Human Gene DMAC2L (ENST00000554204.7) from GENCODE V44
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_001003803): 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: ENST00000554204.7 Gencode Gene: ENSG00000125375.18 Transcript (Including UTRs) Position: hg38 chr14:50,312,329-50,326,226 Size: 13,898 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr14:50,321,488-50,325,723 Size: 4,236 Coding Exon Count: 4
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.
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.
ModBase Predicted Comparative 3D Structure on Q99766
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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.
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. DQ572161 - Homo sapiens piRNA piR-40273, complete sequence. 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
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