psui3905/ncbi_genes_summary huggingface dataset:
ATP5F1A, Official Symbol ATP5F1Aprovided by HGNC Official Full Name ATP synthase F1 subunit alphaprovided by HGNC Primary source HGNC:HGNC:823 See related Ensembl:ENSG00000152234 MIM:164360; AllianceGenome:HGNC:823 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 OMR; ORM; ATPM; MOM2; ATP5A; hATP1; ATP5A1; MC5DN4; ATP5AL2; COXPD22; MC5DN4A; MC5DN4B; HEL-S-123m Summary This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using 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. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in heart (RPKM 367.9), kidney (RPKM 254.5) and 25 other tissues See more Orthologs mouse all
ATP5F1AP1, Official Symbol ATP5F1AP1provided by HGNC Official Full Name ATP synthase F1 subunit alpha pseudogene 1provided by HGNC Primary source HGNC:HGNC:827 See related Ensembl:ENSG00000234861 AllianceGenome:HGNC:827 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 ATP5AL1; ATP5AP1; ATP5A1P1; ATP5A1P5; ATP5A1P6
ATP5F1AP10, Official Symbol ATP5F1AP10provided by HGNC Official Full Name ATP synthase F1 subunit alpha pseudogene 10provided by HGNC Primary source HGNC:HGNC:37668 See related AllianceGenome:HGNC:37668 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 ATP5A1P10
ATP5F1AP2, Official Symbol ATP5F1AP2provided by HGNC Official Full Name ATP synthase F1 subunit alpha pseudogene 2provided by HGNC Primary source HGNC:HGNC:828 See related Ensembl:ENSG00000227682 AllianceGenome:HGNC:828 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 ATP5AP2; ATP5A1P2
ATP5F1AP3, Official Symbol ATP5F1AP3provided by HGNC Official Full Name ATP synthase F1 subunit alpha pseudogene 3provided by HGNC Primary source HGNC:HGNC:829 See related Ensembl:ENSG00000263232 AllianceGenome:HGNC:829 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 ATP5AP3; ATP5A1P3
ATP5F1AP4, Official Symbol ATP5F1AP4provided by HGNC Official Full Name ATP synthase F1 subunit alpha pseudogene 4provided by HGNC Primary source HGNC:HGNC:23563 See related Ensembl:ENSG00000258877 AllianceGenome:HGNC:23563 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 ATP5AP4; ATP5A1P4
ATP5F1AP7, Official Symbol ATP5F1AP7provided by HGNC Official Full Name ATP synthase F1 subunit alpha pseudogene 7provided by HGNC Primary source HGNC:HGNC:37665 See related Ensembl:ENSG00000241571 AllianceGenome:HGNC:37665 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 ATP5A1P7; ATP5A1P9
ATP5F1AP8, Official Symbol ATP5F1AP8provided by HGNC Official Full Name ATP synthase F1 subunit alpha pseudogene 8provided by HGNC Primary source HGNC:HGNC:37666 See related Ensembl:ENSG00000234720 AllianceGenome:HGNC:37666 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 ATP5A1P8; ATP5A1P9
ATP5F1B, Official Symbol ATP5F1Bprovided by HGNC Official Full Name ATP synthase F1 subunit betaprovided by HGNC Primary source HGNC:HGNC:830 See related Ensembl:ENSG00000110955 MIM:102910; AllianceGenome:HGNC:830 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 ATP5B; ATPMB; ATPSB; HUMOP2; HEL-S-271 Summary 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. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 713.8), kidney (RPKM 376.0) and 25 other tissues See more Orthologs mouse all
ATP5F1BP1, Official Symbol ATP5F1BP1provided by HGNC Official Full Name ATP synthase F1 subunit beta pseudogene 1provided by HGNC Primary source HGNC:HGNC:831 See related Ensembl:ENSG00000231635 AllianceGenome:HGNC:831 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 ATP5BL1; ATP5BP1; ATPMBL1; ATPSBL1
ATP5F1C, Official Symbol ATP5F1Cprovided by HGNC Official Full Name ATP synthase F1 subunit gammaprovided by HGNC Primary source HGNC:HGNC:833 See related Ensembl:ENSG00000165629 MIM:108729; AllianceGenome:HGNC:833 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 ATP5C; ATP5C1; ATP5CL1 Summary 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. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 224.0), adrenal (RPKM 140.8) and 25 other tissues See more Orthologs mouse all
ATP5F1CP1, Official Symbol ATP5F1CP1provided by HGNC Official Full Name ATP synthase F1 subunit gamma pseudogene 1provided by HGNC Primary source HGNC:HGNC:834 See related Ensembl:ENSG00000224004 AllianceGenome:HGNC:834 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 ATP5C2; ATP5CL2; ATP5C1P1
