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Aliases for NDUFAF4 Gene

Aliases for NDUFAF4 Gene

  • NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 4 2 3 5
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 4 2 3
  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 4 2 3
  • Hormone-Regulated Proliferation-Associated Protein Of 20 KDa 3 4
  • C6orf66 3 4
  • HRPAP20 3 4
  • Hormone-Regulated Proliferation-Associated Protein, 20 KDa 3
  • Chromosome 6 Open Reading Frame 66 2
  • BA22L21.1 3
  • HSPC125 3
  • My013 3

External Ids for NDUFAF4 Gene

Previous HGNC Symbols for NDUFAF4 Gene

  • C6orf66

Previous GeneCards Identifiers for NDUFAF4 Gene

  • GC06M097446
  • GC06M097337
  • GC06M094771

Summaries for NDUFAF4 Gene

Entrez Gene Summary for NDUFAF4 Gene

  • NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]

GeneCards Summary for NDUFAF4 Gene

NDUFAF4 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 4) is a Protein Coding gene. Diseases associated with NDUFAF4 include Mitochondrial Complex I Deficiency and Leber Hereditary Optic Neuropathy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. GO annotations related to this gene include calmodulin binding.

UniProtKB/Swiss-Prot for NDUFAF4 Gene

  • Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFAF4 Gene

Genomics for NDUFAF4 Gene

Regulatory Elements for NDUFAF4 Gene

Enhancers for NDUFAF4 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 NDUFAF4 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFAF4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFAF4 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFAF4 Gene

96,889,311 bp from pter
96,897,891 bp from pter
8,581 bases
Minus strand

Genomic View for NDUFAF4 Gene

Genes around NDUFAF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFAF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFAF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAF4 Gene

Proteins for NDUFAF4 Gene

  • Protein details for NDUFAF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
    Protein Accession:
    Secondary Accessions:
    • B2R4J5

    Protein attributes for NDUFAF4 Gene

    175 amino acids
    Molecular mass:
    20266 Da
    Quaternary structure:
    • Binds calmodulin. Interacts with NDUFAF3.

neXtProt entry for NDUFAF4 Gene

Proteomics data for NDUFAF4 Gene at MOPED

Post-translational modifications for NDUFAF4 Gene

  • Phosphorylated on serine. Prolactin stimulate serine phosphorylation (By similarity).
  • Ubiquitination at Lys 51, Lys 60, Lys 66, Lys 91, Lys 97, and Lys 107
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFAF4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFAF4 Gene

Domains & Families for NDUFAF4 Gene

Protein Domains for NDUFAF4 Gene


Suggested Antigen Peptide Sequences for NDUFAF4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the NDUFAF4 family.
  • Belongs to the NDUFAF4 family.
genes like me logo Genes that share domains with NDUFAF4: view

Function for NDUFAF4 Gene

Molecular function for NDUFAF4 Gene

UniProtKB/Swiss-Prot Function:
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.
UniProtKB/Swiss-Prot Induction:
Expression is low in quiescent cells and is induced in exponentially proliferating cultures. Expression is also induced when prolactin is added to stationary cells. Induced by dietary differentiating agents such as butyrate and retinoic acid.
genes like me logo Genes that share phenotypes with NDUFAF4: view

Human Phenotype Ontology for NDUFAF4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for NDUFAF4 Gene

miRTarBase miRNAs that target NDUFAF4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFAF4 Gene

Localization for NDUFAF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFAF4 Gene

Mitochondrion. Membrane; Lipid-anchor.

Subcellular locations from

Jensen Localization Image for NDUFAF4 Gene COMPARTMENTS Subcellular localization image for NDUFAF4 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for NDUFAF4 Gene

Pathways & Interactions for NDUFAF4 Gene

genes like me logo Genes that share pathways with NDUFAF4: view

Gene Ontology (GO) - Biological Process for NDUFAF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010257 NADH dehydrogenase complex assembly IEA --
genes like me logo Genes that share ontologies with NDUFAF4: view

No data available for SIGNOR curated interactions for NDUFAF4 Gene

Drugs & Compounds for NDUFAF4 Gene

(1) Drugs for NDUFAF4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Nutra 0
genes like me logo Genes that share compounds with NDUFAF4: view

