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

Summary

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: Part of BORC complex. [provided by Alliance of Genome Resources, Apr 2022]
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

Location:: 10q24.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (102854259..102864961)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (103740043..103750745)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (104614016..104624718)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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

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

PMC156606P2 (e-PCR)
- UniSTS:271409

L18426 (e-PCR)
- UniSTS:34648

D10S1565 (e-PCR)
- UniSTS:45667

D15S1477 (e-PCR)
- UniSTS:474482

D11S3114 (e-PCR)
- UniSTS:152207

RH93016 (e-PCR)
- UniSTS:92834

SHGC-36540 (e-PCR)
- UniSTS:64481

Readthrough BORCS7-ASMT

Readthrough gene: BORCS7-ASMT, Included gene: AS3MT

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 lysosome localization	NAS Non-traceable Author Statement more info	PubMed
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

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)

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
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