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] See more...

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] 1 Alpha Subcomplex Assembly Factor 3 3 4
  • 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
  • MC1DN18 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, Nuclear Type 18 and Leigh Syndrome With Cardiomyopathy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism.

UniProtKB/Swiss-Prot Summary for NDUFAF3 Gene

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

Gene Wiki entry for NDUFAF3 Gene

Additional gene information for NDUFAF3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFAF3 Gene

Genomics for NDUFAF3 Gene

GeneHancer (GH) Regulatory Elements for NDUFAF3 Gene

Promoters and enhancers for NDUFAF3 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
GH03J049016 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -0.2 -198 6.8 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 MYC POLR2G SP1 DALRD3 MIR191 MIR425 NDUFAF3 WDR6 AMT ENSG00000235236 ENSG00000223343 P4HTM RBM6
GH03J049338 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +325.3 325342 16 ZBTB40 EP300 CTCF SIN3A NRF1 POLR2G SP1 GTF2E2 PHF8 PHB2 USP4 lnc-TCTA-3 AMT QRICH1 ATRIP DALRD3 RHOA WDR6 NICN1 ENSG00000230454
GH03J048769 Enhancer 0.5 Ensembl ENCODE 9.6 -250.2 -250151 1.4 PRDM1 RUNX3 PRKAR2A PRKAR2A-AS1 NCKIPSD COL7A1 PFKFB4 UCN2 QARS1 QRICH1 MIR425 DALRD3
GH03J049080 Enhancer 0.4 Ensembl 11.6 +60.2 60242 1.4 SPI1 SP7 ZNF770 WDR6 QARS1 IMPDH2 DALRD3 MIR191 MIR425 NDUFAF3 USP19 LAMB2 CCDC71
GH03J049081 Enhancer 0.3 Ensembl 11.4 +61.2 61242 0.2 SP7 RN7SL182P RF00017-3995 lnc-NDUFAF3-3 QARS1 IMPDH2 DALRD3 MIR191 MIR425 NDUFAF3 USP19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFAF3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFAF3

Top Transcription factor binding sites by QIAGEN in the NDUFAF3 gene promoter:
  • E2F
  • E2F-1

Genomic Locations for NDUFAF3 Gene

Genomic Locations for NDUFAF3 Gene
chr3:49,020,459-49,023,495
(GRCh38/hg38)
Size:
3,037 bases
Orientation:
Plus strand
chr3:49,057,892-49,060,928
(GRCh37/hg19)
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

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

Gene Families for NDUFAF3 Gene

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

Protein Domains for NDUFAF3 Gene

Suggested Antigen Peptide Sequences for NDUFAF3 Gene

GenScript: Design optimal peptide antigens:
  • Chromosome 3 open reading frame 60, isoform CRA_c (A4FU71_HUMAN)
  • NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 (NDUF3_HUMAN)
genes like me logo Genes that share domains with NDUFAF3: view

No data available for Graphical View of Domain Structure and 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).

Phenotypes From GWAS Catalog for NDUFAF3 Gene

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
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 NDUFAF3 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NDUFAF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFAF3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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

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

No data available for SIGNOR curated interactions for NDUFAF3 Gene

Drugs & Compounds for NDUFAF3 Gene

No Compound Related Data Available

Transcripts for NDUFAF3 Gene

mRNA/cDNA for NDUFAF3 Gene

5 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 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 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

Expression for NDUFAF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for NDUFAF3 Gene



Protein tissue co-expression partners for NDUFAF3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFAF3

SOURCE GeneReport for Unigene cluster for NDUFAF3 Gene:

Hs.31387

Evidence on tissue expression from TISSUES for NDUFAF3 Gene

  • Lung(4.4)
  • Liver(4.3)
  • Nervous system(3.8)
  • Pancreas(3.1)
  • Heart(2.2)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFAF3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFAF3: view

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
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF3 31 30
  • 99.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFAF3 31 30
  • 85.14 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFAF3 31 30
  • 84.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufaf3 17 31 30
  • 79.17 (n)
rat
(Rattus norvegicus)
Mammalia Ndufaf3 30
  • 77.36 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF3 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAF3 31
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFAF3 31
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf3 30
  • 63.17 (n)
Str.15760 30
zebrafish
(Danio rerio)
Actinopterygii ndufaf3 31 30
  • 64.6 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5569 31 30
  • 52.49 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003819 30
  • 52.49 (n)
worm
(Caenorhabditis elegans)
Secernentea nuaf-3 31 30
  • 46.43 (n)
OneToOne
Species where no ortholog for NDUFAF3 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFAF3: view image

Paralogs for NDUFAF3 Gene

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

  • NDUF3_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFAF3 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
638292 Likely Pathogenic: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 49,023,111(+) C/T MISSENSE_VARIANT
681408 Likely Benign: not provided 49,022,332(+) C/G INTRON_VARIANT
725936 Likely Benign: not provided 49,022,871(+) C/T INTRON_VARIANT
731405 Benign: not provided 49,022,692(+) C/G INTRON_VARIANT
746337 Likely Benign: not provided 49,022,412(+) T/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFAF3 Gene

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)

Additional Variant Information for NDUFAF3 Gene

Human Gene Mutation Database (HGMD)
NDUFAF3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFAF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NDUFAF3 Gene

Disorders for NDUFAF3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for NDUFAF3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 18
  • mc1dn18
leigh syndrome with cardiomyopathy
  • cardiomyopathy with hypotonia due to cytochrome c oxidase deficiency
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
leigh syndrome
  • ls
myasthenic syndrome, congenital, 18
  • cms18
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUF3_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 18 (MC1DN18) [MIM:618240]: 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. MC1DN18 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:19463981, ECO:0000269 PubMed:27986404}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFAF3

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 NDUFAF3: view

No data available for Genatlas for NDUFAF3 Gene

Publications for NDUFAF3 Gene

  1. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. (PMID: 19463981) Saada A … Nijtmans LG (American journal of human genetics 2009) 2 3 4 54
  2. 2P1, a novel male mouse cDNA specifically expressed during meiosis. (PMID: 12653254) Hammami-Hamza S … Finaz C (The International journal of developmental biology 2003) 2 3 23 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Molecular cloning of a novel alternatively spliced nuclear protein. (PMID: 9349717) Hartmann AM … Stamm S (Biochimica et biophysica acta 1997) 2 3 54

Products for NDUFAF3 Gene

Sources for NDUFAF3 Gene