{
"uniprot_canonical_ac": "A0A0R4IZE2-1",
"uniprot_ac": "A0A0R4IZE2",
"uniprot_id": "A0A0R4IZE2_DANRE",
"mass": {
"chemical_mass": 111876.0,
"monoisotopic_mass": 111876.0
},
"refseq": {
"ac": "NP_001180471",
"name": "BLOC-2 complex member HPS3",
"summary": "",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180471"
},
"gene_names": [
{
"name": "hps3",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprotkb/A0A0R4IZE2",
"id": "A0A0R4IZE2"
},
{
"name": "hps3",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180471",
"id": "NP_001180471"
},
{
"name": "zgc:152969",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180471",
"id": "NP_001180471"
},
{
"name": "zgc:152969",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprotkb/A0A0R4IZE2",
"id": "A0A0R4IZE2"
}
],
"protein_names": [
{
"name": "BLOC-2 complex member HPS3",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180471",
"id": "NP_001180471"
},
{
"name": "HPS3 biogenesis of lysosomal organelles complex 2 subunit 1",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprotkb/A0A0R4IZE2/entry#names_and_taxonomy",
"id": "A0A0R4IZE2"
},
{
"name": "Hermansky-Pudlak syndrome 3 protein",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprotkb/A0A0R4IZE2/entry#names_and_taxonomy",
"id": "A0A0R4IZE2"
},
{
"name": "Hermansky-Pudlak syndrome 3",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180471",
"id": "NP_001180471"
}
],
"function": [
{
"annotation": "##Evidence-Data-START## Transcript exon combination :: GFIL01012840.1, GDQH01015781.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMEA3505370, SAMEA3505371 [ECO:0006172] ##Evidence-Data-END## VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from JBMGRA010000022.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001180471",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180471"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0060541",
"recommended_name": {
"id": "DOID:0060541",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060541",
"name": "Hermansky-Pudlak syndrome 3",
"description": "A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24."
},
"synonyms": [
{
"id": "MONDO:0013555",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013555",
"name": "Hermansky-Pudlak syndrome 3",
"description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene."
},
{
"id": "MONDO:0013555",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013555",
"name": "HPS3 Hermansky-Pudlak syndrome",
"description": ""
},
{
"id": "MONDO:0013555",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013555",
"name": "Hermansky-Pudlak syndrome 3",
"description": ""
},
{
"id": "MONDO:0013555",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013555",
"name": "Hermansky-Pudlak syndrome caused by mutation in HPS3",
"description": ""
},
{
"id": "MONDO:0013555",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013555",
"name": "Hermansky-Pudlak syndrome type 3",
"description": ""
},
{
"id": "MONDO:0013555",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013555",
"name": "HPS3",
"description": ""
},
{
"id": "MIM:614072",
"resource": "MIM",
"url": "https://www.omim.org/entry/614072",
"name": "Hermansky-Pudlak syndrome 3",
"description": "Hermansky-Pudlak syndrome 3"
}
],
"unlinked_id_list": [],
"evidence": [
{
"id": "0060541",
"database": "AGR",
"url": "https://www.alliancegenome.org/disease/DOID:0060541"
}
]
},
{
"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": ""
}
],
"unlinked_id_list": [],
"evidence": [
{
"id": "2223",
"database": "AGR",
"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"
}
],
"unlinked_id_list": [],
"evidence": [
{
"id": "3753",
"database": "AGR",
