ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 [Homo sapiens (human)]
| Gene Symbol | ATP6V1B2 |
| Entrez Gene ID | 526 |
| Full Name | ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 |
| Synonyms | ATP6B1B2, ATP6B2, HO57, VATB, VPP3, Vma2 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
8 8p21.3 |
| 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]. |
| Disorder | MIM: 606939 |
| mRNA | NM_001693, 87159809 |
| Protein | NP_001684, 19913428 |
| Product | V-type proton ATPase subunit B, brain isoform |
| RefSeq Status | REVIEWED |
| hsa04966 | Collecting duct acid secretion |
| hsa04145 | Phagosome |
| hsa05323 | Rheumatoid arthritis |
| hsa01100 | Metabolic pathways |
| hsa05120 | Epithelial cell signaling in Helicobacter pylori infection |
| hsa00190 | Oxidative phosphorylation |
| hsa05110 | Vibrio cholerae infection |
Reactome
| REACT_15518 | Transmembrane transport of small molecules |
| REACT_25060 | Iron uptake and transport |
| REACT_25283 | Transferrin endocytosis and recycling |
| REACT_1109 | Insulin receptor recycling |
| REACT_498 | Signaling by Insulin receptor |
| Homo sapiens (human) | ATP6V1B2 | NP_001684.2 |
| Pan troglodytes (chimpanzee) | ATP6V1B2 | XP_519638.2 |
| Canis lupus familiaris (dog) | ATP6V1B2 | XP_543263.2 |
| Bos taurus (cattle) | ATP6V1B2 | NP_788844.2 |
| Mus musculus (house mouse) | Atp6v1b2 | NP_031535.2 |
| Rattus norvegicus (Norway rat) | Atp6v1b2 | NP_476561.1 |
| Gallus gallus (chicken) | ATP6V1B2 | XP_424534.2 |
| Danio rerio (zebrafish) | LOC100332756 | XP_002663572.1 |
| Danio rerio (zebrafish) | atp6v1b2 | NP_878299.1 |
| Drosophila melanogaster (fruit fly) | Vha55 | NP_001163597.1 |
| Caenorhabditis elegans | vha-12 | NP_508711.1 |
| Caenorhabditis elegans | tag-300 | NP_491518.1 |
| Arabidopsis thaliana (thale cress) | AT1G76030 | NP_177729.1 |
| Arabidopsis thaliana (thale cress) | AT1G20260 | NP_173451.5 |
| ID | Name | Evidence |
| GO:0006811 | ion transport | IEA |
| GO:0006879 | cellular iron ion homeostasis | TAS |
| GO:0008286 | insulin receptor signaling pathway | TAS |
| GO:0015991 | ATP hydrolysis coupled proton transport | IEA |
| GO:0015992 | proton transport | TAS |
| GO:0033572 | transferrin transport | EXP |
| GO:0046034 | ATP metabolic process | IEA |
| GO:0055085 | transmembrane transport | TAS |
Component
| ID | Name | Evidence |
| GO:0005794 | Golgi apparatus | IDA |
| GO:0005829 | cytosol | EXP |
| GO:0005829 | cytosol | ISS |
| GO:0005829 | cytosol | TAS |
| GO:0005886 | plasma membrane | ISS |
| GO:0012505 | endomembrane system | IEA |
| GO:0016021 | integral to membrane | IEA |
| GO:0033180 | proton-transporting V-type ATPase, V1 domain | IEA |
| GO:0042470 | melanosome | IEA |
| GO:0043231 | intracellular membrane-bounded organelle | IDA |
Function
| ID | Name | Evidence |
| GO:0005524 | ATP binding | IEA |
| GO:0015078 | hydrogen ion transmembrane transporter activity | TAS |
| GO:0016787 | hydrolase activity | IEA |
| GO:0016820 | hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances | IEA |
| GO:0046933 | hydrogen ion transporting ATP synthase activity, rotational mechanism | IEA |
| GO:0046961 | proton-transporting ATPase activity, rotational mechanism | IEA |
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