SACS
HPA
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  • SACS
ISOFORM
Isoform resource
Isoform methods
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
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
Number of transcriptsi

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

15
HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Tissue specificity HPA (aggregated)i

The aggregated tissue specificity category corresponds to the combined unique specificity categories of all individual isoforms for the gene, based on HPA RNA-seq data

Read more
Enhanced, enriched, low specificity
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Non-specific - Basic cellular processes (mainly)
Expression category (HPA)i

The expression category reflects the overall expression pattern for the gene based on expression profiles for all individual isoforms.

Read more
Some expressed
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Low tissue specificity
TRANSCRIPT OVERVIEW
RNA ISOFORM EXPRESSION (HPA)
Expression
Predicted location
Organ
Expression
Alphabetical
Expression: some expressed
Specificity: enhanced;enriched;low specificity
RNA ISOFORM EXPRESSION (GTEx)
Expression
Predicted location
Organ
Expression
Alphabetical
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 Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
SACS-201 Q9NZJ4
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
4579 aa
521.1 kDa
No 0
SACS-202 Q9NZJ4
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
3829 aa
437 kDa
No 0
SACS-203 B2REB0
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
750 aa
84 kDa
No 0
SACS-204 H0Y6M8
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
832 aa
93.9 kDa
No 0
SACS-208 A0A804HK18
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
92 aa
10.3 kDa
No 0
SACS-209 A0A804HLK7
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
739 aa
83 kDa
No 0
SACS-210 A0A804HIQ1
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
4588 aa
522.2 kDa
No 0
SACS-212 A0A804HHS6
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
738 aa
82.8 kDa
No 0
SACS-213 A0A804HJS2
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
2170 aa
245.6 kDa
No 0
SACS-214 A0A804HK57
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
747 aa
83.7 kDa
No 0
SACS-215 A0A804HLL1
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
763 aa
85.7 kDa
No 0
SACS-217 A0A804HIU0
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
772 aa
86.8 kDa
No 0
SACS-219 A0A804HL98
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
756 aa
84.7 kDa
No 0
SACS-222 A0A804HKB3
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
830 aa
93.3 kDa
No 0
SACS-223 A0A804HIG5
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
738 aa
82.7 kDa
No 0
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