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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
  • Mitochondrial Dysfunction Protein A Homolog 2 3
  • Protein MidA Homolog, Mitochondrial 3 4
  • C2orf56 3 4
  • Chromosome 2 Open Reading Frame 56 2
  • 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

GeneCards Summary for NDUFAF7 Gene

NDUFAF7 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 7) is a Protein Coding gene. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include enzyme binding and methyltransferase activity.

UniProtKB/Swiss-Prot for NDUFAF7 Gene

  • Involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).

No data available for Entrez Gene 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

Promoters for NDUFAF7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFAF7 on UCSC Golden Path with GeneCards custom track

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:
    NADH dehydrogenase [ubiquinone] complex I, assembly factor 7
    Protein Accession:
    Q7L592
    Secondary Accessions:
    • Q7Z399
    • Q9P1G3

    Protein attributes for NDUFAF7 Gene

    Size:
    441 amino acids
    Molecular mass:
    49238 Da
    Quaternary structure:
    • Homodimer. Interacts with NDUFS2.
    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

Proteomics data for NDUFAF7 Gene at MOPED

Post-translational modifications for NDUFAF7 Gene

  • Ubiquitination at Lys 191
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NDUFAF7 Gene

Domains & Families for NDUFAF7 Gene

Protein Domains for NDUFAF7 Gene

InterPro:
ProtoNet:

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 Function:
Involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).
genes like me logo Genes that share phenotypes with NDUFAF7: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for NDUFAF7 Gene COMPARTMENTS Subcellular localization image for NDUFAF7 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NDUFAF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Interacting Proteins for NDUFAF7 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000002125%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000002125 for NDUFAF7 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for NDUFAF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032981 mitochondrial respiratory chain complex I assembly IMP,TAS --
GO:0044237 cellular metabolic process TAS --
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:

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 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, MOPED, and MaxQB for NDUFAF7 Gene



SOURCE GeneReport for Unigene cluster for NDUFAF7 Gene Hs.433466

genes like me logo Genes that share expression patterns with NDUFAF7: view

Protein tissue co-expression partners for NDUFAF7 Gene

Primer Products

In Situ Assay 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 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
cow
(Bos Taurus)
Mammalia NDUFAF7 35
  • 87.5 (n)
  • 84.32 (a)
NDUFAF7 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFAF7 35
  • 87.42 (n)
  • 87.05 (a)
NDUFAF7 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufaf7 35
  • 85.05 (n)
  • 85.05 (a)
Ndufaf7 16
Ndufaf7 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF7 35
  • 99.55 (n)
  • 99.55 (a)
NDUFAF7 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufaf7 35
  • 83.8 (n)
  • 83.64 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF7 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves C2ORF56 35
  • 69.13 (n)
  • 69.13 (a)
NDUFAF7 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFAF7 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf7 35
  • 66.17 (n)
  • 62.5 (a)
Str.3484 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.6981 35
zebrafish
(Danio rerio)
Actinopterygii ndufaf7 35
  • 61.05 (n)
  • 64.03 (a)
ndufaf7 36
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004909 35
  • 50.59 (n)
  • 47.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17726 35
  • 50.72 (n)
  • 49.73 (a)
CG17726 36
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZK1128.1 35
  • 50.48 (n)
  • 42.82 (a)
ZK1128.1 36
  • 35 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G28700 35
  • 52.42 (n)
  • 41.86 (a)
rice
(Oryza sativa)
Liliopsida Os.26711 35
Os01g0588800 35
  • 51.59 (n)
  • 42.61 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00183 35
  • 46.96 (n)
  • 40.56 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToOne
Species with no ortholog for NDUFAF7:
  • 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
VAR_038274 -
rs759461 -- 37,246,512(-) GGGGG(G/T)TACAG intron-variant
rs1861444 -- 37,237,368(-) GATAC(C/G)CACAT intron-variant
rs2110965 -- 37,245,661(-) GGCAC(A/G)TAACA intron-variant
rs2540976 -- 37,240,100(-) TGTTT(A/C/G/T)TGAGT intron-variant

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

HapMap Linkage Disequilibrium report
NDUFAF7
Human Gene Mutation Database (HGMD)
NDUFAF7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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. 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. (PMID: 24292274) Speedy H.E. … Houlston R.S. (Nat. Genet. 2014) 3
  4. 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
  5. 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

Products for NDUFAF7 Gene

Sources for NDUFAF7 Gene

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