GeneID: 133
Names
Common Name: | OR51V1-HBB | Type: | Intergenic Region |
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Chromosome: | 11 (NC_000011.10) | Locus: | N/A |
HUGO Symbol: | OR51V1-HBB | Full Name: | N/A |
Exons: | N/A | Introns: | N/A |
Description:
OR51V1 encodes the olfactory receptor family 51 subfamily V member 1. Olfactory receptors (ORs) belong to the large family of G-protein-coupled receptors (GPCR) and are located on the sensory neurons of nasal epithelium. ORs bind to odorant molecules and transduce signals via a G protein, in turn activating downstream effector molecules that trigger the perception of smell. The OR gene family is the largest in the genome and exists as clusters of genes in specific genomic locations. The β-globin (HBB) gene locus is surrounded by a large cluster of OR genes. HBB is a globin protein produced by the HBB gene located in the multigene locus of β-globin locus on chromosome 11, specifically on the short arm position 15.5. The combination of two β-globin chains and two α-globin chains forms adult haemoglobin (HbA; α2β2). The order of the genes in the beta-globin cluster is: 5'-ε(HBE)-Gγ(HBG2)-Aγ(HBG1)-ψβ(HBBP1)-δ(HBD)-β(HBB)-3'. Polymorphisms in this intergenic region (OR51V1-HBB) associated with HbF levels in sickle cell patients.
Synonyms: N/A
Comments:
N/A
Number of entries/variants: 3
External Links
No available links
IthaScore
Sequence Viewer
Publications / Origin
- Bulger M, Bender MA, van Doorninck JH, Wertman B, Farrell CM, Felsenfeld G, Groudine M, Hardison R, Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters., Proc. Natl. Acad. Sci. U.S.A. , 97(26), 14560-5, 2000 PubMed
- Malnic B, Godfrey PA, Buck LB, The human olfactory receptor gene family., Proc. Natl. Acad. Sci. U.S.A. , 101(8), 2584-9, 2004 PubMed
- Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A, Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia., Proc. Natl. Acad. Sci. U.S.A. , 105(5), 1620-5, 2008 PubMed
- Van Ziffle J, Yang W, Chehab FF, Homozygous deletion of six olfactory receptor genes in a subset of individuals with Beta-thalassemia., PLoS ONE , 6(2), e17327, 2011 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2016-04-27 16:41:41 | The IthaGenes Curation Team | Created |
2 | 2016-04-28 11:19:37 | The IthaGenes Curation Team | Reviewed. |