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Aliases for BORCS6 Gene

Aliases for BORCS6 Gene

  • BLOC-1 Related Complex Subunit 6 2 3 5
  • Lyspersin 2 3 4
  • Lysosome-Dispersing Protein 3 4
  • C17orf59 3 4
  • Chromosome 17 Open Reading Frame 59 2
  • BLOC-1-Related Complex Subunit 6 3
  • PRO2472 3

External Ids for BORCS6 Gene

Previous HGNC Symbols for BORCS6 Gene

  • C17orf59

Previous GeneCards Identifiers for BORCS6 Gene

  • GC17M008265
  • GC17M008310
  • GC17M008345
  • GC17M008379
  • GC17M008419

Summaries for BORCS6 Gene

GeneCards Summary for BORCS6 Gene

BORCS6 (BLOC-1 Related Complex Subunit 6) is a Protein Coding gene. Among its related pathways are PI3K / Akt Signaling.

UniProtKB/Swiss-Prot for BORCS6 Gene

  • As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor.

Additional gene information for BORCS6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BORCS6 Gene

Genomics for BORCS6 Gene

Regulatory Elements for BORCS6 Gene

Enhancers for BORCS6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H008117 1.4 ENCODE dbSUPER 11.5 +69.6 69640 7 FEZF1 YY1 ZNF143 SP3 ZFP41 SSRP1 ZNF610 GLIS1 RCOR2 NBN NEURL4 SENP3 DVL2 NLGN2 PFAS ENSG00000265749 HES7 LOC100996842 ZBTB4 CTC1
GH17H008126 1.3 ENCODE dbSUPER 11.1 +64.3 64318 2 HDGF ARID4B SIN3A FEZF1 ZNF2 ZNF143 ZNF207 FOS DEK SP3 NEURL4 SENP3 DVL2 PFAS ENSG00000265749 LOC100996842 HES7 PER1 POLR2A SNORD10
GH17H007833 1.9 FANTOM5 ENCODE dbSUPER 6 +351.2 351178 12 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC DVL2 PFAS CTC1 WRAP53 POLR2A CNTROB SNORD10 ENSG00000265749 NLGN2 KDM6B
GH17H007850 1.5 Ensembl ENCODE dbSUPER 5.9 +339.2 339182 2 HDGF PKNOX1 FOXA2 ARID4B SIN3A GLIS2 ELK1 ZNF143 ZNF207 SP3 SENP3 CHD3 ALOX12-AS1 NEURL4 NAA38 CYB5D1 BORCS6 ARHGEF15 KDM6B PIR44061
GH17H007854 1.4 ENCODE dbSUPER 5.9 +333.9 333942 4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 SNORD10 DVL2 PFAS SNORA48 CYB5D1 CTC1 RNASEK SENP3 PER1 CHD3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BORCS6 on UCSC Golden Path with GeneCards custom track

Promoters for BORCS6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090970 1207 1401 HDGF PKNOX1 ARID4B SIN3A FEZF1 YY1 ZNF143 ZNF207 FOS SP3
ENSR00000282327 -1493 401 PKNOX1 ATF1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 TCF12 GATA2

Genomic Location for BORCS6 Gene

Chromosome:
17
Start:
8,188,333 bp from pter
End:
8,190,907 bp from pter
Size:
2,575 bases
Orientation:
Minus strand

Genomic View for BORCS6 Gene

Genes around BORCS6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BORCS6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BORCS6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BORCS6 Gene

Proteins for BORCS6 Gene

  • Protein details for BORCS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GS4-BORC6_HUMAN
    Recommended name:
    BLOC-1-related complex subunit 6
    Protein Accession:
    Q96GS4
    Secondary Accessions:
    • Q53HS4
    • Q9NXW8

    Protein attributes for BORCS6 Gene

    Size:
    357 amino acids
    Molecular mass:
    37226 Da
    Quaternary structure:
    • Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN.
    SequenceCaution:
    • Sequence=AAH09261.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH18880.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH70272.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA90889.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD96226.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for BORCS6 Gene

Post-translational modifications for BORCS6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BORCS6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BORCS6 Gene

Domains & Families for BORCS6 Gene

Gene Families for BORCS6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BORCS6 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96GS4

UniProtKB/Swiss-Prot:

BORC6_HUMAN :
  • Belongs to the BORCS6 family.
Family:
  • Belongs to the BORCS6 family.
genes like me logo Genes that share domains with BORCS6: view

No data available for Suggested Antigen Peptide Sequences for BORCS6 Gene

Function for BORCS6 Gene

Molecular function for BORCS6 Gene

UniProtKB/Swiss-Prot Function:
As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor.

