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Gene : BLOC1S1 Homo sapiens

Name  ? biogenesis of lysosomal organelles complex 1 subunit 1 Cytological Location  12q13.2
Brief Description  biogenesis of lysosomal organelles complex 1 subunit 1
Description  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 [PubMed 15102850]).[supplied by OMIM, Mar 2008]
  • synonyms:
  • GCN5L1,
  • BLOC-1 Subunit 1,
  • HGNC:4200,
  • GCN5 general control of amino-acid synthesis 5-like 1 (yeast),
  • BLOC1S1,
  • MICoA,
  • S82447,
  • BORCS1,
  • BLOS1,
  • GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1,
  • RT14,
  • Biogenesis of Lysosome-related Organelles complex-1 Subunit 1,
  • BLOS1,
  • BORCS1,
  • OTTHUMG00000169962,
  • GCN5L1,
  • NM_001487,
  • uc001shi.5
  • identifiers:
  • 2647,
  • ENSG00000135441,
  • BLOC1S1

Genome feature

Region: gene ? Length: 3674  
Location: 12:55716034-55719707 Cyto location: 12q13.2


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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

354 SN Ps

5 Cross References

15 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results