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Aliases for NDUFA13 Gene

Aliases for NDUFA13 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A13 2 3 5
  • Gene Associated With Retinoic And Interferon-Induced Mortality 19 Protein 3 4
  • Gene Associated With Retinoic And IFN-Induced Mortality 19 Protein 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 13 2 3
  • NADH-Ubiquinone Oxidoreductase B16.6 Subunit 3 4
  • Cell Death Regulatory Protein GRIM-19 3 4
  • Complex I B16.6 Subunit 2 3
  • Complex I-B16.6 3 4
  • CI-B16.6 3 4
  • GRIM-19 3 4
  • GRIM19 3 4
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 13 3
  • Cell Death-Regulatory Protein GRIM19 3
  • CDA016 3
  • CGI-39 3
  • B16.6 3

External Ids for NDUFA13 Gene

Previous GeneCards Identifiers for NDUFA13 Gene

  • GC19P019488
  • GC19P019626
  • GC19P019189

Summaries for NDUFA13 Gene

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:Ubiquinone Oxidoreductase Subunit A13) is a Protein Coding gene. Diseases associated with NDUFA13 include Thyroid Carcinoma, Hurthle Cell and Differentiated Thyroid Carcinoma. Among its related pathways are Metabolism and EGFR1 Signaling Pathway. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and NADH dehydrogenase activity. An important paralog of this gene is ENSG00000258674.

UniProtKB/Swiss-Prot for NDUFA13 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA13 Gene

Genomics for NDUFA13 Gene

Regulatory Elements for NDUFA13 Gene

Enhancers for NDUFA13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F019443 1.6 FANTOM5 Ensembl ENCODE 36.1 -67.0 -67010 10.1 HDGF PKNOX1 WRNIP1 ZNF143 ZNF263 REST TBX21 ZNF623 SMARCA4 NBN NDUFA13 GATAD2A GMIP MAU2 YJEFN3 LINC00663 RFXANK BORCS8 GC19P019436 PIR48619
GH19F019456 1.6 FANTOM5 Ensembl ENCODE 36.1 -54.6 -54628 9.8 HDGF PKNOX1 WRNIP1 GLIS2 FOS KLF7 ZNF263 SP5 JUNB REST GATAD2A NDUFA13 GMIP MIR640 MAU2 TM6SF2 RFXANK PBX4 ZNF14 ZNF506
GH19F019402 1.5 FANTOM5 ENCODE 36.1 -110.3 -110302 5.3 PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 NDUFA13 GATAD2A TM6SF2 ENSG00000269191 YJEFN3 GMIP HOMER3 RFXANK ENSG00000267234 GC19P019435
GH19F019531 1.3 Ensembl ENCODE 36.3 +16.9 16886 1.3 ATF1 PKNOX1 CREB3L1 WRNIP1 SIN3A ZNF2 ZNF48 GLIS2 ZNF143 ZNF207 NDUFA13 GATAD2A ZNF506 ZNF14 YJEFN3 GC19M019535
GH19F019366 1.3 Ensembl ENCODE 36 -148.9 -148855 1.4 HDGF ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 NDUFA13 GATAD2A LPAR2 GC19P019358 PIR49867 GC19P019382
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFA13 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFA13 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001816696 -436 201 ZBTB33 MLLT1
ENSR00001418394 764 1801 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 ZNF263
ENSR00001816695 -1336 401 MAX ZBTB33

Genomic Location for NDUFA13 Gene

Chromosome:
19
Start:
19,515,736 bp from pter
End:
19,529,054 bp from pter
Size:
13,319 bases
Orientation:
Plus strand

Genomic View for NDUFA13 Gene

Genes around NDUFA13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA13 Gene

Proteins for NDUFA13 Gene

  • Protein details for NDUFA13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0J0-NDUAD_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
    Protein Accession:
    Q9P0J0
    Secondary Accessions:
    • B4DF76
    • K7EK58
    • Q6PKI0
    • Q9H2L3
    • Q9Y327

    Protein attributes for NDUFA13 Gene

    Size:
    144 amino acids
    Molecular mass:
    16698 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAD27748.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAG44670.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH00589.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NDUFA13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFA13 Gene

Post-translational modifications for NDUFA13 Gene

  • Ubiquitination at Lys 22, Lys 99, and Lys 105
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA13 Gene

Antibody Products

No data available for DME Specific Peptides for NDUFA13 Gene

Domains & Families for NDUFA13 Gene

Protein Domains for NDUFA13 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P0J0

UniProtKB/Swiss-Prot:

NDUAD_HUMAN :
  • Belongs to the complex I NDUFA13 subunit family.
Family:
  • Belongs to the complex I NDUFA13 subunit family.
genes like me logo Genes that share domains with NDUFA13: view

Function for NDUFA13 Gene

Molecular function for NDUFA13 Gene

UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. 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.
UniProtKB/Swiss-Prot Induction:
By IFNB1/IFN-beta combined with all-trans-retinoic acid (ATRA).

