Format

Send to:

Choose Destination

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

Gene ID: 119032, updated on 8-Dec-2018

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
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
Expression
Ubiquitous expression in thyroid (RPKM 32.6), adrenal (RPKM 31.2) and 25 other tissues See more
Orthologs

Genomic context

See BORCS7 in Genome Data Viewer
Location:
10q24.32
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (102854210..102864961)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104613967..104624718)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene BORCS7-ASMT readthrough (NMD candidate) Neighboring gene prostaglandin E synthase 3 pseudogene 4 Neighboring gene profilin 1 pseudogene 11 Neighboring gene arsenite methyltransferase Neighboring gene translation initiation factor IF-2-like Neighboring gene ribosomal protein L22 pseudogene 17 Neighboring gene cyclin and CBS domain divalent metal cation transport mediator 2

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Genome-wide association study identifies chromosome 10q24.32 variants associated with arsenic metabolism and toxicity phenotypes in Bangladesh.
NHGRI GWA Catalog
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
NHGRI GWA Catalog
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA 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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
BORC complex IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001136200.1NP_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
    Q96B45
    UniProtKB/TrEMBL
    A0A0B4J1R7
    Related
    ENSP00000342331.5, ENST00000339834.9
    Conserved Domains (1) summary
    pfam16088
    Location:1104
    UPF0693; UPF0693 family
  2. NM_144591.3NP_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
    Q96B45
    UniProtKB/TrEMBL
    A0A0B4J1R7
    Related
    ENSP00000358899.3, ENST00000369883.3
    Conserved Domains (1) summary
    pfam16088
    Location:1104
    UPF0693; UPF0693 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    102854210..102864961
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center