BLOC1S1

Protein-coding gene in humans
BLOC1S1
Identifiers
AliasesBLOC1S1, BLOS1, GCN5L1, MICoA, RT14, BORCS1, biogenesis of lysosomal organelles complex 1 subunit 1
External IDsOMIM: 601444; MGI: 1195276; HomoloGene: 1140; GeneCards: BLOC1S1; OMA:BLOC1S1 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for BLOC1S1
Genomic location for BLOC1S1
Band12q13.2Start55,716,038 bp[1]
End55,720,087 bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for BLOC1S1
Genomic location for BLOC1S1
Band10 D3|10 77.19 cMStart128,753,751 bp[2]
End128,759,904 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 10: 128.75 – 128.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

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

External links

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.


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