Phenotypes From GWAS Catalog for BORCS6 Gene

Gene Ontology (GO) - Molecular Function for BORCS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with BORCS6: view
genes like me logo Genes that share phenotypes with BORCS6: view

Animal Model Products

CRISPR Products

miRNA for BORCS6 Gene

miRTarBase miRNAs that target BORCS6

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BORCS6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BORCS6 Gene

Localization for BORCS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BORCS6 Gene

Lysosome membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BORCS6 gene
Compartment Confidence
cytosol 5
lysosome 4
extracellular 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BORCS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0016020 membrane IEA --
GO:0099078 BORC complex IDA 25898167
genes like me logo Genes that share ontologies with BORCS6: view

Pathways & Interactions for BORCS6 Gene

SuperPathways for BORCS6 Gene

SuperPathway Contained pathways
1 PI3K / Akt Signaling
genes like me logo Genes that share pathways with BORCS6: view

Pathways by source for BORCS6 Gene

1 Cell Signaling Technology pathway for BORCS6 Gene

Gene Ontology (GO) - Biological Process for BORCS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032418 lysosome localization IMP 25898167
genes like me logo Genes that share ontologies with BORCS6: view

No data available for SIGNOR curated interactions for BORCS6 Gene

Drugs & Compounds for BORCS6 Gene

No Compound Related Data Available

Transcripts for BORCS6 Gene

mRNA/cDNA for BORCS6 Gene

(1) REFSEQ mRNAs :
(58) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BORCS6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for BORCS6 Gene

No ASD Table

Relevant External Links for BORCS6 Gene

GeneLoc Exon Structure for
BORCS6
ECgene alternative splicing isoforms for
BORCS6

Expression for BORCS6 Gene

NURSA nuclear receptor signaling pathways regulating expression of BORCS6 Gene:

BORCS6

Evidence on tissue expression from TISSUES for BORCS6 Gene

  • Liver(4.2)
  • Lung(4.1)
  • Skin(4.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BORCS6 Gene

Orthologs for BORCS6 Gene

This gene was present in the common ancestor of animals.

Orthologs for BORCS6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C17H17orf59 33
  • 99.35 (n)
C17orf59 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C17orf59 34
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C17orf59 34
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C19H17orf59 33 34
  • 84.28 (n)
dog
(Canis familiaris)
Mammalia C5H17orf59 33
  • 81.3 (n)
C17orf59 34
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2310047M10Rik 33 34
  • 80.28 (n)
Borcs6 16
rat
(Rattus norvegicus)
Mammalia LOC497934 33
  • 79.72 (n)
chicken
(Gallus gallus)
Aves C17orf59 34
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C17orf59 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9242 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.11680 33
zebrafish
(Danio rerio)
Actinopterygii C8H17orf59 34
  • 30 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6370 33
fruit fly
(Drosophila melanogaster)
Insecta CG17180 34
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y37E11B.3 34
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10551 34
  • 25 (a)
OneToOne
Species where no ortholog for BORCS6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BORCS6 Gene

ENSEMBL:
Gene Tree for BORCS6 (if available)
TreeFam:
Gene Tree for BORCS6 (if available)

Paralogs for BORCS6 Gene

No data available for Paralogs for BORCS6 Gene

Variants for BORCS6 Gene

Sequence variations from dbSNP and Humsavar for BORCS6 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1001107794 -- 8,188,015(+) AGGTA(A/G)GATGT downstream-variant-500B
rs1002388364 -- 8,188,224(+) AGACA(A/T)CTCCA downstream-variant-500B
rs1002771875 -- 8,188,539(+) AGTGG(C/T)ATGGT utr-variant-3-prime
rs1003060279 -- 8,191,182(+) GGGGG(C/T)CTTGT upstream-variant-2KB
rs1003627579 -- 8,191,982(+) GATGG(A/G)AGGAC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for BORCS6 Gene

Variant ID Type Subtype PubMed ID
nsv527475 CNV loss 19592680
nsv833353 CNV loss 17160897

Variation tolerance for BORCS6 Gene

Residual Variation Intolerance Score: 60.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BORCS6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BORCS6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BORCS6 Gene

Disorders for BORCS6 Gene

Relevant External Links for BORCS6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BORCS6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BORCS6

No disorders were found for BORCS6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BORCS6 Gene

Publications for BORCS6 Gene

  1. BORC, a multisubunit complex that regulates lysosome positioning. (PMID: 25898167) Pu J … Bonifacino JS (Developmental cell 2015) 2 3 4 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  4. Disruption of the Rag-Ragulator Complex by c17orf59 Inhibits mTORC1. (PMID: 26299971) Schweitzer LD … Sabatini DM (Cell reports 2015) 3 60
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60

Products for BORCS6 Gene

Sources for BORCS6 Gene

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