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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] 1 Alpha Subcomplex Assembly Factor 5 3 4
  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 5 2 3
  • Putative Methyltransferase NDUFAF5 3 4
  • C20orf7 3 4
  • Probable Methyltransferase C20orf7, Mitochondrial 3
  • Arginine-Hydroxylase NDUFAF5, Mitochondrial 3
  • Chromosome 20 Open Reading Frame 7 2
  • BA526K24.2 3
  • EC 1.-.-.- 4
  • 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 Leigh Syndrome With Leukodystrophy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include methyltransferase activity.

UniProtKB/Swiss-Prot for NDUFAF5 Gene

  • Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634). Acts by mediating hydroxylation of Arg-111 of NDUFS7 (PubMed:27226634). May also have methyltransferase activity (Probable).

Additional gene information for NDUFAF5 Gene

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

Genomics for NDUFAF5 Gene

GeneHancer (GH) Regulatory Elements for NDUFAF5 Gene

Promoters and enhancers for NDUFAF5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I013783 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 560.5 +0.2 204 3.5 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A NDUFAF5 ESF1 GC20M013782 GC20P013817
GH20I013784 Promoter 0.5 EPDnew 550.8 -1.7 -1736 0.1 ESF1 GC20M013782 NDUFAF5
GH20I013800 Enhancer 0.9 ENCODE 10.1 +16.0 15977 1.1 FOXA2 MLX ARID4B DMAP1 ZNF48 ZSCAN9 RAD21 RARA ETS1 YY1 NDUFAF5 GC20P013817
GH20I013008 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.4 -774.8 -774777 3.3 ELF3 FOXA2 SMAD1 ZFP64 ARID4B BMI1 IRF4 RAD21 ZNF48 YY1 SPTLC3 NDUFAF5 LOC100420611
GH20I013868 Enhancer 0.7 Ensembl ENCODE 11.3 +83.8 83751 1 JUND POLR2A MAX GABPA NDUFAF5 GC20P013817 GC20M013973 SEL1L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NDUFAF5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NDUFAF5 Gene

Genomic Locations for NDUFAF5 Gene
chr20:13,784,950-13,821,582
(GRCh38/hg38)
Size:
36,633 bases
Orientation:
Plus strand
chr20:13,765,596-13,799,067
(GRCh37/hg19)

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:
    Arginine-hydroxylase NDUFAF5, mitochondrial
    Protein Accession:
    Q5TEU4
    Secondary Accessions:
    • A8K166
    • Q6GPH3
    • Q9H6F4

    Protein attributes for NDUFAF5 Gene

    Size:
    345 amino acids
    Molecular mass:
    38918 Da
    Quaternary structure:
    • Interacts with NDUFAF8, leading to stabilize NDUFAF5 (PubMed:27499296). Interacts with NDUFS7 (PubMed:27226634).

    Alternative splice isoforms for NDUFAF5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFAF5 Gene

Post-translational modifications for NDUFAF5 Gene

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:
Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634). Acts by mediating hydroxylation of Arg-111 of NDUFS7 (PubMed:27226634). May also have methyltransferase activity (Probable).

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:0005515 protein binding IPI 27226634
GO:0008168 methyltransferase activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016740 transferase activity IEA --
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

Inhibitory RNA Products

Clone Products

No data available for Phenotypes From GWAS Catalog , 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. {ECO:0000269 PubMed:18940309}.

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 NDUFAF5 gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
peroxisome 1
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NDUFAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 27226634
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
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 the Human Protein Atlas (HPA) for NDUFAF5 Gene

Pathways & Interactions for NDUFAF5 Gene

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

Gene Ontology (GO) - Biological Process for NDUFAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0030961 peptidyl-arginine hydroxylation IMP 27226634
GO:0032259 methylation IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NDUFAF5 Gene



NURSA nuclear receptor signaling pathways regulating expression of NDUFAF5 Gene:

NDUFAF5

SOURCE GeneReport for Unigene cluster for NDUFAF5 Gene:

Hs.472165

Evidence on tissue expression from TISSUES for NDUFAF5 Gene

  • Nervous system(4.2)
  • Pancreas(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFAF5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
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 , Protein tissue co-expression partners 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 33 34
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia NDUFAF5 33 34
  • 90.05 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF5 34
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C13H20orf7 33 34
  • 87.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAF5 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufaf5 33 16 34
  • 84.55 (n)
rat
(Rattus norvegicus)
Mammalia Ndufaf5 33
  • 84.55 (n)
chicken
(Gallus gallus)
Aves C20ORF7 33 34
  • 72.12 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFAF5 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf5 33
  • 70.87 (n)
Str.17221 33
zebrafish
(Danio rerio)
Actinopterygii ndufaf5 33 34
  • 67.44 (n)
Dr.15897 33
fruit fly
(Drosophila melanogaster)
Insecta CG8067 33 34
  • 54.95 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010842 33
  • 51.1 (n)
worm
(Caenorhabditis elegans)
Secernentea K09E4.3 33 34
  • 53.82 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G22800 33
  • 51.98 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03439 33
  • 51.28 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5775 33
Species where no ortholog for NDUFAF5 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs118203929 pathogenic, Mitochondrial complex I deficiency, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 13,801,652(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs267606689 pathogenic, Mitochondrial complex I deficiency, Leigh syndrome (LS) [MIM:256000] 13,794,939(+) A/C coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs531254130 likely-pathogenic, Inborn genetic diseases 13,785,223(+) A/C 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs757043077 pathogenic, likely-pathogenic, Leigh syndrome, not provided, Mitochondrial complex I deficiency, Leigh syndrome (LS) [MIM:256000] 13,808,873(+) G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs761389904 likely-pathogenic, Inborn genetic diseases 13,816,520(+) T/G coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFAF5 Gene

Variant ID Type Subtype PubMed ID
nsv1061303 CNV gain 25217958

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)

Additional Variant Information for NDUFAF5 Gene

Human Gene Mutation Database (HGMD)
NDUFAF5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFAF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFAF5 Gene

Disorders for NDUFAF5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • nadh:q(1) oxidoreductase deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leigh syndrome
  • ls
leber hereditary optic neuropathy
  • leber optic atrophy
mitochondrial metabolism disease
  • mitochondrial diseases
- 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, ECO:0000269 PubMed:21607760}. 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.

Additional Disease Information for 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. Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. (PMID: 21607760) Saada A … Elpeleg O (Journal of inherited metabolic disease 2012) 2 3 4 58
  2. Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. (PMID: 18940309) Sugiana C … Thorburn DR (American journal of human genetics 2008) 2 3 4 58
  3. NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I. (PMID: 27226634) Rhein VF … Walker JE (The Journal of biological chemistry 2016) 3 4 58
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 4 58
  5. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. (PMID: 19542079) Gerards M … Smeets HJ (Journal of medical genetics 2010) 3 4 58

Products for NDUFAF5 Gene

Sources for NDUFAF5 Gene

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