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

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SACS

TISSUE

CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

GENERAL INFORMATION
Gene name	SACS
Gene description	Sacsin molecular chaperone
Protein class	Cancer-related genes Disease related genes Plasma proteins Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	5
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Mixed
HPA (cell line):	Mixed
HPA (normal tissue):	Tissue enhanced (parathyroid gland)

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Cytoplasmic expression in several tissues.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data.
Reliability score	Uncertain based on 1 antibody. CAB017714
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (unfavourable) and endometrial cancer (unfavourable).
Renal cancer p<0.001 Endometrial cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Mixed

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

CAB017714

GENE INFORMATION
Gene name	SACS (HGNC Symbol)
Synonyms	ARSACS, DKFZp686B15167, DNAJC29, KIAA0730, PPP1R138, SPAX6
Description	Sacsin molecular chaperone (HGNC Symbol)
Entrez gene summary	This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that ""the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins"" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Chromosome	13
Cytoband	q12.12
Chromosome location (bp)	23328823 - 23433728
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000151835 (version 83.38)
Entrez gene	26278
UniProt	Q9NZJ4 (UniProt - Evidence at protein level)
neXtProt	NX_Q9NZJ4
Antibodypedia	SACS antibodies

PROTEIN BROWSER

SACS-001	SACS-003	SACS-004	SACS-005	SACS-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SACS-001 ENSP00000371729 ENST00000382292	Q9NZJ4 [Direct mapping] Sacsin Show all	Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0006457 [protein folding] GO:0030424 [axon] GO:0030425 [dendrite] GO:0030544 [Hsp70 protein binding] GO:0051087 [chaperone binding] GO:0070628 [proteasome binding] GO:0070852 [cell body fiber] GO:0090084 [negative regulation of inclusion body assembly] Show all	4579 aa 521.1 kDa	No	0
SACS-003 ENSP00000385844 ENST00000402364	Q9NZJ4 [Direct mapping] Sacsin Show all	Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0006457 [protein folding] GO:0030424 [axon] GO:0030425 [dendrite] GO:0030544 [Hsp70 protein binding] GO:0051087 [chaperone binding] GO:0070628 [proteasome binding] GO:0070852 [cell body fiber] GO:0090084 [negative regulation of inclusion body assembly] Show all	3829 aa 437 kDa	No	0
SACS-004 ENSP00000406565 ENST00000455470	H0Y6M8 [Direct mapping] Sacsin Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Protein evidence (Ezkurdia et al 2014) Show all		732 aa 82.7 kDa	No	0
SACS-005 ENSP00000390925 ENST00000423156	B2REB0 [Direct mapping] Sacsin Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Protein evidence (Ezkurdia et al 2014) Show all		374 aa 41.6 kDa	No	0
SACS-201 ENSP00000371735 ENST00000382298	Q9NZJ4 [Direct mapping] Sacsin Show all	Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0006457 [protein folding] GO:0030424 [axon] GO:0030425 [dendrite] GO:0030544 [Hsp70 protein binding] GO:0051087 [chaperone binding] GO:0070628 [proteasome binding] GO:0070852 [cell body fiber] GO:0090084 [negative regulation of inclusion body assembly] Show all	4579 aa 521.1 kDa	No	0

Contact

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The Project

The Human Protein Atlas

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