Version 5.4
Homo sapiens Gene: HBS1L
Summary
InnateDB Gene IDBG-96822.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HBS1L
Gene Name HBS1-like (S. cerevisiae)
Synonyms EF-1a; eRF3c; ERFS; HBS1; HSPC276
Species Homo sapiens
Ensembl Gene ENSG00000112339
Encoded Proteins
IDBP-96824
HBS1-like (S. cerevisiae)
IDBP-96828
HBS1-like (S. cerevisiae)
IDBP-96832
HBS1-like (S. cerevisiae)
IDBP-96834
HBS1-like (S. cerevisiae)
IDBP-96836
HBS1-like (S. cerevisiae)
IDBP-387351
HBS1-like (S. cerevisiae)
IDBP-585025
HBS1-like (S. cerevisiae)
IDBP-585868
HBS1-like (S. cerevisiae)
IDBP-601454
HBS1-like (S. cerevisiae)
IDBP-588276
HBS1-like (S. cerevisiae)
IDBP-588490
HBS1-like (S. cerevisiae)
IDBP-598016
HBS1-like (S. cerevisiae)
IDBP-588444
HBS1-like (S. cerevisiae)
IDBP-591698
HBS1-like (S. cerevisiae)
IDBP-586640
HBS1-like (S. cerevisiae)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:134960378-135103056
Strand Reverse strand
Band q23.3
Transcripts
ENST00000367837 ENSP00000356811
ENST00000367826 ENSP00000356800
ENST00000367822 ENSP00000356796
ENST00000367820 ENSP00000356794
ENST00000314674 ENSP00000323566
ENST00000415177 ENSP00000389826
ENST00000527005
ENST00000527578 ENSP00000436256
ENST00000533274 ENSP00000434533
ENST00000526100 ENSP00000433161
ENST00000529169 ENSP00000436472
ENST00000529641 ENSP00000436620
ENST00000527507 ENSP00000432092
ENST00000524715 ENSP00000434855
ENST00000529882 ENSP00000433030
ENST00000525067 ENSP00000435608
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 18 [view]
Protein-Protein 17 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003746 translation elongation factor activity
GO:0003924 GTPase activity
GO:0005525 GTP binding
Biological Process
GO:0006184 GTP catabolic process
GO:0006412 translation
GO:0006414 translational elongation
GO:0007165 signal transduction
Cellular Component
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000019977
View Gene Order
ENSBTAG00000020174
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa03015
mRNA surveillance pathway pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.378532 Hs.595111
RefSeq NM_001145158 NM_001145207 NM_006620 XM_006715320
HUGO
OMIM
CCDS CCDS47479 CCDS47480 CCDS5173
HPRD 06582
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca