Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NDUFAF3 Gene

Aliases for NDUFAF3 Gene

  • NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 3 2 3 5
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 3 2 3
  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 3 2 3
  • C3orf60 3 4
  • Chromosome 3 Open Reading Frame 60 2
  • Nuclear Protein E3-3 3
  • E3-3 3
  • 2P1 3

External Ids for NDUFAF3 Gene

Previous HGNC Symbols for NDUFAF3 Gene

  • C3orf60

Previous GeneCards Identifiers for NDUFAF3 Gene

  • GC03P049034
  • GC03P049057

Summaries for NDUFAF3 Gene

Entrez Gene Summary for NDUFAF3 Gene

  • This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]

GeneCards Summary for NDUFAF3 Gene

NDUFAF3 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 3) is a Protein Coding gene. Diseases associated with NDUFAF3 include Mitochondrial Complex I Deficiency and Paralytic Poliomyelitis. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism.

UniProtKB/Swiss-Prot for NDUFAF3 Gene

  • Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).

Gene Wiki entry for NDUFAF3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFAF3 Gene

Genomics for NDUFAF3 Gene

Regulatory Elements for NDUFAF3 Gene

Enhancers for NDUFAF3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NDUFAF3 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFAF3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFAF3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the NDUFAF3 gene promoter:

Genomic Location for NDUFAF3 Gene

Chromosome:
3
Start:
49,020,459 bp from pter
End:
49,023,495 bp from pter
Size:
3,037 bases
Orientation:
Plus strand

Genomic View for NDUFAF3 Gene

Genes around NDUFAF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFAF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFAF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAF3 Gene

Proteins for NDUFAF3 Gene

  • Protein details for NDUFAF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BU61-NDUF3_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
    Protein Accession:
    Q9BU61

    Protein attributes for NDUFAF3 Gene

    Size:
    184 amino acids
    Molecular mass:
    20350 Da
    Quaternary structure:
    • Interacts with NDUFAF4, NDUFS2 and NDUFS3.

    Alternative splice isoforms for NDUFAF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFAF3 Gene

Proteomics data for NDUFAF3 Gene at MOPED

Post-translational modifications for NDUFAF3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFAF3 Gene

No data available for DME Specific Peptides for NDUFAF3 Gene

Domains & Families for NDUFAF3 Gene

Protein Domains for NDUFAF3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFAF3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NDUFAF3: view

No data available for UniProtKB/Swiss-Prot for NDUFAF3 Gene

Function for NDUFAF3 Gene

Molecular function for NDUFAF3 Gene

UniProtKB/Swiss-Prot Function:
Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).
genes like me logo Genes that share phenotypes with NDUFAF3: view

Human Phenotype Ontology for NDUFAF3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFAF3 Gene

Localization for NDUFAF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFAF3 Gene

Nucleus. Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFAF3 Gene COMPARTMENTS Subcellular localization image for NDUFAF3 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for NDUFAF3 Gene

Pathways & Interactions for NDUFAF3 Gene

genes like me logo Genes that share pathways with NDUFAF3: view

Gene Ontology (GO) - Biological Process for NDUFAF3 Gene

None

No data available for SIGNOR curated interactions for NDUFAF3 Gene

Drugs & Compounds for NDUFAF3 Gene

No Compound Related Data Available

Transcripts for NDUFAF3 Gene

Unigene Clusters for NDUFAF3 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c
SP1: - - - - -
SP2: - - - -
SP3:
SP4:
SP5: -
SP6:

Relevant External Links for NDUFAF3 Gene

GeneLoc Exon Structure for
NDUFAF3
ECgene alternative splicing isoforms for
NDUFAF3

Expression for NDUFAF3 Gene

mRNA expression in normal human tissues for NDUFAF3 Gene

mRNA differential expression in normal tissues according to GTEx for NDUFAF3 Gene

This gene is overexpressed in Testis (x4.2).

