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Aliases for BORCS5 Gene

Aliases for BORCS5 Gene

  • BLOC-1 Related Complex Subunit 5 2 3 5
  • Myrlysin 2 3 4
  • Loss Of Heterozygosity, 12, Chromosomal Region 1 2 3
  • Myristoylated Lysosomal Protein 3 4
  • LOH12CR1 3 4
  • Loss Of Heterozygosity 12 Chromosomal Region 1 Protein 3
  • Loss Of Heterozygosity 12 Chromosomal Region 1 4
  • BLOC-1-Related Complex Subunit 5 3
  • LOH1CR12 3

External Ids for BORCS5 Gene

Previous HGNC Symbols for BORCS5 Gene

  • LOH12CR1

Summaries for BORCS5 Gene

GeneCards Summary for BORCS5 Gene

BORCS5 (BLOC-1 Related Complex Subunit 5) is a Protein Coding gene.

UniProtKB/Swiss-Prot for BORCS5 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. Thereby, it may indirectly play a role in cell spreading and motility.

Additional gene information for BORCS5 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 BORCS5 Gene

Genomics for BORCS5 Gene

GeneHancer (GH) Regulatory Elements for BORCS5 Gene

Promoters and enhancers for BORCS5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I012356 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 555.8 +0.7 694 2.9 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 ZNF207 LOH12CR2 BORCS5 LRP6 LOC100506248 DDX47 MANSC1 PIR62067 GC12P012340
GH12I012439 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19.3 +84.9 84899 5.9 PKNOX1 FOXA2 ARID4B YY1 SLC30A9 TCF12 ZNF207 FOS RUNX3 RXRA BORCS5 DUSP16 DDX47 ENSG00000240424 CDKN1B CREBL2 APOLD1 BCL2L14 GPR19 GC12P012450
GH12I012448 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.4 +93.2 93222 3 PKNOX1 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 SLC30A9 ATF7 RXRA GC12P012450 DUSP16 CREBL2 ENSG00000240424 GPR19 BORCS5 BCL2L14 ENSG00000271370
GH12I012733 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 8.6 +378.5 378487 4.9 HDGF PKNOX1 FOXA2 RB1 FEZF1 RAD21 YY1 ZNF143 ZNF207 ATF7 CDKN1B APOLD1 DDX47 BORCS5 DUSP16 GPR19 GC12M012732 GC12M012733
GH12I012379 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 8.5 +23.5 23465 2.7 PKNOX1 FOXA2 MLX RAD21 RARA YY1 ZNF766 ATF7 CREM RUNX3 GC12M012376 CDKN1B DUSP16 MANSC1 ENSG00000240424 BORCS5 APOLD1 BCL2L14 GC12M012364 GC12P012364
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BORCS5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BORCS5 Gene

Genomic Locations for BORCS5 Gene
chr12:12,357,079-12,469,694
(GRCh38/hg38)
Size:
112,616 bases
Orientation:
Plus strand
chr12:12,510,013-12,619,840
(GRCh37/hg19)

Genomic View for BORCS5 Gene

Genes around BORCS5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BORCS5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BORCS5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BORCS5 Gene

Proteins for BORCS5 Gene

  • Protein details for BORCS5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969J3-BORC5_HUMAN
    Recommended name:
    BLOC-1-related complex subunit 5
    Protein Accession:
    Q969J3
    Secondary Accessions:
    • Q96QS5

    Protein attributes for BORCS5 Gene

    Size:
    196 amino acids
    Molecular mass:
    22222 Da
    Quaternary structure:
    • Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN (PubMed:25898167). Interacts with ARL8B, KIF5A, KLC1 and PLEKHM2; links the lysosomal BORC complex to the microtubule plus-end-directed kinesin motor (PubMed:25898167).

    Alternative splice isoforms for BORCS5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BORCS5 Gene

Post-translational modifications for BORCS5 Gene

No data available for DME Specific Peptides for BORCS5 Gene

Domains & Families for BORCS5 Gene

Gene Families for BORCS5 Gene

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

Protein Domains for BORCS5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BORCS5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969J3

UniProtKB/Swiss-Prot:

BORC5_HUMAN :
  • Belongs to the BORCS5 family.
Family:
  • Belongs to the BORCS5 family.
genes like me logo Genes that share domains with BORCS5: view

Function for BORCS5 Gene

Molecular function for BORCS5 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. Thereby, it may indirectly play a role in cell spreading and motility.

Phenotypes From GWAS Catalog for BORCS5 Gene

Gene Ontology (GO) - Molecular Function for BORCS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with BORCS5: view
genes like me logo Genes that share phenotypes with BORCS5: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BORCS5 Gene

Localization for BORCS5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BORCS5 Gene

Lysosome membrane; Lipid-anchor; Cytoplasmic side.

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 BORCS5 gene
Compartment Confidence
cytosol 5
lysosome 4
plasma membrane 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BORCS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005873 colocalizes_with plus-end kinesin complex IDA 25898167
GO:0016020 membrane IEA --
GO:0031224 intrinsic component of membrane IMP 25898167
genes like me logo Genes that share ontologies with BORCS5: view

Pathways & Interactions for BORCS5 Gene

SuperPathways for BORCS5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BORCS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032418 lysosome localization IMP,IEA 25898167
GO:0072384 organelle transport along microtubule IMP 25898167
genes like me logo Genes that share ontologies with BORCS5: view

No data available for Pathways by source and SIGNOR curated interactions for BORCS5 Gene

Drugs & Compounds for BORCS5 Gene

No Compound Related Data Available

Transcripts for BORCS5 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BORCS5 Gene

No ASD Table

Relevant External Links for BORCS5 Gene

GeneLoc Exon Structure for
BORCS5
ECgene alternative splicing isoforms for
BORCS5

Expression for BORCS5 Gene

NURSA nuclear receptor signaling pathways regulating expression of BORCS5 Gene:

BORCS5

mRNA Expression by UniProt/SwissProt for BORCS5 Gene:

Q969J3-BORC5_HUMAN
Tissue specificity: Ubiquitously expressed (at protein level).

