psui3905/ncbi_genes_summary huggingface dataset:
ATP6V0C, Official Symbol ATP6V0Cprovided by HGNC Official Full Name ATPase H+ transporting V0 subunit cprovided by HGNC Primary source HGNC:HGNC:855 See related Ensembl:ENSG00000185883 MIM:108745; AllianceGenome:HGNC:855 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATPL; VATL; VPPC; Vma3; ATP6C; ATP6L; EPEO3 Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in kidney (RPKM 126.5), brain (RPKM 117.6) and 25 other tissues See more Orthologs mouse all
ATP6V0CP4, Official Symbol ATP6V0CP4provided by HGNC Official Full Name ATPase H+ transporting V0 subunit c pseudogene 4provided by HGNC Primary source HGNC:HGNC:40002 See related Ensembl:ENSG00000284138 AllianceGenome:HGNC:40002 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATP6V0D1, Official Symbol ATP6V0D1provided by HGNC Official Full Name ATPase H+ transporting V0 subunit d1provided by HGNC Primary source HGNC:HGNC:13724 See related Ensembl:ENSG00000159720 MIM:607028; AllianceGenome:HGNC:13724 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P39; VATX; VMA6; ATP6D; ATP6DV; VPATPD Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 53.8), thyroid (RPKM 41.0) and 25 other tissues See more Orthologs mouse all
ATP6V0D1-DT, Official Symbol ATP6V0D1-DTprovided by HGNC Official Full Name ATP6V0D1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55268 See related Ensembl:ENSG00000270049 AllianceGenome:HGNC:55268 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in lymph node (RPKM 1.2), spleen (RPKM 1.0) and 23 other tissues See more
ATP6V0D2, Official Symbol ATP6V0D2provided by HGNC Official Full Name ATPase H+ transporting V0 subunit d2provided by HGNC Primary source HGNC:HGNC:18266 See related Ensembl:ENSG00000147614 MIM:618072; AllianceGenome:HGNC:18266 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VMA6; ATP6D2 Summary Predicted to enable proton transmembrane transporter activity. Predicted to be involved in vacuolar acidification and vacuolar transport. Located in apical plasma membrane. Part of vacuolar proton-transporting V-type ATPase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 22.7) and colon (RPKM 1.1) See more Orthologs mouse all
ATP6V0E1, Official Symbol ATP6V0E1provided by HGNC Official Full Name ATPase H+ transporting V0 subunit e1provided by HGNC Primary source HGNC:HGNC:863 See related Ensembl:ENSG00000113732 MIM:603931; AllianceGenome:HGNC:863 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as M9.2; ATP6H; Vma21; Vma21p; ATP6V0E Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 131.7), kidney (RPKM 118.1) and 25 other tissues See more Orthologs mouse all
ATP6V0E1P1, Official Symbol ATP6V0E1P1provided by HGNC Official Full Name ATPase H+ transporting V0 subunit e1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:41935 See related Ensembl:ENSG00000225364 AllianceGenome:HGNC:41935 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATP6V0E1P2, Official Symbol ATP6V0E1P2provided by HGNC Official Full Name ATPase H+ transporting V0 subunit e1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:41936 See related AllianceGenome:HGNC:41936 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATP6V0E1P3, Official Symbol ATP6V0E1P3provided by HGNC Official Full Name ATPase H+ transporting V0 subunit e1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:41937 See related AllianceGenome:HGNC:41937 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATP6V0E1P4, Official Symbol ATP6V0E1P4provided by HGNC Official Full Name ATPase H+ transporting V0 subunit e1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:41938 See related Ensembl:ENSG00000227883 AllianceGenome:HGNC:41938 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATP6V0E2, Official Symbol ATP6V0E2provided by HGNC Official Full Name ATPase H+ transporting V0 subunit e2provided by HGNC Primary source HGNC:HGNC:21723 See related Ensembl:ENSG00000171130 MIM:611019; AllianceGenome:HGNC:21723 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C7orf32; ATP6V0E2L Summary Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008] Expression Broad expression in brain (RPKM 57.2), kidney (RPKM 22.7) and 14 other tissues See more Orthologs mouse all
