Human Gene NDUFA5 (ENST00000355749.7_12) from GENCODE V47lift37
  Description: NADH:ubiquinone oxidoreductase subunit A5, transcript variant 8 (from RefSeq NR_111925.2)
Gencode Transcript: ENST00000355749.7_12
Gencode Gene: ENSG00000128609.16_15
Transcript (Including UTRs)
   Position: hg19 chr7:123,177,051-123,197,872 Size: 20,822 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr7:123,182,173-123,197,849 Size: 15,677 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
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 (chr7:123,177,051-123,197,872)mRNA (may differ from genome)Protein (116 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NDUA5_HUMAN
DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5; AltName: Full=Complex I subunit B13; AltName: Full=Complex I-13kD-B; Short=CI-13kD-B; AltName: Full=NADH-ubiquinone oxidoreductase 13 kDa-B 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 inner membrane; Peripheral membrane protein; Matrix side.
TISSUE SPECIFICITY: Expressed in all tissues examined with highest levels in heart, skeletal muscle and brain.
SIMILARITY: Belongs to the complex I NDUFA5 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: NDUFA5
Diseases sorted by gene-association score: mitochondrial complex i deficiency* (17), korean hemorrhagic fever (2), leber optic atrophy (1)
* = 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: 26.82 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 588.87 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 -3.6023-0.157 Picture PostScript Text
3' UTR -1222.205122-0.239 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
IPR006806 - ETC_CI_29_9

Pfam Domains:
PF04716 - ETC complex I subunit conserved region

ModBase Predicted Comparative 3D Structure on Q16718
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 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:0005515 protein binding
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0016651 oxidoreductase activity, acting on NAD(P)H

Biological Process:
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0022904 respiratory electron transport chain
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:0016020 membrane
GO:0045271 respiratory chain complex I
GO:0070469 respiratory chain


-  Descriptions from all associated GenBank mRNAs
  CR933664 - Homo sapiens mRNA; cDNA DKFZp781K1356 (from clone DKFZp781K1356).
U64028 - Human NADH:ubiquinone oxidoreductase subunit B13 mRNA, complete cds.
U53468 - Homo sapiens NADH:ubiquinone oxidoreductase subunit B13 (B13) mRNA, complete cds.
BC000813 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa, mRNA (cDNA clone MGC:5042 IMAGE:3453236), complete cds.
BC070236 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa, mRNA (cDNA clone MGC:88218 IMAGE:4290594), complete cds.
BC020821 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa, mRNA (cDNA clone MGC:23883 IMAGE:4701912), complete cds.
BC070237 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa, mRNA (cDNA clone MGC:88219 IMAGE:4659819), complete cds.
JD302007 - Sequence 283031 from Patent EP1572962.
JD506442 - Sequence 487466 from Patent EP1572962.
JD239074 - Sequence 220098 from Patent EP1572962.
JD235142 - Sequence 216166 from Patent EP1572962.
LF207047 - JP 2014500723-A/14550: Polycomb-Associated Non-Coding RNAs.
JD237576 - Sequence 218600 from Patent EP1572962.
LF360519 - JP 2014500723-A/168022: Polycomb-Associated Non-Coding RNAs.
AK315458 - Homo sapiens cDNA, FLJ96516, Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5,13kDa (NDUFA5), nuclear gene encoding mitochondrial protein, mRNA.
BT006695 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa mRNA, complete cds.
KJ904516 - Synthetic construct Homo sapiens clone ccsbBroadEn_13910 NDUFA5 gene, encodes complete protein.
CU674408 - Synthetic construct Homo sapiens gateway clone IMAGE:100017912 5' read NDUFA5 mRNA.
LF360520 - JP 2014500723-A/168023: Polycomb-Associated Non-Coding RNAs.
LF360521 - JP 2014500723-A/168024: Polycomb-Associated Non-Coding RNAs.
LF360522 - JP 2014500723-A/168025: Polycomb-Associated Non-Coding RNAs.
AK022209 - Homo sapiens cDNA FLJ12147 fis, clone MAMMA1000410.
LF360524 - JP 2014500723-A/168027: Polycomb-Associated Non-Coding RNAs.
MA442624 - JP 2018138019-A/14550: Polycomb-Associated Non-Coding RNAs.
MA596096 - JP 2018138019-A/168022: Polycomb-Associated Non-Coding RNAs.
MA596097 - JP 2018138019-A/168023: Polycomb-Associated Non-Coding RNAs.
MA596098 - JP 2018138019-A/168024: Polycomb-Associated Non-Coding RNAs.
MA596099 - JP 2018138019-A/168025: Polycomb-Associated Non-Coding RNAs.
MA596101 - JP 2018138019-A/168027: 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 Q16718 (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: B2RD98, ENST00000355749.1, ENST00000355749.2, ENST00000355749.3, ENST00000355749.4, ENST00000355749.5, ENST00000355749.6, NDUA5_HUMAN, NR_111925, Q16718, Q5H9R2, Q6IRX7, uc317zfu.1, uc317zfu.2
UCSC ID: ENST00000355749.7_12
RefSeq Accession: NM_005000.5
Protein: Q16718 (aka NDUA5_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.