BLOC1S1

Last updated

BLOC1S1
Identifiers
Aliases BLOC1S1 , BLOS1, GCN5L1, MICoA, RT14, BORCS1, biogenesis of lysosomal organelles complex 1 subunit 1
External IDs OMIM: 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 Mb Chr 10: 128.75 – 128.76 Mb
PubMed search [3] [4]
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. [5] [6] [7]

Contents

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

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000135441 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000090247 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. 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. 1 2 3 4 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. 1 2 "Entrez Gene: BLOC1S1 biogenesis of lysosome-related organelles complex-1, subunit 1".

Further reading