GeneID: 18
Names
| Common Name: | pseudo β | Type: | Pseudogene |
|---|---|---|---|
| Chromosome: | 11 (NC_000011.10) | Locus: | NG_000007.3 (β-locus) |
| HUGO Symbol: | HBBP1 | Full Name: | hemoglobin subunit beta pseudogene 1 |
| Exons: | N/A | Introns: | N/A |
Description:
While five out of the six genes in the beta-globin cluster encode functional proteins, one of the genes called HBBP1 does not produce a recognizable protein product. It was thus classified as a pseudogene (a broken defunct remnant) because of its assumed non-functionality. HBBP1 includes an intact promoter and clear exon-intron junctions. It is non-variable and mutation intolerant. Analysis of the HBBP1 pseudogene region for gene-function data, related to the ENCODE project, revealed that it is actively associated with transcriptional (gene control) regulation in conjunction with the LCR region that controls the whole beta-globin gene cluster. Genetics variants in the HBBP1 pseudogene have been associated with a mild beta-thalassemia disease phenotype, as well as with changes in fetal hemoglobin levels in sickle cell disease. Moreover, functional assays demonstrated that HBBP1is essential for human erythropoiesis by competitively binding the RNA-binding protein (RBP) HNRNPA1, and upregulating TAL1, a key regulator of erythropoiesis. The HBBP1/TAL1 interaction contributes to a milder symptom in β-thalassemia patients.
Synonyms: HBH1 , HBHP
Comments:
N/A
Number of entries/variants: 63
Sequence Viewer
Publications / Origin
- Ma Q, Abel K, Sripichai O, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Fucharoen S, Braun A, Farrer LA, Beta-globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia., Clin. Genet. , 72(6), 497-505, 2007 PubMed
- ENCODE Project Consortium, Bernstein BE, Birney E, Dunham I, Green ED, Gunter C, Snyder M, An integrated encyclopedia of DNA elements in the human genome., Nature , 489(7414), 57-74, 2012 PubMed
- Giannopoulou E, Bartsakoulia M, Tafrali C, Kourakli A, Poulas K, Stavrou EF, Papachatzopoulou A, Georgitsi M, Patrinos GP, A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype., Hemoglobin , 36(5), 433-45, 2012 PubMed
- Ma Y, Liu S, Gao J, Chen C, Zhang X, Yuan H, Chen Z, Yin X, Sun C, Mao Y, Zhou F, Shao Y, Liu Q, Xu J, Cheng L, Yu D, Li P, Yi P, He J, Geng G, Guo Q, Si Y, Zhao H, Li H, Banes GL, Liu H, Nakamura Y, Kurita R, Huang Y, Wang X, Wang F, Fang G, Engel JD, Shi L, Zhang YE, Yu J, Genome-wide analysis of pseudogenes reveals HBBP1's human-specific essentiality in erythropoiesis and implication in β-thalassemia., Dev Cell, 56(4), 478-493.e11, 2021 PubMed