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FLASH GENE

Symbol

SACS

contributors: mct/npt/pgu/shn - updated : 04-05-2012

HGNC name	spastic ataxia of Charlevoix-Saguenay (sacsin)
HGNC id	10519

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain hindbrain cerebellum   highly Homo sapiens   brain diencephalon amygdala       spinal cord       highly Reproductive female system uterus     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Nervous central     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Nervous Purkinje cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	eye: lens, anterior segment, optic nerve, retina

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two a head shock protein (HSP90) homology domains in the N terminal region, and a putative ubiquitin-like (UbL) domain for an interaction with the proteasome
	two leucine zippers
	a sacsin repeat region
	seven nuclear localization signals (NLS)
	three coiled-coils and one hydrophilic domain within the carboxy terminal half of the protein and a DNAJ motif at the C terminus, and an HEPN (higher eukaryotes and prokaryotes nucleotide-binding) domain that dimerizes and contains a high-affinity binding site for GTP, and also contains a protein-protein interaction J-domain, the defining feature of DnaJ/Hsp40 proteins

secondary structure

five parallel alpha-helices with a large loop of several short helical segments

HOMOLOGY

interspecies	ortholog to Sacs, Mus musculus
	ortholog to Sacs, Rattus norvegicus
	ortholog to SACS, Pan troglodytes

Homologene

FAMILY

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
text	predominantly cytoplasmic with a mitochondrial component
	associated with mitochondria and may play a role in mitochondrial quality control, as observed for other proteins associated with neurodegenerative diseases

basic FUNCTION	may be functioning in chaperone-mediated protein folding
	may integrate the ubiquitin–proteasome system and Hsp70 function to a specific cellular role
	regulator of the Hsp70 chaperone machinery that is implicated in the processing of other ataxia-linked proteins
	may act as a molecular scaffold for assembly of a specific protein complex and regulation of this complex requires integration of molecular chaperone machinery and the ubiquitin–proteasome systems (UPS)
	role for sacsin in regulation of mitochondrial dynamics

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

potential substrate of the ubiquitin ligase UBE3A responsible for Angelman syndrome

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SACS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS