{ "uniprot_canonical_ac": "Q9VHG4-1", "uniprot_ac": "Q9VHG4", "uniprot_id": "RENR_DROME", "mass": { "chemical_mass": 34421.0, "monoisotopic_mass": 34421.0 }, "refseq": { "ac": "NP_649876", "name": "ATPase H+ transporting accessory protein 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_649876" }, "gene_names": [ { "name": "ATP6AP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9VHG4", "id": "Q9VHG4" }, { "name": "ATP6AP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_649876", "id": "NP_649876" }, { "name": "CG8444; Dmel\\CG8444; dPRR; VhaM8-9; vhaM8.9; VhaM8.9; VhaPRR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_649876", "id": "NP_649876" }, { "name": "CG8444", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VHG4", "id": "Q9VHG4" }, { "name": "VhaM8-9", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VHG4", "id": "Q9VHG4" }, { "name": "VhaM8.9", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VHG4", "id": "Q9VHG4" }, { "name": "VhaPRR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VHG4", "id": "Q9VHG4" } ], "protein_names": [ { "name": "ATPase H(+)-transporting accessory protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9VHG4" }, { "name": "ATPase H+ transporting accessory protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_649876", "id": "NP_649876" }, { "name": "CG8444-PA; ATP6AP2-PA; vacuolar H[+] ATPase M8.9 accessory subunit; drosophila homologue of prorenin receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_649876", "id": "NP_649876" }, { "name": "Renin homolog receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9VHG4" }, { "name": "dPRR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9VHG4" } ], "function": [ { "annotation": "Multifunctional protein which functions as transmembrane receptor in the planar cell polarity (PCP) and is involved in the assembly of the proton-transporting vacuolar (V)-ATPase protein pump (PubMed:20579883, PubMed:20579879, PubMed:29127204, PubMed:29995586). As transmembrane receptor mediates fz/PCP signaling through interaction with fz and stabilizes asymmetric PCP domains through its interaction with stan (PubMed:20579883, PubMed:20579879, PubMed:23292348, PubMed:29995586). Also mediates Wnt/beta-cat signaling through interaction with fz/fz2 (PubMed:20579883, PubMed:20579879). Probably by controlling the assembly of the V-ATPase pump and thus the acidification of the endo-lysosomal system, plays a role in many neuronal processes including synapse morphology and synaptic transmission (PubMed:26376863).", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4#function" }, { "database": "PubMed", "id": "23292348", "url": "https://glygen.org/publication/PubMed/23292348" }, { "database": "PubMed", "id": "29127204", "url": "https://glygen.org/publication/PubMed/29127204" }, { "database": "PubMed", "id": "26376863", "url": "https://glygen.org/publication/PubMed/26376863" }, { "database": "PubMed", "id": "20579879", "url": "https://glygen.org/publication/PubMed/20579879" }, { "database": "PubMed", "id": "20579883", "url": "https://glygen.org/publication/PubMed/20579883" }, { "database": "PubMed", "id": "29995586", "url": "https://glygen.org/publication/PubMed/29995586" } ] }, { "annotation": "Stabilizes asymmetric Planar Cell Polarity (PCP) domains through its interaction with stan.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4#function" }, { "database": "PubMed", "id": "23292348", "url": "https://glygen.org/publication/PubMed/23292348" } ] } ], "disease": [ { "disease_id": "DOID:0050571", "recommended_name": { "id": "DOID:0050571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050571", "name": "congenital disorder of glycosylation type II", "description": "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain." }, "synonyms": [ { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "MGAT2-congenital disorder of glycosylation", "description": "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)." }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "CDG syndrome type IIa", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "CDG-IIa", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "CDG2A", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "MGAT2-CDG", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "N-acetylglucosaminyltransferase 2 deficiency", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "carbohydrate deficient glycoprotein syndrome type IIa", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "congenital disorder of glycosylation type 2a", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "congenital disorder of glycosylation type IIa", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "Alkuraya syndrome", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "CDG 2A", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "CDG IIa", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "CDGS2", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "MGAT2-CDG (CDG-IIa)", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "carbohydrate-deficient glycoprotein syndrome type 2", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "carbohydrate-deficient glycoprotein syndrome, type II", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "carbohydrate-deficient glycoprotein syndrome, type II, formerly", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "congenital disorder of glycosylation, type IIa", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "intellectual disability, Growth retardation, prominent columella, and open mouth", "description": "" }, { "id": "MONDO:0008908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008908", "name": "mental retardation, Growth retardation, prominent columella, and open mouth", "description": "" }, { "id": "MIM:212066", "resource": "MIM", "url": "https://www.omim.org/entry/212066", "name": "Congenital disorder of glycosylation 2A", "description": "Congenital disorder of glycosylation 2A" } ], "evidence": [ { "id": "0050571", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050571" } ] }, { "disease_id": "DOID:0060309", "recommended_name": { "id": "DOID:0060309", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060309", "name": "syndromic X-linked intellectual disability", "description": "A syndromic intellectual characterized by an X-linked inheritance pattern." }, "synonyms": [ { "id": "DOID:0060309", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060309", "name": "syndromic X-linked mental retardation", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "Partington syndrome", "description": "A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person." }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "Partington syndrome", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "Partington syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "Partington-Mulley syndrome", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "X-linked Russell-Silver syndrome", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "X-linked intellectual disability-dystonia-dysarthria syndrome", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "MRXS1", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "PRTS", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "Partington X-linked intellectual disability syndrome", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "Partington X-linked mental retardation syndrome", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "intellectual disability, X-linked 36", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "intellectual disability, X-linked, syndromic 1", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "intellectual disability, X-linked, with dystonic movements, ataxia, and seizures", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "intellectual disability-dystonic movements-ataxia-seizures syndrome", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "mental retardation, X-linked 36", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "mental retardation, X-linked, syndromic 1", "description": "" }, { "id": "MONDO:0010654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "name": "mental retardation, X-linked, with dystonic movements, ataxia, and seizures", "description": "" }, { "id": "MIM:309510", "resource": "MIM", "url": "https://www.omim.org/entry/309510", "name": "Partington syndrome", "description": "Partington syndrome" } ], "evidence": [ { "id": "0060309", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060309" } ] }, { "disease_id": "DOID:0060806", "recommended_name": { "id": "DOID:0060806", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060806", "name": "syndromic X-linked intellectual disability Hedera type", "description": "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11." }, "synonyms": [ { "id": "DOID:0060806", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060806", "name": "mental retardation, X-linked, syndromic, Hedera type", "description": "" }, { "id": "DOID:0060806", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060806", "name": "MRXE", "description": "" }, { "id": "DOID:0060806", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060806", "name": "MRXSH", "description": "" }, { "id": "DOID:0060806", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060806", "name": "X-linked mental retardation with epilepsy", "description": "" }, { "id": "MONDO:0010319", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010319", "name": "syndromic X-linked intellectual disability Hedera type", "description": "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported." }, { "id": "MONDO:0010319", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010319", "name": "MRXE", "description": "" }, { "id": "MONDO:0010319", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010319", "name": "MRXSH", "description": "" }, { "id": "MONDO:0010319", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010319", "name": "X-linked