Sacs sacsin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sacsprovided by MGI
Official Full Name: sacsinprovided by MGI
Primary source: MGI:MGI:1354724
See related: Ensembl:ENSMUSG00000048279 AllianceGenome:MGI:1354724
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DNAJC29; A230052M14; E130115J16Rik
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. Is expressed in dorsal root ganglion; facial ganglion; glossopharyngeal ganglion; trigeminal ganglion; and vagus ganglion. Used to study Charlevoix-Saguenay spastic ataxia. 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: Broad expression in CNS E18 (RPKM 4.2), cerebellum adult (RPKM 4.2) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 D1; 14 32.13 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (61375870..61478142)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (61138421..61240693)

Chromosome 14 - NC_000080.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of SACS results in multiple alterations in the cerebellar circuit including Purkinje cell input and output and contributes to cerebellar-related disease onset in Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Title: Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.
Sacs missense mutation largely lead to loss of sacsin function.
Title: Sacs R272C missense homozygous mice develop an ataxia phenotype.
Results indicate that the Sacs-/- mouse is a well-suited rodent model of the human condition and suggest that disruption of mitochondria organization and positioning cause autosomal recessive spastic ataxia of Charlevoix-Saguenay pathology.
Title: Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sacs (e-PCR), detects polymorphism
- UniSTS:164697

AI642964 (e-PCR)
- UniSTS:180678

Gene Ontology Provided by MGI

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	ISA Inferred from Sequence Alignment more info	PubMed
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	IEA Inferred from Electronic Annotation more info
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: dnaJ homolog subfamily C member 29

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_015788.2 → NP_056603.2 sacsin isoform 1

Status: VALIDATED

Source sequence(s)

AC124555, AC138718

Consensus CDS

CCDS88683.1

UniProtKB/Swiss-Prot

Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8

UniProtKB/TrEMBL

E9QNY8

Related

ENSMUSP00000113377.2, ENSMUST00000119943.8

Conserved Domains (2) summary

smart00748
Location:4454 → 4570

HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain

cl28246
Location:4312 → 4373

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_172809.3 → NP_766397.2 sacsin isoform 2

See identical proteins and their annotated locations for NP_766397.2

Status: VALIDATED

Source sequence(s)

AK160797

Consensus CDS

CCDS27180.1

UniProtKB/TrEMBL

A0A0R4J125, B2RRL5

Related

ENSMUSP00000086816.4, ENSMUST00000089394.10

Conserved Domains (1) summary

cl00155
Location:22 → 67

UBQ; Ubiquitin-like proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

61375870..61478142

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030247882.2 → XP_030103742.1 sacsin isoform X8

UniProtKB/TrEMBL

B2RRL5

Conserved Domains (1) summary

cl28922
Location:7 → 78

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
XM_030247881.2 → XP_030103741.1 sacsin isoform X7

UniProtKB/TrEMBL

B2RRL5

Conserved Domains (1) summary

cl28922
Location:7 → 78

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
XM_006519226.2 → XP_006519289.1 sacsin isoform X1

UniProtKB/Swiss-Prot

Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8

Conserved Domains (3) summary

smart00748
Location:4463 → 4579

HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain

cl02542
Location:4334 → 4369

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, ...

cl28922
Location:7 → 78

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
XM_030247883.1 → XP_030103743.1 sacsin isoform X9

UniProtKB/TrEMBL

B2RRL5

Conserved Domains (1) summary

cl28922
Location:7 → 78

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
XM_006519227.4 → XP_006519290.1 sacsin isoform X2

UniProtKB/Swiss-Prot

Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8

Conserved Domains (3) summary

smart00748
Location:4460 → 4576

HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain

cl02542
Location:4331 → 4366

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, ...

cl28922
Location:4 → 75

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
XM_030247880.1 → XP_030103740.1 sacsin isoform X3

UniProtKB/Swiss-Prot

Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8

Conserved Domains (3) summary

smart00748
Location:4451 → 4567

HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain

cl02542
Location:4322 → 4357

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, ...

cl28922
Location:4 → 75

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
XM_006519229.4 → XP_006519292.1 sacsin isoform X5

UniProtKB/Swiss-Prot

Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8

Conserved Domains (2) summary

smart00748
Location:4250 → 4366

HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain

cl02542
Location:4121 → 4156

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_036158748.1 → XP_036014641.1 sacsin isoform X6

UniProtKB/Swiss-Prot

Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8

Conserved Domains (2) summary

smart00748
Location:4241 → 4357

HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain

cl02542
Location:4112 → 4147

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_036158747.1 → XP_036014640.1 sacsin isoform X4

UniProtKB/Swiss-Prot

Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8

Conserved Domains (2) summary

smart00748
Location:4316 → 4432

HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain

cl02542
Location:4187 → 4222

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, ...