SACS (sacsin molecular chaperone)

2007-04-01 Affiliation

Identity

HGNC

SACS

LOCATION

13q12.12

LOCUSID

26278

ALIAS

ARSACS,DNAJC29,PPP1R138,SPAX6

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 26278
MIM: 604490
HGNC: 10519
Ensembl: ENSG00000151835

Variants:

dbSNP: 26278
ClinVar: 26278
TCGA: ENSG00000151835
COSMIC: SACS

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000151835	ENST00000382292	Q9NZJ4
ENSG00000151835	ENST00000402364	Q9NZJ4
ENSG00000151835	ENST00000423156	B2REB0
ENSG00000151835	ENST00000455470	H0Y6M8

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
35933016	2022	The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics.	10
36555380	2022	The J Domain of Sacsin Disrupts Intermediate Filament Assembly.	3
35933016	2022	The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics.	10
36555380	2022	The J Domain of Sacsin Disrupts Intermediate Filament Assembly.	3
33559790	2021	A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.	2
33746006	2021	Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.	4
34429451	2021	Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.	8
33559790	2021	A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.	2
33746006	2021	Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.	4
34429451	2021	Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.	8
31701440	2020	A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.	12
31701440	2020	A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.	12
30332300	2019	Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.	21
30835349	2019	[Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay].	2
30332300	2019	Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.	21

Citation

Dessen P

SACS (sacsin molecular chaperone)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47398