Transcripts for NDUFAF4 Gene

mRNA/cDNA for NDUFAF4 Gene

Unigene Clusters for NDUFAF4 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF4 Gene

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

Relevant External Links for NDUFAF4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NDUFAF4 Gene

mRNA expression in normal human tissues for NDUFAF4 Gene

Protein differential expression in normal tissues from HIPED for NDUFAF4 Gene

This gene is overexpressed in Brain (6.5) and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFAF4 Gene

SOURCE GeneReport for Unigene cluster for NDUFAF4 Gene Hs.512144

genes like me logo Genes that share expression patterns with NDUFAF4: view

Protein tissue co-expression partners for NDUFAF4 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFAF4 Gene

Orthologs for NDUFAF4 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFAF4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia NDUFAF4 35
  • 83.81 (n)
  • 78.86 (a)
  • 79 (a)
(Canis familiaris)
Mammalia NDUFAF4 35
  • 81.9 (n)
  • 78.29 (a)
  • 78 (a)
(Mus musculus)
Mammalia Ndufaf4 35
  • 79.58 (n)
  • 72.83 (a)
Ndufaf4 16
Ndufaf4 36
  • 73 (a)
(Pan troglodytes)
Mammalia NDUFAF4 35
  • 99.05 (n)
  • 99.43 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Ndufaf4 35
  • 78.74 (n)
  • 72.41 (a)
(Monodelphis domestica)
Mammalia NDUFAF4 36
  • 63 (a)
(Gallus gallus)
Aves NDUFAF4 35
  • 62.3 (n)
  • 53.57 (a)
  • 50 (a)
(Anolis carolinensis)
Reptilia NDUFAF4 36
  • 47 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf4 35
  • 60.08 (n)
  • 55.69 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33349 35
(Danio rerio)
Actinopterygii ndufaf4 35
  • 55.29 (n)
  • 47.06 (a)
ndufaf4 36
  • 41 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007625 35
  • 43.95 (n)
  • 35.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11722 35
  • 45.55 (n)
  • 36.02 (a)
CG11722 36
  • 30 (a)
Species with no ortholog for NDUFAF4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for NDUFAF4 Gene

Gene Tree for NDUFAF4 (if available)
Gene Tree for NDUFAF4 (if available)

Paralogs for NDUFAF4 Gene Pseudogenes for NDUFAF4 Gene

genes like me logo Genes that share paralogs with NDUFAF4: view

No data available for Paralogs for NDUFAF4 Gene

Variants for NDUFAF4 Gene

Sequence variations from dbSNP and Humsavar for NDUFAF4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_044329 Mitochondrial complex I deficiency (MT-C1D)
rs6904407 -- 96,894,662(+) CTATC(A/T)GCTGA intron-variant
rs9487453 -- 96,890,781(+) GGACA(A/T)TTCCC utr-variant-3-prime
rs9487459 -- 96,893,041(+) tcaat(C/T)tcaat intron-variant
rs9487460 -- 96,893,178(+) tcaca(C/T)ctccc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFAF4 Gene

Variant ID Type Subtype PubMed ID
nsv886425 CNV Loss 21882294

Variation tolerance for NDUFAF4 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFAF4 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFAF4 Gene

Disorders for NDUFAF4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NDUFAF4 Gene - From: OMIM, ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leber hereditary optic neuropathy
  • leber optic atrophy
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards


  • 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:18179882}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDUFAF4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with NDUFAF4: view

No data available for Genatlas for NDUFAF4 Gene

Publications for NDUFAF4 Gene

  1. C6ORF66 is an assembly factor of mitochondrial complex I. (PMID: 18179882) Saada A. … Elpeleg O. (Am. J. Hum. Genet. 2008) 2 3 4 67
  2. Oligonucleotide microarray analysis of estrogen receptor alpha-positive postmenopausal breast carcinomas: identification of HRPAP20 and TIMELESS as outstanding candidate markers to predict the response to tamoxifen. (PMID: 17909269) Tozlu-Kara S. … BiA"che I. (J. Mol. Endocrinol. 2007) 3 23
  3. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3
  4. ABCE1 is a highly conserved RNA silencing suppressor. (PMID: 25659154) KAorblane K. … Sarmiento C. (PLoS ONE 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for NDUFAF4 Gene

Sources for NDUFAF4 Gene