{ "uniprot_canonical_ac": "A1ZAX8-1", "uniprot_ac": "A1ZAX8", "uniprot_id": "A1ZAX8_DROME", "mass": { "chemical_mass": 97010.0, "monoisotopic_mass": 97010.0 }, "refseq": { "ac": "NP_725707", "name": "Hermansky-Pudlak syndrome 4, isoform B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_725707" }, "gene_names": [ { "name": "HPS4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A1ZAX8", "id": "A1ZAX8" }, { "name": "CG4966-RB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1ZAX8", "id": "A1ZAX8" }, { "name": "CG4966; dHPS4; Dmel\\CG4966; NP_725707", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_611246", "id": "NP_611246" }, { "name": "CG4966", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1ZAX8", "id": "A1ZAX8" }, { "name": "Dmel\\CG4966", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1ZAX8", "id": "A1ZAX8" }, { "name": "Dmel_CG4966", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1ZAX8", "id": "A1ZAX8" }, { "name": "HPS4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_611246", "id": "NP_611246" }, { "name": "NP_725707", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1ZAX8", "id": "A1ZAX8" }, { "name": "dHPS4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1ZAX8", "id": "A1ZAX8" } ], "protein_names": [ { "name": "CG4966-PA; HPS4-PA; Hermansky-Pudlak syndrome 4 ortholog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_611246", "id": "NP_611246" }, { "name": "CG4966-PB; HPS4-PB; Hermansky-Pudlak syndrome 4 ortholog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_725707", "id": "NP_725707" }, { "name": "Hermansky-Pudlak syndrome 4, isoform A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_611246", "id": "NP_611246" }, { "name": "Hermansky-Pudlak syndrome 4, isoform A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A1ZAX8" }, { "name": "Hermansky-Pudlak syndrome 4, isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_725707", "id": "NP_725707" } ], "function": [], "disease": [ { "disease_id": "DOID:0060542", "recommended_name": { "id": "DOID:0060542", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060542", "name": "Hermansky-Pudlak syndrome 4", "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1." }, "synonyms": [ { "id": "MONDO:0013556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013556", "name": "Hermansky-Pudlak syndrome 4", "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene." }, { "id": "MONDO:0013556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013556", "name": "HPS4 Hermansky-Pudlak syndrome", "description": "" }, { "id": "MONDO:0013556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013556", "name": "Hermansky-Pudlak syndrome 4", "description": "" }, { "id": "MONDO:0013556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013556", "name": "Hermansky-Pudlak syndrome caused by mutation in HPS4", "description": "" }, { "id": "MONDO:0013556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013556", "name": "Hermansky-Pudlak syndrome type 4", "description": "" }, { "id": "MONDO:0013556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013556", "name": "HPS4", "description": "" }, { "id": "MIM:614073", "resource": "MIM", "url": "https://www.omim.org/entry/614073", "name": "Hermansky-Pudlak syndrome 4", "description": "Hermansky-Pudlak syndrome 4" } ], "evidence": [ { "id": "0060542", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060542" } ] }, { "disease_id": "DOID:2223", "recommended_name": { "id": "DOID:2223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2223", "name": "platelet storage pool deficiency", "description": "" }, "synonyms": [ { "id": "DOID:2223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2223", "name": "Dense body defect", "description": "" }, { "id": "DOID:2223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2223", "name": "Platelet dense granule deficiency", "description": "" }, { "id": "DOID:2223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2223", "name": "Platelet storage pool