ATP6V0E2-AS1, Official Symbol ATP6V0E2-AS1provided by HGNC Official Full Name ATP6V0E2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44180 See related Ensembl:ENSG00000204934 AllianceGenome:HGNC:44180 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in brain (RPKM 2.0), thyroid (RPKM 1.8) and 22 other tissues See more
ATP6V1A, Official Symbol ATP6V1Aprovided by HGNC Official Full Name ATPase H+ transporting V1 subunit Aprovided by HGNC Primary source HGNC:HGNC:851 See related Ensembl:ENSG00000114573 MIM:607027; AllianceGenome:HGNC:851 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HO68; VA68; VPP2; Vma1; DEE93; ARCL2D; ATP6A1; IECEE3; ATP6V1A1 Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 61.4), kidney (RPKM 46.5) and 24 other tissues See more Orthologs mouse all
ATP6V1B1, Official Symbol ATP6V1B1provided by HGNC Official Full Name ATPase H+ transporting V1 subunit B1provided by HGNC Primary source HGNC:HGNC:853 See related Ensembl:ENSG00000116039 MIM:192132; AllianceGenome:HGNC:853 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VATB; VMA2; VPP3; DRTA2; RTA1B; ATP6B1 Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 35.1), salivary gland (RPKM 28.3) and 1 other tissue See more Orthologs mouse all
ATP6V1B1-AS1, Official Symbol ATP6V1B1-AS1provided by HGNC Official Full Name ATP6V1B1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51118 See related Ensembl:ENSG00000239322 AllianceGenome:HGNC:51118 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
ATP6V1B2, Official Symbol ATP6V1B2provided by HGNC Official Full Name ATPase H+ transporting V1 subunit B2provided by HGNC Primary source HGNC:HGNC:854 See related Ensembl:ENSG00000147416 MIM:606939; AllianceGenome:HGNC:854 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DOOD; HO57; VATB; VPP3; Vma2; ZLS2; ATP6B2; ATP6B1B2 Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 48.6), kidney (RPKM 28.3) and 24 other tissues See more Orthologs mouse all
ATP6V1C1, Official Symbol ATP6V1C1provided by HGNC Official Full Name ATPase H+ transporting V1 subunit C1provided by HGNC Primary source HGNC:HGNC:856 See related Ensembl:ENSG00000155097 MIM:603097; AllianceGenome:HGNC:856 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VATC; Vma5; ATP6C; ATP6D Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 32.3), thyroid (RPKM 16.6) and 24 other tissues See more Orthologs mouse all
ATP6V1C2, Official Symbol ATP6V1C2provided by HGNC Official Full Name ATPase H+ transporting V1 subunit C2provided by HGNC Primary source HGNC:HGNC:18264 See related Ensembl:ENSG00000143882 MIM:618070; AllianceGenome:HGNC:18264 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VMA5; ATP6C2 Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 47.0), skin (RPKM 40.5) and 25 other tissues See more Orthologs mouse all
ATP6V1D, Official Symbol ATP6V1Dprovided by HGNC Official Full Name ATPase H+ transporting V1 subunit Dprovided by HGNC Primary source HGNC:HGNC:13527 See related Ensembl:ENSG00000100554 MIM:609398; AllianceGenome:HGNC:13527 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VATD; VMA8; ATP6M Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 49.7), brain (RPKM 46.5) and 25 other tissues See more Orthologs mouse all
ATP6V1E1, Official Symbol ATP6V1E1provided by HGNC Official Full Name ATPase H+ transporting V1 subunit E1provided by HGNC Primary source HGNC:HGNC:857 See related Ensembl:ENSG00000131100 MIM:108746; AllianceGenome:HGNC:857 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P31; Vma4; ATP6E; ARCL2C; ATP6E2; ATP6V1E Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 104.5), kidney (RPKM 73.8) and 25 other tissues See more Orthologs mouse all
