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HBS1 like translational GTPase - Wikipedia

️Fri Sep 22 2017

From Wikipedia, the free encyclopedia

HBS1L

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
1UFZ

Identifiers

Aliases

HBS1L, EF-1a, ERFS, HBS1, HSPC276, eRF3c, HBS1 like translational GTPase

External IDs

OMIM: 612450; MGI: 1891704; HomoloGene: 68525; GeneCards: HBS1L; OMA:HBS1L - orthologs

Gene location (Human)

Chr.	Chromosome 6 (human)^[1]

Band	6q23.3	Start	134,960,378 bp^[1]
End	135,103,056 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 10 (mouse)^[2]

Band	10\|10 A3	Start	21,171,878 bp^[2]
End	21,244,797 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

Achilles tendon

gastrocnemius muscle

C1 segment

muscle of thigh

ventricular zone

islet of Langerhans

ganglionic eminence

epithelium of colon

stromal cell of endometrium

triceps brachii muscle

Top expressed in

spermatid

spermatocyte

lens

vastus lateralis muscle

cardiac muscle tissue of left ventricle

digastric muscle

ventricular zone

sternocleidomastoid muscle

epiblast

primitive streak

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	nucleotide binding GTP binding GTPase activity translation elongation factor activity protein binding
Cellular component	extracellular exosome intracellular anatomical structure membrane cytosol
Biological process	translational elongation protein biosynthesis signal transduction exonucleolytic catabolism of deadenylated mRNA
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


10767


56422

Ensembl


ENSG00000112339


ENSMUSG00000019977

UniProt


Q9Y450


Q69ZS7

RefSeq (mRNA)


NM_001145158 NM_001145207 NM_006620 NM_001363686


NM_001042593 NM_001145209 NM_019702

RefSeq (protein)


NP_001138630 NP_001138679 NP_006611 NP_001350615 NP_006611.1


NP_001036058 NP_001138681 NP_062676

Location (UCSC)

Chr 6: 134.96 – 135.1 Mb

Chr 10: 21.17 – 21.24 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

HBS1 like translational GTPase is a protein that in humans is encoded by the HBS1L gene. ^[5]

This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level^{[citation needed]}, and this region influences erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000112339 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000019977 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: HBS1 like translational GTPase". Retrieved 2017-09-22.

Thein SL, Menzel S, Peng X, Best S, Jiang J, Close J, Silver N, Gerovasilli A, Ping C, Yamaguchi M, Wahlberg K, Ulug P, Spector TD, Garner C, Matsuda F, Farrall M, Lathrop M (2007). "Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults". Proc. Natl. Acad. Sci. U.S.A. 104 (27): 11346–51. Bibcode:2007PNAS..10411346T. doi:10.1073/pnas.0611393104. PMC 2040901. PMID 17592125.
Menzel S, Jiang J, Silver N, Gallagher J, Cunningham J, Surdulescu G, Lathrop M, Farrall M, Spector TD, Thein SL (2007). "The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans". Blood. 110 (10): 3624–6. doi:10.1182/blood-2007-05-093419. PMID 17712044.
Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH (2008). "DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease". Proc. Natl. Acad. Sci. U.S.A. 105 (33): 11869–74. doi:10.1073/pnas.0804799105. PMC 2491485. PMID 18667698.
Pandit RA, Svasti S, Sripichai O, Munkongdee T, Triwitayakorn K, Winichagoon P, Fucharoen S, Peerapittayamongkol C (2008). "Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E". Int. J. Hematol. 88 (4): 357–61. doi:10.1007/s12185-008-0167-3. PMID 18839276. S2CID 11140450.
Pandit RA, Svasti S, Sripichai O, Munkongdee T, Triwitayakorn K, Winichagoon P, Fucharoen S, Peerapittayamongkol C (2008). "Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E". Int. J. Hematol. 88 (4): 357–61. doi:10.1007/s12185-008-0167-3. PMID 18839276. S2CID 11140450.
Creary LE, Ulug P, Menzel S, McKenzie CA, Hanchard NA, Taylor V, Farrall M, Forrester TE, Thein SL (2009). "Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients". PLOS ONE. 4 (1): e4218. Bibcode:2009PLoSO...4.4218C. doi:10.1371/journal.pone.0004218. PMC 2621086. PMID 19148297.
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Ganesh SK, Zakai NA, van Rooij FJ, Soranzo N, Smith AV, Nalls MA, Chen MH, Kottgen A, Glazer NL, Dehghan A, Kuhnel B, Aspelund T, Yang Q, Tanaka T, Jaffe A, Bis JC, Verwoert GC, Teumer A, Fox CS, Guralnik JM, Ehret GB, Rice K, Felix JF, Rendon A, Eiriksdottir G, Levy D, Patel KV, Boerwinkle E, Rotter JI, Hofman A, Sambrook JG, Hernandez DG, Zheng G, Bandinelli S, Singleton AB, Coresh J, Lumley T, Uitterlinden AG, Vangils JM, Launer LJ, Cupples LA, Oostra BA, Zwaginga JJ, Ouwehand WH, Thein SL, Meisinger C, Deloukas P, Nauck M, Spector TD, Gieger C, Gudnason V, van Duijn CM, Psaty BM, Ferrucci L, Chakravarti A, Greinacher A, O'Donnell CJ, Witteman JC, Furth S, Cushman M, Harris TB, Lin JP (2009). "Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium". Nat. Genet. 41 (11): 1191–8. doi:10.1038/ng.466. PMC 2778265. PMID 19862010.
Nuinoon M, Makarasara W, Mushiroda T, Setianingsih I, Wahidiyat PA, Sripichai O, Kumasaka N, Takahashi A, Svasti S, Munkongdee T, Mahasirimongkol S, Peerapittayamongkol C, Viprakasit V, Kamatani N, Winichagoon P, Kubo M, Nakamura Y, Fucharoen S (2010). "A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E". Hum. Genet. 127 (3): 303–14. doi:10.1007/s00439-009-0770-2. PMID 20183929. S2CID 24365475.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.