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

Gene ID: 388552, updated on 22-Aug-2020

Summary

Official Symbol
BLOC1S3provided by HGNC
Official Full Name
biogenesis of lysosomal organelles complex 1 subunit 3provided by HGNC
Primary source
HGNC:HGNC:20914
See related
Ensembl:ENSG00000189114 MIM:609762
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]
Expression
Ubiquitous expression in spleen (RPKM 2.9), skin (RPKM 2.7) and 25 other tissues See more
Orthologs

Genomic context

See BLOC1S3 in Genome Data Viewer
Location:
19q13.32
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (45178784..45202715)
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 protein phosphatase 1 regulatory subunit 37 Neighboring gene eukaryotic translation initiation factor 5A pseudogene 3 Neighboring gene uncharacterized LOC105372420 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 microtubule affinity regulating kinase 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
GeneReviews: Not available
Hermansky-Pudlak syndrome 8
MedGen: C3888026 OMIM: 614077 GeneReviews: Hermansky-Pudlak Syndrome
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26641, FLJ26676, AC006126.3

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 
protein transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anterograde axonal 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 
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
 
protein transmembrane transport IEA
Inferred from Electronic Annotation
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BLOC-1 complex IDA
Inferred from Direct Assay
more info
PubMed 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
transport vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
biogenesis of lysosome-related organelles complex 1 subunit 3
Names
BLOC-1 subunit 3
biogenesis of lysosome-related organelles complex-1, subunit 3
reduced pigmentation, mouse, homolog of

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    5001..8057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_546

mRNA and Protein(s)

  1. NM_212550.5NP_997715.1  biogenesis of lysosome-related organelles complex 1 subunit 3

    See identical proteins and their annotated locations for NP_997715.1

    Status: REVIEWED

    Source sequence(s)
    AA436323, AC005757, AK130151, AK296695, AY531266, BU616355, DC422050
    Consensus CDS
    CCDS12656.1
    UniProtKB/Swiss-Prot
    Q6QNY0
    Related
    ENSP00000393840.1, ENST00000433642.3
    Conserved Domains (1) summary
    pfam15753
    Location:16187
    BLOC1S3; Biogenesis of lysosome-related organelles complex 1 subunit 3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    45178784..45202715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001753683.1 RNA Sequence

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