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

Gene ID: 54785, updated on 5-Mar-2024

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, Apr 2022]
Orthologs
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Genomic context

See BORCS6 in Genome Data Viewer
Location:
17p13.1
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8188345..8190180, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8094509..8096344, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8091663..8093498, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8172 Neighboring gene tRNA-Thr (anticodon AGT) 1-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11680 Neighboring gene tRNA-Ile (anticodon AAT) 5-5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8092665-8093311 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8093312-8093957 Neighboring gene uncharacterized LOC124903913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11683 Neighboring gene nonconserved acetylation island sequence 72 enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8107017-8107517 Neighboring gene aurora kinase B Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:8113125-8113784

Genomic regions, transcripts, and products

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ20014

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

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.

mRNA and Protein(s)

  1. NM_017622.3NP_060092.2  BLOC-1-related complex subunit 6

    See identical proteins and their annotated locations for NP_060092.2

    Status: VALIDATED

    Source sequence(s)
    AI174760, CA423621, DA199264, DR006664
    Consensus CDS
    CCDS11133.2
    UniProtKB/Swiss-Prot
    Q53HS4, Q96GS4, Q9NXW8
    Related
    ENSP00000373669.4, ENST00000389017.6
    Conserved Domains (1) summary
    pfam10157
    Location:210355
    DUF2365; Uncharacterized conserved protein (DUF2365)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    8188345..8190180 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    8094509..8096344 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)