Expression of SBDS in cancer - Summary - The Human Protein Atlas

CANCER ATLAS

Gene description

Shwachman-Bodian-Diamond syndrome

Protein class

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

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA028891

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 Show all	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] Show all	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