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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NDUFA13 Gene

protein-coding   GIFtS: 54
GCID: GC19P019626

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
 Explore 20 diseases affiliated with
NDUFA13 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NDUFA13    

Aliases
for NDUFA13 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 131 2     Gene Associated With Retinoic And Interferon-Induced Mortality 19 Protein2 3
GRIM191 2 3 5     CI-B16.62 3
GRIM-191 2 3     NADH-Ubiquinone Oxidoreductase B16.6 Subunit2 3
B16.61 2     CGI-391
CDA0161 2     Cell Death-Regulatory Protein GRIM192
Cell Death Regulatory Protein GRIM-192 3     Complex I B16.6 Subunit2
Complex I-B16.62 3     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 132
Gene Associated With Retinoic And IFN-Induced Mortality 19 Protein2 3     

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


Summaries
for NDUFA13 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NDUFA13:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NDUFA13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NDUFA13 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein; Matrix side. Nucleus. Note=May be
translocated into the nucleus upon IFN/RA treatment
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P0J0

    • NDUFA13 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057049.5  
    ENSEMBL proteins: 
     ENSP00000467274   ENSP00000423673   ENSP00000468317   ENSP00000465129   ENSP00000252576  
     ENSP00000465471  
    Reactome Protein details: Q9P0J0
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm IDA10924506
    GO:0005737cytoplasm IDA10924506
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005746mitochondrial respiratory chain IDA12611891


    NDUFA13 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for NDUFA13 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NDUFA13 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009346 GRIM-19

    Graphical View of Domain Structure for InterPro Entry Q9P0J0

    ProtoNet protein and cluster: Q9P0J0

    1 Blocks protein family: IPB009346 GRIM-19

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


    Function
    for NDUFA13 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Induction: By IFNB1/IFN-beta combined with all-trans-retinoic acid (ATRA)

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    Gene Editing
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003954NADH dehydrogenase activity IMP16826196
    GO:0005515protein binding IPI17297443
    GO:0005524ATP binding NAS10924506
    GO:0008137NADH dehydrogenase (ubiquinone) activity IDA12611891


    NDUFA13 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Ndufa13tm1Xc for NDUFA13
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ndufa13):
     cellular  embryogenesis  growth/size  mortality/aging 

    NDUFA13 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NDUFA13 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    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.1.00
    		Parkinson's disease0.61
    		Respiratory electron transport0.81
    		Alzheimer's disease0.43
    		The citric acid (TCA) cycle and respiratory electron transport0.72
    		Huntington's disease0.40
    		Oxidative phosphorylation0.63
    2EGFR1 Signaling Pathway
    		EGFR1 Signaling Pathway1.00
    3Metabolism
    		Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for NDUFA13 
        EGFR1 Signaling Pathway

    4        Reactome Pathways for NDUFA13
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport


    4         Kegg Pathways  (Kegg details for NDUFA13):
        Oxidative phosphorylation
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    NDUFA13 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NDUFA13

    5/11 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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006606protein import into nucleus NAS10924506
    GO:0006917induction of apoptosis IMP16826196
    GO:0017148negative regulation of translation IDA12867595
    GO:0022904respiratory electron transport chain TAS--
    GO:0030262apoptotic nuclear changes IDA10924506


    NDUFA13 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NDUFA13 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NDUFA13 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NDUFA13

    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 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)

    Search CenterWatch for drugs/clinical trials and news about NDUFA13 / NDUAD 

    Transcripts
    for NDUFA13 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000502506 ENST00000507754 ENST00000503283 ENST00000511584 ENST00000428459
    ENST00000511180 ENST00000252576(uc021uqu.1) ENST00000512771

    miRNA
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    Additional cDNA 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 

    24/469 AceView cDNA sequences (see all 469):

    AI311010 BU508729 F27361 BX282632 AW246699 BQ877030 BM699888 AA375762 
    BU956921 BM921707 BQ687703 BQ685844 CB530047 BM661998 BM839920 BM797483 
    CB155813 BC000589 BM693008 AA366998 CB155423 BQ052522 AW006149 BX097402 

    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

    Expression
    for NDUFA13 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NDUFA13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGTACACGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See NDUFA13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFA13

    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

        SABiosciences Expression via Pathway-Focused PCR Array including NDUFA13: 
              Apoptosis 384HT in human mouse rat

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    In Situ
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    Orthologs
    for NDUFA13 gene

