Sacs sacsin molecular chaperone [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Sacsprovided by RGD
Official Full Name: sacsin molecular chaperoneprovided by RGD
Primary source: RGD:1307281
See related: EnsemblRapid:ENSRNOG00000014509 AllianceGenome:RGD:1307281
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD1305416
Summary: Predicted to enable several functions, including Hsp70 protein binding activity; low-density lipoprotein particle receptor binding activity; and proteasome binding activity. Predicted to be involved in negative regulation of inclusion body assembly. Predicted to be located in mitochondrion and nucleus. Human ortholog(s) of this gene implicated in Charlevoix-Saguenay spastic ataxia. Orthologous to human SACS (sacsin molecular chaperone). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Brain (RPKM 282.0), Heart (RPKM 256.1) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 15p12

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	15	NC_086033.1 (39461853..39546419)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	15	NC_051350.1 (35285783..35370335)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	15	NC_005114.4 (41448078..41530412)

Chromosome 15 - NC_086033.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments.
Title: Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments.
The large number of SACS mutations present even in Quebec suggests that the size of the gene alone may explain the great genotypic diversity. This study does not support an expanding ARSACS phenotype in the French-Canadian population.
Title: Diversity of ARSACS mutations in French-Canadians.
Sacsin is a regulator of the Hsp70 chaperone machinery.
Title: The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15Hmgc1 (e-PCR)
- UniSTS:261392

AW524447 (e-PCR)
- UniSTS:244584

RH142830 (e-PCR)
- UniSTS:232077

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables Hsp70 protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Hsp70 protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables low-density lipoprotein particle receptor binding	ISO Inferred from Sequence Orthology more info
enables proteasome binding	ISO Inferred from Sequence Orthology more info
enables protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of inclusion body assembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sacsin

Names: spastic ataxia of Charlevoix-Saguenay (sacsin)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001427721.1 → NP_001414650.1 sacsin

Status: VALIDATED

Source sequence(s)

JAXUCZ010000015

Related

ENSRNOP00000095721.2, ENSRNOT00000113056.2

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086033.1 Reference GRCr8

Range

39461853..39546419

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006252167.5 → XP_006252229.1 sacsin isoform X1

See identical proteins and their annotated locations for XP_006252229.1

UniProtKB/TrEMBL

D4A1D3

Related

ENSRNOP00000019551.5, ENSRNOT00000019551.8

Conserved Domains (2) summary

smart00748
Location:4462 → 4578

HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain

cl02542
Location:4333 → 4371

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
XM_063274276.1 → XP_063130346.1 sacsin isoform X7
XM_063274275.1 → XP_063130345.1 sacsin isoform X6
XM_063274277.1 → XP_063130347.1 sacsin isoform X8
XM_063274278.1 → XP_063130348.1 sacsin isoform X9
XM_063274272.1 → XP_063130342.1 sacsin isoform X2

UniProtKB/TrEMBL

A0A8I6ATI0

Related

ENSRNOP00000103011.1, ENSRNOT00000168656.1
XM_063274273.1 → XP_063130343.1 sacsin isoform X3

UniProtKB/TrEMBL

A0A8I6B374

Related

ENSRNOP00000095452.2, ENSRNOT00000098951.2
XM_063274274.1 → XP_063130344.1 sacsin isoform X4
XM_039093905.2 → XP_038949833.1 sacsin isoform X5

UniProtKB/TrEMBL

A6K6B1

Conserved Domains (2) summary

smart00748
Location:3702 → 3818

HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain

cl02542
Location:3573 → 3608

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...