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NDUFA13 Gene

protein-coding   GIFtS: 59
GCID: GC19P019626

NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 13

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 131 2     CI-B16.62 3
GRIM192 3 5     GRIM-192 3
Complex I B16.6 Subunit1 2     NADH-Ubiquinone Oxidoreductase B16.6 Subunit2 3
Cell Death Regulatory Protein GRIM-192 3     B16.62
Complex I-B16.62 3     CDA0162
Gene Associated With Retinoic And IFN-Induced Mortality 19 Protein2 3     Cell Death-Regulatory Protein GRIM192
Gene Associated With Retinoic And Interferon-Induced Mortality 19 Protein2 3     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 132

External Ids:    HGNC: 171941   Entrez Gene: 510792   Ensembl: ENSG000001860107   OMIM: 6094355   UniProtKB: Q9P0J03   

Export aliases for NDUFA13 gene to outside databases

Previous GC identifers: GC19P019488 GC19P019189


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NDUFA13 Gene:
This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which
functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I
assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription
3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from
mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of
expressing a protein with a longer N-terminus have been found, but their biological validity has not been
determined. (provided by RefSeq, Oct 2009)

GeneCards Summary for NDUFA13 Gene:
NDUFA13 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13) is a protein-coding gene. Diseases associated with NDUFA13 include thyroid hurthle cell carcinoma, and kidney cancer. GO annotations related to this gene include NADH dehydrogenase activity and NADH dehydrogenase (ubiquinone) activity. An important paralog of this gene is ENSG00000258674.

UniProtKB/Swiss-Prot: NDUAD_HUMAN, Q9P0J0
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. Involved in the
interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by
interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in
CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes

Gene Wiki entry for NDUFA13 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)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFA13 gene promoter:
         ER-alpha   STAT1   Pax-2   STAT3   PPAR-gamma2   Pax-2a   RORalpha2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): NDUFA13 promoter sequence
   Search Chromatin IP Primers for NDUFA13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFA13


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

NDUFA13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFA13 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P019626:  view genomic region     (about GC identifiers)

Start:
19,626,545 bp from pter      End:
19,644,285 bp from pter
Size:
17,741 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NDUAD_HUMAN, Q9P0J0 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13  
Size: 144 amino acids; 16698 Da
Subunit: Complex I is composed of 45 different subunits. Interacts with CARD15, but not with CARD4. Interacts with
STAT3, but not with STAT1, STAT2 and STAT5A. Interacts with HHV-8 IRF1, in the nucleus, with HPV-16 E6 and SV40
LT. Interacts with OLFM4
Developmental stage: Expressed in numerous fetal tissues
Sequence caution: Sequence=AAD27748.1; Type=Erroneous initiation; Sequence=AAG44670.1; Type=Erroneous initiation;
Sequence=AAH00589.2; Type=Erroneous initiation;
Secondary accessions: Q6PKI0 Q9H2L3 Q9Y327

Explore the universe of human proteins at neXtProt for NDUFA13: NX_Q9P0J0

Explore proteomics data for NDUFA13 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys22, Lys99, Lys105
  • Modification sites at PhosphoSitePlus

  • See NDUFA13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057049.5  
    ENSEMBL proteins: 
     ENSP00000467274   ENSP00000423673   ENSP00000468317   ENSP00000465129   ENSP00000476093  
     ENSP00000252576   ENSP00000465471  
    Reactome Protein details: Q9P0J0

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    comI: Mitochondrial respiratory chain complex / Complex I

    1 InterPro protein domain:
     IPR009346 GRIM-19

    Graphical View of Domain Structure for InterPro Entry Q9P0J0

    ProtoNet protein and cluster: Q9P0J0

    1 Blocks protein domain: IPB009346 GRIM-19

    UniProtKB/Swiss-Prot: NDUAD_HUMAN, Q9P0J0
    Similarity: Belongs to the complex I NDUFA13 subunit family


    NDUFA13 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDUAD_HUMAN, Q9P0J0
    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. Involved in the
    interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by
    interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in
    CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes
    Induction: By IFNB1/IFN-beta combined with all-trans-retinoic acid (ATRA)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003954NADH dehydrogenase activity IMP16826196
    GO:0005515protein binding IPI12867595
    GO:0005524ATP binding NAS10924506
    GO:0008137NADH dehydrogenase (ubiquinone) activity IDA12611891
         
    NDUFA13 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ndufa13):
     cellular  embryogenesis  growth/size/body  mortality/aging 

    NDUFA13 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ndufa13tm1Xc for NDUFA13

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NDUFA13
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NDUAD_HUMAN, Q9P0J0: Mitochondrion inner membrane; Single-pass membrane protein; Matrix side. Nucleus. Note=May
    be translocated into the nucleus upon IFN/RA treatment
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm IDA10924506
    GO:0005737cytoplasm IDA10924506
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--

