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    LOC106627981 GBA recombination region [ Homo sapiens (human) ]

    Gene ID: 106627981, updated on 17-Sep-2024

    Summary

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    Gene symbol
    LOC106627981
    Gene description
    GBA recombination region
    Gene type
    biological region
    Feature type(s)
    misc_recomb: non_allelic_homologous
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This region is known to undergo non-allelic homologous recombination (NAHR) with another region with high sequence similarity, the GBAP1 recombination region, which is located about 15.5 kb centromere-proximal to this region. This region overlaps sequences within both the glucosidase, beta, acid (GBA) gene and metaxin 1 pseudogene 1 (MTX1P1), located near the 3' end of GBA, in tail-to-tail orientation. NAHR between regions within the GBA gene and its pseudogene, GBAP1 (glucosidase, beta, acid pseudogene 1), or, between MTX1P1 and the parental gene, MTX1 (metaxin 1), can result in different rearrangements, including deletions of the intervening sequence, duplications, and gene conversion events. Such alterations can be a cause of Gaucher's disease, an autosomal recessive glycolipid storage disease. The region represented here is composed of multiple sub-regions, named a-e, which have been identified as NAHR exchange sites in different individuals. The majority of NAHR events reported are contained within sub-region e. [provided by RefSeq, Oct 2016]
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    Genomic context

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    See LOC106627981 in Genome Data Viewer
    Location:
    1q21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155233639..155240092)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154372196..154378650)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155203430..155209883)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155165957-155166792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155166793-155167628 Neighboring gene THBS3 antisense RNA 1 Neighboring gene thrombospondin 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155176689-155177472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1398 Neighboring gene GBAP1 recombination region Neighboring gene metaxin 1 Neighboring gene glucosylceramidase beta 1 like, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155196727-155197304 Neighboring gene metaxin 1 like, pseudogene Neighboring gene glucosylceramidase beta 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155213585-155214548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155219706-155220308 Neighboring gene endosomal transmembrane epsin interactor 3 Neighboring gene secretory carrier membrane protein 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene. Tayebi N, et al. Hum Genet, 2000 Oct. PMID 11129343
    2. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease. Cormand B, et al. Blood Cells Mol Dis, 2000 Oct. PMID 11112377
    3. Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling. Filocamo M, et al. Blood Cells Mol Dis, 2000 Aug. PMID 11042032
    4. Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus. Reissner K, et al. Mol Genet Metab, 1998 Apr. PMID 9635296
    5. Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease. Tayebi N, et al. Pediatr Res, 1998 May. PMID 9585001

    See all (12) citations in PubMed

    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 Variation Viewer (GRCh37.p13)

    General gene information

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    Other Names

    • glucosidase, beta, acid recombination region

    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.

    Genomic

    1. NG_042867.1 

      Range
      101..6554
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155233639..155240092
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315906.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      38662..45115
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154372196..154378650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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