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Aliases for NDUFAF1 Gene

Aliases for NDUFAF1 Gene

  • NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 1 2 3
  • CIA30 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 1 3
  • NADH-Ubiquinone Oxidoreductase 1 Alpha Subcomplex, Assembly Factor 1 3
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 1 4
  • CGI-65 3
  • CGI65 3

External Ids for NDUFAF1 Gene

Previous GeneCards Identifiers for NDUFAF1 Gene

  • GC15M039395
  • GC15M039466
  • GC15M041681
  • GC15M018531

Summaries for NDUFAF1 Gene

Entrez Gene Summary for NDUFAF1 Gene

  • This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]

GeneCards Summary for NDUFAF1 Gene

NDUFAF1 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1) is a Protein Coding gene. Diseases associated with NDUFAF1 include fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency and mitochondrial complex i deficiency. 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 unfolded protein binding.

UniProtKB/Swiss-Prot for NDUFAF1 Gene

  • Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).

Gene Wiki entry for NDUFAF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFAF1 Gene

Genomics for NDUFAF1 Gene

Regulatory Elements for NDUFAF1 Gene

Promoters for NDUFAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFAF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFAF1 Gene

Chromosome:
15
Start:
41,387,349 bp from pter
End:
41,402,554 bp from pter
Size:
15,206 bases
Orientation:
Minus strand

Genomic View for NDUFAF1 Gene

Genes around NDUFAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAF1 Gene

Proteins for NDUFAF1 Gene

  • Protein details for NDUFAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y375-CIA30_HUMAN
    Recommended name:
    Complex I intermediate-associated protein 30, mitochondrial
    Protein Accession:
    Q9Y375
    Secondary Accessions:
    • Q9BVZ5

    Protein attributes for NDUFAF1 Gene

    Size:
    327 amino acids
    Molecular mass:
    37764 Da
    Quaternary structure:
    • Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, CIA30, ECSIT, and ACAD9 (By similarity). Interacts with ECSIT (PubMed:17344420). Interacts with ACAD9 (PubMed:20816094).

neXtProt entry for NDUFAF1 Gene

Proteomics data for NDUFAF1 Gene at MOPED

Post-translational modifications for NDUFAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFAF1 Gene

Antibody Products

No data available for DME Specific Peptides for NDUFAF1 Gene

Domains & Families for NDUFAF1 Gene

Suggested Antigen Peptide Sequences for NDUFAF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y375

UniProtKB/Swiss-Prot:

CIA30_HUMAN :
  • Belongs to the CIA30 family.
Family:
  • Belongs to the CIA30 family.
genes like me logo Genes that share domains with NDUFAF1: view

Function for NDUFAF1 Gene

Molecular function for NDUFAF1 Gene

UniProtKB/Swiss-Prot Function:
Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).

Gene Ontology (GO) - Molecular Function for NDUFAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051082 unfolded protein binding NAS 11935339
genes like me logo Genes that share ontologies with NDUFAF1: view
genes like me logo Genes that share phenotypes with NDUFAF1: view

Human Phenotype Ontology for NDUFAF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for NDUFAF1 Gene

miRTarBase miRNAs that target NDUFAF1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFAF1 Gene

Localization for NDUFAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFAF1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFAF1 Gene COMPARTMENTS Subcellular localization image for NDUFAF1 gene
Compartment Confidence
mitochondrion 5
cytosol 3

Gene Ontology (GO) - Cellular Components for NDUFAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005747 mitochondrial respiratory chain complex I NAS 11935339
genes like me logo Genes that share ontologies with NDUFAF1: view

Pathways & Interactions for NDUFAF1 Gene

genes like me logo Genes that share pathways with NDUFAF1: view

Gene Ontology (GO) - Biological Process for NDUFAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly NAS 11935339
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
genes like me logo Genes that share ontologies with NDUFAF1: view

No data available for SIGNOR curated interactions for NDUFAF1 Gene

Drugs & Compounds for NDUFAF1 Gene

(1) Drugs for NDUFAF1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Nutra 0
genes like me logo Genes that share compounds with NDUFAF1: view

Transcripts for NDUFAF1 Gene

Unigene Clusters for NDUFAF1 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF1 Gene

No ASD Table

Relevant External Links for NDUFAF1 Gene

GeneLoc Exon Structure for
NDUFAF1
ECgene alternative splicing isoforms for
NDUFAF1

Expression for NDUFAF1 Gene

mRNA expression in normal human tissues for NDUFAF1 Gene

Protein differential expression in normal tissues from HIPED for NDUFAF1 Gene

This gene is overexpressed in Bone (31.9) and Adrenal (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFAF1 Gene



