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
  • BLOC-1-Related Complex Subunit 5 3 4
  • 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
  • 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. Diseases associated with BORCS5 include Autosomal Dominant Non-Syndromic Intellectual Disability 6.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for BORCS5 Gene

Genomics for BORCS5 Gene

GeneHancer (GH) Regulatory Elements for BORCS5 Gene


GeneHancers around BORCS5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BORCS5

Genomic Locations for BORCS5 Gene

Genomic Locations for BORCS5 Gene
chr12:12,357,078-12,471,233
(GRCh38/hg38)
Size:
114,156 bases
Orientation:
Plus strand
chr12:12,510,013-12,619,840
(GRCh37/hg19)
Size:
109,828 bases
Orientation:
Plus strand

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

  • Myristoylation at Gly-2 mediates attachment to lysosome membranes.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References 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:
  • Loss of heterozygosity 12 chromosomal region 1 protein (L12R1_HUMAN)

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

Animal Model Products

CRISPR Products

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
nucleus 2
plasma membrane 1
cytoskeleton 1
endosome 1

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:0030672 synaptic vesicle membrane IBA 21873635
genes like me logo Genes that share ontologies with BORCS5: view

Pathways & Interactions for BORCS5 Gene

PathCards logo

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 IBA,IMP 25898167
GO:0072384 organelle transport along microtubule IMP 25898167
GO:1903744 positive regulation of anterograde synaptic vesicle transport IBA 21873635
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

mRNA/cDNA for BORCS5 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for BORCS5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOH12CR1 31 30
  • 92.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LOH12CR1 31 30
  • 91.5 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LOH12CR1 31
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Loh12cr1 31 30
  • 87.91 (n)
OneToOne
Borcs5 17
rat
(Rattus norvegicus)
Mammalia Loh12cr1 30
  • 87.91 (n)
oppossum
(Monodelphis domestica)
Mammalia LOH12CR1 31
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOH12CR1 31 30
  • 80.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LOH12CR1 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia loh12cr1 30
  • 74.78 (n)
zebrafish
(Danio rerio)
Actinopterygii loh12cr1 31 30
  • 72.96 (n)
OneToOne
Dr.18715 30
fruit fly
(Drosophila melanogaster)
Insecta CG11802 31 30
  • 49.26 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009657 30
  • 46.63 (n)
worm
(Caenorhabditis elegans)
Secernentea F59E12.11 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BORCS5: view image

Paralogs for BORCS5 Gene

No data available for Paralogs for BORCS5 Gene

Variants for BORCS5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BORCS5 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1555155556 Likely Pathogenic: Microcephaly; Seizures; Global developmental delay; Corpus callosum agenesis; Polymicrogyria; Abnormality of the cerebral cortex 12,435,627(+) G/T SPLICE_ACCEPTOR_VARIANT
rs3741795 - p.Ser41Cys
rs3751262 - p.Asp191Asn

Additional dbSNP identifiers (rs#s) for BORCS5 Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for BORCS5 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BORCS5

genes like me logo Genes that share disorders with BORCS5: view

No data available for 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 54
  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 54
  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 54
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54
  5. LOH12CR1 is a Novel Tumor Suppressor Inhibiting Tumor Growth Through Deregulation of G1/S Checkpoint in Human Colorectal Carcinoma. (PMID: 29879888) Huang H … Shi X (Current molecular medicine 2018) 3 54

Products for BORCS5 Gene

Sources for BORCS5 Gene