Gene

sbds

ID

ZDB-GENE-040426-1116

Name

SBDS ribosome maturation factor

Symbol

sbds Nomenclature History

Previous Names

zgc:56700 (1)

Type

protein_coding_gene

Location

Chr: 15 Mapping Details/Browsers

Description

Acts upstream of or within several processes, including cytosolic ribosome assembly; exocrine pancreas development; and granulocyte differentiation. Predicted to be located in cytoplasm; nuclear lumen; and spindle. Is expressed in gut; liver; pancreas; and pharyngeal arch 3-7. Used to study Shwachman-Diamond syndrome. Human ortholog(s) of this gene implicated in Shwachman-Diamond syndrome and aplastic anemia. Orthologous to human SBDS (SBDS ribosome maturation factor).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7141500 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 12 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With sbds Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
aplastic anemia	Alliance	{Aplastic anemia, susceptibility to}	609135
Shwachman-Diamond syndrome	Alliance	Shwachman-Diamond syndrome 1	260400

Associated With sbds Via Experimental Models

Human Disease	Fish	Conditions	Citations
Shwachman-Diamond syndrome	AB/TU + MO3-sbds	standard conditions	Venkatasubramani et al., 2008
Shwachman-Diamond syndrome	AB/TU + MO2-sbds	standard conditions	Venkatasubramani et al., 2008
Shwachman-Diamond syndrome	jh1Tg; jh2Tg + MO4-sbds	standard conditions	Provost et al., 2012
Shwachman-Diamond syndrome	AB/TU + MO1-sbds	standard conditions	Venkatasubramani et al., 2008

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR018023	Ribosome maturation protein SBDS, conserved site
Domain	IPR018978	Ribosome maturation protein SDO1/SBDS, central domain
Domain	IPR019783	Ribosome maturation protein SDO1/SBDS, N-terminal
Domain	IPR046928	Ribosome maturation protein SDO1/SBDS, C-terminal domain
Family	IPR002140	Ribosome maturation protein Sdo1/SBDS
Family	IPR039100	Ribosome maturation protein Sdo1/SBDS-like
Homologous_superfamily	IPR036786	Ribosome maturation protein SBDS, N-terminal domain superfamily
Homologous_superfamily	IPR037188	Ribosome maturation protein Sdo1/SBDS, central domain superfamily