SACS

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues showed moderate cytoplasmic positivity. Strong staining was observed in placental trophoblastic cells and epididymis. Squamous epithelia were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
CAB017714
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

26278

UniProt

Q9NZJ4 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NZJ4

Antibodypedia

SACS antibodies


PROTEIN BROWSER

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ENST00000382292
 
ENST00000382298
 
ENST00000402364
 
ENST00000423156
 
ENST00000455470
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SACS-001 ENSP00000371729
ENST00000382292
Q9NZJ4
Show all »
Show » Show » 4579 521.1 No 0
SACS-003 ENSP00000385844
ENST00000402364
Q9NZJ4
Show all »
Show » Show » 3829 437 No 0
SACS-004 ENSP00000406565
ENST00000455470
Show » 732 82.7 No 0
SACS-005 ENSP00000390925
ENST00000423156
B2REB0
Show all »
Show » 374 41.6 No 0
SACS-201 ENSP00000371735
ENST00000382298
Q9NZJ4
Show all »
Show » Show » 4579 521.1 No 0