Protein differential expression in normal tissues from HIPED for NDUFAF3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFAF3 Gene



SOURCE GeneReport for Unigene cluster for NDUFAF3 Gene Hs.31387

genes like me logo Genes that share expression patterns with NDUFAF3: view

Protein tissue co-expression partners for NDUFAF3 Gene

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for NDUFAF3 Gene

Orthologs for NDUFAF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFAF3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFAF3 35
  • 85.14 (n)
  • 85.87 (a)
NDUFAF3 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFAF3 35
  • 84.6 (n)
  • 83.7 (a)
NDUFAF3 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufaf3 35
  • 79.17 (n)
  • 80.43 (a)
Ndufaf3 16
Ndufaf3 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF3 35
  • 99.82 (n)
  • 99.46 (a)
NDUFAF3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufaf3 35
  • 77.36 (n)
  • 79.89 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF3 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAF3 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFAF3 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf3 35
  • 63.17 (n)
  • 62.94 (a)
Str.15760 35
zebrafish
(Danio rerio)
Actinopterygii ndufaf3 35
  • 64.6 (n)
  • 63.45 (a)
ndufaf3 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003819 35
  • 52.49 (n)
  • 44.88 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5569 35
  • 52.49 (n)
  • 41.73 (a)
CG5569 36
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nuaf-3 35
  • 46.43 (n)
  • 40.71 (a)
nuaf-3 36
  • 20 (a)
OneToOne
Species with no ortholog for NDUFAF3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFAF3 Gene

ENSEMBL:
Gene Tree for NDUFAF3 (if available)
TreeFam:
Gene Tree for NDUFAF3 (if available)

Paralogs for NDUFAF3 Gene

(2) SIMAP similar genes for NDUFAF3 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for NDUFAF3 Gene

genes like me logo Genes that share paralogs with NDUFAF3: view

No data available for Paralogs for NDUFAF3 Gene

Variants for NDUFAF3 Gene

Sequence variations from dbSNP and Humsavar for NDUFAF3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_058491 Mitochondrial complex I deficiency (MT-C1D)
VAR_058492 Mitochondrial complex I deficiency (MT-C1D)
rs13085163 -- 49,023,642(+) tagag(A/G)cccct downstream-variant-500B
rs149913973 -- 49,023,747(+) TGCAA(A/C)CTCCG downstream-variant-500B
rs528027440 -- 49,023,730(+) GCGCA(C/G)TCTCA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for NDUFAF3 Gene

Variant ID Type Subtype PubMed ID
nsv876764 CNV Loss 21882294

Variation tolerance for NDUFAF3 Gene

Residual Variation Intolerance Score: 30% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.43; 54.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFAF3 Gene

Human Gene Mutation Database (HGMD)
NDUFAF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFAF3 Gene

Disorders for NDUFAF3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NDUFAF3 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
paralytic poliomyelitis
  • poliomyelitis, paralytic
leukocoria
  • leucocoria
kabuki syndrome 1
  • kabuki syndrome
leber hereditary optic neuropathy
  • leber optic atrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUF3_HUMAN
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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. {ECO:0000269 PubMed:19463981}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDUFAF3

Genetic Association Database (GAD)
NDUFAF3
Human Genome Epidemiology (HuGE) Navigator
NDUFAF3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFAF3
genes like me logo Genes that share disorders with NDUFAF3: view

No data available for Genatlas for NDUFAF3 Gene

Publications for NDUFAF3 Gene

  1. 2P1, a novel male mouse cDNA specifically expressed during meiosis. (PMID: 12653254) Hammami-Hamza S. … Finaz C. (Int. J. Dev. Biol. 2003) 2 3 23 67
  2. Molecular cloning of a novel alternatively spliced nuclear protein. (PMID: 9349717) Hartmann A.M. … Stamm S. (Biochim. Biophys. Acta 1997) 2 3
  3. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. LGALS3BP regulates centriole biogenesis and centrosome hypertrophy in cancer cells. (PMID: 23443559) Fogeron M.L. … Lange B.M. (Nat Commun 2013) 3

Products for NDUFAF3 Gene

Sources for NDUFAF3 Gene

Content