Human Gene NDUFA8 (ENST00000373768.4_7) from GENCODE V47lift37
  Description: NADH:ubiquinone oxidoreductase subunit A8, transcript variant 1 (from RefSeq NM_014222.3)
Gencode Transcript: ENST00000373768.4_7
Gencode Gene: ENSG00000119421.7_9
Transcript (Including UTRs)
   Position: hg19 chr9:124,906,337-124,922,058 Size: 15,722 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr9:124,906,520-124,921,956 Size: 15,437 Coding Exon Count: 4 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:124,906,337-124,922,058)mRNA (may differ from genome)Protein (172 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NDUA8_HUMAN
DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8; AltName: Full=Complex I-19kD; Short=CI-19kD; AltName: Full=Complex I-PGIV; Short=CI-PGIV; AltName: Full=NADH-ubiquinone oxidoreductase 19 kDa subunit;
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.
SUBUNIT: Complex I is composed of 45 different subunits.
SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion intermembrane space.
DOMAIN: Contains four C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the formation of intramolecular disulfide bonds.
PTM: May contain intrachain disulfide bonds, as evidenced by its electrophoretic mobility under reducing vs non-reducing conditions.
SIMILARITY: Belongs to the complex I NDUFA8 subunit family.
SIMILARITY: Contains 2 CHCH domains.

-  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: NDUFA8
Diseases sorted by gene-association score: mitochondrial complex i deficiency (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 90.10 RPKM in Heart - Left Ventricle
Total median expression: 1529.25 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 -39.80102-0.390 Picture PostScript Text
3' UTR -42.30183-0.231 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
IPR010625 - CHCH
IPR016680 - NADH_Ub_cplx-1_asu_su-8

Pfam Domains:
PF06747 - CHCH domain

ModBase Predicted Comparative 3D Structure on P51970
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-  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 orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0044877 macromolecular complex binding

Biological Process:
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0005758 mitochondrial intermembrane space
GO:0016020 membrane
GO:0070469 respiratory chain


-  Descriptions from all associated GenBank mRNAs
  AK301520 - Homo sapiens cDNA FLJ52138 complete cds, highly similar to NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 8 (EC 1.6.5.3).
BC001016 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa, mRNA (cDNA clone MGC:793 IMAGE:3345138), complete cds.
AF044953 - Homo sapiens NADH:ubiquinone oxidoreductase PGIV subunit mRNA, nuclear gene encoding mitochondrial protein, complete cds.
KJ897227 - Synthetic construct Homo sapiens clone ccsbBroadEn_06621 NDUFA8 gene, encodes complete protein.
KR710623 - Synthetic construct Homo sapiens clone CCSBHm_00014842 NDUFA8 (NDUFA8) mRNA, encodes complete protein.
AK314135 - Homo sapiens cDNA, FLJ94833, Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa (NDUFA8), mRNA.
JD497257 - Sequence 478281 from Patent EP1572962.
JD396471 - Sequence 377495 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-3781 - aerobic respiration I (cytochrome c)

Reactome (by CSHL, EBI, and GO)

Protein P51970 (Reactome details) participates in the following event(s):

R-HSA-6799178 Intermediate 1 binds HP subcomplex to form Intermediate 2
R-HSA-6799191 Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex
R-HSA-6799202 The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex
R-HSA-6799197 ND4, ND5 bind the 550kDa complex to form the 815kDa complex
R-HSA-6799179 Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex
R-HSA-6799196 The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I
R-HSA-163217 Complex I oxidises NADH to NAD+, reduces CoQ to QH2
R-HSA-6799198 Complex I biogenesis
R-HSA-611105 Respiratory electron transport
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B1AM93, ENST00000373768.1, ENST00000373768.2, ENST00000373768.3, NDUA8_HUMAN, NM_014222, P51970, Q9Y6N0, uc318law.1, uc318law.2
UCSC ID: ENST00000373768.4_7
RefSeq Accession: NM_014222.3
Protein: P51970 (aka NDUA8_HUMAN)

-  Gene Model Information
  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.