| URN | urn:agi-llid:10767 |
|---|---|
| Total Entities | 0 |
| Connectivity | 39 |
| Name | Hbs1l |
| Description | HBS1-like (S. cerevisiae) |
| Notes | 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] |
| GO Molecular Function | GTPase activity |
|---|---|
| translation elongation factor activity | |
| nucleotide binding | |
| GTP binding |
| GO Biological Process | signal transduction |
|---|---|
| translation | |
| translational elongation |
| Pathway | translation pathway |
|---|
| Group | Translation |
|---|---|
| GTPase activity | |
| signal transduction | |
| translation | |
| translational elongation | |
| translation elongation factor activity | |
| nucleotide binding | |
| GTP binding |
| LocusLink ID | 10767 |
|---|---|
| 56422 | |
| 293408 |
| Cell Localization | Cytoplasm |
|---|
| GO ID | 0005525 |
|---|---|
| 0003924 | |
| 0003746 | |
| 0007165 | |
| 0006412 | |
| 0000166 | |
| 0006414 |
| Alias | ERFS |
|---|---|
| HBS1 | |
| EF-1a | |
| HSPC276 | |
| RP11-349J5.1 | |
| HBS1-like protein | |
| ERF3-similar protein | |
| Hsp70 subfamily B suppressor 1-like protein | |
| AI326327 | |
| 2810035F15Rik | |
| eukaryotic release factor 3 | |
| KIAA1038 | |
| HBS1 (S CEREVISIAE)-like | |
| HBS1-like | |
| HBS1-like (S. cerevisiae) | |
| OTTHUMP00000017252 | |
| OTTHUMP00000017253 | |
| OTTHUMP00000017254 | |
| HBS I | |
| RIKEN cDNA 2810035F15 gene | |
| DKFZp686L13262 | |
| 2810035F15 | |
| HBS1L | |
| GTP binding protein similar to S. cerevisiae HBS1 | |
| 2810035F15Rik(2) | |
| DKFZp434g247 | |
| ERFS HBS I | |
| ERFS HBS1 | |
| GTP binding protein similar to S. cerevisiae HBS I |
| Mouse chromosome position | 10 |
|---|
| OMIM ID | 612450 |
|---|
| Rat chromosome position | 1p12 |
|---|
| Hugo ID | 4834 |
|---|
| Human chromosome position | 6q23.3 |
|---|
| Swiss-Prot Accession | Q9Y450 |
|---|---|
| D9YZV0 | |
| Q3TGM7 | |
| L7N209 | |
| Q69ZS7 | |
| Q6AXM7 | |
| B7Z365 | |
| Q4VX89 | |
| Q4VX90 | |
| Q5T7G3 | |
| Q8NDW9 | |
| Q9UPW3 | |
| Q91Z32 | |
| Q9CVT2 | |
| Q9CZ95 | |
| Q9WTY5 |
| Unigene ID | Hs.378532 |
|---|---|
| Mm.25527 | |
| Rn.98198 |
| KEGG ID | hsa:10767 |
|---|---|
| mmu:56422 | |
| rno:293408 |
| Swiss-Prot ID | HBS1L_HUMAN |
|---|---|
| HBS1L_RAT | |
| HBS1L_MOUSE |
| Ensembl ID | ENSG00000112339 |
|---|---|
| ENSP00000356796 | |
| ENST00000367822 | |
| ENSP00000356811 | |
| ENST00000367837 | |
| ENSMUSG00000019977 | |
| ENSMUSP00000090344 | |
| ENSMUST00000092674 | |
| ENSMUSP00000020153 | |
| ENSMUST00000020153 | |
| ENSRNOG00000014531 | |
| ENSRNOP00000019734 | |
| ENSRNOT00000019734 |
| Homologene ID | 68525 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 1891704 |
|---|
| RGD ID | 1308509 |
|---|
| MedScan ID | 10767 |
|---|