Misplaced Pages

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
Gene location (Human) Chr. Chromosome 12 (human) Band 12q13.2 Start 55,716,038 bp End 55,720,087 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 D3|10 77.19 cM Start 128,753,751 bp End 128,759,904 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon C1 segment substantia nigra Amygdala putamen hippocampus proper granulocyte muscle of thigh prefrontal cortex caudate nucleus Top expressed in white adipose tissue urinary bladder adrenal gland proximal tubule right kidney muscle tissue quadriceps femoris muscle skeletal muscle tissue human kidney yolk sac More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm cytosol BLOC-1 complex mitochondrial intermembrane space mitochondrial matrix mitochondrion extracellular exosome axon cytoplasm extracellular space lysosome lysosomal membrane membrane BORC complex Biological process platelet dense granule organization anterograde axonal transport endosomal transport melanosome organization aerobic respiration anterograde synaptic vesicle transport neuron projection development peptidyl-lysine acetylation lysosome localization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2647 14533 Ensembl ENSG00000135441 ENSMUSG00000090247 UniProt P78537 O55102 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
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.

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).

Interactions

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

References

1. ^ GRCh38: Ensembl release 89: ENSG00000135441 – Ensembl, May 2017
2. ^ 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. ^ 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: BLOC1S1 biogenesis of lysosome-related organelles complex-1, subunit 1".

External links

• Human BLOC1S1 genome location and BLOC1S1 gene details page in the UCSC Genome Browser.

Further reading

• Watanabe TK, Fujiwara T, Shinomiya H, et al. (1997). "Molecular cloning of a novel human cDNA, RT14, containing a putative ORF highly conserved between human, fruit fly, and nematode". DNA Res. 2 (5): 235–7. doi:10.1093/dnares/2.5.235. PMID 8770567.
• Ogryzko VV, Kotani T, Zhang X, et al. (1998). "Histone-like TAFs within the PCAF histone acetylase complex". Cell. 94 (1): 35–44. doi:10.1016/S0092-8674(00)81219-2. PMID 9674425. S2CID 18942972.
• McMahon SB, Wood MA, Cole MD (2000). "The essential cofactor TRRAP recruits the histone acetyltransferase hGCN5 to c-Myc". Mol. Cell. Biol. 20 (2): 556–62. doi:10.1128/MCB.20.2.556-562.2000. PMC 85131. PMID 10611234.
• Kurooka H, Honjo T (2000). "Functional interaction between the mouse notch1 intracellular region and histone acetyltransferases PCAF and GCN5". J. Biol. Chem. 275 (22): 17211–20. doi:10.1074/jbc.M000909200. PMID 10747963.
• 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.
• Mishra SK, Mazumdar A, Vadlamudi RK, et al. (2003). "MICoA, a novel metastasis-associated protein 1 (MTA1) interacting protein coactivator, regulates estrogen receptor-alpha transactivation functions". J. Biol. Chem. 278 (21): 19209–19. doi:10.1074/jbc.M301968200. PMID 12639951.
• Lehner B, Semple JI, Brown SE, et al. (2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics. 83 (1): 153–67. doi:10.1016/S0888-7543(03)00235-0. PMID 14667819.

This article on a gene on human chromosome 12 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 12
• Human chromosome 12 gene stubs