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Details on Person UniProt:Q14692 BMS1
| Class:Id | ReferenceGeneProduct:50910 |
|---|---|
| _chainChangeLog | chain:1-1282 added on Sat February 7 2015 |
| _displayName | UniProt:Q14692 BMS1 |
| _timestamp | 2025-05-21 21:23:06 |
| chain | chain:1-1282 |
| checksum | 54A736ED250A5138 |
| comment | FUNCTION GTPase required for the synthesis of 40S ribosomal subunits and for processing of pre-ribosomal RNA (pre-rRNA) at sites A0, A1, and A2. Controls access of pre-rRNA intermediates to RCL1 during ribosome biogenesis by binding RCL1 in a GTP-dependent manner, and delivering it to pre-ribosomes. GTP-binding and/or GTP hydrolysis may induce conformational rearrangements within the BMS1-RCL1 complex allowing the interaction of RCL1 with its RNA substrate. Required for RCL1 import into the nucleus.CATALYTIC ACTIVITY GTP + H2O = GDP + phosphate + H(+)SUBUNIT Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3 (PubMed:34516797). Interacts with RCL1 (PubMed:27474224).INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. BMS1 subfamily.SEQUENCE CAUTION Extended N-terminus. |
| description | recommendedName: Ribosome biogenesis protein BMS1 homolog ecNumber evidence="1"3.6.5.- alternativeName: Ribosome assembly protein BMS1 homolog |
| geneName | BMS1 BMS1L KIAA0187 |
| identifier | Q14692 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure ATP-binding Disease variant Ectodermal dysplasia GTP-binding Hydrolase Isopeptide bond Nucleotide-binding Nucleus Phosphoprotein Proteomics identification Reference proteome Ribosome biogenesis Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | BMS1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8988287] ENSEMBL:ENSG00000165733 BMS1 [Homo sapiens] |
| secondaryIdentifier | BMS1_HUMAN Q5QPT5 Q86XJ9 |
| sequenceLength | 1282 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:6790720] BMS1 [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q14692 BMS1 (50910)
