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Aliases for NDUFAF3 Gene

Aliases for NDUFAF3 Gene

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

External Ids for NDUFAF3 Gene

Previous Symbols for NDUFAF3 Gene

  • C3orf60

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 Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 3) is a Protein Coding gene. Diseases associated with NDUFAF3 include mitochondrial complex i deficiency.

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

Genomic Location for NDUFAF3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFAF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAF3 Gene

Regulatory Elements for NDUFAF3 Gene

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

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
    Secondary Accessions:

    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

No Post-translational modifications

Other Protein References for NDUFAF3 Gene

No data available for DME Specific Peptides for NDUFAF3 Gene

Domains for NDUFAF3 Gene

Gene Families for NDUFAF3 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for NDUFAF3 Gene

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).

Gene Ontology (GO) - Molecular Function for NDUFAF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19463981
genes like me logo Genes that share ontologies with NDUFAF3: view

Phenotypes for NDUFAF3 Gene

GenomeRNAi human phenotypes for NDUFAF3:
genes like me logo Genes that share phenotypes with NDUFAF3: view

miRNA for NDUFAF3 Gene

miRTarBase miRNAs that target NDUFAF3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 4
cytosol 2

Gene Ontology (GO) - Cellular Components for NDUFAF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane IDA 19463981
genes like me logo Genes that share ontologies with NDUFAF3: view

Pathways for NDUFAF3 Gene

SuperPathways for NDUFAF3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NDUFAF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 19463981
genes like me logo Genes that share ontologies with NDUFAF3: view

No data available for Pathways by source for NDUFAF3 Gene

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 (4.2).

Integrated Proteomics: protein expression 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 expressions with NDUFAF3: view

Orthologs for NDUFAF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFAF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF3 36
  • 99.82 (n)
  • 99.46 (a)
NDUFAF3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFAF3 36
  • 85.14 (n)
  • 85.87 (a)
NDUFAF3 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFAF3 36
  • 84.6 (n)
  • 83.7 (a)
NDUFAF3 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufaf3 36
  • 79.17 (n)
  • 80.43 (a)
Ndufaf3 16
Ndufaf3 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFAF3 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAF3 37
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufaf3 36
  • 77.36 (n)
  • 79.89 (a)
lizard
(Anolis carolinensis)
Reptilia NDUFAF3 37
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf3 36
  • 63.17 (n)
  • 62.94 (a)
Str.15760 36
zebrafish
(Danio rerio)
Actinopterygii ndufaf3 36
  • 64.6 (n)
  • 63.45 (a)
ndufaf3 37
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003819 36
  • 52.49 (n)
  • 44.88 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5569 36
  • 52.49 (n)
  • 41.73 (a)
CG5569 37
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nuaf-3 36
  • 46.43 (n)
  • 40.71 (a)
nuaf-3 37
  • 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

Selected 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 MAF
rs13085163 -- 49,023,642(+) tagag(A/G)cccct downstream-variant-500B
rs78116829 -- 49,023,366(+) AAGGA(C/G)TCACT utr-variant-3-prime
rs117051791 -- 49,023,270(+) ATAAT(A/G)ATTTA utr-variant-3-prime
rs138275059 -- 49,023,111(+) TGGAG(C/T)TGCTC reference, missense
rs149913973 -- 49,023,747(+) TGCAA(A/C)CTCCG downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv876764 CNV Loss 21882294

Relevant External Links for NDUFAF3 Gene

HapMap Linkage Disequilibrium report
NDUFAF3
Human Gene Mutation Database (HGMD)
NDUFAF3

Disorders for NDUFAF3 Gene

(1) OMIM Diseases for NDUFAF3 Gene (612911)

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

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
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Molecular cloning of a novel alternatively spliced nuclear protein. (PMID: 9349717) Hartmann A.M. … Stamm S. (Biochim. Biophys. Acta 1997) 2 3
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  5. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)- interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. (PMID: 19463981) Saada A. … Nijtmans L.G. (Am. J. Hum. Genet. 2009) 3 4

Products for NDUFAF3 Gene

Sources for NDUFAF3 Gene

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