NDUFAF1 Gene - NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1

Protein Coding (Updated: Aug 30, 2022)
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

  • GeneCards Symbol: NDUFAF1 2
  • NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1 2 3 5
  • CIA30 2 3 4 5
  • CGI-65 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 1 2 3
  • Complex I Intermediate-Associated Protein 30, Mitochondrial 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
  • 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 Complex I biogenesis. Gene Ontology (GO) annotations related to this gene include unfolded protein binding.

UniProtKB/Swiss-Prot Summary for NDUFAF1 Gene

As part of the MCIA complex, involved in the assembly of the mitochondrial complex I. ( CIA30_HUMAN,Q9Y375 )

Gene Wiki entry for NDUFAF1 Gene

Additional gene information for NDUFAF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB Summary , Rfam classification and piRNA Summary for NDUFAF1 Gene

Genomics for NDUFAF1 Gene

GeneHancer (GH) Regulatory Elements (see citations)

Download GeneHancer 2017 data
Promoters and enhancers for NDUFAF1 Gene

GeneHancers around NDUFAF1 on the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr15:41,387,218-41,409,403
(GRCh38/hg38)
Size:
22,186 bases
Orientation:
Minus strand

Previous Assembly
chr15:41,679,551-41,694,694
(GRCh37/hg19 by Entrez Gene)
Size:
15,144 bases
Orientation:
Minus strand

chr15:41,679,551-41,694,717
(GRCh37/hg19 by Ensembl)
Size:
15,167 bases
Orientation:
Minus strand

Genomic View for NDUFAF1 Gene

Genes around NDUFAF1 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19)

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
Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NDUFAF1 Gene

Proteins for NDUFAF1 Gene

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  • 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 that comprises at least the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9 and complement subunits such as COA1 and TMEM186 (PubMed:32320651).
      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).
      Interacts with TMEM70 and TMEM242 (PubMed:33753518).

    Predicted three dimensional structure from AlphaFold

    Q9Y375

neXtProt entry for NDUFAF1 Gene

Protein Expression for NDUFAF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NDUFAF1 Gene

  • Modification sites at PhosphoSitePlus
    Q9Y375
  • Modification sites at neXtProt
    NX_Q9Y375

Other Protein References for NDUFAF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for NDUFAF1
  • Biorbyt antibodies for NDUFAF1

Protein products for research

  • Abcam proteins for NDUFAF1

No data available for DME Specific Peptides for NDUFAF1 Gene

Domains & Families for NDUFAF1 Gene

Gene Families for NDUFAF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Human disease related genes
  • Predicted intracellular proteins

Protein Domains for NDUFAF1 Gene

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

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 that share domains with NDUFAF1: view

Function for NDUFAF1 Gene

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  6. Cell Lines for research

Molecular function for NDUFAF1 Gene according to UniProtKB/Swiss-Prot

Function:
  • As part of the MCIA complex, involved in the assembly of the mitochondrial complex I. CIA30_HUMAN,Q9Y375

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 3 5 enables protein binding IPI 17344420
GO:0051082 3 5 enables unfolded protein binding IBA, NAS, IBA 11935339
Genes that share ontologies with NDUFAF1: view
Genes that share phenotypes with NDUFAF1: view

Human Phenotype Ontology for NDUFAF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms
HP:0000007 Autosomal recessive inheritance HP:0001526 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive; Autosomal recessive form; Autosomal recessive predisposition
HP:0000077 Abnormality of the kidney An abnormality of the kidney. Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly
HP:0000079 Abnormality of the urinary system An abnormality of the urinary system. Urinary tract abnormalities; Urinary tract abnormality; Urinary tract anomalies
HP:0000114 Proximal tubulopathy HP:0000806 Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. Proximal renal tubule defect; Proximal renal tubulopathy; Proximal tubular defect; Proximal tubule dysfunction; Selective proximal tubular damage
HP:0000119 Abnormality of the genitourinary system HP:0008713 The presence of any abnormality of the genitourinary system. Abnormality of the GU system; Genitourinary abnormality; Genitourinary disease; Genitourinary dysplasia; Genitourinary tract anomalies; Genitourinary tract malformation; Urogenital abnormalities; Urogenital anomalies

miRNA for NDUFAF1 Gene

miRTarBase miRNAs that target NDUFAF1

miRNA products for research

No data available for Enzyme Numbers (IUBMB) , Animal Models , NCBI Functional elements , Transcription Factor Targeted Genes 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
cytosol 5
mitochondrion 5
nucleus 2
lysosome 1
endoplasmic reticulum 1
peroxisome 1
cytoskeleton 1
extracellular 1
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 3 5 located_in mitochondrion IDA, IBA, IDA 16218961
GO:0005743 3 5 located_in mitochondrial inner membrane TAS, IC, TAS
GO:0005747 3 5 part_of mitochondrial respiratory chain complex I NAS 11935339
GO:0005759 3 5 located_in mitochondrial matrix IEA
GO:0005829 3 5 located_in cytosol IDA
Genes that share ontologies with NDUFAF1: view

