| Tbio | V-type proton ATPase catalytic subunit A |
Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| lung carcinoma | 2843 | 5.9e-19 |
| oligodendroglioma | 2850 | 7.1e-08 |
| acute quadriplegic myopathy | 1158 | 2.2e-07 |
| atypical teratoid / rhabdoid tumor | 5112 | 8.1e-07 |
| sonic hedgehog group medulloblastoma | 467 | 2.1e-05 |
| osteosarcoma | 7950 | 3.1e-05 |
| glioblastoma | 5792 | 3.0e-04 |
| ovarian cancer | 8520 | 3.0e-04 |
| psoriasis | 6694 | 2.1e-03 |
| astrocytic glioma | 2597 | 3.5e-03 |
| ependymoma | 4679 | 4.6e-03 |
| Pick disease | 1894 | 5.4e-03 |
| Gaucher disease type 1 | 180 | 3.5e-02 |
| Bipolar Disorder | 666 | 4.3e-02 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | 1.202 | 2.2e-07 |
| astrocytic glioma | -1.300 | 3.5e-03 |
| atypical teratoid / rhabdoid tumor | -1.200 | 8.1e-07 |
| Bipolar Disorder | -1.800 | 4.3e-02 |
| ependymoma | -1.300 | 4.6e-03 |
| Gaucher disease type 1 | -1.100 | 3.5e-02 |
| glioblastoma | -1.800 | 3.0e-04 |
| lung carcinoma | 1.100 | 5.9e-19 |
| oligodendroglioma | -1.200 | 7.1e-08 |
| osteosarcoma | 3.834 | 3.1e-05 |
| ovarian cancer | -1.200 | 3.0e-04 |
| Pick disease | -1.100 | 5.4e-03 |
| psoriasis | 1.100 | 2.1e-03 |
| sonic hedgehog group medulloblastoma | -1.100 | 2.1e-05 |
MDFSKLPKILDEDKESTFGYVHGVSGPVVTACDMAGAAMYELVRVGHSELVGEIIRLEGDMATIQVYEET 1 - 70 SGVSVGDPVLRTGKPLSVELGPGIMGAIFDGIQRPLSDISSQTQSIYIPRGVNVSALSRDIKWDFTPCKN 71 - 140 LRVGSHITGGDIYGIVSENSLIKHKIMLPPRNRGTVTYIAPPGNYDTSDVVLELEFEGVKEKFTMVQVWP 141 - 210 VRQVRPVTEKLPANHPLLTGQRVLDALFPCVQGGTTAIPGAFGCGKTVISQSLSKYSNSDVIIYVGCGER 211 - 280 GNEMSEVLRDFPELTMEVDGKVESIMKRTALVANTSNMPVAAREASIYTGITLSEYFRDMGYHVSMMADS 281 - 350 TSRWAEALREISGRLAEMPADSGYPAYLGARLASFYERAGRVKCLGNPEREGSVSIVGAVSPPGGDFSDP 351 - 420 VTSATLGIVQVFWGLDKKLAQRKHFPSVNWLISYSKYMRALDEYYDKHFTEFVPLRTKAKEILQEEEDLA 421 - 490 EIVQLVGKASLAETDKITLEVAKLIKDDFLQQNGYTPYDRFCPFYKTVGMLSNMIAFYDMARRAVETTAQ 491 - 560 SDNKITWSIIREHMGDILYKLSSMKFKDPLKDGEAKIKSDYAQLLEDMQNAFRSLED 561 - 617 //
