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Aliases for NDUFAF5 Gene

Aliases for NDUFAF5 Gene

  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 5 2 3
  • C20orf7 3 4 6
  • Probable Methyltransferase C20orf7, Mitochondrial 3 4
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 5 3
  • 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 Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 5) is a Protein Coding gene. Diseases associated with NDUFAF5 include mitochondrial complex i deficiency and leigh syndrome. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NDUFAF5 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFAF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAF5 Gene

No data available for Regulatory Elements 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 Lys109
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFAF5 Gene

No data available for DME Specific Peptides for NDUFAF5 Gene

Domains for NDUFAF5 Gene

Gene Families for NDUFAF5 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for NDUFAF5 Gene

Graphical View of Domain Structure for InterPro Entry

Q5TEU4

UniProtKB/Swiss-Prot:

NDUF5_HUMAN :
  • Q5TEU4
Family:
  • Belongs to the methyltransferase superfamily.
genes like me logo Genes that share domains with NDUFAF5: view

No data available for Suggested Antigen Peptide Sequences for NDUFAF5 Gene

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 --
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with NDUFAF5: view

Phenotypes for NDUFAF5 Gene

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

Animal Model Products

CRISPR Products

No data available for Animal Models , miRNA , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for NDUFAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0031314 extrinsic component of mitochondrial inner membrane IDA 18940309
genes like me logo Genes that share ontologies with NDUFAF5: view

No data available for Subcellular locations from COMPARTMENTS for NDUFAF5 Gene

Pathways for NDUFAF5 Gene

SuperPathways for NDUFAF5 Gene

No Data Available

Interacting Proteins for NDUFAF5 Gene

Gene Ontology (GO) - Biological Process for NDUFAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process --
GO:0032259 methylation IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 18940309
genes like me logo Genes that share ontologies with NDUFAF5: view

No data available for Pathways by source for NDUFAF5 Gene

Transcripts for NDUFAF5 Gene

Unigene Clusters for NDUFAF5 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFAF5

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with NDUFAF5: view

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 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
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF5 35
  • 99.52 (n)
  • 99.71 (a)
NDUFAF5 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia NDUFAF5 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAF5 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufaf5 35
  • 84.55 (n)
  • 84.55 (a)
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)
bread mold
(Neurospora crassa)
Ascomycetes NCU03439 35
  • 51.28 (n)
  • 50.35 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5775 35
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 MAF
rs15415 -- 13,816,945(-) TCATG(A/G/T)TATTT stop-gained, synonymous-codon, reference, nc-transcript-variant
rs736365 -- 13,808,236(+) AAGGA(A/G)CACCT intron-variant
rs736366 -- 13,808,068(+) TCTCC(A/G)TCTTG intron-variant
rs885796 -- 13,808,601(+) CCCAA(A/G)GAGAG intron-variant
rs926976 -- 13,800,478(+) AGTCA(A/G)TCAAA intron-variant

Relevant External Links for NDUFAF5 Gene

HapMap Linkage Disequilibrium report
NDUFAF5
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

MalaCards: The human disease database. (2) Diseases for NDUFAF5 Gene including...

Search for NDUFAF5 Gene in MalaCards »

(1) OMIM Diseases for NDUFAF5 Gene (612360)

UniProtKB/Swiss-Prot

NDUF5_HUMAN
  • 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.
  • 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.
genes like me logo Genes that share disorders with NDUFAF5: view

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
  2. 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 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. 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
  5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PMID: 21890473) Wagner S.A. … Choudhary C. (Mol. Cell Proteomics 2011) 3

Products for NDUFAF5 Gene

Sources for NDUFAF5 Gene

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