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Aliases for BORCS7 Gene

Aliases for BORCS7 Gene

  • BLOC-1 Related Complex Subunit 7 2 3 5
  • Diaskedin 2 3 4
  • C10orf32 3 4
  • Chromosome 10 Open Reading Frame 32 2
  • BLOC-1-Related Complex Subunit 7 3
  • UPF0693 Protein C10orf32 3

External Ids for BORCS7 Gene

Previous HGNC Symbols for BORCS7 Gene

  • C10orf32

Summaries for BORCS7 Gene

GeneCards Summary for BORCS7 Gene

BORCS7 (BLOC-1 Related Complex Subunit 7) is a Protein Coding gene. An important paralog of this gene is BORCS7-ASMT.

UniProtKB/Swiss-Prot for BORCS7 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BORCS7 Gene

Genomics for BORCS7 Gene

Regulatory Elements for BORCS7 Gene

Enhancers for BORCS7 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
GH10F103237 1.6 FANTOM5 Ensembl ENCODE 20 +386.2 386159 5.0 PKNOX1 ARID4B SIN3A ZNF48 BRCA1 ZNF121 FOS DEK ZNF263 REST BORCS7 NT5C2 AS3MT INA CNNM2 PFN1P11 PTGES3P4 CYP17A1 RNU11-3P SFXN2
GH10F102811 1.6 FANTOM5 Ensembl ENCODE 12.4 -38.4 -38370 8.4 PKNOX1 ATF1 MLX ARID4B FEZF1 DMAP1 ZNF48 YY1 SLC30A9 SP5 AS3MT BORCS7 CYP17A1 PTGES3P4 PFN1P11 RPEL1 ARL3 SFXN2 CNNM2 WBP1L
GH10F102793 1.4 FANTOM5 Ensembl ENCODE 14 -58.5 -58510 4.2 MXI1 USF1 WRNIP1 MAX RAD21 YY1 ZNF121 ZNF316 POLR2A MAFK BORCS7 SFXN2 AS3MT NFKB2 NT5C2 C10orf95 RNU6-1231P GC10P102744 GC10P102745
GH10F102798 1.4 FANTOM5 Ensembl ENCODE 11.5 -52.4 -52438 5.7 JUN MAX EBF1 RAD21 RELA ZFHX2 POLR2A EGR1 FOS ETV6 NFKB2 BORCS7 AS3MT WBP1L SFXN2 NT5C2 MFSD13A RNU6-1231P GC10P102744 GC10P102745
GH10F102772 1.4 FANTOM5 ENCODE 11.5 -75.6 -75612 11.7 PKNOX1 ZFP64 SIN3A YY1 ZNF121 GLIS2 FOS ZNF263 ZNF202 REST PDCD11 SFXN2 TAF5 ARL3 PPRC1 GBF1 LDB1 AS3MT INA BORCS7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BORCS7 on UCSC Golden Path with GeneCards custom track

Promoters for BORCS7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001426710 291 1400 HDGF ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for BORCS7 Gene

Chromosome:
10
Start:
102,854,210 bp from pter
End:
102,864,961 bp from pter
Size:
10,752 bases
Orientation:
Plus strand

Genomic View for BORCS7 Gene

Genes around BORCS7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BORCS7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BORCS7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BORCS7 Gene

Proteins for BORCS7 Gene

  • Protein details for BORCS7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96B45-BORC7_HUMAN
    Recommended name:
    BLOC-1-related complex subunit 7
    Protein Accession:
    Q96B45
    Secondary Accessions:
    • B2R488
    • B3KUW4
    • C9K0X3

    Protein attributes for BORCS7 Gene

    Size:
    105 amino acids
    Molecular mass:
    11564 Da
    Quaternary structure:
    • Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN.
    Miscellaneous:
    • Diaskedin is from the ancient Greek diaskedazo, meaning to disperse.

neXtProt entry for BORCS7 Gene

Post-translational modifications for BORCS7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BORCS7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BORCS7 Gene

Domains & Families for BORCS7 Gene

Gene Families for BORCS7 Gene

Protein Domains for BORCS7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BORCS7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96B45

UniProtKB/Swiss-Prot:

BORC7_HUMAN :
  • Belongs to the BORCS7 family.
Family:
  • Belongs to the BORCS7 family.
genes like me logo Genes that share domains with BORCS7: view

Function for BORCS7 Gene

Molecular function for BORCS7 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.

