BLOC1S1

Biogenesis of lysosomal organelles complex-1, subunit 1
Identifiers
Symbols BLOC1S1; BLOS1; FLJ39337; FLJ97089; GCN5L1; MGC87455; MICoA; RT14
External IDs OMIM601444 MGI1195276 HomoloGene1140 GeneCards: BLOC1S1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 2647 14533
Ensembl ENSG00000135441 ENSMUSG00000090247
UniProt P78537 O55102
RefSeq (mRNA) NM_001487.3 NM_015740.3
RefSeq (protein) NP_001478.2 NP_056555.2
Location (UCSC) Chr 12:
56.11 – 56.11 Mb
Chr 10:
128.35 – 128.36 Mb
PubMed search [1] [2]

Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene.[1][2][3]

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][3]

Interactions

BLOC1S1 has been shown to interact with BLOC1S2,[2] SNAPAP[2] and PLDN.[2]

References

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: BLOC1S1 biogenesis of lysosome-related organelles complex-1, subunit 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2647. 

Further reading