Entity Details

Primary name SBDS_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y3A5
EntryNameSBDS_HUMAN
FullNameRibosome maturation protein SBDS
TaxID9606
Evidenceevidence at protein level
Length250
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesSBDS

GO terms

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GOName
GO:0000922 spindle pole
GO:0001833 inner cell mass cell proliferation
GO:0002244 hematopoietic progenitor cell differentiation
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006364 rRNA processing
GO:0007052 mitotic spindle organization
GO:0008017 microtubule binding
GO:0019843 rRNA binding
GO:0030282 bone mineralization
GO:0030595 leukocyte chemotaxis
GO:0042256 mature ribosome assembly
GO:0043022 ribosome binding
GO:0048539 bone marrow development

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR002140 Ribosome maturation protein Sdo1/SBDSFamilyFamily
IPR018023 Ribosome maturation protein SBDS, conserved siteSiteConserved site
IPR018978 Ribosome maturation protein Sdo1/SBDS, C-terminalDomainDomain
IPR019783 Ribosome maturation protein Sdo1/SBDS, N-terminalDomainDomain
IPR036786 Ribosome maturation protein SBDS, N-terminal domain superfamilyFamilyHomologous superfamily
IPR037188 Ribosome maturation protein Sdo1/SBDS, central domain superfamilyFamilyHomologous superfamily
IPR039100 Ribosome maturation protein Sdo1/SBDS-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
260400 OMIMShwachman-Diamond syndrome 1 (SDS1)A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS1 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.