"url": "https://www.alliancegenome.org/disease/DOID:3753"
}
]
}
],
"snv": [],
"mutagenesis": [],
"expression_tissue": [],
"expression_disease": [],
"species": [
{
"name": "Danio rerio",
"taxid": 7955,
"evidence": [
{
"database": "UniProtKB",
"id": "A0A0R4IZE2",
"url": "https://www.uniprot.org/uniprotkb/A0A0R4IZE2"
}
],
"common_name": "Zebrafish",
"glygen_name": "Zebrafish",
"reference_species": "Danio rerio [7955]"
}
],
"gene": [
{
"name": "hps3",
"url": "https://www.uniprot.org/uniprotkb/A0A0R4IZE2",
"locus": {}
}
],
"crossref": [
{
"id": "ZFIN:ZDB-GENE-061110-115",
"url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-061110-115",
"database": "AGR",
"categories": [
"Protein Classification"
]
},
{
"id": "ENSDARG00000015749",
"url": "https://bgee.org/?page=gene&gene_id=ENSDARG00000015749",
"database": "Bgee",
"categories": [
"Gene Expression"
]
},
{
"id": "777758",
"url": "https://www.ncbi.nlm.nih.gov/gene/777758",
"database": "GeneID",
"categories": [
"Genome Annotation"
]
},
{
"id": "IPR017216",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR017216",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR029437",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR029437",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR029438",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR029438",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "dre:777758",
"url": "https://www.genome.jp/dbget-bin/www_bget?dre:777758",
"database": "KEGG Pathway",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "A0A0R4IZE2",
"url": "https://www.orthodb.org/?gene=A0A0R4IZE2",
"database": "OrthoDB",
"categories": [
"Protein Classification"
]
},
{
"id": "A0A8M2B8S1",
"url": "https://www.orthodb.org/?gene=A0A8M2B8S1",
"database": "OrthoDB",
"categories": [
"Protein Classification"
]
},
{
"id": "PTHR28633",
"url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR28633",
"database": "PANTHER",
"categories": [
"Protein Classification"
]
},
{
"id": "PTHR28633:SF1",
"url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR28633:SF1",
"database": "PANTHER",
"categories": [
"Protein Classification"
]
},
{
"id": "PF14761",
"url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF14761",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF14763",
"url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF14763",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "NP_001180471",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180471",
"database": "RefSeq",
"categories": [
"Protein"
]
},
{
"id": "A0A0R4IZE2",
"url": "https://www.uniprot.org/uniprotkb/A0A0R4IZE2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A0R4IZE2-1",
"url": "https://www.uniprot.org/uniprotkb/A0A0R4IZE2-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8M2B8S1",
"url": "https://www.uniprot.org/uniprotkb/A0A8M2B8S1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8M2B8S1-1",
"url": "https://www.uniprot.org/uniprotkb/A0A8M2B8S1-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "ZDB-GENE-061110-115",
"url": "https://zfin.org/ZDB-GENE-061110-115",
"database": "ZFIN",
"categories": [
"Protein",
"Organism-specific"
]
}
],
"sequence": {
"sequence": "MVHVYNCHPFAAQRIVSAEQEPGLVCCGGGALFVVSAGGCKIEAFDLQREESPVICRFSCAGTVLSLQHSAVGDYLVTIEEKNNATYLRAYTNWRYQAVEKTRVGVRLLGHLLRGSSFRGAPKEQMEIIEIPLFEPPLCVACCSLTGDLLVGSAKSLVVFSLKRQTLSEQLSVLDFERVLILHIQGWSPSQVAFCAGYLALQTELEVLVIKLVQQQKSAQTAEENALLPVDIMVETSLEDDAEMKKDGFSPLHEQEDFFVFPKHQEMLGSEAQHCGITLVPECTAMDSESRGETTVVYVLFRRFAPDFFQGCSVEETRLHSLQLHPIFTGKQEESSISRCGDPDCMFVFFSLPNTGYMYSLKSSVELVSTYQYPEKAHQAVLSDQFLYVITRNALQCFTVRCSAVAARVQDPYIDTTMKACPPFSMEVCALRIQLFIGLKVLCQDGDHIVLLTAADVDSKENTERPARKNTSRKSSVCKSTEAPDSAHGWNLYVISSVSTLQLYREIVEYSKRYEQSNPCSQSCVHLLSEAHLLLRSALLKLQNGPAEEKQELLEAFQESCAHLGDCFSRFDKKDCHLALPYYKMSGLTVTDVIQRNVSMSGVSSGYGRGFIFFLKHSLYEETVEELSKDVADKVLEIFSVAEPAQLPHVVCCSSMLNADPDGAGALLEQLEASGAPSITLALCRASLALRTGDRHTYSQQMERHAEMLQVYGFIEEPRLLLHGRGVGLMPTLLAQQLRDSQDGLLVAALVALHENSRISLEDAHLFFQELCKDRLEPDSSPQLLVDFWESLLVASSRESTIQELLFRLVSVYISRITCSHPSGCKALKTADDLINSCSHYGMLYPWVSILTPNLYHDQQEDLLKLQSLLCGPTLQVSSILPLLEPLSDSDDPGLSVHVLCSTKLGQHEDSIHRLLDRCPQAIIPYAQHQLHHHTLCLWWQKLFPEVCDRIRKTGNDNTILLSALKETLIVAARELTPLEFLDLLPDDGTAHFFLPHLLECCQ",
