Homo sapiens Gene: SBDS
Summary
InnateDB Gene IDBG-18886.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SBDS
Gene Name Shwachman-Bodian-Diamond syndrome
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000126524
Encoded Proteins
Shwachman-Bodian-Diamond syndrome
Shwachman-Bodian-Diamond syndrome
Shwachman-Bodian-Diamond syndrome
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:66987677-66995601
Strand Reverse strand
Band q11.21
Transcripts
ENST00000246868 ENSP00000246868
ENST00000414306 ENSP00000394586
ENST00000490953
ENST00000463579
ENST00000617799 ENSP00000483040
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
Experimentally validated
Total 35 [view]
Protein-Protein 35 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0019843 rRNA binding
GO:0043022 ribosome binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0001833 inner cell mass cell proliferation
GO:0006364 rRNA processing
GO:0008283 cell proliferation
GO:0030282 bone mineralization
GO:0030595 leukocyte chemotaxis
GO:0042254 ribosome biogenesis
GO:0042256 mature ribosome assembly
GO:0042273 ribosomal large subunit biogenesis
GO:0043148 mitotic spindle stabilization
GO:0048539 bone marrow development
Cellular Component
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.110445 Hs.585053
RefSeq NM_016038
HUGO
OMIM
CCDS CCDS5537
HPRD 07393
IMGT
EMBL
GenPept
RNA Seq Atlas