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Aliases for BORCS5 Gene

Aliases for BORCS5 Gene

  • BLOC-1 Related Complex Subunit 5 2 3 5
  • Loss Of Heterozygosity, 12, Chromosomal Region 1 2 3
  • Myrlysin 2 3
  • LOH12CR1 3 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.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BORCS5 Gene

Genomics for BORCS5 Gene

Regulatory Elements for BORCS5 Gene

Enhancers for BORCS5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BORCS5 on UCSC Golden Path with GeneCards custom track

Promoters for BORCS5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BORCS5 on UCSC Golden Path with GeneCards custom track

Genomic Location for BORCS5 Gene

Chromosome:
12
Start:
12,357,079 bp from pter
End:
12,469,694 bp from pter
Size:
112,616 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-L12R1_HUMAN
    Recommended name:
    Loss of heterozygosity 12 chromosomal region 1 protein
    Protein Accession:
    Q969J3
    Secondary Accessions:
    • Q96QS5

    Protein attributes for BORCS5 Gene

    Size:
    196 amino acids
    Molecular mass:
    22222 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BORCS5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BORCS5 Gene

Proteomics data for BORCS5 Gene at MOPED

Post-translational modifications for BORCS5 Gene

  • 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

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:

L12R1_HUMAN :
  • Belongs to the LOH12CR1 family.
Family:
  • Belongs to the LOH12CR1 family.
genes like me logo Genes that share domains with BORCS5: view

Function for BORCS5 Gene

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

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Membrane; Lipid-anchor.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for BORCS5 Gene

Pathways & Interactions for BORCS5 Gene

SuperPathways for BORCS5 Gene

No Data Available

Interacting Proteins for BORCS5 Gene

Gene Ontology (GO) - Biological Process for BORCS5 Gene

None

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

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

mRNA Expression by UniProt/SwissProt for BORCS5 Gene

Q969J3-L12R1_HUMAN
Tissue specificity: Widely expressed.

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 and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia LOH12CR1 35
  • 91.5 (n)
  • 97.96 (a)
LOH12CR1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOH12CR1 35
  • 92.69 (n)
  • 95.92 (a)
LOH12CR1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Loh12cr1 35
  • 87.91 (n)
  • 95.85 (a)
Borcs5 16
Loh12cr1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOH12CR1 35
  • 99.49 (n)
  • 99.49 (a)
LOH12CR1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Loh12cr1 35
  • 87.91 (n)
  • 94.82 (a)
oppossum
(Monodelphis domestica)
Mammalia LOH12CR1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LOH12CR1 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOH12CR1 35
  • 80.63 (n)
  • 89.39 (a)
LOH12CR1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LOH12CR1 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia loh12cr1 35
  • 74.78 (n)
  • 82.38 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.18715 35
loh12cr1 35
  • 72.96 (n)
  • 82.78 (a)
loh12cr1 36
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009657 35
  • 46.63 (n)
  • 32.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11802 35
  • 49.26 (n)
  • 37.78 (a)
CG11802 36
  • 19 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F59E12.11 36
  • 19 (a)
OneToOne
Species with no ortholog for BORCS5:
  • 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 Sequence Context AA Info Type
rs2013675 -- 12,452,444(+) GCCGC(G/T)GTTTC intron-variant
rs2041928 -- 12,373,777(+) TGAGC(A/G)ATTTA intron-variant
rs7133837 -- 12,378,567(+) gtcaa(A/G)gtctt intron-variant
rs2080519 -- 12,370,630(+) tgcgg(A/G)aacag intron-variant
rs7133988 -- 12,460,318(+) tgtta(C/T)gtaga intron-variant

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for BORCS5 Gene

Disorders for BORCS5 Gene

Relevant External Links for BORCS5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BORCS5

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. A detailed transcriptional map of the chromosome 12p12 tumour suppressor locus. (PMID: 11896457) Montpetit A. … Sinnett D. (Eur. J. Hum. Genet. 2002) 2 3 4 67
  2. BORC, a multisubunit complex that regulates lysosome positioning. (PMID: 25898167) Pu J. … Bonifacino J.S. (Dev. Cell 2015) 2 3
  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
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for BORCS5 Gene

Sources for BORCS5 Gene

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