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 mutat... See more...

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
  • Complex I Intermediate-Associated Protein 30, Mitochondrial 3 4
  • 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
  • MC1DN11 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 Mitochondrial Complex I Deficiency, Nuclear Type 11 and Mitochondrial Complex I Deficiency, Nuclear Type 1. 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 unfolded protein binding.

UniProtKB/Swiss-Prot Summary for NDUFAF1 Gene

  • Chaperone protein involved in early stages of the assembly of 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 , Rfam classification and piRNA Summary for NDUFAF1 Gene

Genomics for NDUFAF1 Gene

GeneHancer (GH) Regulatory Elements for NDUFAF1 Gene

Promoters and enhancers for NDUFAF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFAF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFAF1

Top Transcription factor binding sites by QIAGEN in the NDUFAF1 gene promoter:
  • E2F
  • E2F-1
  • HOXA3
  • NF-1
  • NF-kappaB
  • NF-kappaB1
  • Nkx6-1
  • p53
  • SRY

Genomic Locations for NDUFAF1 Gene

Genomic Locations for NDUFAF1 Gene
chr15:41,387,349-41,402,554
(GRCh38/hg38)
Size:
15,206 bases
Orientation:
Minus strand
chr15:41,679,551-41,694,717
(GRCh37/hg19)
Size:
15,167 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, NDUFAF1, ECSIT, and ACAD9 (By similarity). Interacts with ECSIT (PubMed:17344420). Interacts with ACAD9 (PubMed:20816094). At early stages of complex I assembly, it is found in intermediate subcomplexes that contain different subunits including NDUFB6, NDUFA6, NDUFA9, NDUFS3, NDUFS7, ND1, ND2 and ND3 (PubMed:17557076).

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

Protein Domains for NDUFAF1 Gene

Blocks:
  • NADH:ubiquinone oxidoreductase complex I intermediate-associated protein 30
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFAF1 Gene

GenScript: Design optimal peptide antigens:
  • NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1 (CIA30_HUMAN)

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 early stages of the assembly of 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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. Mitochondrion matrix. Note=Peripherally associated with the matrix face of the mitochondrial inner membrane. {ECO:0000305 PubMed:17557076}.

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
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

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 IBA,IDA 16218961
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 11935339
GO:0005759 mitochondrial matrix IEA --
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:0032981 mitochondrial respiratory chain complex I assembly IEA,TAS --
GO:0065003 protein-containing complex assembly NAS 11935339
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 Approved Nutra 0
genes like me logo Genes that share compounds with NDUFAF1: view

Transcripts for NDUFAF1 Gene

mRNA/cDNA for NDUFAF1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFAF1

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

No ASD Table

Relevant External Links for NDUFAF1 Gene

GeneLoc Exon Structure for
NDUFAF1

Expression for NDUFAF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for NDUFAF1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 99.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFAF1 31 30
  • 87.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFAF1 31 30
  • 87.56 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufaf1 30
  • 83.79 (n)
mouse
(Mus musculus)
Mammalia Ndufaf1 17 31 30
  • 82.36 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF1 31
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAF1 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFAF1 31 30
  • 62.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFAF1 31
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf1 30
  • 65.45 (n)
Str.16729 30
zebrafish
(Danio rerio)
Actinopterygii ndufaf1 31 30
  • 63.57 (n)
OneToOne
wufk33c03 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3514 30
fruit fly
(Drosophila melanogaster)
Insecta CG7598 31 30
  • 53.4 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000842 30
  • 50.4 (n)
worm
(Caenorhabditis elegans)
Secernentea nuaf-1 31 30
  • 47.11 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFAF1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFAF1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
711134 Likely Benign: not provided 41,387,502(-) T/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
752744 Likely Benign: not provided 41,395,036(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
794640 Benign: not provided 41,396,913(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
799873 Likely Benign: not provided 41,397,000(-) T/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs1057524062 Likely Benign: not specified 41,397,134(-) A/G NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFAF1 Gene

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)

Additional Variant Information 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

(9) MalaCards diseases for NDUFAF1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CIA30_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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. MC1DN11 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:17557076, ECO:0000269 PubMed:21931170}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFAF1

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

No data available for Genatlas for NDUFAF1 Gene

Publications for NDUFAF1 Gene

  1. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. (PMID: 17557076) Dunning CJ … Ryan MT (The EMBO journal 2007) 3 4 23 54
  2. Human mitochondrial complex I assembly is mediated by NDUFAF1. (PMID: 16218961) Vogel RO … Nijtmans LG (The FEBS journal 2005) 3 4 23 54
  3. 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 54
  4. 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 54
  5. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. (PMID: 21931170) Fassone E … Rahman S (Journal of medical genetics 2011) 3 4 54

Products for NDUFAF1 Gene

Sources for NDUFAF1 Gene