"length": 1003,
"header": "tr|A0A0R4IZE2-1|A0A0R4IZE2_DANRE Isoform 1 of Hermansky-Pudlak syndrome 3 protein OS=Danio rerio OX=7955 GN=hps3 PE=4 SV=1 CANONICAL=A0A0R4IZE2-1"
},
"isoforms": [
{
"isoform_ac": "A0A0R4IZE2-1",
"url": "https://www.uniprot.org/uniprotkb/A0A0R4IZE2/entry#A0A0R4IZE2-1",
"sequence": {
"sequence": "MVHVYNCHPFAAQRIVSAEQEPGLVCCGGGALFVVSAGGCKIEAFDLQREESPVICRFSCAGTVLSLQHSAVGDYLVTIEEKNNATYLRAYTNWRYQAVEKTRVGVRLLGHLLRGSSFRGAPKEQMEIIEIPLFEPPLCVACCSLTGDLLVGSAKSLVVFSLKRQTLSEQLSVLDFERVLILHIQGWSPSQVAFCAGYLALQTELEVLVIKLVQQQKSAQTAEENALLPVDIMVETSLEDDAEMKKDGFSPLHEQEDFFVFPKHQEMLGSEAQHCGITLVPECTAMDSESRGETTVVYVLFRRFAPDFFQGCSVEETRLHSLQLHPIFTGKQEESSISRCGDPDCMFVFFSLPNTGYMYSLKSSVELVSTYQYPEKAHQAVLSDQFLYVITRNALQCFTVRCSAVAARVQDPYIDTTMKACPPFSMEVCALRIQLFIGLKVLCQDGDHIVLLTAADVDSKENTERPARKNTSRKSSVCKSTEAPDSAHGWNLYVISSVSTLQLYREIVEYSKRYEQSNPCSQSCVHLLSEAHLLLRSALLKLQNGPAEEKQELLEAFQESCAHLGDCFSRFDKKDCHLALPYYKMSGLTVTDVIQRNVSMSGVSSGYGRGFIFFLKHSLYEETVEELSKDVADKVLEIFSVAEPAQLPHVVCCSSMLNADPDGAGALLEQLEASGAPSITLALCRASLALRTGDRHTYSQQMERHAEMLQVYGFIEEPRLLLHGRGVGLMPTLLAQQLRDSQDGLLVAALVALHENSRISLEDAHLFFQELCKDRLEPDSSPQLLVDFWESLLVASSRESTIQELLFRLVSVYISRITCSHPSGCKALKTADDLINSCSHYGMLYPWVSILTPNLYHDQQEDLLKLQSLLCGPTLQVSSILPLLEPLSDSDDPGLSVHVLCSTKLGQHEDSIHRLLDRCPQAIIPYAQHQLHHHTLCLWWQKLFPEVCDRIRKTGNDNTILLSALKETLIVAARELTPLEFLDLLPDDGTAHFFLPHLLECCQ",
"length": 1003,
"header": "tr|A0A0R4IZE2-1|A0A0R4IZE2_DANRE Isoform 1 of Hermansky-Pudlak syndrome 3 protein OS=Danio rerio OX=7955 GN=hps3 PE=4 SV=1 CANONICAL=A0A0R4IZE2-1"
},
"locus": {}
},
{
"isoform_ac": "A0A8M2B8S1-1",
"url": "https://www.uniprot.org/uniprotkb/A0A0R4IZE2/entry#A0A8M2B8S1-1",
"sequence": {
"sequence": "MVHVYNCHPFAAQRIVSAEQEPGLVCCGGGALFVVSAGGCKIEAFDLQREESPVICRFSCAGTVLSLQHSAVGDYLVTIEEKNNATYLRAYTNWRYQAVEKTRVGVRLLGHLLRGSSFRGAPKEQMEIIEIPLFEPPLCVACCSLTGDLLVGSAKSLVVFSLKRQTLSEQLSVLDFERVLILHIQGWSPSQVAFCAGYLALQTELEVLVIKLVQQQKSAQTAEENALLPVDIMVETSLEDDAEMKKDGFSPLHEQEDFFVFPKHQEMLGSEAQHCGITLVPECTAMDSESRGETTVVYVLFRRFAPDFFQGCSVEETRLHSLQLHPIFTGKQEESSISRCGDPDCMFVFFSLPNTGYMYSLKSSVELVSTYQYPEKAHQAVLSDQFLYVITRNALQCFTVRCSAVAARVQDPYIDTTMKACPPFSMEVCALRIQLFIGLKVLCQDGDHIVLLTAADVDSKENTERPARKNTEWREHRALTGILLAVGLDATSAPTLESLLSKSFLSRKSSVCKSTEAPDSAHGWNLYVISSVSTLQLYREIVEYSKRYEQSNPCSQSCVHLLSEAHLLLRSALLKLQNGPAEEKQELLEAFQESCAHLGDCFSRFDKKDCHLALPYYKMSGLTVTDVIQRNVSMSGVSSGYGRGFIFFLKHSLYEETVEELSKDVADKVLEIFSVAEPAQLPHVVCCSSMLNADPDGAGALLEQLEASGAPSITLALCRASLALRTGDRHTYSQQMERHAEMLQVYGFIEEPRLLLHGRGVGLMPTLLAQQLRDSQDGLLVAALVALHENSRISLEDAHLFFQELCKDRLEPDSSPQLLVDFWESLLVASSRESTIQELLFRLVSVYISRITCSHPSGCKALKTADDLINSCSHYGMLYPWVSILTPNLYHDQQEDLLKLQSLLCGPTLQVSSILPLLEPLSDSDDPGLSVHVLCSTKLGQHEDSIHRLLDRCPQAIIPYAQHQLHHHTLCLWWQKLFPEVCDRIRKTGNDNTILLSALKETLIVAARELTPLEFLDLLPDDGTAHFFLPHLLECCQ",
"length": 1037,
"header": "tr|A0A8M2B8S1-1|A0A8M2B8S1_DANRE Computationally mapped isoform of BLOC-2 complex member HPS3 isoform X1 OS=Danio rerio OX=7955 GN=hps3 PE=4 SV=1 CANONICAL=A0A0R4IZE2-1"
},
"locus": {}
}
],
"glycosylation": [],
"phosphorylation": [],
"glycation": [],
"keywords": [],
"publication": [
{
"title": "The zebrafish reference genome sequence and its relationship to the human genome.",
"journal": "Nature",
"date": "2013",
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