Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



NDUFA12 Gene

protein-coding   GIFtS: 60
GCID: GC12M095291

NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 12

  See NDUFA12-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 121 2     NADH-Ubiquinone Oxidoreductase Subunit B17.22 3
Complex I B17.2 Subunit1 2     B17.22
13 KDa Differentiation-Associated Protein2 3     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 122
CI-B17.22 3     CIB17.23
DAP132 3     Complex I-B17.23

External Ids:    HGNC: 239871   Entrez Gene: 559672   Ensembl: ENSG000001847527   OMIM: 6145305   UniProtKB: Q9UI093   

Export aliases for NDUFA12 gene to outside databases

Previous GC identifers: GC12M093868 GC12M095365 GC12M092432


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 placenta praevia, and orbital cancer. GO annotations related to this gene include NADH dehydrogenase activity and electron carrier activity.

UniProtKB/Swiss-Prot: NDUAC_HUMAN, Q9UI09
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 Wiki entry for NDUFA12 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFA12 gene promoter:
         GR   TBP   CUTL1   POU2F1   Ik-2   FOXJ2 (long isoform)   POU2F1a   FOXJ2   GR-alpha   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFA12 promoter sequence
   Search Chromatin IP Primers for NDUFA12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFA12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q22   Ensembl cytogenetic band:  12q22   HGNC cytogenetic band: 12q22

NDUFA12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFA12 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M095291:  view genomic region     (about GC identifiers)

Start:
95,290,831 bp from pter      End:
95,397,546 bp from pter
Size:
106,716 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: NDUAC_HUMAN, Q9UI09 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12  
Size: 145 amino acids; 17114 Da
Subunit: Complex I is composed of 45 different subunits
Secondary accessions: F8VQS7 Q53XX0 Q9BRV6
Alternative splicing: 2 isoforms:  Q9UI09-1   Q9UI09-2   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for NDUFA12: NX_Q9UI09

Explore proteomics data for NDUFA12 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys101
  • Modification sites at PhosphoSitePlus

  • See NDUFA12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001245267.1  NP_061326.1  

    ENSEMBL proteins: 
     ENSP00000449144   ENSP00000448846   ENSP00000450096   ENSP00000330737   ENSP00000450130  
     ENSP00000448545  
    Reactome Protein details: Q9UI09

    NDUFA12 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for NDUFA12
    OriGene Protein Over-expression Lysate for NDUFA12
    OriGene MassSpec for NDUFA12
    OriGene Custom Protein Services for NDUFA12
    GenScript Custom Purified and Recombinant Proteins Services for NDUFA12
    Novus Biologicals NDUFA12 Protein
    Novus Biologicals NDUFA12 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for NDUFA12 

     
    antibodies-online proteins for NDUFA12 (5 products) 

     
    antibodies-online peptides for NDUFA12

    NDUFA12 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for NDUFA12
    OriGene Custom Antibody Services for NDUFA12
    Novus Biologicals NDUFA12 Antibodies
    Abcam antibodies for NDUFA12
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for NDUFA12
    antibodies-online antibodies for NDUFA12 (15 products) 

    NDUFA12 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NDUFA12
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NDUFA12
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for NDUFA12 
    antibodies-online kits for NDUFA12 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    comI: Mitochondrial respiratory chain complex / Complex I

    1 InterPro protein domain:
     IPR007763 NDUFA12

    Graphical View of Domain Structure for InterPro Entry Q9UI09

    ProtoNet protein and cluster: Q9UI09

    1 Blocks protein domain: IPB007763 NADH:ubiquinone oxidoreductase 17.2 kD subunit

    UniProtKB/Swiss-Prot: NDUAC_HUMAN, Q9UI09
    Similarity: Belongs to the complex I NDUFA12 subunit family


    Find genes that share domains with NDUFA12           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDUAC_HUMAN, Q9UI09
    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003954NADH dehydrogenase activity ----
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS10830904
    GO:0009055electron carrier activity IEA--
         
    Find genes that share ontologies with NDUFA12           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NDUFA12:
     Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NDUFA12

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat NDUFA12 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate NDUFA12
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NDUFA12
    Predesigned siRNA for gene silencing in human, mouse, rat NDUFA12

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NDUFA12

    Clone
    Products:
         
    OriGene clones in human, mouse for NDUFA12 (see all 6)
    OriGene ORF clones in mouse, rat for NDUFA12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NDUFA12 (NM_018838)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NDUFA12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFA12

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NDUFA12
    Browse ESI BIO Cell Lines and PureStem Progenitors for NDUFA12 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA12


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    NDUAC_HUMAN, Q9UI09: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I IDA12611891
    GO:0016020membrane ----

    Find genes that share ontologies with NDUFA12           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for NDUFA12 About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Oxidative phosphorylation0.64
    Respiratory electron transport0.81
    Parkinson's disease0.57
    Electron Transport Chain0.75
    Huntington's disease0.45
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Alzheimer's disease
    Alzheimer's disease0.44


    Find genes that share SuperPaths with NDUFA12           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for NDUFA12
        Electron Transport Chain

