The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I.... See more...

Aliases for NDUFA1 Gene

Aliases for NDUFA1 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A1 2 3 5
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1, 7.5kDa 2 3
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 1 3 4
  • NADH-Ubiquinone Oxidoreductase MWFE Subunit 3 4
  • NADH:Ubiquinone Oxidoreductase (Complex 1) 2 3
  • Complex I MWFE Subunit 2 3
  • Type I Dehydrogenase 2 3
  • CI-MWFE 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1 (7.5kD, MWFE) 2
  • Complex I-MWFE 4
  • MC1DN12 3
  • ZNF183 3
  • MWFE 3

External Ids for NDUFA1 Gene

Previous GeneCards Identifiers for NDUFA1 Gene

  • GC0XP113823
  • GC0XP115991
  • GC0XP116980
  • GC0XP117759
  • GC0XP117758
  • GC0XP118787
  • GC0XP118889
  • GC0XP119005
  • GC0XP108498

Summaries for NDUFA1 Gene

Entrez Gene Summary for NDUFA1 Gene

  • The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008]

GeneCards Summary for NDUFA1 Gene

NDUFA1 (NADH:Ubiquinone Oxidoreductase Subunit A1) is a Protein Coding gene. Diseases associated with NDUFA1 include Mitochondrial Complex I Deficiency, Nuclear Type 12 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 NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot Summary for NDUFA1 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Gene Wiki entry for NDUFA1 Gene

Additional gene information for NDUFA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFA1 Gene

Genomics for NDUFA1 Gene

GeneHancer (GH) Regulatory Elements for NDUFA1 Gene

Promoters and enhancers for NDUFA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ119869 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 -0.2 -170 4.8 GTF3C2 ZBTB40 SIX5 POLR2A CREB1 HCFC1 ZNF362 MYC NFYC ELF1 RNF113A NDUFA1 CUL4B NKAPP1 UPF3B EEF1A1P30 SLC25A5-AS1 NKRF NKAP RF00017-8657
GH0XJ119753 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas 16.8 -114.4 -114361 7.6 SP1 CTCF ZBTB6 NR2F1 NR2F6 MYC ETV6 RELA L3MBTL2 MAX SOWAHD RNF113A NDUFA1 MIR766 UPF3B SEPTIN6 ZBTB33 HSALNG0139786 piR-50406
GH0XJ119821 Enhancer 0.7 Ensembl ENCODE 13.2 -50.1 -50125 1.9 SP1 ZNF384 RFX1 ELF1 FOXA2 NBN ATF7 FOXK2 LOC100422368 NDUFA1 RNF113A UPF3B ENSG00000286366 RF00017-8655
GH0XJ119762 Enhancer 0.6 ENCODE 11.8 -108.4 -108385 1.3 ZNF121 CEBPG IKZF1 CEBPA IKZF2 ELF1 USF1 PRDM4 ZFHX2 CEBPB UPF3B NKAPP1 LINC01402 NDUFA1 RNF113A CXorf56 SLC25A43 HSALNG0139786 SNORA69
GH0XJ119769 Enhancer 0.5 FANTOM5 12.5 -102.3 -102270 0.4 MAFK SP2 ZNF316 EMSY RHOXF1 NDUFA1 RNF113A AKAP14 UPF3B HSALNG0139786 SNORA69 RF00017-8655
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NDUFA1 gene promoter:
  • AhR
  • AML1a
  • C/EBPalpha
  • Chx10
  • MZF-1
  • POU2F1a
  • STAT3
  • YY1

Genomic Locations for NDUFA1 Gene

Genomic Locations for NDUFA1 Gene
chrX:119,871,771-119,876,666
(GRCh38/hg38)
Size:
4,896 bases
Orientation:
Plus strand
chrX:119,005,450-119,010,629
(GRCh37/hg19)
Size:
5,180 bases
Orientation:
Plus strand

Genomic View for NDUFA1 Gene

Genes around NDUFA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA1 Gene

Proteins for NDUFA1 Gene

  • Protein details for NDUFA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15239-NDUA1_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
    Protein Accession:
    O15239

    Protein attributes for NDUFA1 Gene

    Size:
    70 amino acids
    Molecular mass:
    8072 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFA1 Gene

neXtProt entry for NDUFA1 Gene

Post-translational modifications for NDUFA1 Gene

  • Ubiquitination at Lys64
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFA1 Gene

Domains & Families for NDUFA1 Gene

Gene Families for NDUFA1 Gene

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

Protein Domains for NDUFA1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA1 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase MWFE subunit (NDUA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15239

UniProtKB/Swiss-Prot:

NDUA1_HUMAN :
  • Belongs to the complex I NDUFA1 subunit family.
Family:
  • Belongs to the complex I NDUFA1 subunit family.
genes like me logo Genes that share domains with NDUFA1: view

Function for NDUFA1 Gene

Molecular function for NDUFA1 Gene

UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),7.5kDa,component alpha 1,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),homologous to bovine MWFE subunit of complex I essential for an active complex I,not mutated in complex I deficiency

Gene Ontology (GO) - Molecular Function for NDUFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS,TAS 9878551
genes like me logo Genes that share ontologies with NDUFA1: view
genes like me logo Genes that share phenotypes with NDUFA1: view

Human Phenotype Ontology for NDUFA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for NDUFA1 Gene

miRTarBase miRNAs that target NDUFA1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA1 Gene

Localization for NDUFA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA1 Gene

Mitochondrion inner membrane; Single-pass membrane protein; Matrix side.

