Sbds SBDS ribosome maturation factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sbdsprovided by MGI
Official Full Name: SBDS ribosome maturation factorprovided by MGI
Primary source: MGI:MGI:1913961
See related: Ensembl:ENSMUSG00000025337 AllianceGenome:MGI:1913961
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SDS; CGI-97; 4733401P19Rik
Summary: This gene encodes a protein that is necessary for ribosome function and maintaining normal levels of protein synthesis. The encoded protein may function to activate ribosomes for translation, and may be involved in cellular response to stress and DNA damage. Loss of this gene is embryonic lethal while deficiency of the encoded protein in the pancreas is associated with symptoms of Shwachman-Diamond syndrome. [provided by RefSeq, Dec 2015]
Expression: Ubiquitous expression in bladder adult (RPKM 34.3), placenta adult (RPKM 26.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G1.3; 5 68.97 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (130274573..130284371, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (130245732..130255530, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SBDS Gene Mutation Increases ROS Production and Causes DNA Damage as Well as Oxidation of Mitochondrial Membranes in the Murine Myeloid Cell Line 32Dcl3.
Title: SBDS Gene Mutation Increases ROS Production and Causes DNA Damage as Well as Oxidation of Mitochondrial Membranes in the Murine Myeloid Cell Line 32Dcl3.
Inducible Sbds deletion impairs bone marrow niche capacity to engraft donor bone marrow after transplantation.
Title: Inducible Sbds deletion impairs bone marrow niche capacity to engraft donor bone marrow after transplantation.
Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes
Title: Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.
Sbds genotypes correlated with phenotypes in a mouse model of Shwachman-Diamond syndrome. Defects developed specifically in the pancreata of mice, reducing growth of mice and production of digestive enzymes.
Title: Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.
Sbds is required for osteoclastogenesis by regulating monocyte migration via Rac2 and osteoclast differentiation signaling downstream of RANK.
Title: Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis.
The majority of Shwachman-Diamond syndrome cases are results of mutations in SBDS gene on chromosone 7q11.
Title: Shwachman-Diamond syndrome presenting as hypoglycemia.
loss of Sbds is sufficient to induce abnormalities in hematopoiesis
Title: Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential.
Sbds is an essential gene for early mammalian development, with an expression pattern consistent with a critical role in cell proliferation.
Title: Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI836084 (e-PCR)
- UniSTS:179278

Sbds (e-PCR), detects polymorphism
- UniSTS:508540

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables rRNA binding	IEA Inferred from Electronic Annotation more info
enables rRNA binding	ISO Inferred from Sequence Orthology more info
enables ribosome binding	ISO Inferred from Sequence Orthology more info
enables ribosome binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in bone marrow development	IEA Inferred from Electronic Annotation more info
involved_in bone marrow development	ISO Inferred from Sequence Orthology more info
involved_in bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in cytosolic ribosome assembly	ISO Inferred from Sequence Orthology more info
involved_in cytosolic ribosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in hematopoietic progenitor cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in hematopoietic progenitor cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within inner cell mass cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in leukocyte chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in leukocyte chemotaxis	ISO Inferred from Sequence Orthology more info
involved_in mitotic spindle organization	IEA Inferred from Electronic Annotation more info
involved_in mitotic spindle organization	ISO Inferred from Sequence Orthology more info
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info
involved_in rRNA processing	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in spindle pole	ISO Inferred from Sequence Orthology more info
located_in spindle pole	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ribosome maturation protein SBDS

Names: SBDS ribosome assembly guanine nucleotide exchange factor; Shwachman-Bodian-Diamond syndrome homolog; protein 22A3; shwachman-Bodian-Diamond syndrome protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_023248.2 → NP_075737.1 ribosome maturation protein SBDS

Status: REVIEWED

Source sequence(s)

AI836084, AK014648, BY311303

Consensus CDS

CCDS19710.1

UniProtKB/Swiss-Prot

P70122, Q3TG78, Q9CR18

Related

ENSMUSP00000026387.5, ENSMUST00000026387.11

Conserved Domains (3) summary

COG1500
Location:9 → 241

Sdo1; Ribosome maturation protein Sdo1 [Translation, ribosomal structure and biogenesis]

pfam01172
Location:17 → 98

SBDS; Shwachman-Bodian-Diamond syndrome (SBDS) protein

pfam09377
Location:107 → 224

SBDS_C; SBDS protein C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

130274573..130284371 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006504490.4 → XP_006504553.1 ribosome maturation protein SBDS isoform X1

Conserved Domains (1) summary

pfam09377
Location:1 → 119

SBDS_C; SBDS protein C-terminal domain