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

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; AllianceGenome:HGNC:20914
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: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45178784..45217083)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (48003901..48043728)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45682042..45685058)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.
Title: Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.
BLOC-2 and BLOC-3 were destabilized due to the mutation of these Hermansky-Pudlak syndrome (HPS) genes which are so far the only reported causative genes in Chinese HPS patients
Title: Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.
Observational study, meta-analysis, and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Genome-wide analysis of genetic loci associated with Alzheimer disease.
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).
Title: A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hermansky-Pudlak syndrome 8 MedGen: C3888026 OMIM: 614077 GeneReviews: Hermansky-Pudlak Syndrome	Compare labs

EBI GWAS Catalog

Description
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48388 (e-PCR)
- UniSTS:19003

D15S1477 (e-PCR)
- UniSTS:474482

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterograde synaptic vesicle transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in endosome to melanosome transport	IDA Inferred from Direct Assay more info	PubMed
involved_in eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome organization	NAS Non-traceable Author Statement more info	PubMed
involved_in melanosome transport	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet dense granule organization	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of natural killer cell activation	IEA Inferred from Electronic Annotation more info
involved_in protein transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in secretion of lysosomal enzymes	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of BLOC-1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of BLOC-1 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in transport vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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.