intellectual disability with epilepsy", "description": "" }, { "id": "MONDO:0010319", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010319", "name": "X-linked mental retardation with epilepsy", "description": "" }, { "id": "MONDO:0010319", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010319", "name": "intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive", "description": "" }, { "id": "MONDO:0010319", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010319", "name": "intellectual disability, X-linked, syndromic, Hedera type", "description": "" }, { "id": "MONDO:0010319", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010319", "name": "mental retardation, X-linked, syndromic, Hedera type", "description": "" }, { "id": "MONDO:0010319", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010319", "name": "X-linked intellectual disability, Hedera type", "description": "" }, { "id": "MONDO:0010319", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010319", "name": "intellectual disability, X-linked, with epilepsy", "description": "" }, { "id": "MONDO:0010319", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010319", "name": "mental retardation, X-linked, with epilepsy", "description": "" }, { "id": "MIM:300423", "resource": "MIM", "url": "https://www.omim.org/entry/300423", "name": "Intellectual developmental disorder, X-linked, syndromic, Hedera type", "description": "Intellectual developmental disorder, X-linked, syndromic, Hedera type" } ], "evidence": [ { "id": "0060806", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060806" } ] }, { "disease_id": "DOID:0112105", "recommended_name": { "id": "DOID:0112105", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112105", "name": "X-linked parkinsonism-spasticity syndrome", "description": "A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4." }, "synonyms": [ { "id": "DOID:0112105", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112105", "name": "XPDS", "description": "" }, { "id": "DOID:0112105", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112105", "name": "X-linked Parkinsonism with spasticity", "description": "" }, { "id": "MONDO:0010482", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010482", "name": "X-linked parkinsonism-spasticity syndrome", "description": "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign." }, { "id": "MONDO:0010482", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010482", "name": "Parkinsonism with spasticity, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010482", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010482", "name": "XPDS", "description": "" }, { "id": "MONDO:0010482", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010482", "name": "PARKINSONISM with spasticity, X-linked", "description": "" }, { "id": "MIM:300911", "resource": "MIM", "url": "https://www.omim.org/entry/300911", "name": "Parkinsonism with spasticity, X-linked", "description": "Parkinsonism with spasticity, X-linked" } ], "evidence": [ { "id": "0112105", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112105" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:5212", "recommended_name": { "id": "DOID:5212", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5212", "name": "congenital disorder of glycosylation", "description": "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids." }, "synonyms": [ { "id": "DOID:5212", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5212", "name": "carbohydrate-deficient glycoprotein syndrome", "description": "" } ], "evidence": [ { "id": "5212", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5212" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 248, "end_pos": 248, "sequence_org": "R", "sequence_mut": "A", "comment": "Prevents cleavage; when associated with A-251.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" }, { "database": "PubMed", "id": "23292348", "url": "https://glygen.org/publication/PubMed/23292348" }, { "database": "PubMed", "id": "29127204", "url": "https://glygen.org/publication/PubMed/29127204" } ] }, { "start_pos": 251, "end_pos": 251, "sequence_org": "R", "sequence_mut": "A", "comment": "Prevents cleavage; when associated with A-248.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" }, { "database": "PubMed", "id": "23292348", "url": "https://glygen.org/publication/PubMed/23292348" }, { "database": "PubMed", "id": "29127204", "url": "https://glygen.org/publication/PubMed/29127204" } ] }, { "start_pos": 299, "end_pos": 320, "sequence_org": "AMDPGRDSIIYRMTSTRIKKDN", "sequence_mut": "", "comment": "Lethal in the late larval stage with few adult escapers showing poor mobility, decreased or absent climbing capabilities, blistered wings, reduced head size and death within 3-4 days after eclosion. Impairs localization to the endoplasmic reticulum, enhances cleavage and protein stability.