ATP5F1D, Official Symbol ATP5F1Dprovided by HGNC Official Full Name ATP synthase F1 subunit deltaprovided by HGNC Primary source HGNC:HGNC:837 See related Ensembl:ENSG00000099624 MIM:603150; AllianceGenome:HGNC:837 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 ATP5D; MC5DN5 Summary 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. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 30.9), colon (RPKM 30.8) and 25 other tissues See more Orthologs mouse all
ATP5F1E, Official Symbol ATP5F1Eprovided by HGNC Official Full Name ATP synthase F1 subunit epsilonprovided by HGNC Primary source HGNC:HGNC:838 See related Ensembl:ENSG00000124172 MIM:606153; AllianceGenome:HGNC:838 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 ATPE; ATP5E; MC5DN3 Summary 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. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011] Expression Ubiquitous expression in colon (RPKM 289.1), fat (RPKM 288.7) and 25 other tissues See more Orthologs mouse all
ATP5IF1, Official Symbol ATP5IF1provided by HGNC Official Full Name ATP synthase inhibitory factor subunit 1provided by HGNC Primary source HGNC:HGNC:871 See related Ensembl:ENSG00000130770 MIM:614981; AllianceGenome:HGNC:871 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 IP; ATPI; ATPIP; ATPIF1 Summary Enables several functions, including ATPase binding activity; angiostatin binding activity; and mitochondrial proton-transporting ATP synthase complex binding activity. Involved in several processes, including mitochondrial depolarization; negative regulation of ATPase activity; and regulation of protein targeting to mitochondrion. Located in cell surface and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 44.4), colon (RPKM 33.7) and 25 other tissues See more Orthologs mouse all
ATP5MC1, Official Symbol ATP5MC1provided by HGNC Official Full Name ATP synthase membrane subunit c locus 1provided by HGNC Primary source HGNC:HGNC:841 See related Ensembl:ENSG00000159199 MIM:603192; AllianceGenome:HGNC:841 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 ATP5A; ATP5G; ATP5G1 Summary 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. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 134.4), colon (RPKM 81.3) and 24 other tissues See more Orthologs mouse all
ATP5MC1P1, Official Symbol ATP5MC1P1provided by HGNC Official Full Name ATP synthase membrane subunit c locus 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:19815 See related AllianceGenome:HGNC:19815 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 ATP5GP3; ATP5G1P1
ATP5MC1P6, Official Symbol ATP5MC1P6provided by HGNC Official Full Name ATP synthase membrane subunit c locus 1 pseudogene 6provided by HGNC Primary source HGNC:HGNC:39509 See related AllianceGenome:HGNC:39509 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 ATP5G1P6
ATP5MC1P7, Official Symbol ATP5MC1P7provided by HGNC Official Full Name ATP synthase membrane subunit c locus 1 pseudogene 7provided by HGNC Primary source HGNC:HGNC:39510 See related AllianceGenome:HGNC:39510 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 ATP5G1P7
ATP5MC2, Official Symbol ATP5MC2provided by HGNC Official Full Name ATP synthase membrane subunit c locus 2provided by HGNC Primary source HGNC:HGNC:842 See related Ensembl:ENSG00000135390 MIM:603193; AllianceGenome:HGNC:842 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 ATP5A; ATP5G2 Summary 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. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. This gene has multiple pseudogenes. [provided by RefSeq, Jan 2018] Expression Ubiquitous expression in heart (RPKM 34.1), ovary (RPKM 32.8) and 25 other tissues See more Orthologs mouse all
ATP5MC3, Official Symbol ATP5MC3provided by HGNC Official Full Name ATP synthase membrane subunit c locus 3provided by HGNC Primary source HGNC:HGNC:843 See related Ensembl:ENSG00000154518 MIM:602736; AllianceGenome:HGNC:843 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 P3; ATP5G3; DYTSPG Summary 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. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010] Expression Ubiquitous expression in heart (RPKM 80.5), duodenum (RPKM 51.7) and 24 other tissues See more Orthologs mouse all
