{
    "uniprot_canonical_ac": "Q99KG7-1",
    "uniprot_ac": "Q99KG7",
    "uniprot_id": "HPS4_MOUSE",
    "mass": {
        "chemical_mass": 72662.0,
        "monoisotopic_mass": 72662.0
    },
    "refseq": {
        "ac": "NP_619587",
        "name": "BLOC-3 complex member HPS4",
        "summary": "",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619587"
    },
    "gene_names": [
        {
            "name": "Hps4",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/Q99KG7",
            "id": "Q99KG7"
        },
        {
            "name": "2010205O06Rik; BLOC-3; C130020P05Rik; le; mKIAA1667",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619587",
            "id": "NP_619587"
        },
        {
            "name": "Hps4",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619587",
            "id": "NP_619587"
        },
        {
            "name": "Le",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/Q99KG7",
            "id": "Q99KG7"
        }
    ],
    "protein_names": [
        {
            "name": "BLOC-3 complex member HPS4",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "Q99KG7"
        },
        {
            "name": "BLOC-3 complex member HPS4",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619587",
            "id": "NP_619587"
        },
        {
            "name": "Hermansky-Pudlak syndrome 4 protein homolog",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "Q99KG7"
        },
        {
            "name": "Le protein",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "Q99KG7"
        },
        {
            "name": "Light-ear protein",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "Q99KG7"
        },
        {
            "name": "hermansky-Pudlak syndrome 4 protein homolog; light-ear protein; light ear; Hermansky-Pudlak syndrome 4 homolog",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619587",
            "id": "NP_619587"
        }
    ],
    "function": [
        {
            "annotation": "Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "Q99KG7",
                    "url": "https://www.uniprot.org/uniprot/Q99KG7#function"
                },
                {
                    "database": "UniProtKB",
                    "id": "Q9NQG7",
                    "url": "https://www.uniprot.org/uniprot/Q9NQG7#function"
                }
            ]
        },
        {
            "annotation": "Results indicate that activation of Rab32/38 by HPS4 (or BLOC-3) is essential for melanogenesis of cultured melanocytes and that Rab9 likely regulates melanogenesis independently of HPS4",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_619587",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619587"
                },
                {
                    "database": "PubMed",
                    "id": "30837268",
                    "url": "https://glygen.org/publication/PubMed/30837268"
                }
            ]
        },
        {
            "annotation": "VARP and Rab9 Are Dispensable for the Rab32/BLOC-3 Dependent Salmonella Killing. Publication Status: Online-Only",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_619587",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619587"
                },
                {
                    "database": "PubMed",
                    "id": "33392103",
                    "url": "https://glygen.org/publication/PubMed/33392103"
                }
            ]
        }
    ],
    "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": "Mus musculus",
            "taxid": 10090,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "Q99KG7",
                    "url": "https://www.uniprot.org/uniprot/Q99KG7"
                }
            ],
            "common_name": "Mouse"
        }
    ],
    "gene": [
        {
            "name": "Hps4",
            "url": "https://www.uniprot.org/uniprot/Q99KG7",
            "locus": {
                "chromosome": "5",
                "start_pos": 112526280,
                "end_pos": 112490949,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Gene",
                        "id": "ENSMUSG00000042328",
                        "url": "https://www.ensembl.org/id/ENSMUSG00000042328"
                    }
                ]
            }
        }
    ],
    "crossref": [
        {
            "id": "ENSMUSG00000042328",
            "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000042328",
            "database": "Bgee",
            "categories": [
                "Gene Expression"
            ]
        },
        {
            "id": "192232",
            "url": "https://www.ncbi.nlm.nih.gov/gene/192232",
            "database": "GeneID",
            "categories": [
                "Genome Annotation"
            ]
        },
        {
            "id": "Q99KG7",
            "url": "https://www.ebi.ac.uk/intact/interactors/id:Q99KG7*",
            "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": "mmu:192232",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:192232",
            "database": "KEGG Pathway",
