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BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 [ Homo sapiens (human) ]

Gene ID: 388552, updated on 19-Jul-2014
Official Symbol
BLOC1S3provided by HGNC
Official Full Name
biogenesis of lysosomal organelles complex-1, subunit 3provided by HGNC
Primary source
HGNC:20914
See related
Ensembl:ENSG00000189114; HPRD:12527; MIM:609762; Vega:OTTHUMG00000181776
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RP; HPS8; BLOS3
Summary
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
See BLOC1S3 in Epigenomics, MapViewer
Location:
19q13.32
Exon count :
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (45178745..45181800)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45682003..45685058)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NTPase, KAP family P-loop domain containing 1 Neighboring gene trafficking protein particle complex 6A Neighboring gene exocyst complex component 3-like 2 Neighboring gene exocyst complex component 3-like 4 pseudogene Neighboring gene MAP/microtubule affinity-regulating kinase 4

Associated conditions

Description Tests
Hermansky-Pudlak syndrome 8
MedGen: CN068492 OMIM: 614077 GeneReviews: Hermansky-Pudlak Syndrome
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
NHGRI GWA Catalog
  • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
    Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
  • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
    trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anterograde axon cargo transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
endosome to melanosome transport IDA
Inferred from Direct Assay
more info
PubMed 
eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
melanosome organization NAS
Non-traceable Author Statement
more info
PubMed 
melanosome transport IDA
Inferred from Direct Assay
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet dense granule organization NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of natural killer cell activation IEA
Inferred from Electronic Annotation
more info
 
post-Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
secretion of lysosomal enzymes IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
BLOC-1 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
transport vesicle IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
biogenesis of lysosome-related organelles complex 1 subunit 3
Names
biogenesis of lysosome-related organelles complex 1 subunit 3
BLOC-1 subunit 3
reduced pigmentation, mouse, homolog of
biogenesis of lysosome-related organelles complex-1, subunit 3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008372.1 

    Range
    5001..8056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_212550.3NP_997715.1  biogenesis of lysosome-related organelles complex 1 subunit 3

    See proteins identical to NP_997715.1

    Status: REVIEWED

    Source sequence(s)
    AC005757, AY531266, BU616355, DC422050
    Consensus CDS
    CCDS12656.1
    UniProtKB/Swiss-Prot
    Q6QNY0
    Related
    ENSP00000393840, OTTHUMP00000267438, ENST00000433642, OTTHUMT00000457559

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    45178745..45181800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    42112149..42115204
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    45685293..45688348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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