SBDS SBDS ribosome maturation factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: SBDSprovided by HGNC
Official Full Name: SBDS ribosome maturation factorprovided by HGNC
Primary source: HGNC:HGNC:19440
See related: Ensembl:ENSG00000126524 MIM:607444; AllianceGenome:HGNC:19440
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SDS; SDO1; SWDS; CGI-97
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]
Expression: Ubiquitous expression in heart (RPKM 89.6), fat (RPKM 75.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (66987680..66995586, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (68207353..68215259, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (66452667..66460573, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth.
Title: Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth.
M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression.
Title: M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression.
A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.
Title: A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.
SBDS interacts with RNF2 and is degraded through RNF2-dependent ubiquitination.
Title: SBDS interacts with RNF2 and is degraded through RNF2-dependent ubiquitination.
Somatic genetic rescue of a germline ribosome assembly defect.
Title: Somatic genetic rescue of a germline ribosome assembly defect.
Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.
Title: Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.
Dual regulation of p53 by the ribosome maturation factor SBDS.
Title: Dual regulation of p53 by the ribosome maturation factor SBDS.
Shwachman-Bodian-Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia.
Title: Shwachman-Bodian-Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia.
SBDS is a telomere-protecting protein that participates in regulating telomerase recruitment.
Title: Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment.
SBDS protein expression in various types of bone marrow cell is restored by ataluren, a small molecule which suppresses nonsense mutations.
Title: Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Aplastic anemia MedGen: C0002874 OMIM: 609135 GeneReviews: Not available	not available
Shwachman syndrome MedGen: C0272170 GeneReviews: Shwachman-Diamond Syndrome	not available
Shwachman-Diamond syndrome 1 MedGen: C4692625 OMIM: 260400 GeneReviews: Shwachman-Diamond Syndrome, Pancreatitis Overview	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18371 (e-PCR)
- UniSTS:88623

D8S1491 (e-PCR)
- UniSTS:2146

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

D7S2749 (e-PCR)
- UniSTS:77293

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables rRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables ribosome binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in bone marrow development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytosolic ribosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in hematopoietic progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner cell mass cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in leukocyte chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic spindle organization	IDA Inferred from Direct Assay more info	PubMed
involved_in rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ribosome maturation protein SBDS

Names: SBDS, ribosome assembly guanine nucleotide exchange factor

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.