defect", "description": "" }, { "id": "MONDO:0008495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "name": "platelet storage pool deficiency", "description": "Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic." }, { "id": "MONDO:0008495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "name": "alpha dense granule deficiency", "description": "" }, { "id": "MONDO:0008495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "name": "combined alpha-delta platelet storage pool deficiency", "description": "" }, { "id": "MONDO:0008495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "name": "dense body defect", "description": "" }, { "id": "MONDO:0008495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "name": "platelet dense granule deficiency", "description": "" }, { "id": "MONDO:0008495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "name": "platelet storage pool defect", "description": "" }, { "id": "MONDO:0008495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "name": "alpha delta granule deficiency", "description": "" }, { "id": "MONDO:0008495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "name": "platelet storage pool diseases", "description": "" }, { "id": "MONDO:0008495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "name": "storage pool platelet disease", "description": "" } ], "evidence": [ { "id": "2223", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2223" } ] }, { "disease_id": "DOID:3753", "recommended_name": { "id": "DOID:3753", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3753", "name": "Hermansky-Pudlak syndrome", "description": "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin." }, "synonyms": [ { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "Hermansky-Pudlak syndrome 1", "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene." }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "HPS1 Hermansky-Pudlak syndrome", "description": "" }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "Hermansky-Pudlak syndrome 1", "description": "" }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "Hermansky-Pudlak syndrome caused by mutation in HPS1", "description": "" }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "Hermansky-Pudlak syndrome type 1", "description": "" }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "Delta storage pool disease", "description": "" }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "HPS1", "description": "" }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells", "description": "" }, { "id": "MIM:203300", "resource": "MIM", "url": "https://www.omim.org/entry/203300", "name": "Hermansky-Pudlak syndrome 1", "description": "Hermansky-Pudlak syndrome 1" } ], "evidence": [ { "id": "3753", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3753" } ] }, { "disease_id": "DOID:5419", "recommended_name": { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness." }, "synonyms": [ { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia 12", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia (disease)", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "SCZD", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizoaffective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia with or without an affective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia, susceptibility to", "description": "" }, { "id": "MIM:181500", "resource": "MIM", "url": "https://www.omim.org/entry/181500", "name": "Schizophrenia", "description": "Schizophrenia" } ], "evidence": [ { "id": "5419", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAX8", "url": "https://www.uniprot.org/uniprot/A1ZAX8" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "HPS4", "url": "https://www.uniprot.org/uniprot/A1ZAX8", "locus": { "chromosome": "2R", "start_pos": 17690822, "end_pos": 17683574, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0034261", "url": "https://www.ensembl.org/id/FBgn0034261" } ] } } ], "crossref": [ { "id": "FBgn0034261", "url": "https://bgee.org/?page=gene&gene_id=FBgn0034261", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "FBgn0034261", "url": "https://flybase.org/reports/FBgn0034261", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "37009", "url": "https://www.ncbi.nlm.nih.gov/gene/37009", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "A1ZAX6", "url": "https://www.ebi.ac.uk/intact/interactors/id:A1ZAX6*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "A1ZAX8", "url": "https://www.ebi.ac.uk/intact/interactors/id:A1ZAX8*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR026091", "url": "https://www.ebi.ac.uk/interpro/entry/IPR026091", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043987", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043987", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043989", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043989", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG4966", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG4966", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "LYFHPGW", "url": "https://omabrowser.org/oma/group/LYFHPGW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3088211at2759", "url": "http://www.orthodb.org/?query=3088211at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14407", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14407", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14407:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14407:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF19031", "url": "http://pfam.xfam.org/family/PF19031", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19033", "url": "http://pfam.xfam.org/family/PF19033", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "R-DME-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8876198", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_611246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_611246", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A1ZAX6", "url": "https://www.uniprot.org/uniprot/A1ZAX6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1ZAX6-1", "url": "https://www.uniprot.org/uniprot/A1ZAX6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1ZAX8", "url": "https://www.uniprot.org/uniprot/A1ZAX8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1ZAX8-1", "url": "https://www.uniprot.org/uniprot/A1ZAX8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFRDWRKTKHKRWQKVQQKQQTSILTERETMIVFVYDTECLTDEADDPISAVLYFHPSWVSDSQKVALCGQLMGTSYFLKDCFFNPRILALQNGKFVLKEFGRFILAIGTDRNIGDQLLEHRADLLSSLLKFFHRDVQTLYAQYAAPPALNRRNLSEKLYHIFETYLPMLQRNGNTFQNVPRLRMPKTASHIFLEAIQTLQSCQQTKGILGGAILYHNKVVASQLSDMVTKHLVLTDPLHIRTAAEQVTNHPEFHIPNGVQMLVVYLEHMQYRQLAGEAQRAQNLQMNTAQLTQNGMPFQYAKRKIKRDKSLIFTHIPEEEHAPEQQGAVEQLPPARPKSMRPTHLPLRIKSMQSKELPESGIASINFDETDSYPQFIGRTSVCNTPMTENKVLPVANVMSICANPEDEGKEEDIHNSNGKTHSRRNSLKVDVEKFFQNFISNPNKQLTRRKSSADLQDALRAISKKLNNFTHGLKTDVNRNGSGNGDVSSDSPDFIEDDDKITSRTISDPTYPVFNTNGQQISRSLFQQFLDQYRKLWGVASEQAHEDAELAALVAEFQEFNAEIQKLDEHMRQQAAEASSADRNLNVSAAKTPLDKRSMTLPLKSAGESTFGERASGRSGAGGVPLTPLMAKLSVLALSETTPIEIQTPLTTSKVFPRRSSLKCEDAVDALAALTTAPAQPPGPIQPDGLQRTELYICGQQNMTLLLLMEEGTCQQQQVVQKMFDICVAKFPHMESQLNQTLNVNVEGDNRDGSNYSFMCVDSKWDVLQRNGPWNPLELNILESMHSIHSSGHHLTDLILRSNDSVYYGHKNGRTEFFYKEPTHQINGIPPPSDPIGNIQSRAKSRLERDHSYMLF", "length": 858, "header": "tr|A1ZAX8-1|A1ZAX8_DROME Isoform 1 of Hermansky-Pudlak syndrome 4, isoform A OS=Drosophila melanogaster OX=7227 GN=HPS4 PE=1 SV=1 CANONICAL=A1ZAX8-1" }, "isoforms": [ { "isoform_ac": "A1ZAX6-1", "url": "", "sequence": { "sequence": "MAAKETMIVFVYDTECLTDEADDPISAVLYFHPSWVSDSQKVALCGQLMGTSYFLKDCFFNPRILALQNGKFVLKEFGRFILAIGTDRNIGDQLLEHRADLLSSLLKFFHRDVQTLYAQYAAPPALNRRNLSEKLYHIFETYLPMLQRNGNTFQNVPRLRMPKTASHIFLEAIQTLQSCQQTKGILGGAILYHNKVVASQLSDMVTKHLVLTDPLHIRTAAEQVTNHPEFHIPNGVQMLVVYLEHMQYRQLAGEAQRAQNLQMNTAQLTQNGMPFQYAKRKIKRDKSLIFTHIPEEEHAPEQQGAVEQLPPARPKSMRPTHLPLRIKSMQSKELPESGIASINFDETDSYPQFIGRTSVCNTPMTENKVLPVANVMSICANPEDEGKEEDIHNSNGKTHSRRNSLKVDVEKFFQNFISNPNKQLTRRKSSADLQDALRAISKKLNNFTHGLKTDVNRNGSGNGDVSSDSPDFIEDDDKITSRTISDPTYPVFNTNGQQISRSLFQQFLDQYRKLWGVASEQAHEDAELAALVAEFQEFNAEIQKLDEHMRQQAAEASSADRNLNVSAAKTPLDKRSMTLPLKSAGESTFGERASGRSGAGGVPLTPLMAKLSVLALSETTPIEIQTPLTTSKVFPRRSSLKCEDAVDALAALTTAPAQPPGPIQPDGLQRTELYICGQQNMTLLLLMEEGTCQQQQVVQKMFDICVAKFPHMESQLNQTLNVNVEGDNRDGSNYSFMCVDSKWDVLQRNGPWNPLELNILESMHSIHSSGHHLTDLILRSNDSVYYGHKNGRTEFFYKEPTHQINGIPPPSDPIGNIQSRAKSRLERDHSYMLF", "length": 