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    HBBP1 hemoglobin subunit beta pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 3044, updated on 17-Sep-2024

    Summary

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    Official Symbol
    HBBP1provided by HGNC
    Official Full Name
    hemoglobin subunit beta pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:4828
    See related
    AllianceGenome:HGNC:4828
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HBH1; HBHP; HBHps
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    Genomic context

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    See HBBP1 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5241954..5243592, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5301327..5302961, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5263184..5264822, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene origin of replication at HBB Neighboring gene beta-globin gene 3' regulatory region Neighboring gene HBB recombination region Neighboring gene hemoglobin subunit beta Neighboring gene HBD recombination region Neighboring gene delta-globin 5' regulatory region Neighboring gene hemoglobin subunit delta Neighboring gene A-gamma-globin 3' regulatory region Neighboring gene beta globin locus transcript 3 Neighboring gene HBG1 recombination region Neighboring gene hemoglobin subunit gamma 1

    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. Genome-wide analysis of pseudogenes reveals HBBP1's human-specific essentiality in erythropoiesis and implication in β-thalassemia. Ma Y, et al. Dev Cell, 2021 Feb 22. PMID 33476555
    2. Genome-wide analysis of aberrantly expressed lncRNAs and miRNAs with associated co-expression and ceRNA networks in β-thalassemia and hereditary persistence of fetal hemoglobin. Lai K, et al. Oncotarget, 2017 Jul 25. PMID 28624809, Free PMC Article
    3. A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype. Giannopoulou E, et al. Hemoglobin, 2012. PMID 22943111
    4. Isolation and nucleotide sequence analysis of the beta-type globin pseudogene from human, gorilla and chimpanzee. Chang LY, et al. J Mol Biol, 1984 Dec 25. PMID 6098690
    5. Influence of BCL11A, HBS1L-MYB, HBBP1 single nucleotide polymorphisms and the HBG2 XmnI polymorphism On Hb F levels. Roy P, et al. Hemoglobin, 2012. PMID 23094636

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genome-wide analysis of pseudogenes reveals HBBP1's human-specific essentiality in erythropoiesis and implication in beta-thalassemia.
      Title: Genome-wide analysis of pseudogenes reveals HBBP1's human-specific essentiality in erythropoiesis and implication in β-thalassemia.
    2. Long noncoding RNA HBBP1 enhances gamma-globin expression through the ETS transcription factor ELK1.
      Title: Long noncoding RNA HBBP1 enhances γ-globin expression through the ETS transcription factor ELK1.
    3. A significant association of Hb F levels with HBBP1 single nucleotide polymorphism rs2071348 was found.
      Title: Influence of BCL11A, HBS1L-MYB, HBBP1 single nucleotide polymorphisms and the HBG2 XmnI polymorphism On Hb F levels.
    4. A single nucleotide polymorphism in the HBBP1 gene in the human beta-globin locus is associated with a mild beta-thalassemia disease phenotype.
      Title: A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
    EBI GWAS Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Other Names

    • beta globin pseudogene
    • hemoglobin, beta pseudogene 1

    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.

    RNA

    1. NR_001589.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC104389, N55205

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      5241954..5243592 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      5301327..5302961 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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