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" }, { "database": "PubMed", "id": "29127204", "url": "https://glygen.org/publication/PubMed/29127204" }, { "database": "PubMed", "id": "29995586", "url": "https://glygen.org/publication/PubMed/29995586" } ] }, { "start_pos": 317, "end_pos": 320, "sequence_org": "KKDN", "sequence_mut": "", "comment": "Survive till late pupal stage. Impairs localization to the endoplasmic reticulum and autophagy degradation. In the fat body, increases lipid droplets size and total triglycerides.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" }, { "database": "PubMed", "id": "29127204", "url": "https://glygen.org/publication/PubMed/29127204" }, { "database": "PubMed", "id": "29995586", "url": "https://glygen.org/publication/PubMed/29995586" } ] }, { "start_pos": 98, "end_pos": 98, "sequence_org": "L", "sequence_mut": "S", "comment": "Reduces protein stability and increases N-glycosylation levels of proteins which targets the misfolded protein to degradation. Impairs autophagy and mTOR signaling. Reduces eclosion rate with few adult escapers showing poor mobility, decreased or absent climbing capabilities, blistered winds and reduced size and death within 3-4 days. In the brain, results in neural development defects in the optic lobe. In the fat body, increases lipid droplets size and total triglycerides.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" }, { "database": "PubMed", "id": "29127204", "url": "https://glygen.org/publication/PubMed/29127204" } ] } ], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "ATP6AP2", "url": "https://www.uniprot.org/uniprot/Q9VHG4", "locus": { "chromosome": "3R", "start_pos": 9262590, "end_pos": 9260638, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0037671", "url": "https://www.ensembl.org/id/FBgn0037671" } ] } } ], "crossref": [ { "id": "FBgn0037671", "url": "https://bgee.org/?page=gene&gene_id=FBgn0037671", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "FBgn0037671", "url": "https://flybase.org/reports/FBgn0037671", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "41104", "url": "https://www.ncbi.nlm.nih.gov/gene/41104", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR012493", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012493", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG8444", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG8444", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "RMTSTRM", "url": "https://omabrowser.org/oma/group/RMTSTRM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3605032at2759", "url": "http://www.orthodb.org/?query=3605032at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13351", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13351", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13351:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13351:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07850", "url": "http://pfam.xfam.org/family/PF07850", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q9VHG4", "url": "http://purl.obolibrary.org/obo/PR_Q9VHG4", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-DME-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_649876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_649876", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VHG4-1", "url": "https://www.uniprot.org/uniprot/Q9VHG4-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLRVFVIFSLFIAAINASGEFTVLNRPKAISFKGNDALESHYVGDVLYASMGNAVSGDTNWNGLTINDPFNLAKGVILVHVQGIGHVTTAGNVKTYELTGSGTDASLNALAAELEAANEPVCDINFEQFDDGVQAWKSCFGDFEAPAAKPTKHLNPSLHTADKQFLQEVGFINSAADHLAEMAKPSNVLMLRVSVDGVAKAHGEKSVAVEEANKLLSAAISRLLAASQKSSDSVLFVQTTEKDVAASRAKRDTIAASTTNPYNLAVYYGSDYPVIFNIILWFMVVFGLSLLAICYAIAAMDPGRDSIIYRMTSTRIKKDN", "length": 320, "header": "sp|Q9VHG4-1|RENR_DROME Isoform 1 of ATPase H(+)-transporting accessory protein 2 OS=Drosophila melanogaster OX=7227 GN=ATP6AP2 PE=1 SV=1 CANONICAL=Q9VHG4-1" }, "isoforms": [ { "isoform_ac": "Q9VHG4-1", "url": "", "sequence": { "sequence": "MLRVFVIFSLFIAAINASGEFTVLNRPKAISFKGNDALESHYVGDVLYASMGNAVSGDTNWNGLTINDPFNLAKGVILVHVQGIGHVTTAGNVKTYELTGSGTDASLNALAAELEAANEPVCDINFEQFDDGVQAWKSCFGDFEAPAAKPTKHLNPSLHTADKQFLQEVGFINSAADHLAEMAKPSNVLMLRVSVDGVAKAHGEKSVAVEEANKLLSAAISRLLAASQKSSDSVLFVQTTEKDVAASRAKRDTIAASTTNPYNLAVYYGSDYPVIFNIILWFMVVFGLSLLAICYAIAAMDPGRDSIIYRMTSTRIKKDN", "length": 320, "header": "sp|Q9VHG4-1|RENR_DROME Isoform 1 of ATPase H(+)-transporting accessory protein 2 OS=Drosophila melanogaster OX=7227 GN=ATP6AP2 PE=1 SV=1 CANONICAL=Q9VHG4-1" }, "locus": { "chromosome": "3R", "start_pos": 9262169, "end_pos": 9260725, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0081978", "url": "https://www.ensembl.org/id/FBtr0081978" }, { "database": "Ensembl Peptide", "id": "FBpp0081458", "url": "https://www.ensembl.org/id/FBpp0081458" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "A Drosophila full-length cDNA resource.", "journal": "Genome Biol.", "date": "2002", "authors": "Stapleton M, Carlson J, Brokstein P, Yu C, Champe M, George R, Guarin H, Kronmiller B, Pacleb J, Park S, Wan K, Rubin GM, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "reference": [ { "type": "PubMed", "id": "12537569", "url": "https://glygen.org/publication/PubMed/12537569" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "Regulation of Frizzled-dependent planar polarity signaling by a V-ATPase subunit.", "journal": "Curr. Biol.", "date": "2010", "authors": "Walz G., Simons M., Hermle T., Gruenewald J., Saltukoglu D.