834, "header": "tr|A1ZAX6-1|A1ZAX8_DROME Computationally mapped isoform of Hermansky-Pudlak syndrome 4, isoform A OS=Drosophila melanogaster OX=7227 GN=HPS4 PE=1 SV=1 CANONICAL=A1ZAX8-1" }, "locus": { "chromosome": "2R", "start_pos": 17690039, "end_pos": 17683718, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0086839", "url": "https://www.ensembl.org/id/FBtr0086839" }, { "database": "Ensembl Peptide", "id": "FBpp0086016", "url": "https://www.ensembl.org/id/FBpp0086016" } ] } }, { "isoform_ac": "A1ZAX8-1", "url": "", "sequence": { "sequence": "MFRDWRKTKHKRWQKVQQKQQTSILTERETMIVFVYDTECLTDEADDPISAVLYFHPSWVSDSQKVALCGQLMGTSYFLKDCFFNPRILALQNGKFVLKEFGRFILAIGTDRNIGDQLLEHRADLLSSLLKFFHRDVQTLYAQYAAPPALNRRNLSEKLYHIFETYLPMLQRNGNTFQNVPRLRMPKTASHIFLEAIQTLQSCQQTKGILGGAILYHNKVVASQLSDMVTKHLVLTDPLHIRTAAEQVTNHPEFHIPNGVQMLVVYLEHMQYRQLAGEAQRAQNLQMNTAQLTQNGMPFQYAKRKIKRDKSLIFTHIPEEEHAPEQQGAVEQLPPARPKSMRPTHLPLRIKSMQSKELPESGIASINFDETDSYPQFIGRTSVCNTPMTENKVLPVANVMSICANPEDEGKEEDIHNSNGKTHSRRNSLKVDVEKFFQNFISNPNKQLTRRKSSADLQDALRAISKKLNNFTHGLKTDVNRNGSGNGDVSSDSPDFIEDDDKITSRTISDPTYPVFNTNGQQISRSLFQQFLDQYRKLWGVASEQAHEDAELAALVAEFQEFNAEIQKLDEHMRQQAAEASSADRNLNVSAAKTPLDKRSMTLPLKSAGESTFGERASGRSGAGGVPLTPLMAKLSVLALSETTPIEIQTPLTTSKVFPRRSSLKCEDAVDALAALTTAPAQPPGPIQPDGLQRTELYICGQQNMTLLLLMEEGTCQQQQVVQKMFDICVAKFPHMESQLNQTLNVNVEGDNRDGSNYSFMCVDSKWDVLQRNGPWNPLELNILESMHSIHSSGHHLTDLILRSNDSVYYGHKNGRTEFFYKEPTHQINGIPPPSDPIGNIQSRAKSRLERDHSYMLF", "length": 858, "header": "tr|A1ZAX8-1|A1ZAX8_DROME Isoform 1 of Hermansky-Pudlak syndrome 4, isoform A OS=Drosophila melanogaster OX=7227 GN=HPS4 PE=1 SV=1 CANONICAL=A1ZAX8-1" }, "locus": { "chromosome": "2R", "start_pos": 17690039, "end_pos": 17686856, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0086840", "url": "https://www.ensembl.org/id/FBtr0086840" }, { "database": "Ensembl Peptide", "id": "FBpp0086017", "url": "https://www.ensembl.org/id/FBpp0086017" } ] } } ], "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 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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": "A1ZAX6", "url": "https://www.uniprot.org/uniprot/A1ZAX6" }, { "database": "UniProtKB", "id": "A1ZAX8", "url": "https://www.uniprot.org/uniprot/A1ZAX8" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "The transposable elements of the Drosophila melanogaster euchromatin: a genomics perspective.", "journal": "Genome Biol.", "date": "2002", "authors": "Kaminker JS, Bergman CM, Kronmiller B, Carlson J, Svirskas R, Patel S, Frise E, Wheeler DA, Lewis SE, Rubin GM, Ashburner M, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "A1ZAX6", "url": 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Biol.", "date": "2005", "authors": "Quesneville H, Bergman CM, Andrieu O, Autard D, Nouaud D, Ashburner M, Anxolabehere D", "evidence": [ { "database": "UniProtKB", "id": "A1ZAX6", "url": "https://www.uniprot.org/uniprot/A1ZAX6" }, { "database": "UniProtKB", "id": "A1ZAX8", "url": "https://www.uniprot.org/uniprot/A1ZAX8" } ], "reference": [ { "type": "PubMed", "id": "16110336", "url": "https://glygen.org/publication/PubMed/16110336" } ] }, { "title": "The Release 5.1 annotation of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Smith CD, Shu S, Mungall CJ, Karpen GH", "evidence": [ { "database": "UniProtKB", "id": "A1ZAX6", "url": "https://www.uniprot.org/uniprot/A1ZAX6" }, { "database": "UniProtKB", "id": "A1ZAX8", "url": "https://www.uniprot.org/uniprot/A1ZAX8" } ], "reference": [ { "type": "PubMed", "id": "17569856", "url": "https://glygen.org/publication/PubMed/17569856" } ] }, { "title": "Sequence finishing and mapping of Drosophila 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