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

    Gene ID: 118426, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:17950
    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
    Summary
    Involved in lysosome localization and organelle transport along microtubule. Located in cytoplasmic side of lysosomal membrane; plasma membrane; and plus-end kinesin complex. Part of BORC complex. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 2.1), bone marrow (RPKM 1.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See BORCS5 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (12357078..12471233)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (12226205..12340409)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (12510012..12624167)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MANSC domain containing 1 Neighboring gene ribosomal protein L23a pseudogene 66 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4252 Neighboring gene CRISPRi-validated cis-regulatory element chr12.586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12509797-12510475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6011 Neighboring gene loss of heterozygosity on chromosome 12, region 2 Neighboring gene Sharpr-MPRA regulatory region 10643 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:12560630-12560819 Neighboring gene Sharpr-MPRA regulatory region 7135 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:12592110-12593309 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25257 Neighboring gene adaptor related protein complex 3 subunit sigma 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:12610012-12610690 Neighboring gene dual specificity phosphatase 16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12686984-12687949 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12688131-12688632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4258 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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lysosome localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lysosome localization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in organelle transport along microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in organelle transport along microtubule IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in organelle transport along microtubule NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of anterograde synaptic vesicle transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 
    is_active_in cytoplasmic side of lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic side of lysosomal membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytoplasmic side of lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    part_of plus-end kinesin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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)

    NEW Try the new Transcript table

    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/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, Q96QS5
      Related
      ENSP00000321546.4, ENST00000314565.9
      Conserved Domains (1) summary
      pfam10158
      Location:61191
      LOH1CR12; tumor suppressor protein

    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_000012.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011520551.3XP_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; tumor suppressor protein
    2. XM_011520553.3XP_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_047428271.1XP_047284227.1  BLOC-1-related complex subunit 5 isoform X1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332696.1 Reference GRCh38.p14 PATCHES

      Range
      326073..440236
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331697.1XP_054187672.1  BLOC-1-related complex subunit 5 isoform X1

    2. XM_054331698.1XP_054187673.1  BLOC-1-related complex subunit 5 isoform X2

    3. XM_054331696.1XP_054187671.1  BLOC-1-related complex subunit 5 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      12226205..12340409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371042.1XP_054227017.1  BLOC-1-related complex subunit 5 isoform X1

    2. XM_054371043.1XP_054227018.1  BLOC-1-related complex subunit 5 isoform X2

    3. XM_054371040.1XP_054227015.1  BLOC-1-related complex subunit 5 isoform X3

      UniProtKB/TrEMBL
      G3V1P3
    4. XM_054371041.1XP_054227016.1  BLOC-1-related complex subunit 5 isoform X1