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Aliases for NDUFAF7 Gene

Aliases for NDUFAF7 Gene

  • NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 7 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 7 2 3
  • NADH Dehydrogenase [Ubiquinone] Complex I, Assembly Factor 7 3 4
  • Mitochondrial Dysfunction Protein A Homolog 2 3
  • C2orf56 3 4
  • Protein Arginine Methyltransferase NDUFAF7, Mitochondrial 3
  • Protein MidA Homolog, Mitochondrial 3
  • Chromosome 2 Open Reading Frame 56 2
  • Protein MidA Homolog 4
  • EC 2.1.1.320 4
  • PRO1853 3
  • MidA 3

External Ids for NDUFAF7 Gene

Previous HGNC Symbols for NDUFAF7 Gene

  • C2orf56

Previous GeneCards Identifiers for NDUFAF7 Gene

  • GC02P037460

Summaries for NDUFAF7 Gene

Entrez Gene Summary for NDUFAF7 Gene

  • This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

GeneCards Summary for NDUFAF7 Gene

NDUFAF7 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 7) is a Protein Coding gene. 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 enzyme binding and methyltransferase activity.

UniProtKB/Swiss-Prot for NDUFAF7 Gene

  • Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397). Acts by mediating symmetric dimethylation of Arg-118 of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFAF7 Gene

Genomics for NDUFAF7 Gene

Regulatory Elements for NDUFAF7 Gene

Enhancers for NDUFAF7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G037181 1.3 Ensembl ENCODE dbSUPER 26.1 -49.7 -49749 1.6 HDAC1 JUN ZBTB40 FOSL1 GATA3 ZNF316 GATA2 NR2F6 NFE2 HES1 NDUFAF7 EIF2AK2 CEBPZOS CEBPZ RNU6-939P SULT6B1 PRKD3 RPL31P16
GH02G037189 1.4 Ensembl ENCODE dbSUPER 16 -41.5 -41520 1.6 ELF3 FOXA2 ARID4B RAD21 RARA SLC30A9 SCRT2 FOS MIXL1 THAP11 EIF2AK2 NDUFAF7 CEBPZOS CEBPZ RPL31P16
GH02G037154 1 ENCODE 21.7 -75.1 -75111 3.1 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 BRCA1 ZNF48 ZNF766 SP3 NDUFAF7 EIF2AK2 CEBPZOS RPL31P16 SULT6B1 CEBPZ ENSG00000224891
GH02G037195 1.3 ENCODE dbSUPER 16.5 -33.2 -33242 5.0 PKNOX1 FOXA2 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF766 CEBPZOS CEBPZ NDUFAF7 EIF2AK2 SULT6B1 ENSG00000272054
GH02G037204 1 ENCODE dbSUPER 17.4 -25.7 -25698 3.6 CBX3 FOXA2 TEAD4 MAX CHD7 POLR2H HDAC2 POLR2A ADNP POU5F1 CEBPZOS CEBPZ NDUFAF7 EIF2AK2 ENSG00000272054 SULT6B1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFAF7 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFAF7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000115327 -431 2401 HDGF PKNOX1 MLX ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 FOS

Genomic Location for NDUFAF7 Gene

Chromosome:
2
Start:
37,231,631 bp from pter
End:
37,253,403 bp from pter
Size:
21,773 bases
Orientation:
Plus strand

Genomic View for NDUFAF7 Gene

Genes around NDUFAF7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFAF7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFAF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAF7 Gene

Proteins for NDUFAF7 Gene

  • Protein details for NDUFAF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L592-NDUF7_HUMAN
    Recommended name:
    Protein arginine methyltransferase NDUFAF7, mitochondrial
    Protein Accession:
    Q7L592
    Secondary Accessions:
    • Q7Z399
    • Q9P1G3

    Protein attributes for NDUFAF7 Gene

    Size:
    441 amino acids
    Molecular mass:
    49238 Da
    Quaternary structure:
    • Interacts with NDUFS2 (PubMed:20406883, PubMed:24089531).
    SequenceCaution:
    • Sequence=AAF71091.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH12374.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NDUFAF7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFAF7 Gene

Post-translational modifications for NDUFAF7 Gene

  • Ubiquitination at posLast=191191
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NDUFAF7 Gene

Domains & Families for NDUFAF7 Gene

Protein Domains for NDUFAF7 Gene

Suggested Antigen Peptide Sequences for NDUFAF7 Gene

Graphical View of Domain Structure for InterPro Entry

Q7L592

UniProtKB/Swiss-Prot:

NDUF7_HUMAN :
  • Belongs to the NDUFAF7 family.
Family:
  • Belongs to the NDUFAF7 family.
genes like me logo Genes that share domains with NDUFAF7: view

Function for NDUFAF7 Gene

Molecular function for NDUFAF7 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
2 S-adenosyl-L-methionine + [protein]-L-arginine = 2 S-adenosyl-L-homocysteine + [protein]-N(omega),N(omega)-dimethyl-L-arginine.
UniProtKB/Swiss-Prot Function:
Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397). Acts by mediating symmetric dimethylation of Arg-118 of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531).