ATP5ME, Official Symbol ATP5MEprovided by HGNC Official Full Name ATP synthase membrane subunit eprovided by HGNC Primary source HGNC:HGNC:846 See related Ensembl:ENSG00000169020 MIM:601519; AllianceGenome:HGNC:846 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 ATP5I; ATP5K Summary 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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] Expression Ubiquitous expression in colon (RPKM 167.6), kidney (RPKM 153.1) and 25 other tissues See more Orthologs mouse all
ATP5MF, Official Symbol ATP5MFprovided by HGNC Official Full Name ATP synthase membrane subunit fprovided by HGNC Primary source HGNC:HGNC:848 See related Ensembl:ENSG00000241468 MIM:619792; AllianceGenome:HGNC:848 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 ATP5J2; ATP5JL Summary 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 catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in colon (RPKM 103.6), kidney (RPKM 95.9) and 25 other tissues See more Orthologs mouse all
ATP5MF-PTCD1, Official Symbol ATP5MF-PTCD1provided by HGNC Official Full Name ATP5MF-PTCD1 readthroughprovided by HGNC Primary source HGNC:HGNC:38844 See related Ensembl:ENSG00000248919 AllianceGenome:HGNC:38844 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 ATP5J2-PTCD1 Summary This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in testis (RPKM 7.9), colon (RPKM 7.0) and 25 other tissues See more Orthologs all
ATP5MFP1, Official Symbol ATP5MFP1provided by HGNC Official Full Name ATP synthase membrane subunit f pseudogene 1provided by HGNC Primary source HGNC:HGNC:849 See related Ensembl:ENSG00000224421 AllianceGenome:HGNC:849 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 ATP5J2LP Annotation information Note: This locus, originally represented by GeneID:54100, was annotated on the wrong strand in build GRCh37.p10 (Annotation Release 104). GeneID:54100 was discontinued and replaced by GeneID:101241877 on the correct strand. [17 Jun 2014]
ATP5MFP3, Official Symbol ATP5MFP3provided by HGNC Official Full Name ATP synthase membrane subunit f pseudogene 3provided by HGNC Primary source HGNC:HGNC:21286 See related AllianceGenome:HGNC:21286 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 ATP5J2P3; bA159H20.5
ATP5MG, Official Symbol ATP5MGprovided by HGNC Official Full Name ATP synthase membrane subunit gprovided by HGNC Primary source HGNC:HGNC:14247 See related Ensembl:ENSG00000167283 MIM:617473; AllianceGenome:HGNC:14247 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 ATP5L; ATP5JG Summary 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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] Expression Ubiquitous expression in heart (RPKM 88.2), kidney (RPKM 80.7) and 25 other tissues See more Orthologs mouse all
ATP5MGL, Official Symbol ATP5MGLprovided by HGNC Official Full Name ATP synthase membrane subunit g likeprovided by HGNC Primary source HGNC:HGNC:13213 See related Ensembl:ENSG00000249222 AllianceGenome:HGNC:13213 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 ATP5K2; ATP5L2 Summary Predicted to enable proton transmembrane transporter activity. Predicted to be involved in ATP synthesis coupled proton transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
ATP5MGP3, Official Symbol ATP5MGP3provided by HGNC Official Full Name ATP synthase membrane subunit g pseudogene 3provided by HGNC Primary source HGNC:HGNC:13216 See related Ensembl:ENSG00000249256 AllianceGenome:HGNC:13216 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 ATP5KP3; ATP5LP3; ATPE5KP3
ATP5MGP5, Official Symbol ATP5MGP5provided by HGNC Official Full Name ATP synthase membrane subunit g pseudogene 5provided by HGNC Primary source HGNC:HGNC:38167 See related AllianceGenome:HGNC:38167 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 ATP5LP5
ATP5MGP7, Official Symbol ATP5MGP7provided by HGNC Official Full Name ATP synthase membrane subunit g pseudogene 7provided by HGNC Primary source HGNC:HGNC:38169 See related Ensembl:ENSG00000267189 AllianceGenome:HGNC:38169 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 ATP5LP7
ATP5MJ, Official Symbol ATP5MJprovided by HGNC Official Full Name ATP synthase membrane subunit jprovided by HGNC Primary source HGNC:HGNC:1188 See related Ensembl:ENSG00000156411 MIM:604573; AllianceGenome:HGNC:1188 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 MLQ; MP68; PLPM; 6.8PL; ATP5MPL; C14orf2 Summary Predicted to be located in mitochondrion. Predicted to be integral component of membrane. Predicted to be part of mitochondrial proton-transporting ATP synthase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 56.0), colon (RPKM 47.1) and 25 other tissues See more Orthologs mouse all
