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Aliases for NDUFA12 Gene

Aliases for NDUFA12 Gene

  • 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

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 Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 12) is a Protein Coding gene. Diseases associated with NDUFA12 include orbital cancer and placenta praevia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and NADH dehydrogenase 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

Genomic Location for NDUFA12 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFA12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA12 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys101

Other Protein References for NDUFA12 Gene

No data available for DME Specific Peptides for NDUFA12 Gene

Domains for NDUFA12 Gene

Gene Families for NDUFA12 Gene

HGNC:
  • comI :Mitochondrial respiratory chain complex / Complex I

Protein Domains for NDUFA12 Gene

UniProtKB/Swiss-Prot:

NDUAC_HUMAN
Family:
  • Belongs to the complex I NDUFA12 subunit family.:
    • Q9UI09
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 10830904
GO:0009055 electron carrier activity IEA --
genes like me logo Genes that share ontologies with NDUFA12: view

Phenotypes for NDUFA12 Gene

GenomeRNAi human phenotypes for NDUFA12:
genes like me logo Genes that share phenotypes with NDUFA12: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for NDUFA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I IDA 12611891
GO:0016020 membrane --
genes like me logo Genes that share ontologies with NDUFA12: view

Pathways 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:0006979 response to oxidative stress IDA 12857734
GO:0007585 respiratory gaseous exchange NAS 10830904
GO:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with NDUFA12: view

Compounds for NDUFA12 Gene

(8) HMDB Compounds for NDUFA12 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 NDUFA12 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 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 (4.0).

Integrated Proteomics: protein expression 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 expressions with NDUFA12: view

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 36
  • 99.77 (n)
  • 100 (a)
NDUFA12 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFA12 36
  • 91.72 (n)
  • 89.66 (a)
NDUFA12 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFA12 36
  • 91.49 (n)
  • 91.03 (a)
NDUFA12 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufa12 36
  • 85.75 (n)
  • 88.97 (a)
Ndufa12 16
Ndufa12 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFA12 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA12 37
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa12 36
  • 86.44 (n)
  • 90.34 (a)
chicken
(Gallus gallus)
Aves NDUFA12 36
  • 74.07 (n)
  • 74.31 (a)
NDUFA12 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFA12 37
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa12 36
  • 71.9 (n)
  • 67.86 (a)
Str.16251 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.358 36
zebrafish
(Danio rerio)
Actinopterygii Dr.14478 36
ndufa12 36
  • 65.48 (n)
  • 65 (a)
ndufa12 37
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008653 36
  • 49 (n)
  • 43.28 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3214 36
  • 47.62 (n)
  • 41.35 (a)
CG3214 37
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y94H6A.8 36
  • 47.9 (n)
  • 39.26 (a)
Y94H6A.8 37
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5209 37
  • 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 MAF
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
rs835045 -- 95,003,981(+) ATTCC(C/T)CCTTT 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

Relevant External Links for NDUFA12 Gene

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

Disorders for NDUFA12 Gene

(1) OMIM Diseases for NDUFA12 Gene (614530)

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.

(3) University of Copenhagen DISEASES for NDUFA12 Gene

Relevant External Links for NDUFA12

Genetic Association Database (GAD)
NDUFA12
Human Genome Epidemiology (HuGE) Navigator
NDUFA12
genes like me logo Genes that share disorders with NDUFA12: view

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
  2. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  3. 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
  4. 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
  5. 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

Products for NDUFA12 Gene

Sources for NDUFA12 Gene

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