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "reference": [ { "type": "PubMed", "id": "20579879", "url": "https://glygen.org/publication/PubMed/20579879" } ] }, { "title": "Wnt/Frizzled signaling requires dPRR, the Drosophila homolog of the prorenin receptor.", "journal": "Curr. Biol.", "date": "2010", "authors": "Boutros M., Bartscherer K., Niehrs C., Ohkawara B., Spirohn K., Buechling T., Chaudhary V.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "reference": [ { "type": "PubMed", "id": "20579883", "url": "https://glygen.org/publication/PubMed/20579883" } ] }, { "title": "Drosophila ATP6AP2/VhaPRR functions both as a novel planar cell polarity core protein and a regulator of endosomal trafficking.", "journal": "EMBO J.", "date": "2013", "authors": "Hermle T, Guida MC, Beck S, Helmstadter S, Simons M", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "reference": [ { "type": "PubMed", "id": "23292348", "url": "https://glygen.org/publication/PubMed/23292348" } ] }, { "title": "Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.", "journal": "Hum. Mol. Genet.", "date": "2015", "authors": "Kramer J.M., Schenck A., Stunnenberg H.G., Messaddeq N., Martin C., Castells-Nobau A., Oortveld M.A., Verstreken P., Dubos A., Sigrist S.J., Herault Y., Birling M.C., Quentin C., Humeau Y., Bhukel A., Houbaert X., Iacono G., Lalanne V., Meziane H., Mittelhaeuser C., Selloum M., Slabbert J.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "reference": [ { "type": "PubMed", "id": "26376863", "url": "https://glygen.org/publication/PubMed/26376863" } ] }, { "title": "Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.", "journal": "J. Exp. Med.", "date": "2017", "authors": "Rujano MA, Cannata Serio M, Panasyuk G, Peanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jager S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "reference": [ { "type": "PubMed", "id": "29127204", "url": "https://glygen.org/publication/PubMed/29127204" } ] }, { "title": "ATP6AP2 functions as a V-ATPase assembly factor in the endoplasmic reticulum.", "journal": "Mol. Biol. Cell", "date": "2018", "authors": "Guida MC, Hermle T, Graham LA, Hauser V, Ryan M, Stevens TH, Simons M", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "reference": [ { "type": "PubMed", "id": "29995586", "url": "https://glygen.org/publication/PubMed/29995586" } ] } ], "pathway": [ { "id": "dme:Dmel_CG8444", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG8444", "resource": "KEGG Pathway" }, { "id": "R-DME-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 15, "go_terms": [ { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase complex assembly", "id": "GO:0070072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070072", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "protein localization involved in establishment of planar polarity", "id": "GO:0090251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090251", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "axonal transport", "id": "GO:0098930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098930", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "phototaxis", "id": "GO:0042331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042331", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "establishment of body hair or bristle planar orientation", "id": "GO:0048104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048104", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "establishment of imaginal disc-derived wing hair orientation", "id": "GO:0001737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001737", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "imaginal disc-derived wing hair organization", "id": "GO:0035317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035317", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase complex", "id": "GO:0016471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016471", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprot/Q9VHG4" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 16, "end_pos": 18, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Proteolytically cleaved by a furin-like convertase in the trans-Golgi network to generate N- and C-terminal fragments (PubMed:23292348, PubMed:29127204). 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