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Aliases for NDUFA1 Gene

Aliases for NDUFA1 Gene

  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1, 7.5kDa 2 3
  • 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
  • Complex I-MWFE 3 4
  • CI-MWFE 3 4
  • MWFE 3 6
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1 (7.5kD, MWFE) 2
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 1 3
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex 2
  • NADH Oxidoreductase Subunit MWFE 3
  • 1 (7.5kD 2
  • ZNF183 3
  • MWFE) 2

External Ids for NDUFA1 Gene

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 Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1, 7.5kDa) is a Protein Coding gene. Diseases associated with NDUFA1 include mitochondrial complex i deficiency and leigh syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA1 Gene

Genomics for NDUFA1 Gene

Genomic Location for NDUFA1 Gene

Start:
119,871,487 bp from pter
End:
119,876,666 bp from pter
Size:
5,180 bases
Orientation:
Plus strand

Genomic View for NDUFA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA1 Gene

Regulatory Elements 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
    Secondary Accessions:

    Protein attributes for NDUFA1 Gene

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

neXtProt entry for NDUFA1 Gene

Proteomics data for NDUFA1 Gene at MOPED

Post-translational modifications for NDUFA1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys64

Other Protein References for NDUFA1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFA1 Gene

Domains for NDUFA1 Gene

Gene Families for NDUFA1 Gene

HGNC:
  • comI :Mitochondrial respiratory chain complex / Complex I

Protein Domains for NDUFA1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

NDUA1_HUMAN
Family:
  • Belongs to the complex I NDUFA1 subunit family.:
    • O15239
genes like me logo Genes that share domains with NDUFA1: view

Function for NDUFA1 Gene

Molecular function for NDUFA1 Gene

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
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

Gene Ontology (GO) - Molecular Function for NDUFA1 Gene

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

Phenotypes for NDUFA1 Gene

GenomeRNAi human phenotypes for NDUFA1:
genes like me logo Genes that share phenotypes with NDUFA1: view

miRNA for NDUFA1 Gene

miRTarBase miRNAs that target NDUFA1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for NDUFA1 Gene COMPARTMENTS Subcellular localization image for NDUFA1 gene
Compartment Confidence
mitochondrion 5
chloroplast 2
extracellular 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
peroxisome 1
plasma membrane 1

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:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IDA 17209039
genes like me logo Genes that share ontologies with NDUFA1: view

Pathways for NDUFA1 Gene

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

Interacting Proteins for NDUFA1 Gene

Gene Ontology (GO) - Biological Process for NDUFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 9878551
GO:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with NDUFA1: view

Compounds for NDUFA1 Gene

(8) HMDB Compounds for NDUFA1 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Iron
  • Armco iron
7439-89-6
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
QH2
  • CoQH2
56275-39-9

(1) Drugbank Compounds for NDUFA1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target
genes like me logo Genes that share compounds with NDUFA1: view

Transcripts for NDUFA1 Gene

mRNA/cDNA for NDUFA1 Gene

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

Unigene Clusters for NDUFA1 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa:
Representative Sequences:

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 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 (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFA1 Gene

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

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 36
  • 99.52 (n)
  • 98.57 (a)
NDUFA1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFA1 36
  • 85.71 (n)
  • 80 (a)
NDUFA1 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC102154035 36
  • 85.71 (n)
  • 81.43 (a)
mouse
(Mus musculus)
Mammalia Ndufa1 36
  • 81.43 (n)
  • 82.86 (a)
Ndufa1 16
Ndufa1 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 67 (a)
OneToMany
-- 37
  • 66 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA1 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa1 36
  • 80.48 (n)
  • 82.86 (a)
chicken
(Gallus gallus)
Aves NDUFA1 36
  • 67.62 (n)
  • 72.86 (a)
NDUFA1 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFA1 37
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa1 36
  • 67.14 (n)
  • 68.57 (a)
zebrafish
(Danio rerio)
Actinopterygii ndufa1 36
  • 63.29 (n)
  • 66.67 (a)
ndufa1 37
  • 65 (a)
OneToOne
Species with no ortholog for NDUFA1:
  • 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)

Paralogs for NDUFA1 Gene

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

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 Sequence Context AA Info Type MAF
rs1541341 -- 119,875,273(+) CCTGG(A/G)CTATG intron-variant
rs2285553 -- 119,876,464(+) CATAT(A/C)TTTGA intron-variant
rs3795193 -- 119,869,837(-) TGCCT(C/T)GGCCT upstream-variant-2KB
rs4268244 -- 119,875,193(+) GATTT(C/T)TAAGA intron-variant
rs4825679 -- 119,875,396(+) cttgg(C/G)tcact intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2468e1 CNV Complex 17122850
dgv2469e1 CNV Complex 17122850
nsv7057 CNV Insertion 18451855

Relevant External Links for NDUFA1 Gene

HapMap Linkage Disequilibrium report
NDUFA1
Human Gene Mutation Database (HGMD)
NDUFA1
Locus Specific Mutation Databases (LSDB)
NDUFA1

Disorders for NDUFA1 Gene

(1) OMIM Diseases for NDUFA1 Gene (300078)

UniProtKB/Swiss-Prot

NDUA1_HUMAN
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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.

(6) Novoseek inferred disease relationships for NDUFA1 Gene

Disease -log(P) Hits PubMed IDs
leigh syndrome 81 1
mitochondrial diseases 75.1 1
mitochondrial encephalomyopathies 72.3 2
lebers hereditary optic neuropathy 71.2 1
optic neuropathy 66.6 1

Relevant External Links for NDUFA1

Genetic Association Database (GAD)
NDUFA1
Human Genome Epidemiology (HuGE) Navigator
NDUFA1
genes like me logo Genes that share disorders with NDUFA1: view

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 C.C. (Genomics 1996) 2 3 4 23
  2. 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
  3. X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. (PMID: 17262856) Fernandez-Moreira D. … Arenas J. (Ann. Neurol. 2007) 3 4 23
  4. A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. (PMID: 19185523) Potluri P. … Procaccio V. (Mol. Genet. Metab. 2009) 3 23
  5. Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma. (PMID: 15854127) Mamelak A.J. … Sauder D.N. (Exp. Dermatol. 2005) 3 23

Products for NDUFA1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate NDUFA1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFA1
    • Block miRNA regulation of NDUFA1 using miScript Target Protectors

    Sources for NDUFA1 Gene

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