BLOC1S1

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
Gene location (Human)
Chr.	Chromosome 12 (human)
End	55,720,087 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	128,759,904 bp
RNA expression pattern
	Top expressed in
	substantia nigra; ; amygdala; ; putamen; ; hippocampus proper; ; prefrontal cortex; ; caudate nucleus; ; rectum; ; body of stomach; ; right adrenal gland; ; nucleus accumbens;
	Top expressed in
	white adipose tissue; ; urinary bladder; ; adrenal gland; ; proximal tubule; ; muscle tissue; ; quadriceps femoris muscle; ; skeletal muscle tissue; ; kidney; ; yolk sac; ; neural tube;
	More reference expression data
	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
	2647
	14533
	ENSG00000135441
	ENSMUSG00000090247
	P78537
	O55102
	NM_001487
	NM_015740
	NP_001478
	NP_056555
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 19, 2023

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

Interactions

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

Related Research Articles

P300/CBP-associated factor (PCAF), also known as K(lysine) acetyltransferase 2B (KAT2B), is a human gene and transcriptional coactivator associated with p53.

Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1. Dysbindin was discovered by the research group of Derek Blake via yeast two-hybrid screening for binding partners of α-dystrobrevin. In addition, dysbindin is found in neural tissue of the brain, particularly in axon bundles and especially in certain axon terminals, notably mossy fiber synaptic terminals in the cerebellum and hippocampus. In humans, dysbindin is encoded by the DTNBP1 gene.

Nuclear transcription factor Y subunit beta is a protein that in humans is encoded by the NFYB gene.

Transformation/transcription domain-associated protein, also known as TRRAP, is a protein that in humans is encoded by the TRRAP gene. TRRAP belongs to the phosphatidylinositol 3-kinase-related kinase protein family.

Histone acetyltransferase KAT2A is an enzyme that in humans is encoded by the KAT2A gene.

DNA methyltransferase 1-associated protein 1 is an enzyme that in humans is encoded by the DMAP1 gene.

SNARE-associated protein Snapin is a protein that in humans is encoded by the SNAPIN gene.

Pallidin is a protein that in humans is encoded by the PLDN gene.

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.

Enhancer of polycomb homolog 1 is a protein that in humans is encoded by the EPC1 gene.

Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.

AP-3 complex subunit sigma-2 is a protein that in humans is encoded by the AP3S2 gene.

TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L is an enzyme that in humans is encoded by the TAF5L gene.

Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the BLOC1S2 gene.

Protein Muted homolog is a protein that in humans is encoded by the MUTED gene.

Protein cappuccino homolog is a protein that in humans is encoded by the CNO gene.

Dystrobrevin beta is a protein which in humans is encoded by the DTNB gene.

Histone acetyltransferase 1, also known as HAT1, is an enzyme that, in humans, is encoded by the HAT1 gene.

Polymerase (DNA-directed), epsilon 4, accessory subunit is a protein that in humans is encoded by the POLE4 gene.

BLOC-3 or biogenesis of lysosome-related organelles complex 3 is a ubiquitously expressed multisubunit protein complex.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000135441 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000090247 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
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.
1 2 "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 .

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000135441 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid8646881-5] 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.

[pmid15102850-6] 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.

[entrez-7] 1 2 "Entrez Gene: BLOC1S1 biogenesis of lysosome-related organelles complex-1, subunit 1".

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BLOC1S1

Contents

Interactions

Related Research Articles

References

External links

Further reading