Enzyme Numbers (IUBMB) for NDUFAF7 Gene

Gene Ontology (GO) - Molecular Function for NDUFAF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24089531
GO:0008168 methyltransferase activity NAS 20406883
GO:0016740 transferase activity IEA --
GO:0019899 enzyme binding IPI 20406883
GO:0035243 protein-arginine omega-N symmetric methyltransferase activity IMP 24089531
genes like me logo Genes that share ontologies with NDUFAF7: view
genes like me logo Genes that share phenotypes with NDUFAF7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFAF7 Gene

Localization for NDUFAF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFAF7 Gene

Mitochondrion.

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 NDUFAF7 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NDUFAF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005739 mitochondrion IEA,IDA 20406883
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with NDUFAF7: view

Pathways & Interactions for NDUFAF7 Gene

genes like me logo Genes that share pathways with NDUFAF7: view

Gene Ontology (GO) - Biological Process for NDUFAF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019918 peptidyl-arginine methylation, to symmetrical-dimethyl arginine IMP 24089531
GO:0032259 methylation IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0046034 ATP metabolic process IBA --
genes like me logo Genes that share ontologies with NDUFAF7: view

No data available for SIGNOR curated interactions for NDUFAF7 Gene

Drugs & Compounds for NDUFAF7 Gene

No Compound Related Data Available

Transcripts for NDUFAF7 Gene

Unigene Clusters for NDUFAF7 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF7 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10
SP1: - - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - -
SP5: - - - - - - - - -
SP6: - -
SP7: - - -
SP8: - - - - - - - - - -
SP9: -
SP10:
SP11: - - -

Relevant External Links for NDUFAF7 Gene

GeneLoc Exon Structure for
NDUFAF7
ECgene alternative splicing isoforms for
NDUFAF7

Expression for NDUFAF7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFAF7 Gene

Protein differential expression in normal tissues from HIPED for NDUFAF7 Gene

This gene is overexpressed in Heart (11.5) and Salivary gland (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFAF7 Gene



Protein tissue co-expression partners for NDUFAF7 Gene

NURSA nuclear receptor signaling pathways regulating expression of NDUFAF7 Gene:

NDUFAF7

SOURCE GeneReport for Unigene cluster for NDUFAF7 Gene:

Hs.433466

Evidence on tissue expression from TISSUES for NDUFAF7 Gene

  • Liver(4.2)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with NDUFAF7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFAF7 Gene

Orthologs for NDUFAF7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFAF7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF7 34 35
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia NDUFAF7 34 35
  • 87.5 (n)
dog
(Canis familiaris)
Mammalia NDUFAF7 34 35
  • 87.42 (n)
mouse
(Mus musculus)
Mammalia Ndufaf7 34 16 35
  • 85.05 (n)
rat
(Rattus norvegicus)
Mammalia Ndufaf7 34
  • 83.8 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF7 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 80 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves C2ORF56 34
  • 69.13 (n)
NDUFAF7 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFAF7 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf7 34
  • 66.17 (n)
Str.3484 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6981 34
zebrafish
(Danio rerio)
Actinopterygii ndufaf7 34 35
  • 61.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17726 34 35
  • 50.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004909 34
  • 50.59 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK1128.1 34 35
  • 50.48 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G28700 34
  • 52.42 (n)
rice
(Oryza sativa)
Liliopsida Os01g0588800 34
  • 51.59 (n)
Os.26711 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00183 34
  • 46.96 (n)
Species where no ortholog for NDUFAF7 was found in the sources mined by GeneCards:
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 NDUFAF7 Gene

ENSEMBL:
Gene Tree for NDUFAF7 (if available)
TreeFam:
Gene Tree for NDUFAF7 (if available)

Paralogs for NDUFAF7 Gene

Pseudogenes.org Pseudogenes for NDUFAF7 Gene

genes like me logo Genes that share paralogs with NDUFAF7: view

No data available for Paralogs for NDUFAF7 Gene

Variants for NDUFAF7 Gene

Sequence variations from dbSNP and Humsavar for NDUFAF7 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs371125538 Likely benign 37,243,898(+) GTTGA(C/T)ATTGA nc-transcript-variant, reference, synonymous-codon
rs756442818 Likely benign 37,231,724(+) TGAGG(A/T)CAGGT nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs73927405 Uncertain significance 37,231,728(+) GTCAG(A/G)TTTGG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs764894035 Uncertain significance 37,231,706(+) TCAGC(A/G)TGAGT nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs769640890 Uncertain significance 37,246,074(+) TCATG(C/T)TGAAG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NDUFAF7 Gene

Variant ID Type Subtype PubMed ID
nsv2684 CNV insertion 18451855

Variation tolerance for NDUFAF7 Gene

Residual Variation Intolerance Score: 42.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFAF7 Gene

Human Gene Mutation Database (HGMD)
NDUFAF7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFAF7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFAF7 Gene

Disorders for NDUFAF7 Gene

Relevant External Links for NDUFAF7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFAF7

No disorders were found for NDUFAF7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NDUFAF7 Gene

Publications for NDUFAF7 Gene

  1. The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis. (PMID: 24838397) Zurita RendA^n O. … Shoubridge E.A. (Hum. Mol. Genet. 2014) 3 4 64
  2. NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I. (PMID: 24089531) Rhein V.F. … Walker J.E. (J. Biol. Chem. 2013) 3 4 64
  3. MidA is a putative methyltransferase that is required for mitochondrial complex I function. (PMID: 20406883) Carilla-Latorre S. … Escalante R. (J. Cell Sci. 2010) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64

Products for NDUFAF7 Gene

Sources for NDUFAF7 Gene

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