Human Gene NDUFA1 (ENST00000371437.5) from GENCODE V44
  Description: Homo sapiens NADH:ubiquinone oxidoreductase subunit A1 (NDUFA1), mRNA. (from RefSeq NM_004541)
RefSeq Summary (NM_004541): 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].
Gencode Transcript: ENST00000371437.5
Gencode Gene: ENSG00000125356.7
Transcript (Including UTRs)
   Position: hg38 chrX:119,871,832-119,876,662 Size: 4,831 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chrX:119,871,912-119,876,534 Size: 4,623 Coding Exon Count: 3 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:119,871,832-119,876,662)mRNA (may differ from genome)Protein (70 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NDUFA1
Diseases sorted by gene-association score: mitochondrial complex i deficiency* (357), leigh syndrome* (21), exposure keratitis (11), optic nerve disease (10), leber optic atrophy (7), mitochondrial encephalomyopathy (6), mitochondrial disorders (5), mitochondrial metabolism disease (5), fanconi anemia, complementation group a (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 607.60 RPKM in Heart - Left Ventricle
Total median expression: 8885.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.7080-0.309 Picture PostScript Text
3' UTR -24.40128-0.191 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017384 - NADH_Ub_cplx-1_asu_su-1

ModBase Predicted Comparative 3D Structure on Q6IBB5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF211454 - JP 2014500723-A/18957: Polycomb-Associated Non-Coding RNAs.
MA447031 - JP 2018138019-A/18957: Polycomb-Associated Non-Coding RNAs.
JD218687 - Sequence 199711 from Patent EP1572962.
JD559495 - Sequence 540519 from Patent EP1572962.
JD466271 - Sequence 447295 from Patent EP1572962.
LF379863 - JP 2014500723-A/187366: Polycomb-Associated Non-Coding RNAs.
MA615440 - JP 2018138019-A/187366: Polycomb-Associated Non-Coding RNAs.
BC000266 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa, mRNA (cDNA clone MGC:2066 IMAGE:3352028), complete cds.
U54993 - Human mitochondrial complex I hMWFE subunit mRNA, nuclear gene encoding mitochondrial protein, complete cds.
X81900 - H.sapiens mRNA for NADH dehydrogenase.
KJ891670 - Synthetic construct Homo sapiens clone ccsbBroadEn_01064 NDUFA1 gene, encodes complete protein.
AB451435 - Homo sapiens NDUFA1 mRNA for NADH oxidoreductase subunit MWFE, partial cds, clone: FLJ08161AAAF.
AB451304 - Homo sapiens NDUFA1 mRNA for NADH oxidoreductase subunit MWFE, complete cds, clone: FLJ08161AAAN.
CR456889 - Homo sapiens full open reading frame cDNA clone RZPDo834C017D for gene ZNF183, zinc finger protein 183 (RING finger, C3HC4 type); complete cds, incl. stopcodon.
JD023096 - Sequence 4120 from Patent EP1572962.
LF379862 - JP 2014500723-A/187365: Polycomb-Associated Non-Coding RNAs.
MA615439 - JP 2018138019-A/187365: Polycomb-Associated Non-Coding RNAs.
JD032433 - Sequence 13457 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa05010 - Alzheimer's disease
hsa05012 - Parkinson's disease
hsa05016 - Huntington's disease

BioCyc Knowledge Library
PWY-3781 - aerobic respiration I (cytochrome c)

BioCarta from NCI Cancer Genome Anatomy Project
h_etcPathway - Electron Transport Reaction in Mitochondria

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000371437.1, ENST00000371437.2, ENST00000371437.3, ENST00000371437.4, hCG_23184, NM_004541, Q6IBB5, Q6IBB5_HUMAN, uc004esc.1, uc004esc.2, uc004esc.3, uc004esc.4, uc004esc.5, uc004esc.6, ZNF183
UCSC ID: ENST00000371437.5
RefSeq Accession: NM_004541
Protein: Q6IBB5 CCDS: CCDS14590.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NDUFA1:
leigh-nucl-ov (Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.