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BLOC1S1

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BLOC1S1
Identifiers
AliasesBLOC1S1, BLOS1, GCN5L1, MICoA, RT14, BORCS1, biogenesis of lysosomal organelles complex 1 subunit 1
External IDsOMIM: 601444; MGI: 1195276; HomoloGene: 1140; GeneCards: BLOC1S1; OMA:BLOC1S1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001487

NM_015740

RefSeq (protein)

NP_001478

NP_056555

Location (UCSC)Chr 12: 55.72 – 55.72 MbChr 10: 128.75 – 128.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene.[5][6][7]

BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004).[supplied by OMIM][7]

Interactions

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000135441Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000090247Ensembl, 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. ^ Inoue M, Isomura M, Ikegawa S, Fujiwara T, Shin S, Moriya H, Nakamura Y (Jul 1996). "Isolation and characterization of a human cDNA clone (GCN5L1) homologous to GCN5, a yeast transcription activator". Cytogenet Cell Genet. 73 (1–2): 134–6. doi:10.1159/000134324. PMID 8646881.
  6. ^ a b c d 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. ^ a b "Entrez Gene: BLOC1S1 biogenesis of lysosome-related organelles complex-1, subunit 1".
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Further reading

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