ATP6V1E1P3, Official Symbol ATP6V1E1P3provided by HGNC Official Full Name ATPase H+ transporting V1 subunit E1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:858 See related AllianceGenome:HGNC:858 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATP6EL1; ATP6V1EL1
ATP6V1E2, Official Symbol ATP6V1E2provided by HGNC Official Full Name ATPase H+ transporting V1 subunit E2provided by HGNC Primary source HGNC:HGNC:18125 See related Ensembl:ENSG00000250565 MIM:617385; AllianceGenome:HGNC:18125 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VMA4; ATP6E1; ATP6EL2; ATP6V1EL2 Summary Predicted to enable P-type proton-exporting transporter activity. Predicted to act upstream of or within proton transmembrane transport. Predicted to be located in cytosol. Predicted to be part of proton-transporting two-sector ATPase complex, catalytic domain. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 6.7), thyroid (RPKM 1.5) and 20 other tissues See more Orthologs mouse all
ATP6V1F, Official Symbol ATP6V1Fprovided by HGNC Official Full Name ATPase H+ transporting V1 subunit Fprovided by HGNC Primary source HGNC:HGNC:16832 See related Ensembl:ENSG00000128524 MIM:607160; AllianceGenome:HGNC:16832 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VATF; Vma7; ATP6S14 Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 97.5), brain (RPKM 77.0) and 25 other tissues See more Orthologs mouse all
ATP6V1G1, Official Symbol ATP6V1G1provided by HGNC Official Full Name ATPase H+ transporting V1 subunit G1provided by HGNC Primary source HGNC:HGNC:864 See related Ensembl:ENSG00000136888 MIM:607296; AllianceGenome:HGNC:864 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATP6G; ATP6J; Vma10; ATP6G1; ATP6GL Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 73.2), adrenal (RPKM 65.5) and 25 other tissues See more Orthologs mouse all
ATP6V1G1P2, Official Symbol ATP6V1G1P2provided by HGNC Official Full Name ATPase H+ transporting V1 subunit G1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:29359 See related Ensembl:ENSG00000253502 AllianceGenome:HGNC:29359 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATP6V1GP2
ATP6V1G1P4, Official Symbol ATP6V1G1P4provided by HGNC Official Full Name ATPase H+ transporting V1 subunit G1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:37671 See related Ensembl:ENSG00000233343 AllianceGenome:HGNC:37671 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATP6V1G1P5, Official Symbol ATP6V1G1P5provided by HGNC Official Full Name ATPase H+ transporting V1 subunit G1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:37672 See related Ensembl:ENSG00000270904 AllianceGenome:HGNC:37672 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATP6V1G1P7, Official Symbol ATP6V1G1P7provided by HGNC Official Full Name ATPase H+ transporting V1 subunit G1 pseudogene 7provided by HGNC Primary source HGNC:HGNC:39852 See related AllianceGenome:HGNC:39852 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATP6V1G2, Official Symbol ATP6V1G2provided by HGNC Official Full Name ATPase H+ transporting V1 subunit G2provided by HGNC Primary source HGNC:HGNC:862 See related Ensembl:ENSG00000213760 MIM:606853; AllianceGenome:HGNC:862 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NG38; ATP6G; VMA10; ATP6G2 Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011] Expression Biased expression in brain (RPKM 100.0) and adrenal (RPKM 3.8) See more Orthologs mouse all
ATP6V1G2-DDX39B, Official Symbol ATP6V1G2-DDX39Bprovided by HGNC Official Full Name ATP6V1G2-DDX39B readthrough (NMD candidate)provided by HGNC Primary source HGNC:HGNC:41999 See related Ensembl:ENSG00000254870 AllianceGenome:HGNC:41999 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This locus represents naturally occurring read-through transcription between the neighboring ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) and DDX39B (DEAD box polypeptide 39B) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript and is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in ovary (RPKM 72.1), endometrium (RPKM 72.1) and 25 other tissues See more
