF366 BHLHE40 TEAD4 FOS NDUFA12 FGD6 SNRPF GC12M094957 GC12M095001 GC12M095002 PIR32865 GC12M095000
GH12G095072 1.1 ENCODE 11.6 -69.7 -69691 2.8 HDGF CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF766 VEZT NDUFA12 FGD6 NR2C1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFA12 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFA12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000055826 370 1601 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5

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

Post-translational modifications for NDUFA12 Gene

  • Ubiquitination at Lys8 and posLast=101101
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA12 Gene

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 NAS,IEA 10830904
GO:0009055 electron carrier activity IEA --
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

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFA12 gene
Compartment Confidence
mitochondrion 5
cytosol 5
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NDUFA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0005747 mitochondrial respiratory chain complex I IDA,IMP 24746669
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFA12: view

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:0007585 respiratory gaseous exchange NAS 10830904
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0042775 mitochondrial ATP synthesis coupled electron transport IMP 24746669
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for NDUFA12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFA12 Gene:

NDUFA12

SOURCE GeneReport for Unigene cluster for NDUFA12 Gene:

Hs.506374

Evidence on tissue expression from TISSUES for NDUFA12 Gene

  • Kidney(4.4)
  • Adrenal gland(4.3)
  • Liver(4.3)
  • Muscle(2.6)
  • Heart(2.2)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA12 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • lung
Abdomen:
  • liver
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with NDUFA12: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia NDUFA12 34 35
  • 99.77 (n)
cow
(Bos Taurus)
Mammalia NDUFA12 34 35
  • 91.72 (n)
dog
(Canis familiaris)
Mammalia NDUFA12 34 35
  • 91.49 (n)
rat
(Rattus norvegicus)
Mammalia Ndufa12 34
  • 86.44 (n)
mouse
(Mus musculus)
Mammalia Ndufa12 34 16 35
  • 85.75 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFA12 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA12 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFA12 34 35
  • 74.07 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFA12 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa12 34
  • 71.9 (n)
Str.16251 34
zebrafish
(Danio rerio)
Actinopterygii ndufa12 34 35
  • 65.48 (n)
Dr.14478 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.358 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008653 34
  • 49 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3214 34 35
  • 47.62 (n)
worm
(Caenorhabditis elegans)
Secernentea Y94H6A.8 34 35
  • 47.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5209 35
  • 47 (a)
OneToOne
Species where no ortholog for NDUFA12 was found in the sources mined by GeneCards:
  • 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
rs387907139 Pathogenic 94,994,249(-) GTCAC(C/G/T)GATGG intron-variant, reference, stop-gained
rs138865666 Likely benign 95,003,637(+) GGCCG(C/G)TGATC reference, missense
rs141719682 Likely benign 95,003,615(+) AGATA(A/C/G)CCTCG reference, synonymous-codon
rs1000018482 -- 95,001,782(+) TCACT(A/G)CAACT intron-variant
rs1000102385 -- 95,000,834(+) TCTCT(A/T)TATTA intron-variant

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

Variant ID Type Subtype PubMed ID
esv1218332 CNV deletion 17803354
esv2662032 CNV deletion 23128226
esv2676932 CNV deletion 23128226
esv2746231 CNV deletion 23290073
esv3630426 CNV loss 21293372
nsv1071048 CNV deletion 25765185
nsv1120686 CNV deletion 24896259
nsv1123020 CNV deletion 24896259
nsv53404 CNV deletion 16902084
nsv559806 CNV loss 21841781
nsv7234 OTHER inversion 18451855

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

Human Gene Mutation Database (HGMD)
NDUFA12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA12

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

Disorders for NDUFA12 Gene

MalaCards: The human disease database

(8) MalaCards diseases for NDUFA12 Gene - From: OMIM, GeneTests, 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
mitochondrial dna-associated leigh syndrome
  • leigh disease, maternally inherited
- 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 64
  2. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. (PMID: 21617257) Ostergaard E. … Nijtmans L. (J. Med. Genet. 2011) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. 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 64
  5. 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 64

Products for NDUFA12 Gene

Sources for NDUFA12 Gene

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