            "categories": [
                "Enzyme and Pathway"
            ]
        },
        {
            "id": "2177742",
            "url": "http://www.informatics.jax.org/marker/MGI:2177742",
            "database": "MGI",
            "categories": [
                "Organism-specific"
            ]
        },
        {
            "id": "VYACCSP",
            "url": "https://omabrowser.org/oma/group/VYACCSP/",
            "database": "OMA",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "5320453at2759",
            "url": "http://www.orthodb.org/?query=5320453at2759",
            "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": "PR_Q99KG7",
            "url": "http://purl.obolibrary.org/obo/PR_Q99KG7",
            "database": "PRO",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "R-MMU-8876198",
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8876198",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "NP_619587",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619587",
            "database": "RefSeq",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "Q99KG7",
            "url": "https://www.uniprot.org/uniprot/Q99KG7",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "Q99KG7-1",
            "url": "https://www.uniprot.org/uniprot/Q99KG7-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        }
    ],
    "sequence": {
        "sequence": "MATTTPPETKSAAWWNYFFLYDGSKVKGEGDPTRAGICYFYPPQTLLDQQELLCGQLAGVVRCLWDLSGTPPMLIRMRNLKFAIRADGDYLWALGCGVEISDASCRQFLDQLIGFFHFYMGPVSLAYKSHPQEELSLQWDTSITQVLRSTSESHRIFNALWNLDRTKVEPLLLLKAALILQTCQRSPHVLAGCILYKGLIVNSQLLPSLTAKVLLHQTVPADQRLPGAGAAPQETGAALPPDVQITSVFLSEEEVASLHEFPVEHETRLQGSSVQYPPWDQSSPTQAEDAWASAAIPEPTPHDGACPSGSGADERLPRLEQECAGPTGLCTTACGQGSGLSSRLQKELCLSREELDSSEMHVSEAQEAFPPLPALGDLETLHSSHSAPTLPEDTAICSCLHPCPLERLPESGRLGQLADLPLTNGQTQVPGTDPLPSSMPVALPPQHPVGVEPSVEPYGNGAQESHSALPRSSRSPDSPGPSPSADRTGFKPSPSGRHAGLVPMNLYTHSVNGLVLSLLAEETLLSDTAAIEEVYHSSLASLNGLEVHLKETLPRDEASLTSSTYNFLHYDRIQSVLSANLPLVTAPQDRRFLQAVNLMHSDFALLPMLYEMTIRNASTAVYACSSPAQETYFQQLAPTARSSGFPNPQDCAFSLAGKAKQKLLKHGVNLL",
        "length": 671,
        "header": "sp|Q99KG7-1|HPS4_MOUSE Isoform 1 of BLOC-3 complex member HPS4  OS=Mus musculus OX=10090 GN=Hps4 PE=1 SV=2 CANONICAL=Q99KG7-1"
    },
    "isoforms": [
        {
            "isoform_ac": "Q99KG7-1",
            "url": "",
            "sequence": {
                "sequence": "MATTTPPETKSAAWWNYFFLYDGSKVKGEGDPTRAGICYFYPPQTLLDQQELLCGQLAGVVRCLWDLSGTPPMLIRMRNLKFAIRADGDYLWALGCGVEISDASCRQFLDQLIGFFHFYMGPVSLAYKSHPQEELSLQWDTSITQVLRSTSESHRIFNALWNLDRTKVEPLLLLKAALILQTCQRSPHVLAGCILYKGLIVNSQLLPSLTAKVLLHQTVPADQRLPGAGAAPQETGAALPPDVQITSVFLSEEEVASLHEFPVEHETRLQGSSVQYPPWDQSSPTQAEDAWASAAIPEPTPHDGACPSGSGADERLPRLEQECAGPTGLCTTACGQGSGLSSRLQKELCLSREELDSSEMHVSEAQEAFPPLPALGDLETLHSSHSAPTLPEDTAICSCLHPCPLERLPESGRLGQLADLPLTNGQTQVPGTDPLPSSMPVALPPQHPVGVEPSVEPYGNGAQESHSALPRSSRSPDSPGPSPSADRTGFKPSPSGRHAGLVPMNLYTHSVNGLVLSLLAEETLLSDTAAIEEVYHSSLASLNGLEVHLKETLPRDEASLTSSTYNFLHYDRIQSVLSANLPLVTAPQDRRFLQAVNLMHSDFALLPMLYEMTIRNASTAVYACSSPAQETYFQQLAPTARSSGFPNPQDCAFSLAGKAKQKLLKHGVNLL",
                "length": 671,
                "header": "sp|Q99KG7-1|HPS4_MOUSE Isoform 1 of BLOC-3 complex member HPS4  OS=Mus musculus OX=10090 GN=Hps4 PE=1 SV=2 CANONICAL=Q99KG7-1"
            },
            "locus": {
                "chromosome": "5",
                "start_pos": 112525993,
                "end_pos": 112492874,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENSMUST00000112359",
                        "url": "https://www.ensembl.org/id/ENSMUST00000112359"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSMUSP00000107978",
                        "url": "https://www.ensembl.org/id/ENSMUSP00000107978"
                    }
                ]
            }
        }
    ],
    "glycosylation": [],
    "phosphorylation": [],
    "glycation": [],
    "keywords": [],
    "publication": [
        {
            "title": "Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.",
            "journal": "Nat. Genet.",
            "date": "2002",
            "authors": "Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "Q99KG7",
                    "url": "https://www.uniprot.org/uniprot/Q99KG7"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11836498",
                    "url": "https://glygen.org/publication/PubMed/11836498"
                }
            ]
        },
        {
            "title": "Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.",
            "journal": "J. Biol. Chem.",
            "date": "2010",
            "authors": "Kloer DP, Rojas R, Ivan V, Moriyama K, van Vlijmen T, Murthy N, Ghirlando R, van der Sluijs P, Hurley JH, Bonifacino JS",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "Q99KG7",
                    "url": "https://www.uniprot.org/uniprot/Q99KG7"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "20048159",
                    "url": "https://glygen.org/publication/PubMed/20048159"
                }
            ]
        },
        {
