• Gene id: 51119

Gene Summary

• Gene Symbol: SBDS   Gene   UCSC   Ensembl
• Aliases: CGI-97, SDS, SWDS
• Gene name: SBDS ribosome maturation factor
• Alternate names: ribosome maturation protein SBDS, SBDS, ribosome assembly guanine nucleotide exchange factor,
• Gene location: 7q11.21 (66995585: 66987679)     Exons: 5     NC_000007.14
• Gene summary(Entrez): This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal
• OMIM: 607444

Protein Summary

• Protein general information: Q9Y3A5  
  • Name: Ribosome maturation protein SBDS (Shwachman Bodian Diamond syndrome protein)
  • Length: 250  
  • Mass: 28764
  • Tissue specificity: Widely expressed.
• Sequence:

  MSIFTPTNQIRLTNVAVVRMKRAGKRFEIACYKNKVVGWRSGVEKDLDEVLQTHSVFVNVSKGQVAKKEDLISAF
  GTDDQTEICKQILTKGEVQVSDKERHTQLEQMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKTNKST
  KQQALEVIKQLKEKMKIERAHMRLRFILPVNEGKKLKEKLKPLIKVIESEDYGQQLEIVCLIDPGCFREIDELIK
  KETKGKGSLEVLNLKDVEEGDEKFE

• Structural information:
  • Interpro: IPR018978  IPR018023  IPR019783  IPR036786  IPR002140   IPR039100  IPR037188  
  • Prosite: PS01267
  • PDB: 2KDO 2L9N 5AN9 5ANB 5ANC 6QKL
  • PDBsum: 2KDO 2L9N 5AN9 5ANB 5ANC 6QKL
  • STRING: ENSP00000246868
• Other Databases: GeneCards:  SBDS  Malacards:  SBDS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043022	ribosome binding	IDA	molecular function
GO:0042256	mature ribosome assembly	IDA	biological process
GO:0000922	spindle pole	IDA	cellular component
GO:0002244	hematopoietic progenitor cell differentiation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0042256	mature ribosome assembly	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001833	inner cell mass cell proliferation	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0007052	mitotic spindle organization	IDA	biological process
GO:0019843	rRNA binding	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0030595	leukocyte chemotaxis	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0008017	microtubule binding	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:0006364	rRNA processing	IMP	biological process
GO:0048539	bone marrow development	IMP	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0030282	bone mineralization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Metaphyseal dysplasias	KEGG:H00479
Shwachman-Diamond syndrome	KEGG:H00439
Other phagocyte defects	KEGG:H00101
Metaphyseal dysplasias	KEGG:H00479
Shwachman-Diamond syndrome	KEGG:H00439
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray