Misplaced Pages

BLOC1S2
Identifiers
Aliases	BLOC1S2, BLOS2, CEAP, CEAP11, BORCS2, biogenesis of lysosomal organelles complex 1 subunit 2
External IDs	OMIM: 609768; MGI: 1920939; HomoloGene: 45479; GeneCards: BLOC1S2; OMA:BLOC1S2 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) Band 10q24.31 Start 100,273,280 bp End 100,286,680 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19|19 C3 Start 44,127,685 bp End 44,134,885 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 Top expressed in yolk sac neural tube bone marrow spleen granulocyte Mesencephalon thymus lens olfactory bulb epiblast More reference expression data BioGPS n/a
Gene ontology 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
Orthologs Species Human Mouse Entrez 282991 73689 Ensembl ENSG00000196072 ENSMUSG00000057506 UniProt Q6QNY1 Q9CWG9 RefSeq (mRNA) NM_173809 NM_001001342 NM_001282436 NM_001282437 NM_001282438 NM_001282439 NM_028607 RefSeq (protein) NP_001001342 NP_001269365 NP_001269366 NP_001269367 NP_001269368 NP_776170 NP_082883 Location (UCSC) Chr 10: 100.27 – 100.29 Mb Chr 19: 44.13 – 44.13 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the BLOC1S2 gene.

Interactions

BLOC1S2 has been shown to interact with BLOC1S1, SNAPAP, MUTED, CNO and PLDN.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000196072 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000057506 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Yu Y, Zhang C, Zhou G, Wu S, Qu X, Wei H, Xing G, Dong C, Zhai Y, Wan J, Ouyang S, Li L, Zhang S, Zhou K, Zhang Y, Wu C, He F (Aug 2001). "Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs". Genome Res. 11 (8): 1392–403. doi:10.1101/gr.175501. PMC 311073. PMID 11483580.
6. ^ Starcevic M, Dell'Angelica EC (Jun 2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)". J Biol Chem. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID 15102850.
7. "Entrez Gene: BLOC1S2 biogenesis of lysosome-related organelles complex-1, subunit 2".

External links

• Human BLOC1S2 genome location and BLOC1S2 gene details page in the UCSC Genome Browser.

Further reading

• Moriyama K, Bonifacino JS (2003). "Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles". Traffic. 3 (9): 666–77. doi:10.1034/j.1600-0854.2002.30908.x. PMID 12191018. S2CID 29888859.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ciciotte SL, Gwynn B, Moriyama K, et al. (2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)". Blood. 101 (11): 4402–7. doi:10.1182/blood-2003-01-0020. PMID 12576321.
• Li W, Zhang Q, Oiso N, et al. (2003). "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)". Nat. Genet. 35 (1): 84–9. doi:10.1038/ng1229. PMC 2860733. PMID 12923531.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. Bibcode:2004Natur.429..375D. doi:10.1038/nature02462. PMID 15164054.
• Wang Z, Wei H, Yu Y, et al. (2004). "Characterization of Ceap-11 and Ceap-16, two novel splicing-variant-proteins, associated with centrosome, microtubule aggregation and cell proliferation". J. Mol. Biol. 343 (1): 71–82. doi:10.1016/j.jmb.2004.08.034. PMID 15381421.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.

This article on a gene on human chromosome 10 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 10
• Human chromosome 10 gene stubs