Human Gene DMAC2L (ENST00000245448.10) Description and Page Index
  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 (By similarity). (from UniProt Q99766)
RefSeq Summary (NM_001003805): This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000245448.10
Gencode Gene: ENSG00000125375.15
Transcript (Including UTRs)
   Position: hg38 chr14:50,312,329-50,326,226 Size: 13,898 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg38 chr14:50,313,021-50,325,631 Size: 12,611 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsRNA-Seq ExpressionMicroarray ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:50,312,329-50,326,226)mRNA (may differ from genome)Protein (127 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSEnsembl
ExonPrimerGeneCardsMGIneXtProtPubMedReactome
Stanford SOURCEUniProtKBWikipedia

-  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.

-  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
  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 -279.70692-0.404 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
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
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
  AF390029 - Homo sapiens ATP synthase coupling factor B-like 1 mRNA, complete cds; nuclear gene for mitochondrial product.
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.
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: A8K1U3, ATP5S, ATP5S_HUMAN, ATPW, BC011549, D9N156, Q8WWX3, Q96F77, Q99766, uc001wxx.1, uc001wxx.2, uc001wxx.3
UCSC ID: uc001wxx.3
RefSeq Accession: NM_001003805
Protein: Q99766 (aka ATP5S_HUMAN or ATPW_HUMAN)
CCDS: CCDS32076.1

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