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 NDUFA1 gene
Compartment Confidence
mitochondrion 5
cytosol 4
extracellular 1
nucleus 1
endoplasmic reticulum 1
plasma membrane 0
peroxisome 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 16729965
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFA1: view

Pathways & Interactions for NDUFA1 Gene

genes like me logo Genes that share pathways with NDUFA1: view

Gene Ontology (GO) - Biological Process for NDUFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFA1: view

No data available for SIGNOR curated interactions for NDUFA1 Gene

Drugs & Compounds for NDUFA1 Gene

(6) Drugs for NDUFA1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Iron Approved, Experimental Pharma 1452
NAD Experimental Pharma Full agonist, Agonist, Activator 0
Ubiquinone-1 Experimental Pharma 0

(2) Additional Compounds for NDUFA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
genes like me logo Genes that share compounds with NDUFA1: view

Transcripts for NDUFA1 Gene

mRNA/cDNA for NDUFA1 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(359) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA1 Gene

No ASD Table

Relevant External Links for NDUFA1 Gene

GeneLoc Exon Structure for
NDUFA1
ECgene alternative splicing isoforms for
NDUFA1

Expression for NDUFA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDUFA1 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.3).

Protein differential expression in normal tissues from HIPED for NDUFA1 Gene

This gene is overexpressed in Heart (31.3) and Frontal cortex (16.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFA1 Gene



NURSA nuclear receptor signaling pathways regulating expression of NDUFA1 Gene:

NDUFA1

SOURCE GeneReport for Unigene cluster for NDUFA1 Gene:

Hs.534168

mRNA Expression by UniProt/SwissProt for NDUFA1 Gene:

O15239-NDUA1_HUMAN
Tissue specificity: Primarily expressed in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for NDUFA1 Gene

  • Liver(4.6)
  • Eye(4.3)
  • Muscle(3.7)
  • Heart(3.5)
  • Nervous system(2.9)
  • Kidney(2.3)
  • Intestine(2.1)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA1 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 NDUFA1: view

No data available for Protein tissue co-expression partners for NDUFA1 Gene

Orthologs for NDUFA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFA1 33 32
  • 99.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFA1 33 32
  • 85.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC102154035 32
  • 85.71 (n)
mouse
(Mus musculus)
Mammalia Ndufa1 17 33 32
  • 81.43 (n)
rat
(Rattus norvegicus)
Mammalia Ndufa1 32
  • 80.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA1 33
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 67 (a)
OneToMany
-- 33
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves NDUFA1 33 32
  • 67.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFA1 33
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa1 32
  • 67.14 (n)
zebrafish
(Danio rerio)
Actinopterygii ndufa1 33 32
  • 63.29 (n)
OneToOne
Species where no ortholog for NDUFA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for NDUFA1 Gene

ENSEMBL:
Gene Tree for NDUFA1 (if available)
TreeFam:
Gene Tree for NDUFA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFA1: view image

Paralogs for NDUFA1 Gene

(1) SIMAP similar genes for NDUFA1 Gene using alignment to 1 proteins:

  • NDUA1_HUMAN

Pseudogenes.org Pseudogenes for NDUFA1 Gene

genes like me logo Genes that share paralogs with NDUFA1: view

No data available for Paralogs for NDUFA1 Gene

Variants for NDUFA1 Gene

Sequence variations from dbSNP and Humsavar for NDUFA1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs104894884 pathogenic, MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12, Mitochondrial complex I deficiency, nuclear type 12 (MC1DN12) [MIM:301020] 119,871,933(+) G/C coding_sequence_variant, missense_variant
rs104894885 pathogenic, MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12, Mitochondrial complex I deficiency, nuclear type 12 (MC1DN12) [MIM:301020] 119,873,312(+) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs1257734702 A colorectal cancer sample 119,873,358(+) C/T coding_sequence_variant, missense_variant
rs140064980 benign, likely-benign, not specified, History of neurodevelopmental disorder 119,873,342(+) G/C coding_sequence_variant, synonymous_variant
rs1801316 uncertain-significance, benign, Mitochondrial complex I deficiency, not specified, not provided, History of neurodevelopmental disorder, - 119,872,005(+) G/A/C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFA1 Gene

Variant ID Type Subtype PubMed ID
esv2758888 CNV gain 17122850
nsv7057 CNV insertion 18451855

Variation tolerance for NDUFA1 Gene

Residual Variation Intolerance Score: 64.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.11; 2.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFA1 Gene

Human Gene Mutation Database (HGMD)
NDUFA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA1 Gene

Disorders for NDUFA1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for NDUFA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUA1_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 12 (MC1DN12) [MIM:301020]: 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. {ECO:0000269 PubMed:17262856}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFA1

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 NDUFA1: view

No data available for Genatlas for NDUFA1 Gene

Publications for NDUFA1 Gene

  1. Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I. (PMID: 8938439) Zhuchenko O … Lee CC (Genomics 1996) 2 3 4 23 56
  2. X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. (PMID: 17262856) Fernandez-Moreira D … Arenas J (Annals of neurology 2007) 3 4 23 56
  3. Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25. (PMID: 9224902) Frattini A … Vezzoni P (Gene 1997) 3 4 23 56
  4. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 56
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 43 56

Products for NDUFA1 Gene

Sources for NDUFA1 Gene