Bloc1s4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bloc1s4provided by MGI
Official Full Name: biogenesis of lysosomal organelles complex-1, subunit 4, cappuccinoprovided by MGI
Primary source: MGI:MGI:1929230
See related: Ensembl:ENSMUSG00000060708 AllianceGenome:MGI:1929230
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: Cno; Blos4; 2610101N07Rik
Summary: Involved in anterograde synaptic vesicle transport. Acts upstream of or within melanosome organization; neuromuscular process controlling balance; and platelet aggregation. Located in cytoplasm. Part of BLOC-1 complex. Used to study Hermansky-Pudlak syndrome. Orthologous to human BLOC1S4 (biogenesis of lysosomal organelles complex 1 subunit 4). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human all
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Genomic context

Location:: 5 B3; 5 19.24 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (36904718..36906023, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (36747374..36748679, complement)

Chromosome 5 - NC_000071.7 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?

coassembles with pallidin and the muted protein in the BLOC-1 complex
Title: Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).
Genetic analysis revealed a deleterious mutation in the cappuccino gene (cno), which is profoundly involved in platelet function in the progression of immune complex crescentic glomerulonephritis.
Title: Cappuccino mutation in an autoimmune-prone strain of mice suggests a role of platelet function in the progression of immune complex crescentic glomerulonephritis.

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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 (2) 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 protein binding	IPI Inferred from Physical Interaction 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 melanosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome organization	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection development	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within platelet aggregation	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

General protein information

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Preferred Names: biogenesis of lysosome-related organelles complex 1 subunit 4

Names: BLOC-1 subunit 4; biogenesis of organelles complex-1, subunit 4, cappuccino; cappuccino; protein cappuccino homolog

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_133724.3 → NP_598485.1 biogenesis of lysosome-related organelles complex 1 subunit 4

Status: VALIDATED

Source sequence(s)

AK011795, AV291459, CK129009

Consensus CDS

CCDS19241.1

UniProtKB/Swiss-Prot

Q8VED2

Related

ENSMUSP00000071840.4, ENSMUST00000071949.5