Entity Details

Primary name BMS1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14692
EntryNameBMS1_HUMAN
FullNameRibosome biogenesis protein BMS1 homolog
TaxID9606
Evidenceevidence at protein level
Length1282
SequenceStatuscomplete
DateCreated2002-12-13
DateModified2021-06-02

Ontological Relatives

GenesBMS1

GO terms

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GOName
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
GO:0000479 endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
GO:0003723 RNA binding
GO:0003924 GTPase activity
GO:0005524 ATP binding
GO:0005525 GTP binding
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005730 nucleolus
GO:0006364 rRNA processing
GO:0030686 90S preribosome
GO:0034511 U3 snoRNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR007034 Ribosome biogenesis protein BMS1/TSR1, C-terminalDomainDomain
IPR012948 AARP2CNDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR030387 Bms1/Tsr1-type G domainDomainDomain
IPR037875 Ribosome biogenesis protein Bms1, N-terminalDomainDomain
IPR039761 Ribosome biogenesis protein Bms1/Tsr1FamilyFamily

Diseases

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Disease IDSourceNameDescription
107600 OMIMAplasia cutis congenita, non-syndromic (ACC)A disorder characterized by congenital absence of a portion of skin in a localized or widespread area of the body. The lesions are most commonly localized on the scalp, however aplasia cutis congenita can affect any part of the body. The disease is caused by variants affecting the gene represented in this entry.