Tbio HBS1L HBS1-like protein

Protein Summary

Description

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 influnces 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. [provided by RefSeq, May 2009]

Uniprot Accession IDs

• Q9Y450
• B7Z365
• Q4VX89
• Q4VX90
• Q5T7G3
• Q8NDW9
• Q9UPW3

Gene Name

• HBS1L

Ensembl ID

• ENST00000367822
• ENSP00000356796
• ENSG00000112339
• ENST00000367826
• ENSP00000356800
• ENST00000367837
• ENSP00000356811

Symbol

• HBS1
• KIAA1038
• ERFS
• HBS1
• EF-1a
• eRF3c
• HSPC276

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor perturbation	0.96
molecular function	0.95
protein domain	0.92
interacting protein	0.88
transcription factor binding site profile	0.82

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Rna Binding Protein / Translation Factor / Translation Initiation Factor / Hbs1-like Protein

Protein / Nucleic Acid Binding / Rna Binding Protein / Translation Factor / Translation Elongation Factor / Hbs1-like Protein

Protein / Hydrolase / Hbs1-like Protein

Protein / Enzyme Modulator / G-protein / Hbs1-like Protein

DTO Classes

Protein / Enzyme / Hydrolase / Hbs1-like Protein

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1149.43   (req: < 5)

Gene RIFs: 27   (req: <= 3)

Antibodies: 317   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1149.43   (req: >= 5)

Gene RIFs: 27   (req: > 3)

Antibodies: 317   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0