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Gene : BLOC1S5 Homo sapiens

Name  ? biogenesis of lysosomal organelles complex 1 subunit 5 Cytological Location  6p24.3
Brief Description  biogenesis of lysosomal organelles complex 1 subunit 5
Description  This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]
  • synonyms:
  • dJ303A1.3,
  • BLOS5,
  • MU,
  • BLOC1S5,
  • OTTHUMG00000014220,
  • AF426434,
  • MUTED,
  • MUTED,
  • muted homolog (mouse),
  • MU,
  • uc003mxy.3,
  • HGNC:18561,
  • NM_201280
  • identifiers:
  • 63915,
  • ENSG00000188428,
  • BLOC1S5

Genome feature

Region: gene ? Length: 50848  
Location: 6:8013567-8064414 reverse strand Cyto location: 6p24.3


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

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)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

14 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results