HBS1L
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHBS1L, EF-1a, ERFS, HBS1, HSPC276, eRF3c, HBS1 like translational GTPase
External IDsOMIM: 612450 MGI: 1891704 HomoloGene: 68525 GeneCards: HBS1L
Orthologs
SpeciesHumanMouse
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 MbChr 10: 21.17 – 21.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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, 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.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000112339 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019977 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: HBS1 like translational GTPase". Retrieved 2017-09-22.

Further reading


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

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