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

Gene ID: 119032, updated on 5-Aug-2022

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
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Genomic context

See BORCS7 in Genome Data Viewer
Location:
10q24.32
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102854259..102864961)
110 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_000010.11Genomic Context describing neighboring genes Neighboring gene prostaglandin E synthase 3 pseudogene 4 Neighboring gene profilin 1 pseudogene 11 Neighboring gene BORCS7-ASMT readthrough (NMD candidate) Neighboring gene U6 spliceosomal RNA Neighboring gene arsenite methyltransferase Neighboring gene ribosomal protein L22 pseudogene 17

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
Component Evidence Code Pubs
part_of BORC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IC
Inferred by Curator
more info
PubMed 

General protein information

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_001136200.2NP_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
    C9K0X3, Q96B45
    UniProtKB/TrEMBL
    A0A0B4J1R7
    Related
    ENSP00000342331.5, ENST00000339834.10
    Conserved Domains (1) summary
    pfam16088
    Location:1104
    BORCS7; BLOC-1-related complex sub-unit 7
  2. NM_144591.5NP_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
    C9K0X3, Q96B45
    UniProtKB/TrEMBL
    A0A0B4J1R7
    Related
    ENSP00000358899.3, ENST00000369883.3
    Conserved Domains (1) summary
    pfam16088
    Location:1104
    BORCS7; BLOC-1-related complex sub-unit 7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)