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

Gene ID: 119032, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 32.6), adrenal (RPKM 31.2) and 25 other tissues See more
Orthologs
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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)

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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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

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