Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bloc1s6provided by MGI
Official Full Name: biogenesis of lysosomal organelles complex-1, subunit 6, pallidinprovided by MGI
Primary source: MGI:MGI:1927580
See related: Ensembl:ENSMUSG00000005804 AllianceGenome:MGI:1927580
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: pa; Hps9; Pldn; BLOC-1; Stx13bp1
Summary: Enables molecular adaptor activity. Involved in anterograde synaptic vesicle transport and neuron projection development. Acts upstream of or within several processes, including establishment of protein localization; glutamine family amino acid metabolic process; and limbic system development. Located in endosome. Part of BLOC-1 complex and filamentous actin. Is active in several cellular components, including focal adhesion; microvesicle; and stress fiber. Is expressed in brain; spinal cord; and thoracic ganglion. Used to study Hermansky-Pudlak syndrome 9; platelet storage pool deficiency; and pulmonary emphysema. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 9. Orthologous to human BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 9.6), CNS E18 (RPKM 9.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 60.66 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (122580425..122591407)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (122738505..122749487)

Chromosome 2 - NC_000068.8 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

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A marked enhancement of a BLOC-1 gene, pallidin, associated with somnolent mouse models deficient in histamine transmission.
Title: A marked enhancement of a BLOC-1 gene, pallidin, associated with somnolent mouse models deficient in histamine transmission.
This study analyzed the plasma lipid profiles of three HPS mutant mice, pa (Hps9 (-/-)), ru (Hps6 (-/-)), ep (Hps1 (-/-)), and wild-type (WT) mice. The findings may provide clues to explain why different HPS mutant mice exhibit distinct anti-atherosclerotic or atherogenic effects after being exposed to high-cholesterol diets.
Title: Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids.
knockdown of pallidin increased the total dendritic length of cultured hippocampal neurons, which was rescued by co-expression of wild-type pallidin but not a mutant lacking the ability to interact with cytohesin-2
Title: Pallidin is a novel interacting protein for cytohesin-2 and regulates the early endosomal pathway and dendritic formation in neurons.
Polycystin-2 requires IFT20-GMAP210, the exocyst, and BLOC-1 for trafficking from endosomes to primary cilia.
Title: BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia.
We found 491 proteins sensitive to dysbindin and BLOC-1 loss of function
Title: The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin Polymerization Complex to Function Downstream of the Schizophrenia Susceptibility Factor Dysbindin at the Synapse.
VAMP7 mediates fusion of BLOC-1-dependent transport carriers with melanosomes, illuminate SNARE recycling from melanosomes as a critical BLOC-3-dependent step.
Title: BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers.
Mecp2 regulates the expression of components belonging to the dysbindin interactome
Title: MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.
Data suggest functional links between OCA2 and the BLOC-1, BLOC-2, and AP-3 protein complexes involved in melanosome biogenesis.
Title: Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation.
The identification of the feeble mutation led to our subsequent observations that AP-3, as well as the BLOC-1 and BLOC-2 are essential for plasmacytoid dendritic cells signaling through TLR7 and TLR9.
Title: Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells.
This study demonstrated that Loss-of-function alleles of BLOC-1, Pldn(pa/pa), and Muted(mu/mu) revealed that this complex acts as a brain-region-specific regulator of AP-3.
Title: Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

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

Endonuclease-mediated (3)
Spontaneous (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within ATP metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within actin filament bundle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adenosine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within amino acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
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 bradykinin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to epidermal growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within circadian sleep/wake cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dentate gyrus development	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
acts_upstream_of_or_within endothelium development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glutamate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glutamine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hypothalamus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular nitric oxide homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanocyte differentiation	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
acts_upstream_of_or_within membrane fusion	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phospholipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pigmentation	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 positive regulation of pigment cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of pigment cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein targeting	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to acetylcholine	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to activity	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within vasodilation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vesicle docking involved in exocytosis	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within vesicle fusion	TAS Traceable Author Statement 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
part_of BLOC-1 complex	ISS Inferred from Sequence or Structural Similarity more info
part_of SNARE complex	ISO Inferred from Sequence Orthology more info
part_of SNARE complex	ISS Inferred from Sequence or Structural Similarity more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cell-cell contact zone	IDA Inferred from Direct Assay more info	PubMed
is_active_in contractile ring	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
part_of filamentous actin	IDA Inferred from Direct Assay more info	PubMed
is_active_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane-bounded organelle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in microvesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in ruffle	IDA Inferred from Direct Assay more info	PubMed
is_active_in stress fiber	IDA Inferred from Direct Assay more info	PubMed
is_active_in transport vesicle	IBA Inferred from Biological aspect of Ancestor more info
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 6

Names: BLOC-1 subunit 6; biogenesis of organelles complex-1, subunit 6, pallidin; pallid protein; pallidin; syntaxin 13 binding protein 1; syntaxin 13-interacting protein pallid

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_019788.3 → NP_062762.1 biogenesis of lysosome-related organelles complex 1 subunit 6

Status: VALIDATED

Source sequence(s)

AI596295, AK147116, BY015259, CJ304271

Consensus CDS

CCDS16668.1

UniProtKB/Swiss-Prot

A2ATW6, Q3TUT4, Q91VG4, Q9R0C0

UniProtKB/TrEMBL

Q5U455

Related

ENSMUSP00000005954.9, ENSMUST00000005954.9

Conserved Domains (1) summary

pfam14712
Location:55 → 140

Snapin_Pallidin; Snapin/Pallidin