BORCS6 BLOC-1 related complex subunit 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BORCS6provided by HGNC
Official Full Name: BLOC-1 related complex subunit 6provided by HGNC
Primary source: HGNC:HGNC:25939
See related: Ensembl:ENSG00000196544 MIM:616599; AllianceGenome:HGNC:25939
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PRO2472; C17orf59
Summary: Enables identical protein binding activity. Involved in lysosome localization. Part of BORC complex. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (8188345..8190180, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (8094509..8096344, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (8091663..8093498, complement)

Chromosome 17 - NC_000017.11 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?

BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.
Title: BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.

Submit: New GeneRIF Correction

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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in lysosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome localization	NAS Non-traceable Author Statement 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

Component	Evidence Code	Pubs
part_of BORC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BORC complex	IDA Inferred from Direct Assay more info	PubMed
part_of BORC complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytoplasmic side of lysosomal membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: BLOC-1-related complex subunit 6

Names: lysosome-dispersing protein; lyspersin

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.