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SBDS

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GENERAL INFORMATION

Gene name

 SBDS

Gene description

 Shwachman-Bodian-Diamond syndrome

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the nucleus & cytosol.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleus (supported), Cytosol (supported)

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA028891
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the nucleus & cytosol.

Main location

 Nucleus (supported), Cytosol (supported)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA028891 A-431 Nucleus
Cytosol
HPA028891 U-2 OS Nucleus
Cytosol
HPA028891 U-251 MG Nucleus
Cytosol

GENE INFORMATION

Gene name

 SBDS (HGNC Symbol)

Synonyms

 CGI-97, FLJ10917, SDS, SWDS

Description

 Shwachman-Bodian-Diamond syndrome (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008]

Chromosome

 7

Cytoband

 q11.21

Chromosome location (bp)

 66987677 - 66995601

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000126524 (version 83.38)

Entrez gene

 51119

UniProt

 Q9Y3A5 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9Y3A5

Antibodypedia

 SBDS antibodies

PROTEIN BROWSER
SBDS-001
SBDS-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SBDS-001
ENSP00000246868
ENST00000246868
Q9Y3A5 [Direct mapping]
Ribosome maturation protein SBDS
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Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Germline Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000922 [spindle pole]
GO:0001833 [inner cell mass cell proliferation]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006364 [rRNA processing]
GO:0008017 [microtubule binding]
GO:0008283 [cell proliferation]
GO:0019843 [rRNA binding]
GO:0030282 [bone mineralization]
GO:0030595 [leukocyte chemotaxis]
GO:0042254 [ribosome biogenesis]
GO:0042256 [mature ribosome assembly]
GO:0043022 [ribosome binding]
GO:0043148 [mitotic spindle stabilization]
GO:0044822 [poly(A) RNA binding]
GO:0048539 [bone marrow development]
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 250 aa
28.8 kDa 		No 0
SBDS-201
ENSP00000483040
ENST00000617799
A0A087X020 [Direct mapping]
Ribosome maturation protein SBDS
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Germline Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0042254 [ribosome biogenesis]
Show all
 250 aa
28.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.