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    BORCS7 BLOC-1 related complex subunit 7 [ Homo sapiens (human) ]

    Gene ID: 119032, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BORCS7provided by HGNC
    Official Full Name
    BLOC-1 related complex subunit 7provided by HGNC
    Primary source
    HGNC:HGNC:23516
    See related
    Ensembl:ENSG00000166275 MIM:616600; AllianceGenome:HGNC:23516
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C10orf32
    Summary
    Predicted to act upstream of or within several processes, including lysosome localization; motor behavior; and response to cycloheximide. Part of BORC complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 32.6), adrenal (RPKM 31.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BORCS7 in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102854259..102864961)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103740043..103750745)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104614016..104624718)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene prostaglandin E synthase 3 pseudogene 4 Neighboring gene profilin 1 pseudogene 11 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104613536-104614049 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104614050-104614562 Neighboring gene BORCS7-ASMT readthrough (NMD candidate) Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104615359-104616331 Neighboring gene uncharacterized LOC124902567 Neighboring gene arsenite methyltransferase Neighboring gene ribosomal protein L22 pseudogene 17

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Association of single nucleotide polymorphism with arsenic-induced skin lesions and genetic damage in exposed population of West Bengal, India. Das N, et al. Mutat Res Genet Toxicol Environ Mutagen, 2016 Oct. PMID 27692299
    2. The effect of a genetic variant at the schizophrenia associated AS3MT/BORCS7 locus on striatal dopamine function: A PET imaging study. D'Ambrosio E, et al. Psychiatry Res Neuroimaging, 2019 Sep 30. PMID 31386983, Free PMC Article
    3. A human-specific AS3MT isoform and BORCS7 are molecular risk factors in the 10q24.32 schizophrenia-associated locus. Li M, et al. Nat Med, 2016 Jun. PMID 27158905
    4. Genome-wide association study identifies chromosome 10q24.32 variants associated with arsenic metabolism and toxicity phenotypes in Bangladesh. Pierce BL, et al. PLoS Genet, 2012. PMID 22383894, Free PMC Article
    5. Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain. Duarte RRR, et al. Am J Med Genet B Neuropsychiatr Genet, 2016 Sep. PMID 27004590, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.
      Title: BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.
    2. effect of a genetic variant at the schizophrenia associated AS3MT/BORCS7 locus on striatal dopamine function: a PET imaging study
      Title: The effect of a genetic variant at the schizophrenia associated AS3MT/BORCS7 locus on striatal dopamine function: A PET imaging study.
    3. this study implicates altered neural expression of BORCS7, AS3MT, and NT5C2 in susceptibility to schizophrenia arising from genetic variation at the chromosome 10q24 locus
      Title: Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain.
    4. Risk alleles spanning multiple genes across the 10q24.32 schizophrenia-related locus are associated in the human brain selectively with an increase in the expression of both BLOC-1 related complex subunit 7 (BORCS7) and a previously uncharacterized, human-specific arsenite methyltransferase (AS3MT) isoform (AS3MTd2d3).
      Title: A human-specific AS3MT isoform and BORCS7 are molecular risk factors in the 10q24.32 schizophrenia-associated locus.
    5. Sngle nucleotide polymorphism in c10orf32 gene is associated with skin lesions.
      Title: Association of single nucleotide polymorphism with arsenic-induced skin lesions and genetic damage in exposed population of West Bengal, India.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Genome-wide association study identifies chromosome 10q24.32 variants associated with arsenic metabolism and toxicity phenotypes in Bangladesh.
    EBI GWAS Catalog
    Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
    EBI GWAS Catalog
    Genome-wide association study reveals genetic risk underlying Parkinson's disease.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough BORCS7-ASMT

    Readthrough gene: BORCS7-ASMT, Included gene: AS3MT

    Homology

    Clone Names

    • FLJ40752, MGC27171, DKFZp686B2219

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lysosome localization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in motor behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in organelle transport along microtubule NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of endosome size NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of lysosome size NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to cycloheximide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in walking behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of BORC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BORC complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of BORC complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytoplasmic side of lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BLOC-1-related complex subunit 7
    Names
    UPF0693 protein C10orf32
    diaskedin

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001136200.2 → NP_001129672.1  BLOC-1-related complex subunit 7

      See identical proteins and their annotated locations for NP_001129672.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA299084, AI147530, AK098071, AL832477, AW058660, BP419064, DA006534
      Consensus CDS
      CCDS7542.2
      UniProtKB/Swiss-Prot
      B2R488, B3KUW4, C9K0X3, Q96B45
      UniProtKB/TrEMBL
      A0A0B4J1R7
      Related
      ENSP00000342331.5, ENST00000339834.10
      Conserved Domains (1) summary
      pfam16088
      Location:1 → 104
      BORCS7; BLOC-1-related complex sub-unit 7

    2. NM_144591.5 → NP_653192.2  BLOC-1-related complex subunit 7

      See identical proteins and their annotated locations for NP_653192.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a segment of the 3' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA299084, AI147530, AW058660, BC015994, BP419064, DA006534
      Consensus CDS
      CCDS7542.2
      UniProtKB/Swiss-Prot
      B2R488, B3KUW4, C9K0X3, Q96B45
      UniProtKB/TrEMBL
      A0A0B4J1R7
      Related
      ENSP00000358899.3, ENST00000369883.3
      Conserved Domains (1) summary
      pfam16088
      Location:1 → 104
      BORCS7; BLOC-1-related complex sub-unit 7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      102854259..102864961
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      103740043..103750745
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96B45.2 GenPept UniProtKB/Swiss-Prot:Q96B45

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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