            "title": "RUTBC1 functions as a GTPase-activating protein for Rab32/38 and regulates melanogenic enzyme trafficking in melanocytes.",
            "journal": "J. Biol. Chem.",
            "date": "2016",
            "authors": "Marubashi S, Shimada H, Fukuda M, Ohbayashi N",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "Q99KG7",
                    "url": "https://www.uniprot.org/uniprot/Q99KG7"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "26620560",
                    "url": "https://glygen.org/publication/PubMed/26620560"
                }
            ]
        },
        {
            "title": "The BLOC-3 subunit HPS4 is required for activation of Rab32/38 GTPases in melanogenesis, but its Rab9 activity is dispensable for melanogenesis.",
            "journal": "The Journal of biological chemistry",
            "date": "2019",
            "authors": "Ohishi Y, Kinoshita R, Marubashi S, Ishida M, Fukuda M",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_619587",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619587"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "30837268",
                    "url": "https://glygen.org/publication/PubMed/30837268"
                }
            ]
        },
        {
            "title": "VARP and Rab9 Are Dispensable for the Rab32/BLOC-3 Dependent Salmonella Killing.",
            "journal": "Frontiers in cellular and infection microbiology",
            "date": "2020",
            "authors": "Balci A, Solano-Collado V, Baldassarre M, Spano S",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_619587",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619587"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "33392103",
                    "url": "https://glygen.org/publication/PubMed/33392103"
                }
            ]
        }
    ],
    "pathway": [
        {
            "id": "mmu:192232",
            "name": "",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:192232",
            "resource": "KEGG Pathway"
        },
        {
            "id": "R-MMU-8876198",
            "name": "RAB GEFs exchange GTP for GDP on RABs",
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8876198",
            "resource": "Reactome",
            "description": "RAB GEFs exchange GTP for GDP on RABs"
        }
    ],
    "orthologs": [
        {
            "uniprot_canonical_ac": "Q9NQG7-1",
            "protein_name": "BLOC-3 complex member HPS4",
            "gene_name": "HPS4",
            "tax_id": 9606,
            "organism": "Homo sapiens",
            "sequence": {
                "sequence": "MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL",
                "length": 708
            },
            "evidence": [
                {
                    "id": "45232047",
                    "url": "http://www.informatics.jax.org/homology/45232047",
                    "database": "MGI"
                },
                {
                    "id": "Q99KG7",
                    "url": "https://omabrowser.org/oma/group/Q99KG7/",
                    "database": "OMA"
                }
            ],
            "common_name": "Human"
        }
    ],
    "go_annotation": {
        "categories": [
            {
                "name": "Cellular Component",
                "total": 8,
                "go_terms": [
                    {
                        "name": "BLOC-3 complex",
                        "id": "GO:0031085",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031085",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "platelet dense granule",
                        "id": "GO:0042827",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042827",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "cytoplasm",
                        "id": "GO:0005737",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "membrane",
                        "id": "GO:0016020",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "lysosome",
                        "id": "GO:0005764",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "lysosomal membrane",
                        "id": "GO:0005765",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "cytoplasmic vesicle",
                        "id": "GO:0031410",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "melanosome",
                        "id": "GO:0042470",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Biological Process",
                "total": 10,
                "go_terms": [
                    {
                        "name": "melanosome assembly",
                        "id": "GO:1903232",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903232",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "protein targeting",
                        "id": "GO:0006605",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "blood coagulation",
                        "id": "GO:0007596",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "protein stabilization",
                        "id": "GO:0050821",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "lysosome organization",
