Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: SBDS (SBDS ribosome maturation factor) Homo sapiens
Analyze
Symbol: SBDS
Name: SBDS ribosome maturation factor
Description: 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 subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CGI-97; FLJ10917; ribosome maturation protein SBDS; SBDS ribosome assembly guanine nucleotide exchange factor; SBDS, ribosome assembly guanine nucleotide exchange factor; SBDS, ribosome maturation factor; SDS; Shwachman-Bodian-Diamond syndrome; SWDS
Orthologs:
Mus musculus (house mouse) : Sbds (SBDS ribosome maturation factor)  MGI  Alliance
Rattus norvegicus (Norway rat) : Sbds (SBDS, ribosome maturation factor)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Sbds (SBDS ribosome maturation factor)
Pan paniscus (bonobo/pygmy chimpanzee) : SBDS (SBDS ribosome maturation factor)
Canis lupus familiaris (dog) : SBDS (SBDS ribosome maturation factor)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Sbds (SBDS ribosome maturation factor)
Sus scrofa (pig) : SBDS (SBDS ribosome maturation factor)
more info ...
Related Pseudogenes: SBDSP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38766,987,677 - 66,995,696 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37766,452,690 - 66,460,588 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36766,090,125 - 66,098,023 (-)NCBINCBI36hg18NCBI36
Build 34765,896,839 - 65,904,738NCBI
Celera765,655,621 - 65,663,519 (+)NCBI
Cytogenetic Map7q11.21NCBI
HuRef762,635,769 - 62,643,913 (-)NCBIHuRef
CHM1_1766,547,913 - 66,555,811 (-)NCBICHM1_1
CRA_TCAGchr7v2765,790,252 - 65,798,150 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SBDS
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1322290
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.