Gene Ontology (GO) - Molecular Function for BORCS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25898167
genes like me logo Genes that share ontologies with BORCS7: view
genes like me logo Genes that share phenotypes with BORCS7: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BORCS7 Gene

Localization for BORCS7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BORCS7 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 BORCS7 gene
Compartment Confidence
cytosol 5
nucleus 3
lysosome 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for BORCS7 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 BORCS7: view

Pathways & Interactions for BORCS7 Gene

SuperPathways for BORCS7 Gene

No Data Available

Interacting Proteins for BORCS7 Gene

Selected Interacting proteins: Q96B45-BORC7_HUMAN for BORCS7 Gene via IID

Symbol External ID(s) Details
BORCS6
TEX35

Gene Ontology (GO) - Biological Process for BORCS7 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for BORCS7 Gene

Transcripts for BORCS7 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BORCS7 Gene

No ASD Table

Relevant External Links for BORCS7 Gene

GeneLoc Exon Structure for
BORCS7
ECgene alternative splicing isoforms for
BORCS7

Expression for BORCS7 Gene

NURSA nuclear receptor signaling pathways regulating expression of BORCS7 Gene:

BORCS7
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 and mRNA Expression by UniProt/SwissProt for BORCS7 Gene

Orthologs for BORCS7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BORCS7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C10H10orf32 34
  • 100 (n)
C10ORF32 35
  • 100 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 96 (a)
OneToMany
C26H10orf32 34
  • 91.75 (n)
dog
(Canis familiaris)
Mammalia C28H10orf32 34
  • 92.45 (n)
-- 35
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 2010012O05Rik 34 35
  • 90.16 (n)
Borcs7 16
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 90 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia RGD1311783 34
  • 88.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 88 (a)
OneToMany
chicken
(Gallus gallus)
Aves C6H10ORF32 35 34
  • 79.56 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c10orf32 34
  • 77.02 (n)
Str.2187 34
zebrafish
(Danio rerio)
Actinopterygii C13H10orf32 35
  • 79 (a)
OneToMany
zgc:114169 34
  • 68.95 (n)
Dr.16036 34
Species where no ortholog for BORCS7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for BORCS7 Gene

ENSEMBL:
Gene Tree for BORCS7 (if available)
TreeFam:
Gene Tree for BORCS7 (if available)

Paralogs for BORCS7 Gene

Paralogs for BORCS7 Gene

genes like me logo Genes that share paralogs with BORCS7: view

Variants for BORCS7 Gene

Sequence variations from dbSNP and Humsavar for BORCS7 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10537 -- 102,864,061(-) ACAAC(A/T)GACTC intron-variant, utr-variant-3-prime
rs10786715 -- 102,860,978(+) GGTAA(C/G)TGTGG intron-variant
rs10786716 -- 102,865,421(+) CCGGG(C/T)GTGGT intron-variant
rs10883787 -- 102,858,194(+) ATAGA(G/T)AGAGA intron-variant
rs10883788 -- 102,863,196(+) TGGGC(A/G)TGGTG intron-variant, utr-variant-3-prime

Variation tolerance for BORCS7 Gene

Residual Variation Intolerance Score: 48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BORCS7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BORCS7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BORCS7 Gene

Disorders for BORCS7 Gene

Relevant External Links for BORCS7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BORCS7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BORCS7

No disorders were found for BORCS7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BORCS7 Gene

Publications for BORCS7 Gene

  1. BORC, a multisubunit complex that regulates lysosome positioning. (PMID: 25898167) Pu J. … Bonifacino J.S. (Dev. Cell 2015) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. (PMID: 25249183) Lu X. … Gu D. (Hum. Mol. Genet. 2015) 3 64

Products for BORCS7 Gene

Sources for BORCS7 Gene

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