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V-type proton ATPase catalytic subunit A
Summary
- UniProt ID
- P38606
- Gene Symbol
-
- ATP6V1A
- ATP6A1
- ATP6V1A1
- VPP2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Acetylation
- Alternative splicing
- Cytoplasm
- Cytoplasmic vesicle
- Disease variant
- Epilepsy
- Hydrogen ion transport
- Lysosome
- Membrane
- Phosphoprotein
- Reference proteome
- Translocase
- Gene Ontology (GO)
| GO Term |
|---|
| cytosol |
| proton-transporting two-sector ATPase complex |
| vacuolar proton-transporting V-type ATPase, V1 domain |
| nucleoplasm |
| endosome membrane |
| clathrin-coated vesicle membrane |
| lysosomal membrane |
| plasma membrane |
| microvillus |
| membrane |
Sequence
MDFSKLPKILDEDKESTFGYVHGVSGPVVTACDMAGAAMYELVRVGHSELVGEIIRLEGDMATIQVYEETSGVSVGDPVLRTGKPLSVELGPGIMGAIFDGIQRPLSDISSQTQSIYIPRGVNVSALSRDIKWDFTPCKNLRVGSHITGGDIYGIVSENSLIKHKIMLPPRNRGTVTYIAPPGNYDTSDVVLELEFEGVKEKFTMVQVWPVRQVRPVTEKLPANHPLLTGQRVLDALFPCVQGGTTAIPGAFGCGKTVISQSLSKYSNSDVIIYVGCGERGNEMSEVLRDFPELTMEVDGKVESIMKRTALVANTSNMPVAAREASIYTGITLSEYFRDMGYHVSMMADSTSRWAEALREISGRLAEMPADSGYPAYLGARLASFYERAGRVKCLGNPEREGSVSIVGAVSPPGGDFSDPVTSATLGIVQVFWGLDKKLAQRKHFPSVNWLISYSKYMRALDEYYDKHFTEFVPLRTKAKEILQEEEDLAEIVQLVGKASLAETDKITLEVAKLIKDDFLQQNGYTPYDRFCPFYKTVGMLSNMIAFYDMARRAVETTAQSDNKITWSIIREHMGDILYKLSSMKFKDPLKDGEAKIKSDYAQLLEDMQNAFRSLED
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 257 |
|
|||
| 260 |
|
|||
| 422 |
|
|||
| 423 |
|
|||
| 425 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Amino acids regulate mTORC1 | Homo sapiens |
| Insulin receptor recycling | Homo sapiens |
| Ion channel transport | Homo sapiens |
| ROS and RNS production in phagocytes | Homo sapiens |
| Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy | Homo sapiens |
| Transferrin endocytosis and recycling | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070140 | autosomal recessive cutis laxa type IIC | |
| DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0080326 | familial hypertrophic cardiomyopathy | |
| DOID:0090130 | cortical dysplasia-focal epilepsy syndrome | |
| DOID:0090132 | complex cortical dysplasia with other brain malformations 7 | |
| DOID:0090137 | complex cortical dysplasia with other brain malformations 1 | |
| DOID:0110096 | short-rib thoracic dysplasia 14 with polydactyly | |
| DOID:0110106 | atrial heart septal defect 1 | |
| DOID:0110107 | atrial heart septal defect 2 |
