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Aliases for NDUFAF5 Gene

Aliases for NDUFAF5 Gene

  • NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 5 2 3
  • Probable Methyltransferase C20orf7, Mitochondrial 3 4
  • C20orf7 3 4
  • Chromosome 20 Open Reading Frame 7 2
  • BA526K24.2 3
  • EC 2.1.1.- 4
  • DJ842G6.1 3

External Ids for NDUFAF5 Gene

Previous HGNC Symbols for NDUFAF5 Gene

  • C20orf7

Summaries for NDUFAF5 Gene

Entrez Gene Summary for NDUFAF5 Gene

  • The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for NDUFAF5 Gene

NDUFAF5 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5) is a Protein Coding gene. Diseases associated with NDUFAF5 include Mitochondrial Complex I Deficiency and Ndufaf5-Related Mitochondrial Complex 1 Deficiency. 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 methyltransferase activity.

UniProtKB/Swiss-Prot for NDUFAF5 Gene

  • Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFAF5 Gene

Genomics for NDUFAF5 Gene

Regulatory Elements for NDUFAF5 Gene

Enhancers for NDUFAF5 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 NDUFAF5 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFAF5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFAF5 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFAF5 Gene

Chromosome:
20
Start:
13,784,950 bp from pter
End:
13,821,582 bp from pter
Size:
36,633 bases
Orientation:
Plus strand

Genomic View for NDUFAF5 Gene

Genes around NDUFAF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFAF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFAF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAF5 Gene

Proteins for NDUFAF5 Gene

  • Protein details for NDUFAF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TEU4-NDUF5_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5
    Protein Accession:
    Q5TEU4
    Secondary Accessions:
    • A8K166
    • Q6GPH3
    • Q9H6F4

    Protein attributes for NDUFAF5 Gene

    Size:
    345 amino acids
    Molecular mass:
    38918 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NDUFAF5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFAF5 Gene

Proteomics data for NDUFAF5 Gene at MOPED

Post-translational modifications for NDUFAF5 Gene

  • Ubiquitination at Lys 109
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFAF5 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NDUFAF5

No data available for DME Specific Peptides for NDUFAF5 Gene

Domains & Families for NDUFAF5 Gene

Protein Domains for NDUFAF5 Gene

Graphical View of Domain Structure for InterPro Entry

Q5TEU4

UniProtKB/Swiss-Prot:

NDUF5_HUMAN :
  • Belongs to the methyltransferase superfamily.
Family:
  • Belongs to the methyltransferase superfamily.
genes like me logo Genes that share domains with NDUFAF5: view

Function for NDUFAF5 Gene

Molecular function for NDUFAF5 Gene

UniProtKB/Swiss-Prot Function:
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity.

Enzyme Numbers (IUBMB) for NDUFAF5 Gene

Gene Ontology (GO) - Molecular Function for NDUFAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with NDUFAF5: view

Phenotypes for NDUFAF5 Gene

genes like me logo Genes that share phenotypes with NDUFAF5: view

Human Phenotype Ontology for NDUFAF5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NDUFAF5 Gene

Localization for NDUFAF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFAF5 Gene

Mitochondrion inner membrane. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFAF5 Gene COMPARTMENTS Subcellular localization image for NDUFAF5 gene
Compartment Confidence
mitochondrion 5
cytosol 1
golgi apparatus 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for NDUFAF5 Gene

Pathways & Interactions for NDUFAF5 Gene

genes like me logo Genes that share pathways with NDUFAF5: view

Interacting Proteins for NDUFAF5 Gene

Gene Ontology (GO) - Biological Process for NDUFAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044237 cellular metabolic process TAS --
genes like me logo Genes that share ontologies with NDUFAF5: view

No data available for SIGNOR curated interactions for NDUFAF5 Gene

Drugs & Compounds for NDUFAF5 Gene

No Compound Related Data Available

Transcripts for NDUFAF5 Gene

Unigene Clusters for NDUFAF5 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF5 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - - - - -
SP6: - - - - - -
SP7: -
SP8: - - -
SP9:
SP10:

Relevant External Links for NDUFAF5 Gene

GeneLoc Exon Structure for
NDUFAF5
ECgene alternative splicing isoforms for
NDUFAF5

