Human Gene NDUFV3 (ENST00000354250.7_4) from GENCODE V47lift37
  Description: NADH:ubiquinone oxidoreductase subunit V3, transcript variant 1 (from RefSeq NM_021075.4)
Gencode Transcript: ENST00000354250.7_4
Gencode Gene: ENSG00000160194.18_7
Transcript (Including UTRs)
   Position: hg19 chr21:44,313,419-44,333,409 Size: 19,991 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr21:44,313,444-44,329,131 Size: 15,688 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:44,313,419-44,333,409)mRNA (may differ from genome)Protein (473 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NDUV3_HUMAN
DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial; AltName: Full=Complex I-9kD; Short=CI-9kD; AltName: Full=NADH-ubiquinone oxidoreductase 9 kDa subunit; AltName: Full=Renal carcinoma antigen NY-REN-4; Flags: Precursor;
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. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
SIMILARITY: Belongs to the complex I NDUFV3 subunit family.

-  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: NDUFV3
Diseases sorted by gene-association score: autosomal recessive nonsyndromic deafness (5), nonsyndromic deafness (1)

-  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: 12.73 RPKM in Heart - Left Ventricle
Total median expression: 320.88 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.7025-0.188 Picture PostScript Text
3' UTR -1954.804278-0.457 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
IPR026193 - NDUFV3

Pfam Domains:
PF15880 - NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial

ModBase Predicted Comparative 3D Structure on P56181
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0008137 NADH dehydrogenase (ubiquinone) activity

Biological Process:
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0042775 mitochondrial ATP synthesis coupled electron transport
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0016020 membrane
GO:0070469 respiratory chain