    NDUFA13 for ontologies           About GeneDecksing


    (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).
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    SuperPaths for NDUFA13 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
    Parkinson's disease0.57
    Respiratory electron transport0.81
    Huntington's disease0.45
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Non-alcoholic fatty liver disease (NAFLD)0.41
    Oxidative phosphorylation0.64
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Alzheimer's disease
    Alzheimer's disease0.44
    4EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for NDUFA13
        EGFR1 Signaling Pathway

    1 Reactome Pathway for NDUFA13
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for NDUFA13) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease


    NDUFA13 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFA13: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NDUFA13

    Selected Interacting proteins for NDUFA13 (Q9P0J01, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HTRA2O434641, 3EBI-372742,EBI-517086 I2D: score=1 
    STAT3P407633I2D: score=3 
    XRN1Q8IZH23I2D: score=3 
    EXOSC6Q5RKV63I2D: score=2 
    ICT1Q141973I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006606protein import into nucleus ----
    GO:0017148negative regulation of translation ----
    GO:0022904respiratory electron transport chain TAS--
    GO:0030262apoptotic nuclear changes ----
    GO:0030308negative regulation of cell growth IMP16826196

    NDUFA13 for ontologies           About GeneDecksing



    (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)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for NDUFA13 (NDUAD)

    8 HMDB Compounds for NDUFA13    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 NDUFA13    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    1 Novoseek inferred chemical compound relationship for NDUFA13 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 46.1 5 10924506 (4)



    NDUFA13 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NDUFA13 gene: 
    NM_015965.6  

    Unigene Cluster for NDUFA13:

    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
    Hs.534453  [show with all ESTs]
    Unigene Representative Sequence: BM809498
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000502506 ENST00000507754 ENST00000503283 ENST00000511584 ENST00000428459
    ENST00000511180 ENST00000606722 ENST00000252576(uc021uqu.1) ENST00000512771

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF261134.1 AF286697.1 AK129579.1 AK293859.1 BC000589.2 BC009189.2 

    21 DOTS entries:

    DT.97837253  DT.85104105  DT.95128935  DT.121492722  DT.100659277  DT.100659275  DT.100749181  DT.87008942 
    DT.87014811  DT.100659269  DT.121493040  DT.91767720  DT.95201938  DT.91873538  DT.75157373  DT.121493044 
    DT.121493157  DT.91930541  DT.95128932  DT.120808134  DT.91660070 

    Selected AceView cDNA sequences (see all 469):

    AI311010 BM558889 AK057449 AK129579 BQ929017 AA364182 CD676609 BU727190 
    F33589 CD671540 CD107235 BC009189 CD671541 BM665656 AI056888 BM850820 
    AK094976 BQ026764 AI357370 BM668365 BE908146 BU957352 BQ228787 F30016 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA13    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
    SP1:                                -     -                                 
    SP2:                    -           -     -                                 
    SP3:                                                                        
    SP4:                    -                                                   


    ECgene alternative splicing isoforms for NDUFA13

    (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)
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    NDUFA13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTACACGT
    NDUFA13 Expression
    About this image


    NDUFA13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Kidney (Urinary System)
             Metanephros
    NDUFA13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFA13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534453

    UniProtKB/Swiss-Prot: NDUAD_HUMAN, Q9P0J0
    Tissue specificity: Widely expressed, with highest expression in heart, skeletal muscle, liver, kidney and
    placenta. In intestinal mucosa, down-regulated in areas involved in Crohn disease and ulcerative colitis

        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFA13: 
              Apoptosis 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA13

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NDUFA13 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufa131 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 81.25(n)1
    83.33(a)1
      8 (34.03 cM)5
    671841  NM_023312.21  NP_075801.11 
     698941885 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    59(a)
    1 → many
    AADN03019066.1(505-1005)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC757172 cell death-regulatory protein GRIM19 73.94(n)    BC059742.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc731072 hypothetical protein MGC73107 76.78(n)   393687  BC059474.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG34466
    --
    31(a)
    1 → many
    X(6243356-6244432)
    worm
    (Caenorhabditis elegans)
    Secernentea C34B2.86
    Protein C34B2.8 (C34B2.8) mRNA, complete cds
    27(a)
    1 → many
    I(10685822-10687058) WBGene00016393
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MEE41 MEE4 47.29(n)
    44.44(a)
      839465  NM_100342.4  NP_171957.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g01924001 Os03g0192400 50.7(n)
    44.54(a)
      4331914  NM_001055774.1  NP_001049239.1 


    ENSEMBL Gene Tree for NDUFA13 (if available)
    TreeFam Gene Tree for NDUFA13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NDUFA13 gene
    ENSG000002586742  
    1 SIMAP similar gene for NDUFA13 using alignment to 7 protein entries:     NDUAD_HUMAN (see all proteins):
    YJEFN3

