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

    Gene ID: 107282092, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BOLA2-SMG1P6provided by HGNC
    Official Full Name
    BOLA2-SMG1P6 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:53563
    See related
    AllianceGenome:HGNC:53563
    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
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    Genomic context

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    See BOLA2-SMG1P6 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29442905..29454964, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (29724697..29736755, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29454226..29466285, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29393253-29393874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29393875-29394494 Neighboring gene nuclear pore complex interacting protein family member B11 Neighboring gene SMG1 pseudogene 6 Neighboring gene small nucleolar RNA U13 Neighboring gene coronin 1A pseudogene Neighboring gene SLX1B-SULT1A4 readthrough (NMD candidate) Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:29465349-29466088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29466829-29467566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29470053-29470888 Neighboring gene bolA family member 2 Neighboring gene SLX1 homolog B, structure-specific endonuclease subunit Neighboring gene sulfotransferase family 1A member 4 Neighboring gene SAGA complex associated factor 29 pseudogene

    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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    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Clone Names

    • FLJ23602, FLJ40558, FLJ53018, MGC163273, MGC163275

    General protein information

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

    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_001320622.1 → NP_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_001320623.1 → NP_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
      Conserved Domains (1) summary
      cl00386
      Location:78 → 119
      BolA; BolA-like protein

    3. NM_001320624.1 → NP_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_001320625.1 → NP_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_001320627.1 → NP_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_001320628.1 → NP_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: 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_000016.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      29724697..29736755 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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