Expression for NDUFAF5 Gene

mRNA expression in normal human tissues for NDUFAF5 Gene

Protein differential expression in normal tissues from HIPED for NDUFAF5 Gene

This gene is overexpressed in Heart (19.1), Liver (15.8), Adrenal (8.6), and Kidney (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFAF5 Gene



SOURCE GeneReport for Unigene cluster for NDUFAF5 Gene Hs.472165

genes like me logo Genes that share expression patterns with NDUFAF5: 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 Protein tissue co-expression partners for NDUFAF5 Gene

Orthologs for NDUFAF5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFAF5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C13H20orf7 35
  • 87.82 (n)
  • 88.62 (a)
C13H20orf7 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFAF5 35
  • 90.05 (n)
  • 91.01 (a)
NDUFAF5 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufaf5 35
  • 84.55 (n)
  • 84.84 (a)
Ndufaf5 16
Ndufaf5 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF5 35
  • 99.52 (n)
  • 99.71 (a)
NDUFAF5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufaf5 35
  • 84.55 (n)
  • 84.55 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF5 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAF5 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves C20ORF7 35
  • 72.12 (n)
  • 74.69 (a)
C20ORF7 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFAF5 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf5 35
  • 70.87 (n)
  • 71.76 (a)
Str.17221 35
zebrafish
(Danio rerio)
Actinopterygii Dr.15897 35
ndufaf5 35
  • 67.44 (n)
  • 70.2 (a)
ndufaf5 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010842 35
  • 51.1 (n)
  • 51.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8067 35
  • 54.95 (n)
  • 54.73 (a)
CG8067 36
  • 49 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K09E4.3 35
  • 53.82 (n)
  • 52.43 (a)
K09E4.3 36
  • 49 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G22800 35
  • 51.98 (n)
  • 45.8 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5775 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03439 35
  • 51.28 (n)
  • 50.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToOne
Species with no ortholog for NDUFAF5:
  • 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)
  • 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 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 NDUFAF5 Gene

ENSEMBL:
Gene Tree for NDUFAF5 (if available)
TreeFam:
Gene Tree for NDUFAF5 (if available)

Paralogs for NDUFAF5 Gene

No data available for Paralogs for NDUFAF5 Gene

Variants for NDUFAF5 Gene

Sequence variations from dbSNP and Humsavar for NDUFAF5 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs6042368 - 13,817,181(+) ACAAC(C/T)TTATG nc-transcript-variant, downstream-variant-500B, reference, missense
VAR_054119 Mitochondrial complex I deficiency (MT-C1D)
VAR_067956 Leigh syndrome (LS)
rs15415 -- 13,816,945(-) TCATG(A/G/T)TATTT nc-transcript-variant, reference, synonymous-codon, stop-gained
rs1015517 -- 13,801,763(+) ACTGT(A/G/T)TGTGT intron-variant

Variation tolerance for NDUFAF5 Gene

Residual Variation Intolerance Score: 53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFAF5 Gene

Human Gene Mutation Database (HGMD)
NDUFAF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NDUFAF5 Gene

Disorders for NDUFAF5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NDUFAF5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
ndufaf5-related mitochondrial complex 1 deficiency
  • nadh:q(1) oxidoreductase deficiency, nadh-coenzyme q reductase deficiency, mitochondrial nadh dehydrogenase component of complex i, deficiency of
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leber hereditary optic neuropathy
  • leber optic atrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUF5_HUMAN
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:19542079}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:18940309}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDUFAF5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFAF5
genes like me logo Genes that share disorders with NDUFAF5: view

No data available for Genatlas for NDUFAF5 Gene

Publications for NDUFAF5 Gene

  1. Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. (PMID: 18940309) Sugiana C. … Thorburn D.R. (Am. J. Hum. Genet. 2008) 2 3 4 67
  2. Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. (PMID: 21607760) Saada A. … Elpeleg O. (J. Inherit. Metab. Dis. 2012) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3
  5. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. (PMID: 19542079) Gerards M. … Smeets H.J. (J. Med. Genet. 2010) 3

Products for NDUFAF5 Gene

Sources for NDUFAF5 Gene

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