Borcs7 BLOC-1 related complex subunit 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Borcs7provided by MGI
Official Full Name: BLOC-1 related complex subunit 7provided by MGI
Primary source: MGI:MGI:1913689
See related: Ensembl:ENSMUSG00000062376 AllianceGenome:MGI:1913689
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: 2010012O05Rik; 4930569L17Rik
Summary: Predicted to be located in lysosome and membrane. Predicted to be part of BORC complex. Used to study hereditary spastic paraplegia and neuroaxonal dystrophy. Orthologous to human BORCS7 (BLOC-1 related complex subunit 7). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in frontal lobe adult (RPKM 5.2), cortex adult (RPKM 4.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 38.97 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (46678345..46691821)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (46689906..46703382)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Truncated Borcs7 reduces lysosomal transport in neurons and causes progressive axonal dystrophy.
Title: A Mutation in the Borcs7 Subunit of the Lysosome Regulatory BORC Complex Results in Motor Deficits and Dystrophic Axonopathy in Mice.

Submit: New GeneRIF Correction

Variation

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Alleles

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

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

General gene information

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Markers

AI413851 (e-PCR)
- UniSTS:181251

AI467257 (e-PCR)
- UniSTS:160852

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within axon development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryo development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lysosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome localization	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within motor behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in organelle transport along microtubule	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of endosome size	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of lysosome size	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within response to cycloheximide	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BORC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BORC complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of lysosomal membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: BLOC-1-related complex subunit 7

Names: UPF0693 protein C10orf32 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.