NDUFA13 Gene (Protein Coding)

NADH:Ubiquinone Oxidoreductase Subunit A13

GC19P019515
GIFtS:
45
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... See more...

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 Subunit 13 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
  • Cell Death-Regulatory Protein GRIM19 3
  • MC1DN28 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 Mitochondrial Complex I Deficiency, Nuclear Type 28 and Thyroid Carcinoma, Hurthle Cell. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and NADH dehydrogenase activity.

UniProtKB/Swiss-Prot Summary for NDUFA13 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). 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 (PubMed:27626371). 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 (PubMed:15753091).

Gene Wiki entry for NDUFA13 Gene

Additional gene information for NDUFA13 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFA13 Gene

Genomics for NDUFA13 Gene

GeneHancer (GH) Regulatory Elements for NDUFA13 Gene

Promoters and enhancers for NDUFA13 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J019515 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 786.6 +0.7 665 2.4 E2F8 ZBTB40 SIX5 SMARCE1 POLR2A ATF1 CREB1 HCFC1 MIXL1 MYC NDUFA13 ENSG00000258674 NONHSAG025185.2 TSSK6 piR-56535 ENSG00000268030 NR2C2AP MAU2 ZNF90 UPF1
GH19J019516 Promoter/Enhancer 1 Ensembl ENCODE CraniofacialAtlas 750.6 -1.3 -1339 0.8 MAX ZBTB33 ENSG00000258674 NONHSAG025185.2 NDUFA13 TSSK6 piR-56535 GATAD2A lnc-TSSK6-2
GH19J019517 Enhancer 0.3 ENCODE 750.6 -0.8 -826 0.1 MLLT1 ZBTB33 ENSG00000258674 NONHSAG025185.2 NDUFA13 TSSK6 piR-56535 lnc-TSSK6-2
GH19J019528 Promoter 0.3 EPDnew 750.4 +12.3 12304 0.1 YJEFN3 NDUFA13 lnc-YJEFN3-2 ENSG00000258674 NONHSAG025185.2
GH19J019402 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 36.1 -110.3 -110302 5.3 ZNF785 ZBTB40 SP1 CTCF MLX RBPJ SMARCE1 POLR2A NR2F1 MIXL1 lnc-MAU2-1 GATAD2A NDUFA13 NR2C2AP ZNF101 TMEM161A ENSG00000268030 TM6SF2 ZNF90 ZNF682
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFA13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NDUFA13 gene promoter:
  • ER-alpha
  • Pax-2
  • Pax-2a
  • PPAR-gamma2
  • RORalpha2
  • STAT1
  • STAT3

Genomic Locations for NDUFA13 Gene

Genomic Locations for NDUFA13 Gene
chr19:19,515,736-19,529,054
(GRCh38/hg38)
Size:
13,319 bases
Orientation:
Plus strand
chr19:19,626,545-19,644,285
(GRCh37/hg19)
Size:
17,741 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 Structure • Gene Density

RefSeq DNA sequence for NDUFA13 Gene

Proteins for NDUFA13 Gene

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  • 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 (PubMed:27626371). Interacts with CARD15, but not with CARD4 (PubMed:12611891, PubMed:15753091). Interacts with STAT3, but not with STAT1, STAT2 and STAT5A (PubMed:12628925, PubMed:12867595). Interacts with OLFM4 (PubMed:15059901).
    • (Microbial infection) Interacts with HHV-8 IRF1, in the nucleus, with HPV-16 E6 and SV40 LT (PubMed:12163600).
    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};

    Three dimensional structures from OCA and Proteopedia for NDUFA13 Gene

    Alternative splice isoforms for NDUFA13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFA13 Gene

Protein Expression for NDUFA13 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NDUFA13 Gene

  • Ubiquitination at Lys22, Lys99, and Lys105
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFA13 Gene

Domains & Families for NDUFA13 Gene

Gene Families for NDUFA13 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for NDUFA13 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA13 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase B16.6 subunit (NDUAD_HUMAN)

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

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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 (PubMed:27626371). 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 (PubMed:27626371). 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 (PubMed:15753091).
UniProtKB/Swiss-Prot Induction:
By IFNB1/IFN-beta combined with all-trans-retinoic acid (ATRA).

Phenotypes From GWAS Catalog for NDUFA13 Gene

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,IBA 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

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miRNA for NDUFA13 Gene

miRTarBase miRNAs that target NDUFA13

Clone 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=Localizes mainly in the mitochondrion (PubMed:12628925). May be translocated into the nucleus upon IFN/RA treatment. {ECO:0000269 PubMed:12628925, ECO:0000269 PubMed:15059901}.

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
mitochondrion 5
nucleus 5
cytosol 2
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
See all subcellular structures

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 IDA,IEA 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

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  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Iron Approved, Experimental Pharma 1452
NAD Experimental Pharma Full agonist, Agonist, Activator 0
Ubiquinone-1 Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
 56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
 18496-25-8
genes like me logo Genes that share compounds with NDUFA13: view

Transcripts for NDUFA13 Gene

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  1. CRISPR
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mRNA/cDNA for NDUFA13 Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(469) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

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  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for NDUFA13 Gene
mRNA expression by BioGPS 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 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.

Evidence on tissue expression from TISSUES for NDUFA13 Gene

  • Nervous system(4.8)
  • Adrenal gland(4.4)
  • Skin(4.3)
  • Lung(2.8)
  • Heart(2.7)
  • Liver(2.6)
  • Kidney(2.4)
  • Thyroid gland(2.4)
  • Muscle(2.3)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA13 Gene

Germ Layers:
  • endoderm
Systems:
  • endocrine
Regions:
Head and neck:
  • neck
  • thyroid
genes like me logo Genes that share expression patterns with NDUFA13: view

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 33 32
  • 100 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia NDUFA13 32
  • 85.19 (n)
cow
(Bos Taurus)
 Mammalia NDUFA13 32
  • 83.56 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 33
  • 82 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Ndufa13 17 33 32
  • 81.25 (n)
rat
(Rattus norvegicus)
 Mammalia LOC100911483 32
  • 80.79 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 33
  • 62 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves -- 33
  • 59 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia ndufa13 32
  • 64.12 (n)
MGC75717 32
zebrafish
(Danio rerio)
 Actinopterygii ndufa13 32
  • 70.83 (n)
zgc73107 32
fruit fly
(Drosophila melanogaster)
 Insecta CG3446 33
  • 31 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea C34B2.8 33
  • 27 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons MEE4 32
  • 47.29 (n)
rice
(Oryza sativa)
 Liliopsida Os03g0192400 32
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFA13: view image

Paralogs for NDUFA13 Gene

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

  • NDUAD_HUMAN
  • B4DEZ3_HUMAN
  • B4DF76_HUMAN
  • J3KN00_HUMAN
  • K7EJE1_HUMAN
  • K7EP87_HUMAN
  • U3KQP3_HUMAN
genes like me logo Genes that share paralogs with NDUFA13: view

No data available for Paralogs for NDUFA13 Gene

Variants for NDUFA13 Gene

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Sequence variations from dbSNP and Humsavar for NDUFA13 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs137852869 pathogenic, Hurthle cell carcinoma of thyroid, A Hurthle cell variant of papillary carcinoma sample 19,516,253(+) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs752513525 pathogenic, Mitochondrial complex I deficiency, MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28, Mitochondrial complex I deficiency, nuclear type 28 (MC1DN28) [MIM:618249] 19,526,257(+) G/A/T coding_sequence_variant, missense_variant
VAR_045985 A Hurthle cell variant of papillary carcinoma sample p.Arg115Pro
rs183288709 uncertain-significance, not provided 19,516,283(+) C/A/T coding_sequence_variant, synonymous_variant
rs1000240763 -- 19,518,876(+) A/G intron_variant

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

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

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 28
  • mc1dn28
thyroid carcinoma, hurthle cell
  • hurthle cell thyroid neoplasia
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
- 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.
  • Mitochondrial complex I deficiency, nuclear type 28 (MC1DN28) [MIM:618249]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN28 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:25901006}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFA13

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JE … Kalvakolanu DV (The Journal of biological chemistry 2000) 2 3 4 23 56
  2. GRIM-19, a cell death regulatory protein, is essential for assembly and function of mitochondrial complex I. (PMID: 15367666) Huang G … Cao X (Molecular and cellular biology 2004) 2 3 4 56
  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 (Journal of virology 2002) 3 4 23 56
  4. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 56
  5. Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. (PMID: 25901006) Angebault C … Roubertie A (Human molecular genetics 2015) 3 4 56

ExternalLinks

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