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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
  • Complex I Intermediate-Associated Protein 30, Mitochondrial 3
  • 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

Additional gene information for NDUFAF1 Gene

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

Genomics for NDUFAF1 Gene

Regulatory Elements for NDUFAF1 Gene

Enhancers for NDUFAF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H041409 1.4 FANTOM5 Ensembl ENCODE 81.2 -7.3 -7347 1 HDAC1 ATF1 TBL1XR1 ARNT ZBTB40 TCF12 GATA2 ATF7 CREM SMARCA5 NDUFAF1 ZFYVE19 INO80 RTF1 GC15M041450
GH15H041401 1.2 ENCODE 83.2 +0.1 55 1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CBX5 NDUFAF1 INO80 DNAJC17 MGA ENSG00000259211 GANC BAHD1 VPS39 LOC105370795 RPAP1
GH15H041481 1.2 Ensembl ENCODE dbSUPER 81.4 -80.3 -80252 2 PKNOX1 MAZ CBFB BACH1 DPF2 RELA TARDBP IKZF1 RUNX3 IKZF2 NDUFAF1 RTF1 ZFYVE19 LOC105370790 RNU6-1169P
GH15H041416 1 ENCODE 93 -14.8 -14752 2 ATF1 MLX ARID4B SIN3A DMAP1 GTF3C2 ZNF143 SP3 SP5 MXD4 NDUFAF1 INO80 DNAJC17 LOC105370795 ENSG00000259211 GANC BAHD1 MGA RPAP1 VPS39
GH15H041492 1.7 FANTOM5 ENCODE dbSUPER 52.4 -92.3 -92266 5 FOXA2 ZFP64 SIN3A ARID4B DMAP1 ZNF2 YY1 SLC30A9 ZNF766 SP3 NDUFAF1 MGA RPAP1 RTF1 RAD51-AS1 INO80 ENSG00000260814 DNAJC17 LOC105370795 GANC
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFAF1 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075633 54 1801 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CBX5

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

Post-translational modifications for NDUFAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFAF1 Gene

No data available for DME Specific Peptides for NDUFAF1 Gene

Domains & Families for NDUFAF1 Gene

Gene 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).

Phenotypes From GWAS Catalog for NDUFAF1 Gene

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
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NDUFAF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 NDUFAF1 gene
Compartment Confidence
mitochondrion 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 11935339
GO:0005829 cytosol IDA --
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:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 11935339
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NDUFAF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NDUFAF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of NDUFAF1 Gene:

NDUFAF1

SOURCE GeneReport for Unigene cluster for NDUFAF1 Gene:

Hs.106529

mRNA Expression by UniProt/SwissProt for NDUFAF1 Gene:

Q9Y375-CIA30_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for NDUFAF1 Gene

  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFAF1 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:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFAF1: view

Primer 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 34 33
  • 99.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFAF1 34 33
  • 87.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFAF1 34 33
  • 87.56 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufaf1 33
  • 83.79 (n)
mouse
(Mus musculus)
Mammalia Ndufaf1 16 34 33
  • 82.36 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF1 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAF1 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFAF1 34 33
  • 62.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFAF1 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf1 33
  • 65.45 (n)
Str.16729 33
zebrafish
(Danio rerio)
Actinopterygii ndufaf1 33 34
  • 63.57 (n)
wufk33c03 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3514 33
fruit fly
(Drosophila melanogaster)
Insecta CG7598 33 34
  • 53.4 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000842 33
  • 50.4 (n)
worm
(Caenorhabditis elegans)
Secernentea nuaf-1 33 34
  • 47.11 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
OneToOne
Species where no ortholog for NDUFAF1 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)
  • 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
rs387906956 Pathogenic 41,394,999(-) TCAAT(A/C)CTCTG nc-transcript-variant, reference, missense
rs387906957 Pathogenic 41,394,860(-) GGTCA(A/G)GGTAA nc-transcript-variant, reference, missense
rs387906958 Pathogenic 41,394,987(-) ATCTC(C/T)GTGTA nc-transcript-variant, reference, missense
rs863224089 Pathogenic 41,397,058(-) TACCA(C/T)GGCTT nc-transcript-variant, reference, missense
rs780401493 Likely pathogenic 41,394,968(+) AAGGC(C/T)GACCA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv2580n100 CNV gain 25217958
nsv1039283 CNV gain 25217958
nsv524476 CNV loss 19592680
nsv569232 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
NDUFAF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFAF1

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

Disorders for NDUFAF1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency
  • fatal infantile hcm due to mitochondrial complex i deficiency
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
mitochondrial metabolism disease
  • mitochondrial diseases
- 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 (Human genetics 2002) 2 3 4 60
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 60
  3. Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. (PMID: 20816094) Nouws J … Vogel RO (Cell metabolism 2010) 3 4 60
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  5. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 45 60

Products for NDUFAF1 Gene

Sources for NDUFAF1 Gene

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