Pathways & Interactions for NDUFAF1 Gene

Genes that share pathways with NDUFAF1: view

Additional Pathway Information for NDUFAF1 Gene

Interacting Proteins for NDUFAF1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network for NDUFAF1
Selected Interacting proteins: Q9Y375-CIA30_HUMAN ENSP00000260361 for NDUFAF1 Gene via UniProtKB MINT STRING IID

Symbol External ID(s) Details
MT-ND1
NDUFA6
NDUFA9
NDUFB6
NDUFS3
NDUFS5
NDUFS7
ACAD9
ATAD3B
CLPP
COA3
ECSIT
FAS
HSCB
HSPD1
LPAR1
MARVELD2
MRPL1
NDUFA10
NDUFA12
NDUFA13
NDUFA3
NDUFA4
NDUFA8
NDUFAF3
GPS-Prot Interaction Network for NDUFAF1

Gene Ontology (GO) - Biological Process for NDUFAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 3 5 involved_in mitochondrial electron transport, NADH to ubiquinone IBA, NAS, NAS 11935339
GO:0010257 3 5 involved_in NADH dehydrogenase complex assembly IBA 21873635
GO:0032981 3 5 involved_in mitochondrial respiratory chain complex I assembly IMP, IBA, IC, IC 16218961
GO:0051131 3 5 involved_in chaperone-mediated protein complex assembly IDA 17344420
GO:0065003 3 5 involved_in protein-containing complex assembly NAS 11935339
Genes that share ontologies with NDUFAF1: view

No data available for SIGNOR curated interactions for NDUFAF1 Gene

Drugs & Compounds for NDUFAF1 Gene

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(4) Drugs for NDUFAF1 Gene - From: DGIdb and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metformin 93 Approved 23 Pharma Inhibitor Anti-diabetic drug, Small Molecule, Hypoglycemic Agents
NADH 24 Approved Nutra
ME-344 93 Investigational 23 Pharma Inhibitor
NV-128 93 Pharma Inhibitor
Genes that share compounds with NDUFAF1: view

Transcripts for NDUFAF1 Gene

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mRNA/cDNA for NDUFAF1 Gene

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

miRNA products for research

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

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFAF1 Gene

mRNA expression in normal human tissues for NDUFAF1 Gene
mRNA expression by GTEx for NDUFAF1 GenemRNA expression by BioGPS 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(4.4)
  • Muscle(2.4)
  • Nervous system(2.4)
  • Heart(2.3)
  • Kidney(2.2)

Bgee gene expression patterns for NDUFAF1 gene:

  • Expressed in apex of heart, gastrocnemius, hindlimb stylopod muscle and 193 other tissues.

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 that share expression patterns with NDUFAF1: view

Primer products for research

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 28 29
  • 99.69 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NDUFAF1 28 29
  • 87.56 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NDUFAF1 28 29
  • 87.56 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ndufaf1 28
  • 83.79 (n)
Mouse
(Mus musculus)
 Mammalia Ndufaf1 28 16 29
  • 82.36 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia NDUFAF1 29
  • 63 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia NDUFAF1 29
  • 62 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves NDUFAF1 28 29
  • 62.88 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NDUFAF1 29
  • 55 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ndufaf1 28
  • 65.45 (n)
Str.16729 28
Zebrafish
(Danio rerio)
 Actinopterygii ndufaf1 28 29
  • 63.57 (n)
 OneToOne
wufk33c03 28
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3514 28
Fruit Fly
(Drosophila melanogaster)
 Insecta CG7598 28 29 30
  • 53.4 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000842 28
  • 50.4 (n)
Worm
(Caenorhabditis elegans)
 Secernentea nuaf-1 28 29
  • 47.11 (n)
 OneToOne
C50B8.3 30
  • 36 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 29
  • 20 (a)
 OneToOne
Species where no ortholog for NDUFAF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for NDUFAF1

Paralogs for NDUFAF1 Gene

Pseudogenes.org Pseudogenes for NDUFAF1 Gene

Genes that share paralogs with NDUFAF1: view

No data available for Paralogs for NDUFAF1 Gene

Variants for NDUFAF1 Gene

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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
rs1064793767 5 109

Pathogenic: not provided

41,396,527(-) GT/GNM_016013.4(NDUFAF1):c.532del (p.Thr178fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
rs376344575 5 4 109

