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

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

Summary

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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

General gene information

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)