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    BLOC1S2 biogenesis of lysosomal organelles complex 1 subunit 2 [ Homo sapiens (human) ]

    Gene ID: 282991, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BLOC1S2provided by HGNC
    Official Full Name
    biogenesis of lysosomal organelles complex 1 subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:20984
    See related
    Ensembl:ENSG00000196072 MIM:609768; AllianceGenome:HGNC:20984
    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
    CEAP; BLOS2; BORCS2; CEAP11
    Summary
    This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in bone marrow (RPKM 15.8), brain (RPKM 15.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BLOC1S2 in Genome Data Viewer
    Location:
    10q24.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (100273278..100286680, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (101157544..101170974, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102033035..102046437, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CWF19 like cell cycle control factor 1 Neighboring gene PHB1 pseudogene 9 Neighboring gene RNA, U6 small nuclear 422, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3885 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:102045671-102046178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2705 Neighboring gene polycystin 2 like 1, transient receptor potential cation channel Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3888 Neighboring gene Sharpr-MPRA regulatory region 15237 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:102106425-102107016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102114334-102114834 Neighboring gene stearoyl-CoA desaturase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Characterization of Ceap-11 and Ceap-16, two novel splicing-variant-proteins, associated with centrosome, microtubule aggregation and cell proliferation. Wang Z, et al. J Mol Biol, 2004 Oct 8. PMID 15381421
    2. Ceap/BLOS2 interacts with BRD7 and selectively inhibits its transcription-suppressing effect on cellular proliferation-associated genes. Sun J, et al. Cell Signal, 2008 Jun. PMID 18329849
    3. BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis. Gdynia G, et al. Apoptosis, 2008 Mar. PMID 18188704
    4. Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin. Monfregola J, et al. J Biol Chem, 2010 May 28. PMID 20308062, Free PMC Article
    5. Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. Moriyama K, et al. Traffic, 2002 Sep. PMID 12191018

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. WASH is a bimodular protein and a component of the BLOC-1 complex in which the C terminus is involved in Arp2/3-mediated actin nucleation, whereas the N-terminal portion is required for its regulation and localization in the cells
      Title: Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin.
    2. we have explored ways of efficiently gathering high-quality information about candidate binding partners fob bloc1s2
      Title: A data-mining approach to rank candidate protein-binding partners-The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
    3. BLOC1S2 protein is widely expressed in normal tissue as well as in malignant tumors with a tendency towards lower expression levels in certain subtypes of tumors. Over-expression of BLOC1S2 in the presence or absence of HIPPI does not induce apoptosis.
      Title: BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis.
    4. Biogenesis of lysosome-related organelles complex-1 (BLOC-1) subunit 2 (BLOS2).BLOC-1 is required for the biogenesis of melanosomes and platelet dense granules.
      Title: Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ30135, MGC10120

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gamma-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables gamma-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in anterograde synaptic vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in extrinsic apoptotic signaling pathway via death domain receptors IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 melanosome organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in microtubule nucleation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial outer membrane permeabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in organelle transport along microtubule NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in platelet dense granule organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    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 BLOC-1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BLOC-1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of BLOC-1 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic side of lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of gamma-tubulin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of gamma-tubulin complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    biogenesis of lysosome-related organelles complex 1 subunit 2
    Names
    11 kDa centrosome associated protein
    BLOC-1 subunit 2
    centrosomal 10 kDa protein
    centrosome protein oncogene

    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_001001342.2 → NP_001001342.1  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2

      See identical proteins and their annotated locations for NP_001001342.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1. Variants 2, 4, and 5 encode the same isoform (2).
      Source sequence(s)
      AK054697, AL138921, BX112121, HY107885
      UniProtKB/Swiss-Prot
      Q6QNY1
      Related
      ENSP00000410865.1, ENST00000441611.5
      Conserved Domains (1) summary
      pfam10046
      Location:1 → 94
      BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2

    2. NM_001282436.2 → NP_001269365.1  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 3

      See identical proteins and their annotated locations for NP_001269365.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (3) with a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL138921, AL139819, BF666010, BX112121, CB118026
      Consensus CDS
      CCDS73179.1
      UniProtKB/TrEMBL
      A0A087X1N6
      Related
      ENSP00000484340.1, ENST00000618916.4
      Conserved Domains (1) summary
      pfam10046
      Location:11 → 90
      BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2

    3. NM_001282437.2 → NP_001269366.1  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2

      See identical proteins and their annotated locations for NP_001269366.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Variants 2, 4, and 5 encode the same isoform (2).
      Source sequence(s)
      AL138921, BX112121, CB118026, CN340962
      UniProtKB/Swiss-Prot
      Q6QNY1
      Conserved Domains (1) summary
      pfam10046
      Location:1 → 94
      BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2

    4. NM_001282438.1 → NP_001269367.1  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2

      See identical proteins and their annotated locations for NP_001269367.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1. Variants 2, 4, and 5 encode the same isoform (2).
      Source sequence(s)
      AL138921, BU740315, BX112121, CB218039, DB296446, HY165508
      UniProtKB/Swiss-Prot
      Q6QNY1
      Related
      ENSP00000481847.1, ENST00000614731.4
      Conserved Domains (1) summary
      pfam10046
      Location:1 → 94
      BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2

    5. NM_001282439.2 → NP_001269368.1  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AL138921, BU608851, BX112121, CB218039, DB296446, DB456773
      Conserved Domains (1) summary
      pfam10046
      Location:43 → 136
      BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2

    6. NM_173809.5 → NP_776170.2  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_776170.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK298969, AL138921, BX112121, CB118026
      Consensus CDS
      CCDS7490.1
      UniProtKB/Swiss-Prot
      B4DQV2, Q5W040, Q6QNY1, Q8WUI8
      UniProtKB/TrEMBL
      F1T0F0
      Related
      ENSP00000359398.2, ENST00000370372.7
      Conserved Domains (1) summary
      pfam10046
      Location:43 → 137
      BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      100273278..100286680 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      101157544..101170974 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6QNY1.1 GenPept UniProtKB/Swiss-Prot:Q6QNY1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
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