Human Gene NDUFA4 (uc003srx.2) Description and Page Index
  Description: Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa (NDUFA4), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_002489): The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BP276315.1, SRR1660805.56099.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000339600.6/ ENSP00000339720.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr7:10,971,580-10,979,813 Size: 8,234 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr7:10,973,263-10,979,684 Size: 6,422 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:10,971,580-10,979,813)mRNA (may differ from genome)Protein (81 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4; AltName: Full=Complex I-MLRQ; Short=CI-MLRQ; AltName: Full=NADH-ubiquinone oxidoreductase MLRQ subunit;
FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not 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.
SUBUNIT: Mammalian complex I is composed of 45 different subunits.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
SIMILARITY: Belongs to the complex I NDUFA4 subunit family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NDUFA4
CDC HuGE Published Literature: NDUFA4

-  MalaCards Disease Associations
  MalaCards Gene Search: NDUFA4
Diseases sorted by gene-association score: leigh syndrome with leukodystrophy* (69), dandy-walker syndrome (8), leigh syndrome (2)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 236.29 RPKM in Heart - Left Ventricle
Total median expression: 3922.25 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -44.10129-0.342 Picture PostScript Text
3' UTR -464.101683-0.276 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
IPR010530 - B12D

Pfam Domains:
PF06522 - NADH-ubiquinone reductase complex 1 MLRQ subunit

ModBase Predicted Comparative 3D Structure on O00483
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
No orthologGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 Protein SequenceProtein SequenceProtein Sequence  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0044877 macromolecular complex binding
GO:0004129 cytochrome-c oxidase activity

Biological Process:
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0055114 oxidation-reduction process
GO:1902600 hydrogen ion transmembrane transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0005751 mitochondrial respiratory chain complex IV
GO:0016020 membrane
GO:0070469 respiratory chain

-  Descriptions from all associated GenBank mRNAs
  JD273009 - Sequence 254033 from Patent EP1572962.
AF201077 - Homo sapiens NADH:ubiquinone oxidoreductase MLRQ subunit (NDUFA4) mRNA, complete cds.
AK024837 - Homo sapiens cDNA: FLJ21184 fis, clone CAS11635.
AK130950 - Homo sapiens cDNA FLJ27440 fis, clone CBL02355, highly similar to NADH-ubiquinone oxidoreductase MLRQ subunit (EC
BC105295 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, mRNA (cDNA clone MGC:104422 IMAGE:6739636), complete cds.
U94586 - Homo sapiens NADH:ubiquinone oxidoreductase MLRQ subunit mRNA, complete cds.
JD528746 - Sequence 509770 from Patent EP1572962.
BC101794 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, mRNA (cDNA clone MGC:126843 IMAGE:8069300), complete cds.
BC101796 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, mRNA (cDNA clone MGC:126845 IMAGE:8069302), complete cds.
CR541716 - Homo sapiens full open reading frame cDNA clone RZPDo834D0529D for gene NDUFA4, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa; complete cds, incl. stopcodon.
KJ891672 - Synthetic construct Homo sapiens clone ccsbBroadEn_01066 NDUFA4 gene, encodes complete protein.
CR407618 - Homo sapiens full open reading frame cDNA clone RZPDo834A1116D for gene NDUFA4, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa complete cds, without stopcodon.
JD259316 - Sequence 240340 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 -- electron donor II
PWY0-1334 - NADH to cytochrome bd oxidase electron transfer
PWY0-1335 - NADH to cytochrome bo oxidase electron transfer

Reactome (by CSHL, EBI, and GO)

Protein O00483 (Reactome details) participates in the following event(s):

R-HSA-163214 Electron transfer from reduced cytochrome c to molecular oxygen
R-HSA-611105 Respiratory electron transport
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-212436 Generic Transcription Pathway
R-HSA-1430728 Metabolism
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A4D109, NDUA4_HUMAN, NM_002489, NP_002480, O00483, Q6FHN5
UCSC ID: uc003srx.2
RefSeq Accession: NM_002489
Protein: O00483 (aka NDUA4_HUMAN)
CCDS: CCDS5357.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NDUFA4:
leigh-nucl-ov (Nuclear Gene-Encoded Leigh Syndrome Overview )

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_002489.3
exon count: 4CDS single in 3' UTR: no RNA size: 2058
ORF size: 246CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 692.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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