ATP5MK, Official Symbol ATP5MKprovided by HGNC Official Full Name ATP synthase membrane subunit kprovided by HGNC Primary source HGNC:HGNC:30889 See related Ensembl:ENSG00000173915 MIM:615204; AllianceGenome:HGNC:30889 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 AGP; DAPIT; USMG5; ATP5MD; MC5DN6; HCVFTP2; bA792D24.4 Summary Located in mitochondrion. Part of mitochondrial proton-transporting ATP synthase complex. Implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 6. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 49.0), colon (RPKM 44.8) and 25 other tissues See more Orthologs mouse all
ATP5PB, Official Symbol ATP5PBprovided by HGNC Official Full Name ATP synthase peripheral stalk-membrane subunit bprovided by HGNC Primary source HGNC:HGNC:840 See related Ensembl:ENSG00000116459 MIM:603270; AllianceGenome:HGNC:840 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 PIG47; ATP5F1 Summary 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. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 107.3), colon (RPKM 76.0) and 25 other tissues See more Orthologs mouse all
ATP5PBP1, Official Symbol ATP5PBP1provided by HGNC Official Full Name ATP synthase peripheral stalk-membrane subunit b pseudogene 1provided by HGNC Primary source HGNC:HGNC:39742 See related Ensembl:ENSG00000224451 AllianceGenome:HGNC:39742 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 ATP5F1P1
ATP5PBP2, Official Symbol ATP5PBP2provided by HGNC Official Full Name ATP synthase peripheral stalk-membrane subunit b pseudogene 2provided by HGNC Primary source HGNC:HGNC:39743 See related Ensembl:ENSG00000214342 AllianceGenome:HGNC:39743 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 ATP5F1P2
ATP5PBP4, Official Symbol ATP5PBP4provided by HGNC Official Full Name ATP synthase peripheral stalk-membrane subunit b pseudogene 4provided by HGNC Primary source HGNC:HGNC:39745 See related Ensembl:ENSG00000214025 AllianceGenome:HGNC:39745 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 ATP5F1P4
ATP5PBP5, Official Symbol ATP5PBP5provided by HGNC Official Full Name ATP synthase peripheral stalk-membrane subunit b pseudogene 5provided by HGNC Primary source HGNC:HGNC:39746 See related AllianceGenome:HGNC:39746 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 ATP5F1P5
ATP5PBP6, Official Symbol ATP5PBP6provided by HGNC Official Full Name ATP synthase peripheral stalk-membrane subunit b pseudogene 6provided by HGNC Primary source HGNC:HGNC:39747 See related AllianceGenome:HGNC:39747 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 ATP5F1P6
ATP5PD, Official Symbol ATP5PDprovided by HGNC Official Full Name ATP synthase peripheral stalk subunit dprovided by HGNC Primary source HGNC:HGNC:845 See related Ensembl:ENSG00000167863 MIM:618121; AllianceGenome:HGNC:845 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 ATPQ; APT5H; ATP5H Summary 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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010] Expression Ubiquitous expression in heart (RPKM 220.3), kidney (RPKM 160.7) and 25 other tissues See more Orthologs mouse all
ATP5PDP1, Official Symbol ATP5PDP1provided by HGNC Official Full Name ATP synthase peripheral stalk subunit d pseudogene 1provided by HGNC Primary source HGNC:HGNC:31021 See related Ensembl:ENSG00000261679 AllianceGenome:HGNC:31021 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 ATP5HP1; HsT18164
ATP5PDP2, Official Symbol ATP5PDP2provided by HGNC Official Full Name ATP synthase peripheral stalk subunit d pseudogene 2provided by HGNC Primary source HGNC:HGNC:49624 See related Ensembl:ENSG00000229184 AllianceGenome:HGNC:49624 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 ATP5HP2
ATP5PDP3, Official Symbol ATP5PDP3provided by HGNC Official Full Name ATP synthase peripheral stalk subunit d pseudogene 3provided by HGNC Primary source HGNC:HGNC:49625 See related Ensembl:ENSG00000213954 AllianceGenome:HGNC:49625 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 ATP5HP3
ATP5PDP4, Official Symbol ATP5PDP4provided by HGNC Official Full Name ATP synthase peripheral stalk subunit d pseudogene 4provided by HGNC Primary source HGNC:HGNC:49626 See related AllianceGenome:HGNC:49626 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 ATP5HP4
