BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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388552 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Biogenesis of lysosomal organelles complex 1 subunit 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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BLOC1S3 |
SynonymsGene synonyms aliases
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BLOS3, HPS8, RP |
ChromosomeChromosome number
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19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19q13.32 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutati |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q6QNY0 |
Protein name |
Biogenesis of lysosome-related organelles complex 1 subunit 3 (BLOC-1 subunit 3) |
Protein function |
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target m |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF15753 |
BLOC1S3 |
16 → 187 |
Biogenesis of lysosome-related organelles complex 1 subunit 3 |
Family |
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Sequence |
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Sequence length |
202 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Albinism |
Albinism |
rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042 |
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Alzheimer disease |
Alzheimer`s Disease |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 |
30617256, 21460841, 29777097 |
Hermansky-pudlak syndrome |
Hermanski-Pudlak Syndrome, Hermansky-Pudlak syndrome type 8, HERMANSKY-PUDLAK SYNDROME 8 |
rs281865116, rs281865113, rs281865103, rs104893945, rs119471021, rs281865100, rs281865097, rs119471022, rs119471023, rs119471024, rs119471025, rs201227603, rs281865093, rs397507168, rs281865095, rs121908316, rs281865163, rs281865082, rs121908385, rs121908386, rs281865081, rs281865077, rs121908904, rs1000881595, rs121908905, rs121908906, rs121908907, rs281865084, rs281865086, rs281865088, rs281865090, rs281865075, rs281865076, rs281865080, rs281865104, rs281865105, rs397507169, rs281865101, rs201348482, rs1564899492, rs281865114, rs281865110, rs281865107, rs281865112, rs727502866, rs786205464, rs869312835, rs869312836, rs869312837, rs869312838, rs369053765, rs879255646, rs886041723, rs1591055649, rs753928208, rs113304476, rs1131692151, rs1131692149, rs1131692146, rs1131692148, rs1131692147, rs764296457, rs1131692150, rs1131692332, rs1131692333, rs766602179, rs281865115, rs1554903728, rs1220869113, rs773323079, rs1554948134, rs1486224265, rs1277509410, rs1553750083, rs372020804, rs1564899012, rs1590262288, rs753185316, rs1553750097, rs780183200, rs1576695913, rs1576708708, rs1590262450, rs756471925, rs1478574193, rs1590263807, rs1590263820, rs779921624, rs755827664, rs374689398, rs886077189, rs1591120765, rs1260083432, rs748883997, rs750685598, rs778152054, rs755083879, rs1488175163, rs1591092841, rs1576687466, rs756325364, rs1591002808, rs1591045080, rs1602079277, rs1591109881, rs1591031929, rs200079039, rs1595560288, rs772475341, rs1330496818, rs1745947620, rs552340796, rs1453977337, rs754841982, rs1568469902, rs1763106978 |
22709368, 16385460 |
Myopia |
Myopia |
rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023 |
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Ocular albinism |
Albinism, Ocular |
rs137852296, rs137852297, rs62635018, rs62645741, rs281865178, rs281865183, rs281865184, rs672601353, rs1057518841, rs1057518763, rs1057518787 |
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Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
17618940 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Astigmatism |
Astigmatism |
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Esotropia |
Esotropia |
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Exotropia |
Exotropia |
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Horizontal nystagmus |
Horizontal Nystagmus |
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Hyperopia |
Hyperopia |
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Sclerocystic ovaries |
Sclerocystic Ovaries |
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21411543 |
Polycystic ovary syndrome |
Polycystic Ovary Syndrome |
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21411543 |
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