Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SBDS Gene

Aliases for SBDS Gene

  • SBDS Ribosome Assembly Guanine Nucleotide Exchange Factor 2 3
  • Shwachman-Bodian-Diamond Syndrome 2 3 5
  • Shwachman-Bodian-Diamond Syndrome Protein 4
  • CGI-97 3
  • SWDS 3
  • SDS 3

External Ids for SBDS Gene

Previous GeneCards Identifiers for SBDS Gene

  • GC07M065093
  • GC07M065850
  • GC07M065864
  • GC07M065896
  • GC07M066090
  • GC07M066452
  • GC07M062635

Summaries for SBDS Gene

Entrez Gene Summary for SBDS Gene

  • 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]

GeneCards Summary for SBDS Gene

SBDS (SBDS Ribosome Assembly Guanine Nucleotide Exchange Factor) is a Protein Coding gene. Diseases associated with SBDS include shwachman-diamond syndrome and aplastic anemia. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include poly(A) RNA binding and rRNA binding.

UniProtKB/Swiss-Prot for SBDS Gene

  • Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation.

Gene Wiki entry for SBDS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SBDS Gene

Genomics for SBDS Gene

Regulatory Elements for SBDS Gene

Promoters for SBDS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SBDS on UCSC Golden Path with GeneCards custom track

Genomic Location for SBDS Gene

Chromosome:
7
Start:
66,987,677 bp from pter
End:
66,995,601 bp from pter
Size:
7,925 bases
Orientation:
Minus strand

Genomic View for SBDS Gene

Genes around SBDS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SBDS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SBDS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SBDS Gene

Proteins for SBDS Gene

  • Protein details for SBDS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3A5-SBDS_HUMAN
    Recommended name:
    Ribosome maturation protein SBDS
    Protein Accession:
    Q9Y3A5
    Secondary Accessions:
    • A8K0P4
    • Q96FX0
    • Q9NV53

    Protein attributes for SBDS Gene

    Size:
    250 amino acids
    Molecular mass:
    28764 Da
    Quaternary structure:
    • Associates with the 60S ribosomal subunit. Interacts with NPM1, RPA1 and PRKDC. May interact with NIP7.

    Three dimensional structures from OCA and Proteopedia for SBDS Gene

neXtProt entry for SBDS Gene

Proteomics data for SBDS Gene at MOPED

Post-translational modifications for SBDS Gene

  • Ubiquitination at Lys 62, Lys 90, Lys 98, and Lys 159
  • Modification sites at PhosphoSitePlus

Other Protein References for SBDS Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SBDS Gene

Domains & Families for SBDS Gene

Suggested Antigen Peptide Sequences for SBDS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y3A5

UniProtKB/Swiss-Prot:

SBDS_HUMAN :
  • Belongs to the SDO1/SBDS family.
Family:
  • Belongs to the SDO1/SBDS family.
genes like me logo Genes that share domains with SBDS: view

No data available for Gene Families for SBDS Gene

Function for SBDS Gene

Molecular function for SBDS Gene

UniProtKB/Swiss-Prot Function:
Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation.

Gene Ontology (GO) - Molecular Function for SBDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019843 rRNA binding IDA 17475909
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with SBDS: view
genes like me logo Genes that share phenotypes with SBDS: view

Human Phenotype Ontology for SBDS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SBDS Gene

MGI Knock Outs for SBDS:

Animal Model Products

miRNA for SBDS Gene

miRTarBase miRNAs that target SBDS

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SBDS Gene

Localization for SBDS Gene

Subcellular locations from UniProtKB/Swiss-Prot for SBDS Gene

Cytoplasm. Nucleus, nucleolus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle. Note=Primarily detected in the cytoplasm, and at low levels in nucleus and nucleolus (PubMed:19602484 and PubMed:17475909). Detected in the nucleolus during G1 and G2 phase of the cell cycle, and diffusely distributed in the nucleus during S phase. Detected at the mitotic spindle. Colocalizes with the microtubule organizing center during interphase (PubMed:19759903). {ECO:0000269 PubMed:19759903}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SBDS Gene COMPARTMENTS Subcellular localization image for SBDS gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for SBDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15860664
genes like me logo Genes that share ontologies with SBDS: view

Pathways & Interactions for SBDS Gene

genes like me logo Genes that share pathways with SBDS: view

Pathways by source for SBDS Gene

SIGNOR curated interactions for SBDS Gene

Activates:

Gene Ontology (GO) - Biological Process for SBDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IMP 17643419
GO:0042256 mature ribosome assembly IEA,IDA 21536732
genes like me logo Genes that share ontologies with SBDS: view

Drugs & Compounds for SBDS Gene

(1) Drugs for SBDS Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with SBDS: view

Transcripts for SBDS Gene

Unigene Clusters for SBDS Gene

Shwachman-Bodian-Diamond syndrome:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SBDS Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5
SP1:
SP2: -

Relevant External Links for SBDS Gene

GeneLoc Exon Structure for
SBDS
ECgene alternative splicing isoforms for
SBDS

Expression for SBDS Gene

mRNA expression in normal human tissues for SBDS Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SBDS Gene



SOURCE GeneReport for Unigene cluster for SBDS Gene Hs.110445

mRNA Expression by UniProt/SwissProt for SBDS Gene

Q9Y3A5-SBDS_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with SBDS: view

Protein tissue co-expression partners for SBDS Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for SBDS Gene