SOURCE GeneReport for Unigene cluster for NDUFAF1 Gene Hs.106529

mRNA Expression by UniProt/SwissProt for NDUFAF1 Gene

Q9Y375-CIA30_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with NDUFAF1: view

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 Protein tissue co-expression partners for NDUFAF1 Gene

Orthologs for NDUFAF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFAF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF1 36
  • 99 (a)
OneToOne
NDUFAF1 35
  • 99.69 (n)
  • 99.39 (a)
cow
(Bos Taurus)
Mammalia NDUFAF1 35
  • 87.56 (n)
  • 83.18 (a)
NDUFAF1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFAF1 36
  • 84 (a)
OneToOne
NDUFAF1 35
  • 87.56 (n)
  • 84.4 (a)
mouse
(Mus musculus)
Mammalia Ndufaf1 16
Ndufaf1 36
  • 77 (a)
OneToOne
Ndufaf1 35
  • 82.36 (n)
  • 77.98 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF1 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAF1 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufaf1 35
  • 83.79 (n)
  • 80.43 (a)
chicken
(Gallus gallus)
Aves NDUFAF1 35
  • 62.88 (n)
  • 55.85 (a)
NDUFAF1 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFAF1 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf1 35
  • 65.45 (n)
  • 62.2 (a)
Str.16729 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3514 35
zebrafish
(Danio rerio)
Actinopterygii ndufaf1 36
  • 51 (a)
OneToOne
ndufaf1 35
  • 63.57 (n)
  • 61.6 (a)
wufk33c03 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000842 35
  • 50.4 (n)
  • 44.93 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7598 36
  • 34 (a)
OneToOne
CG7598 35
  • 53.4 (n)
  • 44.39 (a)
worm
(Caenorhabditis elegans)
Secernentea nuaf-1 35
  • 47.11 (n)
  • 38.78 (a)
nuaf-1 36
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
OneToOne
Species with no ortholog for NDUFAF1:
  • 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)
  • bread mold (Neurospora crassa)
  • 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)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFAF1 Gene

ENSEMBL:
Gene Tree for NDUFAF1 (if available)
TreeFam:
Gene Tree for NDUFAF1 (if available)

Paralogs for NDUFAF1 Gene

Pseudogenes.org Pseudogenes for NDUFAF1 Gene

genes like me logo Genes that share paralogs with NDUFAF1: view

No data available for Paralogs for NDUFAF1 Gene

Variants for NDUFAF1 Gene

Sequence variations from dbSNP and Humsavar for NDUFAF1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1899 - 41,397,034(-) GCTGC(A/G)TGGTA nc-transcript-variant, reference, missense
rs3204853 - 41,396,968(-) TATTC(A/G/T)CTTTG nc-transcript-variant, reference, missense
rs35227875 - 41,396,534(+) AGACT(C/T)CCCGT nc-transcript-variant, reference, missense
rs12900702 - 41,387,487(+) CATAG(C/G/T)CAAAT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs4924544 -- 41,401,257(+) gccac(G/T)gcgcc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFAF1 Gene

Variant ID Type Subtype PubMed ID
nsv524476 CNV Loss 19592680

Variation tolerance for NDUFAF1 Gene

Residual Variation Intolerance Score: 91.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.94; 83.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFAF1 Gene

HapMap Linkage Disequilibrium report
NDUFAF1
Human Gene Mutation Database (HGMD)
NDUFAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFAF1 Gene

Disorders for NDUFAF1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NDUFAF1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFAF1

Genetic Association Database (GAD)
NDUFAF1
Human Genome Epidemiology (HuGE) Navigator
NDUFAF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFAF1
genes like me logo Genes that share disorders with NDUFAF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFAF1 Gene

Publications for NDUFAF1 Gene

  1. CIA30 complex I assembly factor: a candidate for human complex I deficiency? (PMID: 11935339) Janssen R. … van den Heuvel L. (Hum. Genet. 2002) 2 3 4 67
  2. Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients. (PMID: 17383918) Vogel R.O. … Nijtmans L.G. (Mol. Genet. Metab. 2007) 3 23
  3. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. (PMID: 17557076) Dunning C.J. … Ryan M.T. (EMBO J. 2007) 3 23
  4. Human mitochondrial complex I assembly is mediated by NDUFAF1. (PMID: 16218961) Vogel R.O. … Nijtmans L.G. (FEBS J. 2005) 3 23
  5. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3

Products for NDUFAF1 Gene

Sources for NDUFAF1 Gene

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