    NDUFA13 for paralogs           About GeneDecksing



    (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

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    Selected SNPs for NDUFA13 (see all 328)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0459844
    A Hurthle cell variant of papillary carcinoma sample4--see VAR_0459842 K N mis40--------
    VAR_0459854
    A Hurthle cell variant of papillary carcinoma sample4--see VAR_0459852 R P mis40--------
    rs735321451,2
    C,F--19559290(+) GGGAAG/AAAAGG 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1414615121,2
    --19559307(+) AGCGGA/GAGGGA 1 -- us2k10--------
    rs1437779711,2
    C--19559351(+) GCATAG/TTCCCT 1 -- us2k10--------
    rs72508931,2
    C,F,A,H--19559565(+) TCGGGA/GTAGAG 1 -- us2k116Minor allele frequency- G:0.44NA CSA WA EA EU 5350
    rs758460211,2
    C--19559570(+) ATAGAG/CCACGC 1 -- us2k11Minor allele frequency- C:0.00NA 4276
    rs1863475051,2
    C--19559580(+) CCGCGC/TTTCTG 1 -- us2k10--------
    rs769029001,2
    C--19559602(+) GGCCGA/GCGATG 1 -- us2k10--------
    rs593545421,2
    C,F--19559610(+) ATGTCC/TGAGTC 1 -- us2k12Minor allele frequency- T:0.01WA NA 4548

    HapMap Linkage Disequilibrium report for NDUFA13 (19626545 - 19644285 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NDUFA13:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509723CNV Insertion20534489
    dgv3789n71CNV Loss21882294
    nsv911305CNV Loss21882294

    Human Gene Mutation Database (HGMD): NDUFA13
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFA13
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFA13

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609435   
    OMIM disorders: 607464  
    UniProtKB/Swiss-Prot: NDUAD_HUMAN, Q9P0J0
  • Hurthle cell thyroid carcinoma (HCTC) [MIM:607464]: A rare type of thyroid cancer accounting for only
    about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular
    carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type. Note=Disease susceptibility
    is associated with variations affecting the gene represented in this entry

  • Selected diseases for NDUFA13 (see all 26):    
    About MalaCards
    thyroid hurthle cell carcinoma    kidney cancer    follicular thyroid carcinoma    lung adenocarcinoma
    crohn's disease    kaposi's sarcoma    ulcerative colitis    thyroid cancer
    huntington's disease    fatty liver disease    cervical cancer    thyroiditis
    parkinson's disease    sarcoma    cervicitis    ischemia
    lung cancer    liver disease    cerebritis    alzheimer's disease


    NDUFA13 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for NDUFA13 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 12163600 (1)

    Genetic Association Database (GAD): NDUFA13
    Human Genome Epidemiology (HuGE) Navigator: NDUFA13 (1 document)

    Export disorders for NDUFA13 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

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    PubMed articles for NDUFA13 gene, integrated from 10 sources (see all 67):
    (articles sorted by number of sources associating them with NDUFA13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of GRIM-19, a novel cell death-regulatory gene induced by the interferon-beta and retinoic acid combination, using a genetic approach. (PubMed id 10924506)1, 2, 3, 9 Angell J.E....Kalvakolanu D.V. (J. Biol. Chem. 2000)
    2. GRIM-19, a cell death regulatory protein, is essential for assembly and function of mitochondrial complex I. (PubMed id 15367666)1, 2, 3 Huang G.... Cao X. (Mol. Cell. Biol. 2004)
    3. Viral interferon regulatory factor 1 of Kaposi's sarcoma-associated herpesvirus interacts with a cell death regulator, GRIM19, and inhibits interferon/retinoic acid-induced cell death. (PubMed id 12163600)1, 2, 9 Seo T.... Choe J. (J. Virol. 2002)
    4. 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)
    5. GRIM-19 interacts with nucleotide oligomerization domain 2 and serves as downstream effector of anti-bacterial function in intestinal epithelial cells. (PubMed id 15753091)1, 2 Barnich N....Podolsky D.K. (J. Biol. Chem. 2005)
    6. 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)
    7. The cell death regulator GRIM-19 is an inhibitor of signal transducer and activator of transcription 3. (PubMed id 12867595)1, 2 Zhang J.... Kalvakolanu D.V. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    8. The nuclear encoded subunits of complex I from bovine heart mitochondria. (PubMed id 12837546)1, 3 Hirst J....Walker J.E. (Biochim. Biophys. Acta 2003)
    9. GRIM-19, a death-regulatory gene product, suppresses Stat3 activity via functional interaction. (PubMed id 12628925)1, 2 Lufei C....Cao X. (EMBO J. 2003)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 51079 HGNC: 17194 AceView: GRIM19andFLJ44968 Ensembl:ENSG00000186010 euGenes: HUgn51079
    ECgene: NDUFA13 Kegg: 51079 H-InvDB: NDUFA13

    (According to HUGE)
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      --

    (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

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    NameDescription
    PharmGKB entry for NDUFA13 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for NDUFA13 gene:
    Search GeneIP for patents involving NDUFA13

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



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