Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bloc1s3provided by MGI
Official Full Name: biogenesis of lysosomal organelles complex-1, subunit 3provided by MGI
Primary source: MGI:MGI:2678952
See related: Ensembl:ENSMUSG00000057667 AllianceGenome:MGI:2678952
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: rp; Blos3; E230011O18
Summary: Enables protein transmembrane transporter activity. Involved in anterograde synaptic vesicle transport. Acts upstream of or within several processes, including positive regulation of natural killer cell activation; secretion of lysosomal enzymes; and vesicle organization. Located in cytosol. Part of BLOC-1 complex. Used to study Hermansky-Pudlak syndrome 8. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 8. Orthologous to human BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 31.5), ovary adult (RPKM 19.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 9.92 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (19239708..19242295, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (19505783..19508380, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in the human genes encoding Snapin and the BLOS proteins could underlie novel forms of Hermansky-Pudlak syndrome as seen in mouse models
Title: Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
results suggest that BLOC-3 function is required, directly or indirectly, for optimal attachment of late endocytic organelles to microtubule-dependent motors
Title: Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Spontaneous (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI480686 (e-PCR)
- UniSTS:159601

D5Mit392.1 (e-PCR), detects polymorphism
- UniSTS:130544

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed

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

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	ISO Inferred from Sequence Orthology more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in transport vesicle	ISO Inferred from Sequence Orthology more info
located_in transport vesicle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: biogenesis of lysosome-related organelles complex 1 subunit 3

Names: Bloc-1 complex component; Bloc1 subunit 3; biogenesis of lysosome-related organelles complex-1, subunit 3; reduced pigmentation protein

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.

mRNA and Protein(s)

NM_001421737.1 → NP_001408666.1 biogenesis of lysosome-related organelles complex 1 subunit 3

Status: VALIDATED

Source sequence(s)

AC149052

UniProtKB/Swiss-Prot

Q5U5M8, Q8C6R4, Q8R0Z3
NM_177692.4 → NP_808360.2 biogenesis of lysosome-related organelles complex 1 subunit 3

See identical proteins and their annotated locations for NP_808360.2

Status: VALIDATED

Source sequence(s)

AC149052

Consensus CDS

CCDS20904.1

UniProtKB/Swiss-Prot

Q5U5M8, Q8C6R4, Q8R0Z3

Related

ENSMUSP00000076624.7, ENSMUST00000077408.8

Conserved Domains (1) summary

pfam15753
Location:13 → 180

BLOC1S3; Biogenesis of lysosome-related organelles complex 1 subunit 3

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

19239708..19242295 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006539831.5 → XP_006539894.1 biogenesis of lysosome-related organelles complex 1 subunit 3 isoform X1

See identical proteins and their annotated locations for XP_006539894.1

UniProtKB/Swiss-Prot

Q5U5M8, Q8C6R4, Q8R0Z3

Conserved Domains (1) summary

pfam15753
Location:13 → 180

BLOC1S3; Biogenesis of lysosome-related organelles complex 1 subunit 3