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    Bloc1s2 biogenesis of lysosomal organelles complex-1, subunit 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 293938, updated on 5-Mar-2024

    Summary

    Official Symbol
    Bloc1s2provided by RGD
    Official Full Name
    biogenesis of lysosomal organelles complex-1, subunit 2provided by RGD
    Primary source
    RGD:1306551
    See related
    Ensembl:ENSRNOG00000012684 AllianceGenome:RGD:1306551
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Sep1; RSEP1
    Summary
    Enables protein C-terminus binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in centrosome; nucleus; and recycling endosome. Orthologous to human BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Thymus (RPKM 161.4), Spleen (RPKM 152.4) and 9 other tissues See more
    Orthologs
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    Genomic context

    Location:
    1q54
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (252973818..252980873, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (243024611..243031749, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (263913901..263920989, complement)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene CWF19 like cell cycle control factor 1 Neighboring gene small nucleolar RNA, H/ACA box 12 Neighboring gene uncharacterized LOC134484059 Neighboring gene polycystin 2 like 1, transient receptor potential cation channel Neighboring gene RNA, U6 small nuclear 630 Neighboring gene stearoyl-coenzyme A desaturase 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables gamma-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables gamma-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables gamma-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in anterograde axonal transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in anterograde synaptic vesicle transport ISO
    Inferred from Sequence Orthology
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extrinsic apoptotic signaling pathway via death domain receptors ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in extrinsic apoptotic signaling pathway via death domain receptors ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in lysosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lysosome localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosome localization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lysosome localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitochondrial outer membrane permeabilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial outer membrane permeabilization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitochondrial outer membrane permeabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    part_of BLOC-1 complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of BLOC-1 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of BORC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of BORC complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of BORC complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of BORC complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    part_of gamma-tubulin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of gamma-tubulin complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of gamma-tubulin complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    biogenesis of lysosome-related organelles complex-1 subunit 2
    Names
    BLOC-1 subunit 2
    spinal cord-expressed protein 1

    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_001037349.2NP_001032426.1  biogenesis of lysosome-related organelles complex-1 subunit 2

      See identical proteins and their annotated locations for NP_001032426.1

      Status: VALIDATED

      Source sequence(s)
      AY786315, CK220925
      UniProtKB/Swiss-Prot
      Q32WR5
      UniProtKB/TrEMBL
      A0A8L2UJ11, A6JHF0
      Related
      ENSRNOP00000017006.6, ENSRNOT00000017006.8
      Conserved Domains (1) summary
      pfam10046
      Location:43137
      BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086019.1 Reference GRCr8

      Range
      252973818..252980873 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_008760400.4XP_008758622.1  biogenesis of lysosome-related organelles complex-1 subunit 2 isoform X2

      See identical proteins and their annotated locations for XP_008758622.1

      UniProtKB/TrEMBL
      A6JHF1
      Conserved Domains (1) summary
      pfam10046
      Location:194
      BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2
    2. XM_063287056.1XP_063143126.1  biogenesis of lysosome-related organelles complex-1 subunit 2 isoform X1