Evidence on tissue expression from TISSUES for BORCS5 Gene

  • Nervous system(4.2)
  • Liver(4.1)

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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for BORCS5 Gene

Orthologs for BORCS5 Gene

This gene was present in the common ancestor of animals.

Orthologs for BORCS5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOH12CR1 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia LOH12CR1 33 34
  • 92.69 (n)
cow
(Bos Taurus)
Mammalia LOH12CR1 34 33
  • 91.5 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LOH12CR1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Loh12cr1 34 33
  • 87.91 (n)
OneToOne
Borcs5 16
rat
(Rattus norvegicus)
Mammalia Loh12cr1 33
  • 87.91 (n)
oppossum
(Monodelphis domestica)
Mammalia LOH12CR1 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOH12CR1 34 33
  • 80.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LOH12CR1 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia loh12cr1 33
  • 74.78 (n)
zebrafish
(Danio rerio)
Actinopterygii loh12cr1 33 34
  • 72.96 (n)
Dr.18715 33
fruit fly
(Drosophila melanogaster)
Insecta CG11802 33 34
  • 49.26 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009657 33
  • 46.63 (n)
worm
(Caenorhabditis elegans)
Secernentea F59E12.11 34
  • 19 (a)
OneToOne
Species where no ortholog for BORCS5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 BORCS5 Gene

ENSEMBL:
Gene Tree for BORCS5 (if available)
TreeFam:
Gene Tree for BORCS5 (if available)

Paralogs for BORCS5 Gene

No data available for Paralogs for BORCS5 Gene

Variants for BORCS5 Gene

Sequence variations from dbSNP and Humsavar for BORCS5 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1114167299 likely-pathogenic, Abnormality of the cerebral cortex, Agenesis of corpus callosum, Global developmental delay, Microcephaly, Polymicrogyria, Seizures 12,435,627(+) G/T splice_acceptor_variant
rs1000000798 -- 12,459,176(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000011795 -- 12,377,370(+) G/T intron_variant
rs1000012767 -- 12,387,754(+) C/T intron_variant
rs1000013614 -- 12,393,270(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BORCS5 Gene

Variant ID Type Subtype PubMed ID
dgv1391n100 CNV loss 25217958
dgv1392n100 CNV loss 25217958
dgv15n64 CNV loss 17921354
dgv187n27 CNV loss 19166990
dgv2386n54 CNV loss 21841781
dgv2387n54 CNV loss 21841781
dgv2388n54 CNV loss 21841781
dgv269e199 CNV deletion 23128226
dgv462e212 CNV loss 25503493
dgv773n106 CNV deletion 24896259
esv1628398 OTHER inversion 17803354
esv2421794 CNV deletion 20811451
esv2506365 OTHER inversion 19546169
esv2662165 CNV deletion 23128226
esv2673347 CNV deletion 23128226
esv2745567 CNV deletion 23290073
esv2745568 CNV deletion 23290073
esv2760275 CNV loss 21179565
esv2760855 CNV loss 21179565
esv2863346 CNV insertion 24192839
esv3390197 OTHER inversion 20981092
esv3392226 OTHER inversion 20981092
esv3548774 CNV deletion 23714750
esv3628607 CNV loss 21293372
esv3628608 CNV loss 21293372
esv3628609 CNV loss 21293372
esv3628610 OTHER inversion 21293372
esv3628611 CNV loss 21293372
esv3628612 CNV loss 21293372
esv5706 OTHER inversion 19470904
esv994164 OTHER inversion 20482838
nsv1041842 CNV loss 25217958
nsv1045637 CNV gain 25217958
nsv1046355 CNV loss 25217958
nsv1077768 OTHER inversion 25765185
nsv1159983 CNV deletion 26073780
nsv1159984 CNV deletion 26073780
nsv1159985 CNV deletion 26073780
nsv436659 OTHER inversion 17901297
nsv437141 CNV loss 16327808
nsv442636 CNV loss 18776908
nsv513696 OTHER inversion 21212237
nsv513697 OTHER inversion 21212237
nsv514649 CNV loss 21397061
nsv517152 CNV loss 19592680
nsv557584 CNV loss 21841781
nsv557585 CNV loss 21841781
nsv557605 CNV loss 21841781
nsv557606 CNV loss 21841781
nsv818893 CNV loss 17921354
nsv951329 CNV duplication 24416366

Variation tolerance for BORCS5 Gene

Residual Variation Intolerance Score: 71.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.96; 68.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BORCS5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BORCS5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BORCS5 Gene

Disorders for BORCS5 Gene

No disorders were found for BORCS5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BORCS5 Gene

Publications for BORCS5 Gene

  1. BORC, a multisubunit complex that regulates lysosome positioning. (PMID: 25898167) Pu J … Bonifacino JS (Developmental cell 2015) 2 3 4 58
  2. A detailed transcriptional map of the chromosome 12p12 tumour suppressor locus. (PMID: 11896457) Montpetit A … Sinnett D (European journal of human genetics : EJHG 2002) 2 3 4 58
  3. Mutational and expression analysis of the chromosome 12p candidate tumor suppressor genes in pre-B acute lymphoblastic leukemia. (PMID: 15284860) Montpetit A … Sinnett D (Leukemia 2004) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for BORCS5 Gene

Sources for BORCS5 Gene

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