    1 Reactome Pathway for NDUFA12
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for NDUFA12) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NDUFA12
    Interactions:

        Search GeneGlobe Interaction Network for NDUFA12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NDUFA12 (Q9UI092, 3 ENSP000003307374) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF768Q9H5H42, 3, ENSP000003697774MINT-8263577 I2D: score=2 STRING: ENSP00000369777
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    MDM2Q009873I2D: score=1 
    NDUFC1ENSP000003777704STRING: ENSP00000377770 STRING: ENSP00000265500
    CYC1ENSP000003171594STRING: ENSP00000317159
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006979response to oxidative stress IDA12857734
    GO:0007585respiratory gaseous exchange NAS10830904
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with NDUFA12           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NDUFA12 (NDUAC)

    8 HMDB Compounds for NDUFA12    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    IronArmco iron (see all 19)7439-89-6--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    QH2CoQH2 (see all 5)56275-39-9--
    SulfideSulfide (see all 4)18496-25-8--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    1 DrugBank Compound for NDUFA12    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for NDUFA12 gene (2 alternative transcripts): 
    NM_001258338.1  NM_018838.4  

    Unigene Cluster for NDUFA12:

    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
    Hs.506374  [show with all ESTs]
    Unigene Representative Sequence: BM543134
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000552205 ENST00000547447 ENST00000550187 ENST00000547157 ENST00000538372
    ENST00000551991 ENST00000327772(uc001tdl.3) ENST00000547986 ENST00000546788

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NDUFA12 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate NDUFA12
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NDUFA12
    Predesigned siRNA for gene silencing in human, mouse, rat NDUFA12
    Clone
    Products:
         
    OriGene clones in human, mouse for NDUFA12 (see all 6)
    OriGene ORF clones in mouse, rat for NDUFA12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NDUFA12 (NM_018838)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NDUFA12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFA12
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NDUFA12
    OriGene qSTAR qPCR primer pairs in human, mouse for NDUFA12
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NDUFA12
      QuantiTect SYBR Green Assays in human, mouse, rat NDUFA12
      QuantiFast Probe-based Assays in human, mouse, rat NDUFA12

    Additional mRNA sequence: 

    AF112208.1 AF217092.1 AK222619.1 BC005936.1 BT007220.1 U34343.1 

    7 DOTS entries:

    DT.100818873  DT.100818870  DT.91751706  DT.443618  DT.86854086  DT.95178746  DT.100659636 

    Selected AceView cDNA sequences (see all 199):

    F18912 BG198353 NM_018838 AA426035 CK823112 AA733058 CB110742 CK823111 
    CB109322 BM717058 CB109230 BG941873 AW327926 BI085091 AA573398 AA699514 
    N30253 BG183370 AI369264 AA573407 AA553634 AA425720 CB109351 BQ100807 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA12    About this scheme

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


    ECgene alternative splicing isoforms for NDUFA12

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    NDUFA12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATTACTCT
    NDUFA12 Expression
    About this image


    NDUFA12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Lung (Respiratory System)
             Trachea
     
     Neural Tube (Nervous System)
             Telencephalon
    NDUFA12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFA12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.506374
        Custom PCR Arrays for NDUFA12
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NDUFA12
    OriGene qSTAR qPCR primer pairs in human, mouse for NDUFA12
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NDUFA12
    QuantiTect SYBR Green Assays in human, mouse, rat NDUFA12
    QuantiFast Probe-based Assays in human, mouse, rat NDUFA12
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA12

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for NDUFA12 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufa121 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 85.75(n)1
    88.97(a)1
      10 (48.83 cM)5
    664141  NM_025551.31  NP_079827.21 
     941989555 
    chicken
    (Gallus gallus)
    Aves NDUFA121 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 74.07(n)
    74.31(a)
      417907  NM_001184758.1  NP_001171687.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFA126
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex...
    73(a)
    1 ↔ 1
    5(30996864-31006253)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.162512 Transcribed sequence with weak similarity to protein more 77.61(n)    BX695797.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.144782 Transcribed sequence with weak similarity to protein more 80.86(n)    BI672521.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG32141 CG3214 47.62(n)
    41.35(a)
      33443  NM_001144298.2  NP_001137770.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y94H6A.81 Y94H6A.8 47.9(n)
    39.26(a)
      177056  NM_067846.4  NP_500247.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for NDUFA12 gene

    Find genes that share paralogs with NDUFA12           About GenesLikeMe


    5 Pseudogenes.org Pseudogenes for NDUFA12
    PGOHUM00000248481 PGOHUM00000234819 PGOHUM00000235212 PGOHUM00000235669 PGOHUM00000235867


