BLOC1S2

Protein-coding gene in the species Homo sapiens
BLOC1S2
Identifiers
AliasesBLOC1S2, BLOS2, CEAP, CEAP11, BORCS2, biogenesis of lysosomal organelles complex 1 subunit 2
External IDsOMIM: 609768; MGI: 1920939; HomoloGene: 45479; GeneCards: BLOC1S2; OMA:BLOC1S2 - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for BLOC1S2
Genomic location for BLOC1S2
Band10q24.31Start100,273,280 bp[1]
End100,286,680 bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for BLOC1S2
Genomic location for BLOC1S2
Band19|19 C3Start44,127,685 bp[2]
End44,134,885 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 19: 44.13 – 44.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the BLOC1S2 gene.[5][6][7]


Interactions

BLOC1S2 has been shown to interact with BLOC1S1,[6] SNAPAP,[6] MUTED,[6] CNO[6] and PLDN.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000196072 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b c d e f 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

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.


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