SACS (sacsin molecular chaperone)

2007-04-01  

Identity

HGNC
SACS
LOCATION
13q12.12
LOCUSID
26278
ALIAS
ARSACS,DNAJC29,PPP1R138,SPAX6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151835ENST00000382292Q9NZJ4
ENSG00000151835ENST00000402364Q9NZJ4
ENSG00000151835ENST00000423156B2REB0
ENSG00000151835ENST00000455470H0Y6M8

Expression (GTEx)

0
5
10
15
20
25
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
184651522008ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.24
208764712010Mutations in SACS cause atypical and late-onset forms of ARSACS.21
215079542011Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).19
204881932010The sacsin repeating region (SRR): a novel Hsp90-related supra-domain associated with neurodegeneration.18
198807972009NO VEIN mediates auxin-dependent specification and patterning in the Arabidopsis embryo, shoot, and root.12
228165262013Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.12
230433542013Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.11
147187082004Identification of a SACS gene missense mutation in ARSACS.10
262889842015New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.10
147187062004A novel mutation in SACS gene in a family from southern Italy.9

Citation

Dessen P

SACS (sacsin molecular chaperone)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

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