                        "id": "GO:0007040",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "platelet dense granule organization",
                        "id": "GO:0060155",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060155",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "vesicle-mediated transport",
                        "id": "GO:0016192",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "intracellular transport",
                        "id": "GO:0046907",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046907",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "organelle organization",
                        "id": "GO:0006996",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006996",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "melanocyte differentiation",
                        "id": "GO:0030318",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Molecular Function",
                "total": 4,
                "go_terms": [
                    {
                        "name": "protein homodimerization activity",
                        "id": "GO:0042803",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "protein dimerization activity",
                        "id": "GO:0046983",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "guanyl-nucleotide exchange factor activity",
                        "id": "GO:0005085",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "small GTPase binding",
                        "id": "GO:0031267",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "Q99KG7",
                                "url": "https://www.uniprot.org/uniprot/Q99KG7"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            }
        ]
    },
    "pro_annotation": [],
    "site_annotation": [
        {
            "start_pos": 616,
            "end_pos": 618,
            "annotation": "n_glycosylation_sequon"
        }
    ],
    "ptm_annotation": [],
    "interactions": [],
    "reactions": [],
    "reaction_participants": [],
    "reaction_enzymes": [],
    "biomarkers": [],
    "synthesized_glycans": [],
    "cluster_types": [
        {
            "name": "homologset.mgi",
            "label": "MGI Homologs"
        },
        {
            "name": "homologset.oma",
            "label": "OMA Homologs"
        }
    ],
    "section_stats": [
        {
            "table_id": "glycosylation",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 0
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
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                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "glycosylation_reported",
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                {
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                {
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                    "field": "o_linked_glycan_sites",
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            ],
            "sort_fields": []
        },
        {
            "table_id": "glycosylation_reported_with_glycan",
            "table_stats": [
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                {
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                {
                    "field": "n_linked_glycan_sites",
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                    "field": "n_linked_glycan_sites",
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                {
                    "field": "o_linked_glycans",
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                {
                    "field": "o_linked_glycan_sites",
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            ],
            "sort_fields": []
        },
        {
            "table_id": "glycosylation_automatic_literature_mining",
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                    "field": "total",
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                    "field": "total_sites",
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                {
                    "field": "n_linked_glycan_sites",
                    "count": 0
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                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
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            ],
            "sort_fields": []
        },
        {
            "table_id": "phosphorylation",
            "table_stats": [
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                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
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            ],
            "sort_fields": []
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        {
            "table_id": "snv",
            "table_stats": [
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                {
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        {
            "table_id": "snv_disease",
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