ATP6V1G3, Official Symbol ATP6V1G3provided by HGNC Official Full Name ATPase H+ transporting V1 subunit G3provided by HGNC Primary source HGNC:HGNC:18265 See related Ensembl:ENSG00000151418 MIM:618071; AllianceGenome:HGNC:18265 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Vma10; ATP6G3 Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward kidney (RPKM 14.8) See more Orthologs mouse all
ATP6V1H, Official Symbol ATP6V1Hprovided by HGNC Official Full Name ATPase H+ transporting V1 subunit Hprovided by HGNC Primary source HGNC:HGNC:18303 See related Ensembl:ENSG00000047249 MIM:608861; AllianceGenome:HGNC:18303 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SFD; NBP1; VMA13; CGI-11; MSTP042; SFDbeta; SFDalpha Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in brain (RPKM 40.0), kidney (RPKM 25.7) and 25 other tissues See more Orthologs mouse all
ATP7A, Official Symbol ATP7Aprovided by HGNC Official Full Name ATPase copper transporting alphaprovided by HGNC Primary source HGNC:HGNC:869 See related Ensembl:ENSG00000165240 MIM:300011; AllianceGenome:HGNC:869 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MK; MNK; DSMAX; SMAX3 Summary This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in skin (RPKM 5.4), thyroid (RPKM 2.9) and 25 other tissues See more Orthologs mouse all
ATP7B, Official Symbol ATP7Bprovided by HGNC Official Full Name ATPase copper transporting betaprovided by HGNC Primary source HGNC:HGNC:870 See related Ensembl:ENSG00000123191 MIM:606882; AllianceGenome:HGNC:870 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WD; PWD; WC1; WND Summary This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019] Expression Broad expression in testis (RPKM 5.6), duodenum (RPKM 4.2) and 22 other tissues See more Orthologs mouse all
ATP8A1, Official Symbol ATP8A1provided by HGNC Official Full Name ATPase phospholipid transporting 8A1provided by HGNC Primary source HGNC:HGNC:13531 See related Ensembl:ENSG00000124406 MIM:609542; AllianceGenome:HGNC:13531 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATPIA; ATPP2; ATPASEII Summary The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 28.9), thyroid (RPKM 28.5) and 20 other tissues See more Orthologs mouse all
ATP8A2, Official Symbol ATP8A2provided by HGNC Official Full Name ATPase phospholipid transporting 8A2provided by HGNC Primary source HGNC:HGNC:13533 See related Ensembl:ENSG00000132932 MIM:605870; AllianceGenome:HGNC:13533 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IB; ATP; ML-1; ATPIB; CAMRQ4 Summary The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with a syndrome (CAMRQ4) characterized by cerebellar ataxia and cognitive disabilities. In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017] Expression Biased expression in brain (RPKM 6.4), testis (RPKM 2.7) and 2 other tissues See more Orthologs mouse all
ATP8A2P2, Official Symbol ATP8A2P2provided by HGNC Official Full Name ATPase phospholipid transporting 8A2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39663 See related Ensembl:ENSG00000229800 AllianceGenome:HGNC:39663 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATP8B1, Official Symbol ATP8B1provided by HGNC Official Full Name ATPase phospholipid transporting 8B1provided by HGNC Primary source HGNC:HGNC:3706 See related Ensembl:ENSG00000081923 MIM:602397; AllianceGenome:HGNC:3706 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BRIC; FIC1; ICP1; PFIC; ATPIC; PFIC1 Summary This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 52.5), stomach (RPKM 26.5) and 17 other tissues See more Orthologs mouse all
ATP8B2, Official Symbol ATP8B2provided by HGNC Official Full Name ATPase phospholipid transporting 8B2provided by HGNC Primary source HGNC:HGNC:13534 See related Ensembl:ENSG00000143515 MIM:605867; AllianceGenome:HGNC:13534 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATPID Summary The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 16.7), endometrium (RPKM 13.3) and 23 other tissues See more Orthologs mouse all