ATP5PF, Official Symbol ATP5PFprovided by HGNC Official Full Name ATP synthase peripheral stalk subunit F6provided by HGNC Primary source HGNC:HGNC:847 See related Ensembl:ENSG00000154723 MIM:603152; AllianceGenome:HGNC:847 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 F6; CF6; ATP5; ATPM; ATP5A; ATP5J Summary 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] Expression Ubiquitous expression in heart (RPKM 71.0), kidney (RPKM 49.2) and 25 other tissues See more Orthologs mouse all
ATP5PO, Official Symbol ATP5POprovided by HGNC Official Full Name ATP synthase peripheral stalk subunit OSCPprovided by HGNC Primary source HGNC:HGNC:850 See related Ensembl:ENSG00000241837 MIM:600828; AllianceGenome:HGNC:850 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 ATPO; OSCP; ATP5O; MC5DN7; HMC08D05 Summary The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 296.0), duodenum (RPKM 137.0) and 25 other tissues See more Orthologs mouse all
ATP5POP1, Official Symbol ATP5POP1provided by HGNC Official Full Name ATP5PO pseudogene 1provided by HGNC Primary source HGNC:HGNC:54673 See related Ensembl:ENSG00000159186 AllianceGenome:HGNC:54673 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATP6AP1, Official Symbol ATP6AP1provided by HGNC Official Full Name ATPase H+ transporting accessory protein 1provided by HGNC Primary source HGNC:HGNC:868 See related Ensembl:ENSG00000071553 MIM:300197; AllianceGenome:HGNC:868 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 16A; CF2; Ac45; XAP3; XAP-3; ATP6S1; VATPS1; ATP6IP1 Summary This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in brain (RPKM 59.1), thyroid (RPKM 48.0) and 25 other tissues See more Orthologs mouse all
ATP6AP2, Official Symbol ATP6AP2provided by HGNC Official Full Name ATPase H+ transporting accessory protein 2provided by HGNC Primary source HGNC:HGNC:18305 See related Ensembl:ENSG00000182220 MIM:300556; AllianceGenome:HGNC:18305 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 PRR; M8-9; MRXE; RENR; XMRE; XPDS; CDG2R; HT028; MRXSH; ELDF10; ATP6IP2; MSTP009; APT6M8-9; ATP6M8-9 Summary This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 105.0), brain (RPKM 83.3) and 25 other tissues See more Orthologs mouse all
ATP6V0A1, Official Symbol ATP6V0A1provided by HGNC Official Full Name ATPase H+ transporting V0 subunit a1provided by HGNC Primary source HGNC:HGNC:865 See related Ensembl:ENSG00000033627 MIM:192130; AllianceGenome:HGNC:865 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 a1; Stv1; VPP1; Vph1; ATP6N1; DEE104; NEDEBA; ATP6N1A 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 A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 46.5), kidney (RPKM 12.3) and 23 other tissues See more Orthologs mouse all
ATP6V0A2, Official Symbol ATP6V0A2provided by HGNC Official Full Name ATPase H+ transporting V0 subunit a2provided by HGNC Primary source HGNC:HGNC:18481 See related Ensembl:ENSG00000185344 MIM:611716; AllianceGenome:HGNC:18481 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 A2; RTF; TJ6; WSS; a2V; ARCL; J6B7; STV1; TJ6M; TJ6S; VPH1; ARCL2A; ATP6A2; ATP6N1D Summary The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Expression Ubiquitous expression in lymph node (RPKM 4.1), duodenum (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
ATP6V0A4, Official Symbol ATP6V0A4provided by HGNC Official Full Name ATPase H+ transporting V0 subunit a4provided by HGNC Primary source HGNC:HGNC:866 See related Ensembl:ENSG00000105929 MIM:605239; AllianceGenome:HGNC:866 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 A4; STV1; VPH1; VPP2; DRTA3; RTA1C; RTADR; ATP6N2; RDRTA2; ATP6N1B 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 28.8), salivary gland (RPKM 15.2) and 1 other tissue See more Orthologs mouse all
ATP6V0B, Official Symbol ATP6V0Bprovided by HGNC Official Full Name ATPase H+ transporting V0 subunit bprovided by HGNC Primary source HGNC:HGNC:861 See related Ensembl:ENSG00000117410 MIM:603717; AllianceGenome:HGNC:861 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 ATP6F; HATPL; VMA16 Summary This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Ubiquitous expression in bone marrow (RPKM 52.4), kidney (RPKM 31.0) and 25 other tissues See more Orthologs mouse all