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

    Orthologs for NDUFA13 gene from 7/21 species (see all 21)    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 
    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 ↔ 1
    		 X(6243356-6244432)
    worm
    (Caenorhabditis elegans)    		 Secernentea C34B2.86
    		 Protein C34B2.8
    		 28(a)
    		 1 ↔ 1
    		 I(10685811-10687047)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons MEE41 GRIM-19 protein 47.29(n)
    44.44(a)    		   839465  NM_100342.4  NP_171957.2 
    rice
    (Oryza sativa)    		 Liliopsida Os03g01924001 hypothetical protein 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
    for NDUFA13 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NDUFA13 gene
    ENSG000002586742  
    1 SIMAP similar gene for NDUFA13 using alignment to 6 protein entries:     NDUAD_HUMAN (see all proteins):
    YJEFN3

    NDUFA13 for paralogs           About GeneDecksing



    Genomic Variants
    for NDUFA13 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/219 NCBI SNPs in NDUFA13 are shown (see all 219)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs735321451,2
    		C,F,--19625272(+) GGGAAG/AAAAGG 2 -- us2k1 ut311Minor allele frequency- A:0.03WA 118
    rs1414615121,2
    		--19625289(+) AGCGGA/GAGGGA 2 -- us2k1 ut310--------
    rs1437779711,2
    		--19625333(+) GCATAG/TTCCCT 2 -- us2k1 ut310--------
    rs1818560531,2
    		--19626536(+) GAGGCC/TACTAG 2 -- us2k10--------
    rs747666621,2
    		C--19626711(+) GCCTTA/TACTGG 2 -- us2k10--------
    rs800070811,2
    		C,F,--19626734(+) CTTTGA/GGAGCT 2 -- us2k14Minor allele frequency- G:0.18NA CSA WA 242
    rs176841641,2
    		C,F,H,--19626769(+) ACACCC/TCAGAG 2 -- us2k112Minor allele frequency- T:0.15NA NS EA CSA WA EU 1347
    rs772543261,2
    		C,F,--19626781(+) NNNNGT/GGAACG 2 -- us2k14Minor allele frequency- G:0.17CSA WA NA EU 830
    rs1869291281,2
    		--19626861(+) CAGCTA/GCAGCC 2 -- us2k10--------
    rs1458407911,2
    		F--19626901(+) GCCAGA/GGCTTT 2 -- us2k11Minor allele frequency- G:0.00NA 4524

    HapMap Linkage Disequilibrium report for NDUFA13 (19626545 - 19644285 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NDUFA13: --
    Human Gene Mutation Database (HGMD): NDUFA13

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for NDUFA13 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NDUFA13 for disorders           About GeneDecksing

    OMIM gene information: 609435   
    OMIM disorders: 607464  
    UniProtKB/Swiss-Prot: NDUAD_HUMAN, Q9P0J0
  • Defects in NDUFA13 may be a cause of susceptibility to Hurthle cell thyroid carcinoma (HCTC) [MIM:607464].
    • Hurthle cell thyroid carcinoma accounts for approximately 3% of all thyroid cancers. Although they are classified as
    variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to
    take up iodine than are other follicular neoplasms

    20 diseases for NDUFA13:    About MalaCards
    ulcerative colitis    kaposi's sarcoma    thyroid carcinoma    huntington's disease
    crohn's disease    thyroiditis    parkinson's disease    kidney cancer
    lung adenocarcinoma    sarcoma    cervical cancer    cervicitis
    thyroid cancer    gastric cancer    lung cancer    adenocarcinoma
    ischemia    carcinoma    cerebritis    prostatitis

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: NDUFA13 (1 document)

    Export disorders for NDUFA13 gene to outside databases

    Publications
    for NDUFA13 gene

    (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

    PubMed articles for NDUFA13 gene, integrated from 9 sources (see all 58):
    (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. (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. (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. (2002)
    4. 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. (2005)
    5. 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. (2004)
    6. GRIM-19, a death-regulatory gene product, suppresses Stat3 activity via functional interaction. (PubMed id 12628925)1, 2 Lufei C....Cao X. (2003)
    7. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (2003)
    8. 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. (2003)
    9. The nuclear encoded subunits of complex I from bovine heart mitochondria. (PubMed id 12837546)1, 3 Hirst J....Walker J.E. (2003)
    10. 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. (2000)

    External Searches for NDUFA13 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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    Genome Databases showing NDUFA13 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51079 HGNC: 17194 AceView: GRIM19andFLJ44968 Ensembl:ENSG00000186010 euGenes: HUgn51079
    ECgene: NDUFA13 Kegg: 51079 H-InvDB: NDUFA13

    Other Databases showing NDUFA13 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NDUFA13 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NDUFA13 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NDUFA13 gene

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