Basic Information

Symbol
SBDS
RNA class
mRNA
Alias
SBDS Ribosome Maturation Factor CGI-97 SWDS SDO1 SDS SBDS, Ribosome Assembly Guanine Nucleotide Exchange Factor Ribosome Maturation Protein SBDS FLJ10917 Shwachman-Bodian-Diamond Syndrome Protein Shwachman-Bodian-Diamond Syndrome
Location (GRCh38)
7:66987680-66995693
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_016038.4
Sequence length
1613.0 nt
GC content
0.4203

Transcripts

ID Sequence Length GC content
NM_016038.4 NCBI
AGACACACUGUGACGGCUGCCUGAAGCUAGUGAGUCGCGGCGCCGCGCA… 1613 nt 0.4203
Summary

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]

Forensic Context

No relevant information is available at the moment.