Sbds
Gene Detail

Symbol Name ID

Sbds Shwachman-Bodian-Diamond syndrome homolog (human) MGI:1913961

Synonyms

4733401P19Rik, CGI-97

Feature Type

protein coding gene

Genetic Map

Chromosome 5

68.97 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr5:130245731-130255530 bp, - strand From VEGA annotation of GRCm38   9800 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:6438  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 2 chicken; 1 zebrafish

Gene Tree: Sbds

Human homologs

Human Homolog		SBDS, Shwachman-Bodian-Diamond syndrome
NCBI Gene ID		51119
neXtProt AC		NX_Q9Y3A5
Human Synonyms		SDS, SWDS
Human Chr (Location)		7q11.21; chr7:66452690-66460588 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SBDS

Alleles and phenotypes

All alleles(25) : Targeted(9) Gene trapped(16)
 

Mice homozygous for a null allele display embryonic lethality before somite formation and failure of gastrulation. Heterozygotes for the same allele are viable and fertile with no signs of Shwachman-Diamond syndrome related abnormalities.

 
Alleles Annotated to Human Diseases(3)   

Gene Ontology (GO) classifications

All GO classifications: (23 annotations)

Process	bone marrow development, bone mineralization, ...
Component	cytoplasm, cytoskeleton, ...
Function	microtubule binding, ribosome binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (21)    Tissues (4)   
Theiler Stages: 19, 24, 26, 28

Assay Type	Results
RNA in situ	1
RT-PCR	20

cDNA source data(87)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(88) cDNA(87) Primer pair(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000027908 (Evidence)
Ensembl Gene Model	ENSMUSG00000025337 (Evidence)
Entrez Gene	66711 (Evidence)
UniGene	280484
DFCI	TC1575006
DoTS	DT.101279430, DT.534055, DT.94269768
NIA Mouse Gene Index	U026772
Consensus CDS Project	CCDS19710.1
International Mouse Knockout Project Status	Sbds

Sequences

Length	Strain/Species
genomic	OTTMUSG00000027908	VEGA Gene Model | MGI Sequence Detail	9800	C57BL/6J
transcript	OTTMUST00000069123	VEGA | MGI Sequence Detail	1548	Not Applicable
polypeptide	OTTMUSP00000035058	VEGA | MGI Sequence Detail	250	Not Applicable

All sequences(36) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(82 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002140	Ribosome maturation protein SBDS
InterPro	IPR018023	Ribosome maturation protein SBDS, conserved site
InterPro	IPR018978	Ribosome maturation protein SBDS, C-terminal
InterPro	IPR019783	Ribosome maturation protein SBDS, N-terminal
Protein Ontology	PR:000014472	ribosome maturation protein SBDS

References

(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:189357 Tourlakis ME, et al., Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. Gastroenterology. 2012 Aug;143(2):481-92
All references(43)

Other accession IDs

MGI:2140971