U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 3044, updated on 1-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
11p15.4
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5241954..5243592, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5301327..5302961, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

Go to the top of the page Help

Markers

Other Names

  • beta globin pseudogene
  • hemoglobin, beta pseudogene 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

RNA

  1. NR_001589.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC104389, N55205

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.