-  Descriptions from all associated GenBank mRNAs
  AK056041 - Homo sapiens cDNA FLJ31479 fis, clone NT2NE2001634, moderately similar to NADH-UBIQUINONE OXIDOREDUCTASE 9 KD SUBUNIT PRECURSOR (EC 1.6.5.3).
LF385182 - JP 2014500723-A/192685: Polycomb-Associated Non-Coding RNAs.
BC054016 - Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa, mRNA (cDNA clone IMAGE:6739558), complete cds.
BC021217 - Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa, mRNA (cDNA clone MGC:12790 IMAGE:4302265), complete cds.
AK308228 - Homo sapiens cDNA, FLJ98176.
AK289586 - Homo sapiens cDNA FLJ76512 complete cds, highly similar to Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), transcript variant 2, mRNA.
BC033766 - Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa, mRNA (cDNA clone IMAGE:4177041), complete cds.
CU676876 - Synthetic construct Homo sapiens gateway clone IMAGE:100017339 5' read NDUFV3 mRNA.
CU689730 - Synthetic construct Homo sapiens gateway clone IMAGE:100017905 5' read NDUFV3 mRNA.
KJ891685 - Synthetic construct Homo sapiens clone ccsbBroadEn_01079 NDUFV3 gene, encodes complete protein.
KJ897232 - Synthetic construct Homo sapiens clone ccsbBroadEn_06626 NDUFV3 gene, encodes complete protein.
CR542190 - Homo sapiens full open reading frame cDNA clone RZPDo834G0524D for gene NDUFV3, NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa; complete cds, without stopcodon.
CR542174 - Homo sapiens full open reading frame cDNA clone RZPDo834B0924D for gene NDUFV3, NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa; complete cds, incl. stopcodon.
LF341033 - JP 2014500723-A/148536: Polycomb-Associated Non-Coding RNAs.
AY173949 - Homo sapiens mitochondrial NADH oxidoreductase-like protein mRNA, complete cds; nuclear gene for mitochondrial product.
DQ892718 - Synthetic construct clone IMAGE:100005348; FLH189081.01X; RZPDo839B0574D NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3) gene, encodes complete protein.
DQ895967 - Synthetic construct Homo sapiens clone IMAGE:100010427; FLH189077.01L; RZPDo839B0564D NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3) gene, encodes complete protein.
LF341034 - JP 2014500723-A/148537: Polycomb-Associated Non-Coding RNAs.
LF341035 - JP 2014500723-A/148538: Polycomb-Associated Non-Coding RNAs.
LF341036 - JP 2014500723-A/148539: Polycomb-Associated Non-Coding RNAs.
LF341037 - JP 2014500723-A/148540: Polycomb-Associated Non-Coding RNAs.
LF341038 - JP 2014500723-A/148541: Polycomb-Associated Non-Coding RNAs.
JD143641 - Sequence 124665 from Patent EP1572962.
JD287529 - Sequence 268553 from Patent EP1572962.
JD536583 - Sequence 517607 from Patent EP1572962.
JD514047 - Sequence 495071 from Patent EP1572962.
JD514048 - Sequence 495072 from Patent EP1572962.
JD121114 - Sequence 102138 from Patent EP1572962.
JD381331 - Sequence 362355 from Patent EP1572962.
JD381332 - Sequence 362356 from Patent EP1572962.
JD537304 - Sequence 518328 from Patent EP1572962.
JD100945 - Sequence 81969 from Patent EP1572962.
JD142589 - Sequence 123613 from Patent EP1572962.
JD196144 - Sequence 177168 from Patent EP1572962.
JD140161 - Sequence 121185 from Patent EP1572962.
JD381003 - Sequence 362027 from Patent EP1572962.
JD089587 - Sequence 70611 from Patent EP1572962.
JD135531 - Sequence 116555 from Patent EP1572962.
JD222924 - Sequence 203948 from Patent EP1572962.
JD543279 - Sequence 524303 from Patent EP1572962.
JD478592 - Sequence 459616 from Patent EP1572962.
JD478593 - Sequence 459617 from Patent EP1572962.
JD463841 - Sequence 444865 from Patent EP1572962.
JD463796 - Sequence 444820 from Patent EP1572962.
JD148284 - Sequence 129308 from Patent EP1572962.
JD488590 - Sequence 469614 from Patent EP1572962.
JD199439 - Sequence 180463 from Patent EP1572962.
JD421430 - Sequence 402454 from Patent EP1572962.
JD179041 - Sequence 160065 from Patent EP1572962.
JD179042 - Sequence 160066 from Patent EP1572962.
JD187786 - Sequence 168810 from Patent EP1572962.
DQ596756 - Homo sapiens piRNA piR-34822, complete sequence.
JD558418 - Sequence 539442 from Patent EP1572962.
MA620759 - JP 2018138019-A/192685: Polycomb-Associated Non-Coding RNAs.
MA576610 - JP 2018138019-A/148536: Polycomb-Associated Non-Coding RNAs.
MA576611 - JP 2018138019-A/148537: Polycomb-Associated Non-Coding RNAs.
MA576612 - JP 2018138019-A/148538: Polycomb-Associated Non-Coding RNAs.
MA576613 - JP 2018138019-A/148539: Polycomb-Associated Non-Coding RNAs.
MA576614 - JP 2018138019-A/148540: Polycomb-Associated Non-Coding RNAs.
MA576615 - JP 2018138019-A/148541: Polycomb-Associated Non-Coding RNAs.

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

Reactome (by CSHL, EBI, and GO)

Protein P56181 (Reactome details) participates in the following event(s):

R-HSA-6800870 NDUF subunits bind to form the FP subcomplex
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: A8K0M1, ENST00000354250.1, ENST00000354250.2, ENST00000354250.3, ENST00000354250.4, ENST00000354250.5, ENST00000354250.6, J3KNX7, NDUV3_HUMAN, NM_021075, P56181, Q6FGD3, Q8WU60, Q9HCR5, uc317ynj.1, uc317ynj.2
UCSC ID: ENST00000354250.7_4
RefSeq Accession: NM_021075.4
Protein: P56181 (aka NDUV3_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.