Human Gene ATP5PF (ENST00000400093.3) from GENCODE V44
  Description: Homo sapiens ATP synthase peripheral stalk subunit F6 (ATP5PF), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001685)
RefSeq Summary (NM_001685): Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes. [provided by RefSeq, Feb 2016].
Gencode Transcript: ENST00000400093.3
Gencode Gene: ENSG00000154723.13
Transcript (Including UTRs)
   Position: hg38 chr21:25,724,480-25,735,673 Size: 11,194 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr21:25,724,640-25,729,794 Size: 5,155 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:25,724,480-25,735,673)mRNA (may differ from genome)Protein (108 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsLynx
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q6IB54_HUMAN
DESCRIPTION: RecName: Full=ATP synthase-coupling factor 6, mitochondrial; Short=ATPase subunit F6;
FUNCTION: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (By similarity).
SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane (By similarity).
SIMILARITY: Belongs to the eukaryotic ATPase subunit F6 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


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 315.19 RPKM in Heart - Left Ventricle
Total median expression: 4745.81 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 -268.40692-0.388 Picture PostScript Text
3' UTR -27.70160-0.173 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
IPR008387 - ATPase_F0-cplx_f6su_mt
IPR016349 - ATPase_F0-cplx_f6su_mt_subgr

Pfam Domains:
PF05511 - Mitochondrial ATP synthase coupling factor 6

ModBase Predicted Comparative 3D Structure on Q6IB54
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     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015078 hydrogen ion transmembrane transporter activity

Biological Process:
GO:0006811 ion transport
GO:0015986 ATP synthesis coupled proton transport

Cellular Component:
GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AL110183 - Homo sapiens mRNA; cDNA DKFZp566A221 (from clone DKFZp566A221).
M73031 - Human H+-ATP synthase coupling factor 6 mRNA, complete cds.
M37104 - Human mitochondrial ATPase coupling factor 6 subunit (ATP5A) mRNA, complete cds.
BC066310 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6, mRNA (cDNA clone MGC:87152 IMAGE:4795914), complete cds.
BC001178 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6, mRNA (cDNA clone MGC:2243 IMAGE:3357779), complete cds.
AY544129 - Homo sapiens proliferation-inducing protein 36 mRNA, complete cds.
AK311899 - Homo sapiens cDNA, FLJ92165, Homo sapiens ATP synthase, H+ transporting, mitochondrial F0complex, subunit F6 (ATP5J), nuclear gene encoding mitochondrialprotein, mRNA.
KJ890739 - Synthetic construct Homo sapiens clone ccsbBroadEn_00133 ATP5J gene, encodes complete protein.
KJ896477 - Synthetic construct Homo sapiens clone ccsbBroadEn_05871 ATP5J gene, encodes complete protein.
BT007244 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6 mRNA, complete cds.
CR456950 - Homo sapiens full open reading frame cDNA clone RZPDo834C0516D for gene ATP5J, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6; complete cds, incl. stopcodon.
JD055494 - Sequence 36518 from Patent EP1572962.
JD285861 - Sequence 266885 from Patent EP1572962.
JD368383 - Sequence 349407 from Patent EP1572962.
JD067939 - Sequence 48963 from Patent EP1572962.
JD126919 - Sequence 107943 from Patent EP1572962.
JD055079 - Sequence 36103 from Patent EP1572962.
JD450374 - Sequence 431398 from Patent EP1572962.
JD445859 - Sequence 426883 from Patent EP1572962.
DQ599849 - Homo sapiens piRNA piR-37915, complete sequence.
JD413956 - Sequence 394980 from Patent EP1572962.
JD486238 - Sequence 467262 from Patent EP1572962.
JD416379 - Sequence 397403 from Patent EP1572962.
JD389310 - Sequence 370334 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

-  Other Names for This Gene
  Alternate Gene Symbols: ATP5J, ENST00000400093.1, ENST00000400093.2, hCG_2007844, NM_001685, Q6IB54, Q6IB54_HUMAN, uc002yls.1, uc002yls.2, uc002yls.3, uc002yls.4
UCSC ID: ENST00000400093.3
RefSeq Accession: NM_001685
Protein: Q6IB54 CCDS: CCDS13574.1

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