Human Gene DMAC2L (ENST00000245448.11_4) from GENCODE V47lift37
  Description: Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway. (from UniProt Q99766)
Gencode Transcript: ENST00000245448.11_4
Gencode Gene: ENSG00000125375.18_13
Transcript (Including UTRs)
   Position: hg19 chr14:50,779,047-50,792,944 Size: 13,898 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr14:50,788,206-50,792,349 Size: 4,144 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:50,779,047-50,792,944)mRNA (may differ from genome)Protein (112 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsMGIPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ATP5S_HUMAN
DESCRIPTION: RecName: Full=ATP synthase subunit s, mitochondrial; AltName: Full=ATP synthase-coupling factor B; Short=FB; AltName: Full=Mitochondrial ATP synthase regulatory component factor B; Flags: Precursor;
FUNCTION: Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway (By similarity).
SUBUNIT: Homotetramer. Associates with ATP synthase (By similarity).
SUBCELLULAR LOCATION: Mitochondrion (By similarity). Mitochondrion inner membrane (By similarity).
SIMILARITY: Belongs to the ATP synthase subunit s family.
SIMILARITY: Contains 4 LRR (leucine-rich) repeats.
CAUTION: It is uncertain whether Met-1 or Met-16 is the initiator.

-  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


+  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: 15.21 RPKM in Testis
Total median expression: 196.69 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 -296.90737-0.403 Picture PostScript Text
3' UTR -156.30595-0.263 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
IPR026063 - ATP_synthase_s

ModBase Predicted Comparative 3D Structure on Q99766
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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
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015078 hydrogen ion transmembrane transporter activity
GO:0046872 metal ion binding

Biological Process:
GO:0006754 ATP biosynthetic process
GO:0006811 ion transport
GO:0042407 cristae formation
GO:1902600 hydrogen ion transmembrane transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0045263 proton-transporting ATP synthase complex, coupling factor F(o)


-  Descriptions from all associated GenBank mRNAs
  BC011549 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B), mRNA (cDNA clone MGC:19945 IMAGE:4554461), complete cds.
JD173500 - Sequence 154524 from Patent EP1572962.
AF052186 - Homo sapiens clone 24431 mRNA sequence.
U79253 - Human clone 23893 mRNA, complete cds.
JD467238 - Sequence 448262 from Patent EP1572962.
JD459326 - Sequence 440350 from Patent EP1572962.
BC087851 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B), mRNA (cDNA clone IMAGE:30399343).
JD124746 - Sequence 105770 from Patent EP1572962.
JD128753 - Sequence 109777 from Patent EP1572962.
JD405737 - Sequence 386761 from Patent EP1572962.
AK290008 - Homo sapiens cDNA FLJ77027 complete cds, highly similar to Homo sapiens mitochondrial ATP synthase regulatory component factor B (ATPW) mRNA.
JD139909 - Sequence 120933 from Patent EP1572962.
JD149838 - Sequence 130862 from Patent EP1572962.
JD059194 - Sequence 40218 from Patent EP1572962.
JD526547 - Sequence 507571 from Patent EP1572962.
AY052377 - Homo sapiens mitochondrial ATP synthase regulatory component factor B (ATPW) mRNA, complete cds; nuclear gene for mitochondrial product.
JD040859 - Sequence 21883 from Patent EP1572962.
JD552637 - Sequence 533661 from Patent EP1572962.
CU679952 - Synthetic construct Homo sapiens gateway clone IMAGE:100018526 5' read ATP5S mRNA.
KJ898661 - Synthetic construct Homo sapiens clone ccsbBroadEn_08055 ATP5S gene, encodes complete protein.
AF390029 - Homo sapiens ATP synthase coupling factor B-like 1 mRNA, complete cds; nuclear gene for mitochondrial product.
JD144716 - Sequence 125740 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q99766 (Reactome details) participates in the following event(s):

R-HSA-164840 ADP and Pi bind to ATPase
R-HSA-8949580 F1Fo ATP synthase dimerizes
R-HSA-164834 Enzyme-bound ATP is released
R-HSA-164832 ATPase synthesizes ATP
R-HSA-163210 Formation of ATP by chemiosmotic coupling
R-HSA-8949613 Cristae formation
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A0A2R8YDJ1, A0A5K1VW60, A8K1U3, ATP5S , ATP5S_HUMAN, ATPW, BC011549, D9N156, DMAC2L , ENST00000245448.1, ENST00000245448.10, ENST00000245448.2, ENST00000245448.3, ENST00000245448.4, ENST00000245448.5, ENST00000245448.6, ENST00000245448.7, ENST00000245448.8, ENST00000245448.9, Q8WWX3, Q96F77, Q99766, uc317eqp.1
UCSC ID: ENST00000245448.11_4
RefSeq Accession: NM_001003805.3
Protein: Q99766 (aka ATP5S_HUMAN or ATPW_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
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