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    BOLA2-SMG1P6 BOLA2-SMG1P6 readthrough [ Homo sapiens (human) ]

    Gene ID: 107282092, updated on 17-Jun-2019

    Summary

    Official Symbol
    BOLA2-SMG1P6provided by HGNC
    Official Full Name
    BOLA2-SMG1P6 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:53563
    See related
    Ensembl:ENSG00000261740
    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
    Summary
    This gene represents naturally-occurring readthrough transcription between the upstream BOLA2 (bolA family member 2) and downstream SMG1 pseudogene 6 (SMG1P6) loci. Alternative splicing results in multiple transcript variants, some of which may encode proteins with an N-terminus similar to BOLA2 and a C-terminus related to SMG1 phosphatidylinositol 3-kinase-related kinase. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in bone marrow (RPKM 25.1), duodenum (RPKM 18.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See BOLA2-SMG1P6 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (29442905..29454964, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene sorting nexin 29 pseudogene 2 Neighboring gene nuclear pore complex interacting protein family member B11 Neighboring gene SMG1 pseudogene 6 Neighboring gene SLX1B-SULT1A4 readthrough (NMD candidate) Neighboring gene coronin 1A pseudogene Neighboring gene uncharacterized LOC101928556 Neighboring gene bolA family member 2 Neighboring gene SAGA complex associated factor 29 pseudogene Neighboring gene SLX1 homolog B, structure-specific endonuclease subunit Neighboring gene sulfotransferase family 1A member 4 Neighboring gene nuclear pore complex interacting protein family member B12

    Genomic regions, transcripts, and products

    Genomic Sequence:
    NC_000016.10 Chromosome 16 Reference GRCh38.p13 Primary Assembly

    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

    General gene information

    Homology

    Clone Names

    • FLJ23602, FLJ40558, FLJ53018, MGC163273, MGC163275

    General protein information

    Preferred Names
    BOLA2-SMG1P6 protein
    Names
    BOLA2-SMG1P6 readthrough protein

    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_001320622.1NP_001307551.1  BOLA2-SMG1P6 protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC133555, AK295153, BM451872
      UniProtKB/TrEMBL
      B4DHK7
    2. NM_001320623.1NP_001307552.1  BOLA2-SMG1P6 protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses two alternate splice sites in the coding region, resulting in a region containing a frameshift, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC133555, AK295153, DA438012
      UniProtKB/TrEMBL
      B4DHK7
      Related
      ENSP00000458075.1, ENST00000569622.5
      Conserved Domains (1) summary
      cl00386
      Location:78119
      BolA; BolA-like protein
    3. NM_001320624.1NP_001307553.1  BOLA2-SMG1P6 protein isoform c

      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 (c) is shorter than isoform a.
      Source sequence(s)
      AC133555, AK295153, BG030350
      UniProtKB/TrEMBL
      B4DHK7
    4. NM_001320625.1NP_001307554.1  BOLA2-SMG1P6 protein isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon and uses an alternate splice site in the 5' coding region, and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (d) has a distinct, shorter N-terminus than isoform a.
      Source sequence(s)
      AC133555, AK295153, BG282633, DA438012
      UniProtKB/TrEMBL
      B4DHK7
    5. NM_001320627.1NP_001307556.1  BOLA2-SMG1P6 protein isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (e) has a shorter N-terminus than isoform a. Variants 5 and 6 encode the same isoform (e).
      Source sequence(s)
      AC133555, AK295153, BM696373
      UniProtKB/TrEMBL
      B4DHK7
    6. NM_001320628.1NP_001307557.1  BOLA2-SMG1P6 protein isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus than isoform a. Variants 5 and 6 encode the same isoform (e).
      Source sequence(s)
      AC133555, AK295153, BM696373
      UniProtKB/TrEMBL
      B4DHK7

    RNA

    1. NR_135316.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses an alternate splice site and lacks an exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC133555, AK295153, BI517472

    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.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      29442905..29454964 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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