BLOC1S2 |
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Identifiers |
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Aliases | BLOC1S2, BLOS2, CEAP, CEAP11, BORCS2, biogenesis of lysosomal organelles complex 1 subunit 2 |
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External IDs | OMIM: 609768; MGI: 1920939; HomoloGene: 45479; GeneCards: BLOC1S2; OMA:BLOC1S2 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 10 (human)[1] |
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| Band | 10q24.31 | Start | 100,273,280 bp[1] |
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End | 100,286,680 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 19 (mouse)[2] |
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| Band | 19|19 C3 | Start | 44,127,685 bp[2] |
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End | 44,134,885 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - tibialis anterior muscle
- skin of arm
- pons
- Pars compacta
- Brodmann area 46
- pars reticulata
- skin of thigh
- skin of hip
- mucosa of ileum
- vulva
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| Top expressed in | - yolk sac
- neural tube
- bone marrow
- spleen
- granulocyte
- mesencephalon
- thymus
- lens
- olfactory bulb
- epiblast
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - protein binding
- gamma-tubulin binding
- protein C-terminus binding
- oxidoreductase activity
| Cellular component | - cytoplasm
- cytosol
- BLOC-1 complex
- gamma-tubulin complex
- microtubule organizing center
- mitochondrion
- cytoskeleton
- axon cytoplasm
- nucleus
- centrosome
- lysosome
- lysosomal membrane
- membrane
- BORC complex
| Biological process | - platelet dense granule organization
- anterograde axonal transport
- positive regulation of transcription, DNA-templated
- melanosome organization
- positive regulation of cell population proliferation
- anterograde synaptic vesicle transport
- neuron projection development
- mitochondrial outer membrane permeabilization
- extrinsic apoptotic signaling pathway via death domain receptors
- microtubule nucleation
- lysosome localization
- endosomal transport
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | NM_173809 NM_001001342 NM_001282436 NM_001282437 NM_001282438
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NM_001282439 |
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RefSeq (protein) | NP_001001342 NP_001269365 NP_001269366 NP_001269367 NP_001269368
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NP_776170 |
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Location (UCSC) | Chr 10: 100.27 – 100.29 Mb | Chr 19: 44.13 – 44.13 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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