Orthologs for SBDS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SBDS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SBDS 35
  • 92.13 (n)
  • 98.8 (a)
SBDS 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SBDS 35
  • 90.09 (n)
  • 97.99 (a)
SBDS 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SBDS 35
  • 99.6 (n)
  • 100 (a)
SBDS 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sbds 35
  • 86.67 (n)
  • 97.2 (a)
mouse
(Mus musculus)
Mammalia Sbds 16
Sbds 36
  • 97 (a)
OneToOne
Sbds 35
  • 88.27 (n)
  • 97.2 (a)
oppossum
(Monodelphis domestica)
Mammalia SBDS 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SBDS 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858362 35
  • 81.07 (n)
  • 89.2 (a)
SBDS 36
  • 89 (a)
OneToMany
SBDS 36
  • 79 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sbds 35
  • 77.33 (n)
  • 86.4 (a)
Str.16646 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.11942 35
zebrafish
(Danio rerio)
Actinopterygii zgc56700 35
sbds 36
  • 82 (a)
OneToOne
sbds 35
  • 75.61 (n)
  • 82.68 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4209 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007882 35
  • 64.11 (n)
  • 67.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8549 35
  • 60.05 (n)
  • 59.51 (a)
CG8549 36
  • 58 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sbds-1 35
  • 58.5 (n)
  • 57.14 (a)
sbds-1 36
  • 55 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL154C 35
  • 51.94 (n)
  • 43.75 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15532g 35
  • 51.53 (n)
  • 45.42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDO1 35
  • 53.36 (n)
  • 45.92 (a)
SDO1 36
  • 43 (a)
OneToOne
SDO1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G43860 35
  • 57.3 (n)
  • 51.24 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1323 35
rice
(Oryza sativa)
Liliopsida Os08g0107500 35
  • 54.22 (n)
  • 50.21 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.9185 35
corn
(Zea mays)
Liliopsida Zm.9577 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8625 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00476 35
  • 54.53 (n)
  • 49.79 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sdo1 35
  • 54.77 (n)
  • 51.04 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 67 (a)
OneToOne
Species with no ortholog for SBDS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SBDS Gene

ENSEMBL:
Gene Tree for SBDS (if available)
TreeFam:
Gene Tree for SBDS (if available)

Paralogs for SBDS Gene

Pseudogenes.org Pseudogenes for SBDS Gene

genes like me logo Genes that share paralogs with SBDS: view

No data available for Paralogs for SBDS Gene

Variants for SBDS Gene

Sequence variations from dbSNP and Humsavar for SBDS Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_015390 Shwachman-Diamond syndrome (SDS)
VAR_015391 Shwachman-Diamond syndrome (SDS)
VAR_015392 Shwachman-Diamond syndrome (SDS)
VAR_015393 Shwachman-Diamond syndrome (SDS)
VAR_015394 Shwachman-Diamond syndrome (SDS)

Structural Variations from Database of Genomic Variants (DGV) for SBDS Gene

Variant ID Type Subtype PubMed ID
essv3137 CNV CNV 17122850
dgv2091e1 CNV Complex 17122850

Variation tolerance for SBDS Gene

Residual Variation Intolerance Score: 34.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.89; 48.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SBDS Gene

HapMap Linkage Disequilibrium report
SBDS
Human Gene Mutation Database (HGMD)
SBDS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SBDS Gene

Disorders for SBDS Gene

MalaCards: The human disease database

(5) MalaCards diseases for SBDS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
shwachman-diamond syndrome
  • pancreatic insufficiency and bone marrow dysfunction
aplastic anemia
  • pulmonary fibrosis, idiopathic
inherited bone marrow failure syndromes
  • bmfs
acute cholangitis
common variable immunodeficiency
  • acquired agammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards
Search SBDS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SBDS_HUMAN
  • Shwachman-Diamond syndrome (SDS) [MIM:260400]: Autosomal recessive disorder characterized by pancreatic exocrine insufficiency, hematologic dysfunction, and skeletal abnormalities. {ECO:0000269 PubMed:12496757, ECO:0000269 PubMed:24898207}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SBDS

Genetic Association Database (GAD)
SBDS
Human Genome Epidemiology (HuGE) Navigator
SBDS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SBDS
genes like me logo Genes that share disorders with SBDS: view

No data available for Genatlas for SBDS Gene

Publications for SBDS Gene

  1. Mutations in SBDS are associated with Shwachman-Diamond syndrome. (PMID: 12496757) Boocock G.R.B. … Rommens J.M. (Nat. Genet. 2003) 2 3 4 23 67
  2. Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease. (PMID: 20015955) Vitiello S.P. … Pearce D.A. (Hum. Mol. Genet. 2010) 3 23
  3. Structure, dynamics, and RNA interaction analysis of the human SBDS protein. (PMID: 20053358) de Oliveira J.F. … Zeri A.C. (J. Mol. Biol. 2010) 3 23
  4. SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane. (PMID: 19009351) Watanabe K. … Dror Y. (Apoptosis 2009) 3 23
  5. Depletion of the Shwachman-Diamond syndrome gene product, SBDS, leads to growth inhibition and increased expression of OPG and VEGF-A. (PMID: 19014892) Nihrane A. … Liu J.M. (Blood Cells Mol. Dis. 2009) 3 23

Products for SBDS Gene

Sources for SBDS Gene

Back to Top

Content