ATP8B3, Official Symbol ATP8B3provided by HGNC Official Full Name ATPase phospholipid transporting 8B3provided by HGNC Primary source HGNC:HGNC:13535 See related Ensembl:ENSG00000130270 MIM:605866; AllianceGenome:HGNC:13535 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATPIK Summary The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Biased expression in testis (RPKM 14.6), endometrium (RPKM 1.3) and 2 other tissues See more Orthologs mouse all
ATP8B4, Official Symbol ATP8B4provided by HGNC Official Full Name ATPase phospholipid transporting 8B4 (putative)provided by HGNC Primary source HGNC:HGNC:13536 See related Ensembl:ENSG00000104043 MIM:609123; AllianceGenome:HGNC:13536 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATPIM Summary This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Expression Broad expression in bone marrow (RPKM 8.4), placenta (RPKM 2.4) and 14 other tissues See more Orthologs mouse all
ATP9A, Official Symbol ATP9Aprovided by HGNC Official Full Name ATPase phospholipid transporting 9A (putative)provided by HGNC Primary source HGNC:HGNC:13540 See related Ensembl:ENSG00000054793 MIM:609126; AllianceGenome:HGNC:13540 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATPIIA; NEDGBA Summary Enables protease binding activity. Involved in negative regulation of exosomal secretion; regulation of endocytic recycling; and regulation of retrograde transport, endosome to Golgi. Located in several cellular components, including endosome membrane; perinuclear region of cytoplasm; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 35.7), thyroid (RPKM 11.3) and 18 other tissues See more Orthologs mouse all
ATP9B, Official Symbol ATP9Bprovided by HGNC Official Full Name ATPase phospholipid transporting 9B (putative)provided by HGNC Primary source HGNC:HGNC:13541 See related Ensembl:ENSG00000166377 MIM:614446; AllianceGenome:HGNC:13541 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NEO1L; hMMR1; ATPIIB; ATPASEP; HUSSY-20 Summary Predicted to enable ATPase-coupled intramembrane lipid transporter activity. Predicted to be involved in endocytosis; phospholipid translocation; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in perinuclear region of cytoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 2.8), thyroid (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
ATPAF1, Official Symbol ATPAF1provided by HGNC Official Full Name ATP synthase mitochondrial F1 complex assembly factor 1provided by HGNC Primary source HGNC:HGNC:18803 See related Ensembl:ENSG00000123472 MIM:608917; AllianceGenome:HGNC:18803 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATP11; ATP11p Summary This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in heart (RPKM 65.7), adrenal (RPKM 34.6) and 25 other tissues See more Orthologs mouse all
ATPAF2, Official Symbol ATPAF2provided by HGNC Official Full Name ATP synthase mitochondrial F1 complex assembly factor 2provided by HGNC Primary source HGNC:HGNC:18802 See related Ensembl:ENSG00000171953 MIM:608918; AllianceGenome:HGNC:18802 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATP12; ATP12p; LP3663; MC5DN1 Summary This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 3.4), bone marrow (RPKM 2.9) and 25 other tissues See more Orthologs mouse all
ATPSCKMT, Official Symbol ATPSCKMTprovided by HGNC Official Full Name ATP synthase c subunit lysine N-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:27029 See related Ensembl:ENSG00000150756 MIM:618568; AllianceGenome:HGNC:27029 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JS-2; FAM173B; hFAM173B Summary Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine trimethylation; positive regulation of sensory perception of pain; and regulation of proton transport. Located in mitochondrial crista. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 4.0), adrenal (RPKM 3.9) and 25 other tissues See more Orthologs mouse all