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Aliases for NDUFAF1 Gene

Aliases for NDUFAF1 Gene

  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 1 2 3
  • CIA30 3 4 6
  • CGI65 3 6
  • 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
  • Complex I Intermediate-Associated Protein 30, Mitochondrial 3
  • CGI-65 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 Dehydrogenase (Ubiquinone) Complex I, 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. 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

Genomic Location for NDUFAF1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 for NDUFAF1 Gene

Gene Families for NDUFAF1 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Suggested Antigen Peptide Sequences for NDUFAF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y375

UniProtKB/Swiss-Prot:

CIA30_HUMAN :
  • Q9Y375
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:0005515 protein binding IPI 17344420
GO:0051082 unfolded protein binding NAS 11935339
genes like me logo Genes that share ontologies with NDUFAF1: view

Animal Model Products

CRISPR Products

miRNA for NDUFAF1 Gene

miRTarBase miRNAs that target NDUFAF1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFAF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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 4

Gene Ontology (GO) - Cellular Components for NDUFAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion --
GO:0005747 mitochondrial respiratory chain complex I NAS 11935339
genes like me logo Genes that share ontologies with NDUFAF1: view

Pathways for NDUFAF1 Gene

SuperPathways for NDUFAF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NDUFAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 11935339
GO:0006461 protein complex assembly NAS 11935339
genes like me logo Genes that share ontologies with NDUFAF1: view

No data available for Pathways by source for NDUFAF1 Gene

Compounds for NDUFAF1 Gene

(1) HMDB Compounds for NDUFAF1 Gene

Compound Synonyms Cas Number PubMed IDs
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFAF1

Primer Products

Flow Cytometry Products

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for NDUFAF1 Gene

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

Integrated Proteomics: protein expression 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 expressions with NDUFAF1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and 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
cow
(Bos Taurus)
Mammalia NDUFAF1 35
  • 87.56 (n)
  • 83.18 (a)
NDUFAF1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFAF1 35
  • 87.56 (n)
  • 84.4 (a)
NDUFAF1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufaf1 35
  • 82.36 (n)
  • 77.98 (a)
Ndufaf1 16
Ndufaf1 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF1 35
  • 99.69 (n)
  • 99.39 (a)
NDUFAF1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufaf1 35
  • 83.79 (n)
  • 80.43 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF1 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAF1 36
  • 62 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii ndufaf1 35
  • 63.57 (n)
  • 61.6 (a)
wufk33c03 35
ndufaf1 36
  • 51 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3514 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000842 35
  • 50.4 (n)
  • 44.93 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7598 35
  • 53.4 (n)
  • 44.39 (a)
CG7598 36
  • 34 (a)
OneToOne
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 MAF
rs1899 Likely benign, - 41,397,034(-) GCTGC(A/G)TGGTA missense, reference, nc-transcript-variant
rs1053052 -- 41,396,555(-) TGAGC(C/T)CTGAG missense, reference, nc-transcript-variant
rs3204853 Likely benign, - 41,396,968(-) TATTC(G/T)CTTTG reference, missense, nc-transcript-variant
rs3743038 -- 41,402,545(+) AACAC(C/T)AAAGT upstream-variant-2KB, utr-variant-5-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

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

(1) OMIM Diseases for NDUFAF1 Gene (606934)

Relevant External Links for NDUFAF1

Genetic Association Database (GAD)
NDUFAF1
Human Genome Epidemiology (HuGE) Navigator
NDUFAF1
genes like me logo Genes that share disorders with NDUFAF1: view

No data available for UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for NDUFAF1 Gene

Publications for NDUFAF1 Gene

  1. 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 4
  2. 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
  3. Human mitochondrial complex I assembly is mediated by NDUFAF1. (PMID: 16218961) Vogel R.O. … Nijtmans L.G. (FEBS J. 2005) 3 23
  4. 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
  5. 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

Products for NDUFAF1 Gene

Sources for NDUFAF1 Gene

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