Gene Ontology (GO) - Molecular Function for NDUFA13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003954 NADH dehydrogenase activity IMP 16826196
GO:0005515 protein binding IPI 12867595
GO:0005524 ATP binding NAS 10924506
GO:0008137 NADH dehydrogenase (ubiquinone) activity IDA 12611891
genes like me logo Genes that share ontologies with NDUFA13: view
genes like me logo Genes that share phenotypes with NDUFA13: view

Human Phenotype Ontology for NDUFA13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFA13 Gene

MGI Knock Outs for NDUFA13:

Animal Model Products

miRNA for NDUFA13 Gene

miRTarBase miRNAs that target NDUFA13

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NDUFA13 Gene

Localization for NDUFA13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA13 Gene

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFA13 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for NDUFA13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA 10924506
GO:0005737 cytoplasm IDA 10924506
GO:0005739 mitochondrion IEA,IDA 12611891
GO:0005743 mitochondrial inner membrane TAS --
genes like me logo Genes that share ontologies with NDUFA13: view

Pathways & Interactions for NDUFA13 Gene

genes like me logo Genes that share pathways with NDUFA13: view

Gene Ontology (GO) - Biological Process for NDUFA13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0006915 apoptotic process IEA --
GO:0010952 positive regulation of peptidase activity IC 17297443
GO:0030308 negative regulation of cell growth IMP 16826196
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
genes like me logo Genes that share ontologies with NDUFA13: view

No data available for SIGNOR curated interactions for NDUFA13 Gene

Drugs & Compounds for NDUFA13 Gene

(5) Drugs for NDUFA13 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(4) Additional Compounds for NDUFA13 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
genes like me logo Genes that share compounds with NDUFA13: view

Transcripts for NDUFA13 Gene

Unigene Clusters for NDUFA13 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA13 Gene

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

Relevant External Links for NDUFA13 Gene

GeneLoc Exon Structure for
NDUFA13
ECgene alternative splicing isoforms for
NDUFA13

Expression for NDUFA13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFA13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFA13 Gene

This gene is overexpressed in Nasal epithelium (18.4) and Heart (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NDUFA13 Gene



Protein tissue co-expression partners for NDUFA13 Gene

NURSA nuclear receptor signaling pathways regulating expression of NDUFA13 Gene:

NDUFA13

SOURCE GeneReport for Unigene cluster for NDUFA13 Gene:

Hs.534453

mRNA Expression by UniProt/SwissProt for NDUFA13 Gene:

Q9P0J0-NDUAD_HUMAN
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.
genes like me logo Genes that share expression patterns with NDUFA13: view

Primer Products

No data available for mRNA differential expression in normal tissues for NDUFA13 Gene

Orthologs for NDUFA13 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFA13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFA13 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia NDUFA13 34
  • 85.19 (n)
cow
(Bos Taurus)
Mammalia NDUFA13 34
  • 83.56 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ndufa13 34 16 35
  • 81.25 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911483 34
  • 80.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa13 34
  • 64.12 (n)
MGC75717 34
zebrafish
(Danio rerio)
Actinopterygii ndufa13 34
  • 70.83 (n)
zgc73107 34
fruit fly
(Drosophila melanogaster)
Insecta CG3446 35
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C34B2.8 35
  • 27 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MEE4 34
  • 47.29 (n)
rice
(Oryza sativa)
Liliopsida Os03g0192400 34
  • 50.7 (n)
Species where no ortholog for NDUFA13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFA13 Gene

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

Paralogs for NDUFA13 Gene

Paralogs for NDUFA13 Gene

(1) SIMAP similar genes for NDUFA13 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with NDUFA13: view

Variants for NDUFA13 Gene

Sequence variations from dbSNP and Humsavar for NDUFA13 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs137852869 A Hurthle cell variant of papillary carcinoma sample, Pathogenic 19,516,253(+) TCAAA(C/G)GTGAA upstream-variant-2KB, reference, missense
VAR_045985 A Hurthle cell variant of papillary carcinoma sample
rs752513525 Pathogenic 19,526,257(+) TGAGC(A/G)CAGGT reference, missense
rs10403458 -- 19,519,064(+) ttttg(G/T)atttt intron-variant
rs10409927 -- 19,520,377(+) ctgta(A/G)tctca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFA13 Gene

Variant ID Type Subtype PubMed ID
nsv952426 CNV deletion 24416366
nsv509723 CNV insertion 20534489
nsv1134766 CNV deletion 24896259

Variation tolerance for NDUFA13 Gene

Residual Variation Intolerance Score: 60.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFA13 Gene

Human Gene Mutation Database (HGMD)
NDUFA13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA13 Gene

Disorders for NDUFA13 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NDUFA13 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thyroid carcinoma, hurthle cell
  • thyroid hurthle cell carcinoma
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
crohn's disease
  • crohn disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUAD_HUMAN
  • 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. {ECO:0000269 PubMed:15841082}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for NDUFA13

Genetic Association Database (GAD)
NDUFA13
Human Genome Epidemiology (HuGE) Navigator
NDUFA13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFA13
genes like me logo Genes that share disorders with NDUFA13: view

No data available for Genatlas for NDUFA13 Gene

Publications for NDUFA13 Gene

  1. Identification of GRIM-19, a novel cell death-regulatory gene induced by the interferon-beta and retinoic acid combination, using a genetic approach. (PMID: 10924506) Angell J.E. … Kalvakolanu D.V. (J. Biol. Chem. 2000) 2 3 4 22 64
  2. GRIM-19, a cell death regulatory protein, is essential for assembly and function of mitochondrial complex I. (PMID: 15367666) Huang G. … Cao X. (Mol. Cell. Biol. 2004) 2 3 4 64
  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. (PMID: 12163600) Seo T. … Choe J. (J. Virol. 2002) 3 4 22 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Coupling mitochondrial respiratory chain to cell death: an essential role of mitochondrial complex I in the interferon-beta and retinoic acid-induced cancer cell death. (PMID: 16826196) Huang G. … Cao X. (Cell Death Differ. 2007) 3 22 64

Products for NDUFA13 Gene

Sources for NDUFA13 Gene

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