Pathogenic: Mitochondrial Complex I Deficiency, Nuclear Type 11

Uncertain Significance: not provided

Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234] 		41,394,885(-) p.Gly245Arg
C/TNM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs387906956 5 4 109

Pathogenic: Mitochondrial Complex I Deficiency, Nuclear Type 11

Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234] 		41,394,999(-) p.Thr207Pro
T/GNM_016013.4(NDUFAF1):c.619A>C (p.Thr207Pro)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs387906957 5 4 109

Pathogenic: Mitochondrial Complex I Deficiency, Nuclear Type 11

Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234] 		41,394,860(-) p.Lys253Arg
T/CNM_016013.4(NDUFAF1):c.758A>G (p.Lys253Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs387906958 5 4 109

Pathogenic: Mitochondrial Complex I Deficiency, Nuclear Type 11

Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234] 		41,394,987(-) p.Arg211Cys
G/ANM_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NDUFAF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
nsv4243854 CNV deletion 32461652
nsv4241401 CNV duplication 32461652
nsv4241749 CNV deletion 32461652
nsv524476 CNV loss 19592680
nsv569232 CNV loss 21841781
nsv4512155 CNV alu insertion 32461652
nsv4242523 CNV duplication 32461652
nsv1122953 CNV deletion 24896259
SVs/CNVs around NDUFAF1 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19)

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
Leiden Open Variation Database (LOVD)
NDUFAF1

SNP Genotyping and Copy Number Assays for research

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

Disorders for NDUFAF1 Gene

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

Disorder Aliases PubMed IDs
Mitochondrial Complex I Deficiency, Nuclear Type 11 1 4 6 101 109
  • MC1DN11
  • Mitochondrial Complex 1 Deficiency, Nuclear Type 11
  • Nuclear Type Mitochondrial Complex I Deficiency 11
 17557076 21931170
Mitochondrial Complex I Deficiency, Nuclear Type 1 64 99
  • Mitochondrial Complex I Deficiency
  • Nadh:Q(1) Oxidoreductase Deficiency
  • MC1DN1
  • Nadh-Coenzyme Q Reductase Deficiency
  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency
  • Isolated Nadh-Coenzyme Q Reductase Deficiency
  • Isolated Nadh-Coq Reductase Deficiency
  • Isolated Nadh-Ubiquinone Reductase Deficiency
  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of
  • Nuclear Type Mitochondrial Complex I Deficiency 1
  • Isolated Complex I Deficiency
  • Complex 1 Mitochondrial Respiratory Chain Deficiency
  • Nadh Coenzyme Q Reductase Deficiency
  • Complex I Mitochondrial Respiratory Chain Deficiency
  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I
  • Nadh:Ubiquinone Oxidoreductase Deficiency
  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of
 17557076
Peroxisome Biogenesis Disorder 4a 64
  • PBD4A
  • Peroxisome Biogenesis Disorder Complementation Group 4
  • PBD-CG4
  • Cg4
  • Pbd-Cg6
  • Pbd-Cgc
  • Peroxisome Biogenesis Disorder Complementation Group 6
  • Peroxisome Biogenesis Disorder Complementation Group C
  • Peroxisome Biogenesis Disorder, Type 4a
Leukodystrophy 1 64
  • Leukodystrophies
Leigh Syndrome 1 64
  • Leigh Disease
  • Infantile Subacute Necrotizing Encephalopathy
  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
  • LS
  • Sne
  • Leigh'S Disease
  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency
  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
  • Subacute Necrotizing Encephalomyelopathy
  • Necrotizing Encephalopathy Infantile Subacute Of Leigh
  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
  • Infantile Necrotizing Encephalomyelopathy
  • Juvenile Subacute Necrotizing Encephalomyelopathy
  • Leigh'S Necrotizing Encephalopathy
  • Subacute Necrotizing Encephalopathy
  • Juvenile Subacute Necrotizing Encephalopathy
  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency
  • Encephalopathy, Subacute Necrotizing, Infantile
  • Encephalopathy, Subacute Necrotizing, Juvenile
  • Maternally Inherited Leigh Syndrome
  • Subacute Necrotising Encephalomyelopathy
  • Subacute Necrotising Encephalopathy
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for NDUFAF1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
Cancer Target Discovery and Development
(CTD² Dashboard)
The FABRIC Cancer Portal
(FABRIC)
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 21 69
  2. 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 69
  3. Human mitochondrial complex I assembly is mediated by NDUFAF1. (PMID: 16218961) Vogel RO … Nijtmans LG (The FEBS journal 2005) 3 4 21
  4. 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
  5. 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

Products for NDUFAF1 Gene

  • Biorbyt antibodies for NDUFAF1

Sources for NDUFAF1 Gene