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for NDUFA12 (see all 884)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350630031,2
    C--95206511(+) AGCAA-/CCAAAA 2 -- ds50010--------
    rs2007405781,2
    --95206512(+) GCAAC-/AAAAAA 2 -- ds50010--------
    rs782469661,2
    F--95206513(+) GCAACC/AAAAAA 2 -- ds50012Minor allele frequency- A:0.50NA 4
    rs1503028621,2
    --95206528(+) TGTGAC/TCCTAG 2 -- ds50010--------
    rs49236731,2
    C,F,A,H--95206653(+) AGAGCT/GTCAAT 2 -- ds500121Minor allele frequency- G:0.45NA EA NS WA CSA 1065
    rs1378571181,2
    --95206657(+) CGTCAA/GTAAAA 2 -- ds50010--------
    rs1830725111,2
    --95206699(+) TGTCTC/GTCCAT 2 -- ds50010--------
    rs1435338601,2
    --95206849(+) GCTACA/CCCAAT 2 -- ds50010--------
    rs1471767751,2
    --95206933(+) AGGCAA/CGAAAG 2 -- ds50010--------
    rs1996406251,2
    C--95207028(+) TTGCAC/TGTTTC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for NDUFA12 (95290831 - 95397546 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NDUFA12:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2746231CNV Deletion23290073
    esv2662032CNV Deletion23128226
    esv1218332CNV Deletion17803354
    esv2676932CNV Deletion23128226
    nsv53404CNV Loss16902084
    nsv7234OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): NDUFA12
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFA12
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFA12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 614530   
    OMIM disorders: 256000  
    UniProtKB/Swiss-Prot: NDUAC_HUMAN, Q9UI09
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 5 diseases for NDUFA12:    
    About MalaCards
    placenta praevia    orbital cancer    mitochondrial dna deletion syndromes    leigh syndrome due to mitochondrial complex i deficiency
    mitochondrial dna-associated leigh syndrome and narp

    3 diseases from the University of Copenhagen DISEASES database for NDUFA12:
    Placenta praevia     Orbital cancer     Leigh disease

    Find genes that share disorders with NDUFA12           About GenesLikeMe

    Genetic Association Database (GAD): NDUFA12
    Human Genome Epidemiology (HuGE) Navigator: NDUFA12 (1 document)

    Export disorders for NDUFA12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for NDUFA12 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with NDUFA12)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 10830904)1, 2, 3 Triepels R....van den Heuvel L. (Hum. Genet. 2000)
    2. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. (PubMed id 21617257)1, 2 Ostergaard E.... Nijtmans L. (J. Med. Genet. 2011)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (J. Biol. Chem. 2003)
    6. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    7. NADH:ubiquinone oxidoreductase from bovine heart mitochondria: sequence of a novel 17.2-kDa subunit. (PubMed id 9827566)1, 3 Skehel J.M....Walker J.E. (FEBS Lett. 1998)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 55967 HGNC: 23987 AceView: DAP13 Ensembl:ENSG00000184752 euGenes: HUgn55967
    ECgene: NDUFA12 Kegg: 55967 H-InvDB: NDUFA12

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for NDUFA12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for NDUFA12 gene:
    Search GeneIP for patents involving NDUFA12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for NDUFA12   OriGene RNAi products in human, mouse, rat for NDUFA12  
     OriGene qPCR primer pairs and template standards for NDUFA12   OriGene Protein Over-expression Lysate for NDUFA12  
     OriGene MassSpec for NDUFA12   OriGene clones in human, mouse for NDUFA12  
     OriGene qSTAR qPCR primer pairs in human, mouse for NDUFA12   OriGene Purified Protein for NDUFA12  
     OriGene ORF clones in mouse, rat for NDUFA12   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NDUFA12   OriGene Custom Protein Services for NDUFA12  

     
     
     Block miRNA regulation of human, mouse, rat NDUFA12 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NDUFA12
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFA12 Predesigned siRNA for gene silencing in human, mouse, rat NDUFA12
     QuantiFast Probe-based Assays in human, mouse, rat NDUFA12 QuantiTect SYBR Green Assays in human, mouse, rat NDUFA12
     Custom PCR Arrays for NDUFA12 Search Chromatin IP Primers for NDUFA12
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NDUFA12  Search GeneGlobe Interaction Network for NDUFA12
     Regulatory tfbs in NDUFA12 promoter
     GenScript Custom Purified and Recombinant Proteins Services for NDUFA12 GenScript cDNA clones with any tag delivered in your preferred vector for NDUFA12
     GenScript Custom Assay Services for NDUFA12 GenScript Custom overexpressing Cell Line Services for NDUFA12
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for NDUFA12 (NDUAC)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     NDUFA12 antibodies
     NDUFA12 proteins
     NDUFA12 lysates
     Antibodies for NDUFA12
     See all of Abcam's Antibodies, Kits and Proteins for NDUFA12
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for NDUFA12
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA12
     Browse SwitchGear 3'UTR luciferase reporter plasmids for NDUFA12
     SwitchGear Promoter luciferase reporter plasmids for NDUFA12
     ThermoFisher Antibody for NDUFA12
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFA12
     Browse compounds at ApexBio
     Search Addgene for plasmids for NDUFA12
      Search eBioscience for proteins for NDUFA12
      Search eBioscience for elisas for NDUFA12
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for NDUFA12
     antibodies-online antibodies for NDUFA12 (15 products)
     antibodies-online kits for NDUFA12 (6 products)
     antibodies-online peptides for NDUFA12
     antibodies-online proteins for NDUFA12 (5 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NDUFA12 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4