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SACS
HPA
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  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • SUBCELL

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  • STRUCT & INT

  • SACS
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

SACS
Synonyms ARSACS, DKFZp686B15167, DNAJC29, KIAA0730, PPP1R138, SPAX6
Gene descriptioni

Full gene name according to HGNC.

Sacsin molecular chaperone
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 13
Cytoband q12.12
Chromosome location (bp) 23288689 - 23433763
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

15
Ensembl ENSG00000151835 (version 109)
Entrez gene 26278
HGNC HGNC:10519
UniProt Q9NZJ4 (UniProt - Evidence at protein level)
neXtProt NX_Q9NZJ4
GeneCards SACS
Antibodypedia SACS antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Chaperone
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
SACS-201
ENSP00000371729
ENST00000382292
Q9NZJ4
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutated cancer genes
Disease related genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
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:0042802 [identical 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-202
ENSP00000385844
ENST00000402364
Q9NZJ4
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutated cancer genes
Disease related genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
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:0042802 [identical 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-203
ENSP00000390925
ENST00000423156
B2REB0
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
750 aa
84 kDa
No 0
SACS-204
ENSP00000406565
ENST00000455470
H0Y6M8
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
832 aa
93.9 kDa
No 0
SACS-208
ENSP00000507735
ENST00000682547
A0A804HK18
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
92 aa
10.3 kDa
No 0
SACS-209
ENSP00000508399
ENST00000682775
A0A804HLK7
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
739 aa
83 kDa
No 0
SACS-210
ENSP00000507173
ENST00000682944
A0A804HIQ1
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
4588 aa
522.2 kDa
No 0
SACS-212
ENSP00000506739
ENST00000683210
A0A804HHS6
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
738 aa
82.8 kDa
No 0
SACS-213
ENSP00000507624
ENST00000683270
A0A804HJS2
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
2170 aa
245.6 kDa
No 0
SACS-214
ENSP00000507780
ENST00000683367
A0A804HK57
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
747 aa
83.7 kDa
No 0
SACS-215
ENSP00000508403
ENST00000683489
A0A804HLL1
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
763 aa
85.7 kDa
No 0
SACS-217
ENSP00000507223
ENST00000683680
A0A804HIU0
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
772 aa
86.8 kDa
No 0
SACS-219
ENSP00000508262
ENST00000684163
A0A804HL98
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
756 aa
84.7 kDa
No 0
SACS-222
ENSP00000507855
ENST00000684385
A0A804HKB3
[Direct mapping] Sacsin
Show all
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
830 aa
93.3 kDa
No 0
SACS-223
ENSP00000507057
ENST00000684497
A0A804HIG5
[Direct mapping] Sacsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
738 aa
82.7 kDa
No 0

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