Format

Send to:

Choose Destination

BORCS5 BLOC-1 related complex subunit 5 [ Homo sapiens (human) ]

Gene ID: 118426, updated on 7-Jun-2020

Summary

Official Symbol
BORCS5provided by HGNC
Official Full Name
BLOC-1 related complex subunit 5provided by HGNC
Primary source
HGNC:HGNC:17950
See related
Ensembl:ENSG00000165714 MIM:616598
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
LOH12CR1; LOH1CR12
Expression
Ubiquitous expression in brain (RPKM 2.1), bone marrow (RPKM 1.5) and 25 other tissues See more
Orthologs

Genomic context

See BORCS5 in Genome Data Viewer
Location:
12p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (12357078..12471233)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (12509967..12637587)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr12.586 Neighboring gene loss of heterozygosity on chromosome 12, region 2 Neighboring gene adaptor related protein complex 3 subunit sigma 1 pseudogene Neighboring gene uncharacterized LOC107984485 Neighboring gene dual specificity phosphatase 16 Neighboring gene ribosomal protein L19 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

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
lysosome localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
organelle transport along microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
organelle transport along microtubule IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of anterograde synaptic vesicle transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
BORC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BORC complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic side of lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic side of lysosomal membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
intrinsic component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intrinsic component of membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
colocalizes_with plus-end kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with plus-end kinesin complex IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
BLOC-1-related complex subunit 5
Names
loss of heterozygosity 12 chromosomal region 1 protein
loss of heterozygosity, 12, chromosomal region 1
myristoylated lysosomal protein
myrlysin

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_001300742.3NP_001287671.1  BLOC-1-related complex subunit 5 isoform 2

    See identical proteins and their annotated locations for NP_001287671.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon, resulting in the use of an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus, and is shorter compared to isoform 1.
    Source sequence(s)
    AC007619, AC007621, AK075028, AW449789, BP260903
    Consensus CDS
    CCDS73448.1
    UniProtKB/Swiss-Prot
    Q969J3
    UniProtKB/TrEMBL
    G3V1P3
    Related
    ENSP00000443023.1, ENST00000542728.5
    Conserved Domains (1) summary
    pfam10158
    Location:42172
    LOH1CR12; tumor suppressor protein
  2. NM_001330356.2NP_001317285.1  BLOC-1-related complex subunit 5 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (3) has the same N- and C-termini, but is shorter than isoform 1.
    Source sequence(s)
    AC007619, AC007621, AK075028, AW449789, AY037866
    Consensus CDS
    CCDS81669.1
    UniProtKB/Swiss-Prot
    Q969J3
    Related
    ENSP00000298571.6, ENST00000298571.6
    Conserved Domains (1) summary
    pfam10158
    Location:20143
    LOH1CR12; tumor suppressor protein
  3. NM_058169.6NP_477517.1  BLOC-1-related complex subunit 5 isoform 1

    See identical proteins and their annotated locations for NP_477517.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC007619, AC007621, AK075028, AW449789
    Consensus CDS
    CCDS8649.1
    UniProtKB/Swiss-Prot
    Q969J3
    Related
    ENSP00000321546.4, ENST00000314565.9
    Conserved Domains (1) summary
    pfam10158
    Location:61191
    LOH1CR12; tumor suppressor protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    12357078..12471233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520551.2XP_011518853.1  BLOC-1-related complex subunit 5 isoform X1

    See identical proteins and their annotated locations for XP_011518853.1

    Conserved Domains (1) summary
    pfam10158
    Location:31161
    LOH1CR12; Tumour suppressor protein
  2. XM_011520553.2XP_011518855.1  BLOC-1-related complex subunit 5 isoform X2

    See identical proteins and their annotated locations for XP_011518855.1

    Conserved Domains (1) summary
    pfam10158
    Location:61120
    LOH1CR12; Tumour suppressor protein
  3. XM_017018778.1XP_016874267.1  BLOC-1-related complex subunit 5 isoform X3

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332696.1 Reference GRCh38.p13 PATCHES

    Range
    326076..440236
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center