BLOC1S1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
BLOC1S1
Identifiers
Aliases BLOC1S1, BLOS1, GCN5L1, MICoA, RT14, BORCS1, biogenesis of lysosomal organelles complex 1 subunit 1
External IDs MGI: 1195276 HomoloGene: 1140 GeneCards: BLOC1S1
RNA expression pattern
PBB GE BLOC1S1 202592 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001487

NM_015740

RefSeq (protein)

NP_001478

NP_056555

Location (UCSC) Chr 12: 55.72 – 55.72 Mb Chr 10: 128.92 – 128.92 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene.[3][4][5]

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][5]

Interactions[edit]

BLOC1S1 has been shown to interact with BLOC1S2,[4] SNAPAP[4] and PLDN.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. PMID 8646881. doi:10.1159/000134324. 
  4. ^ 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. PMID 15102850. doi:10.1074/jbc.M402513200. 
  5. ^ a b "Entrez Gene: BLOC1S1 biogenesis of lysosome-related organelles complex-1, subunit 1". 

External links[edit]

Further reading[edit]