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Sacs sacsin [ Mus musculus (house mouse) ]

Gene ID: 50720, updated on 13-Dec-2022

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; chaperone binding activity; and low-density lipoprotein particle receptor 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, Apr 2022]
Expression
Broad expression in CNS E18 (RPKM 4.2), cerebellum adult (RPKM 4.2) and 18 other tissues See more
Orthologs
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Genomic context

See Sacs in Genome Data Viewer
Location:
14 D1; 14 32.13 cM
Exon count:
15
Annotation release Status Assembly Chr Location
109 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_000080.7Genomic Context describing neighboring genes Neighboring gene tumor necrosis factor receptor superfamily, member 19 Neighboring gene predicted gene, 41167 Neighboring gene predicted gene, 41168 Neighboring gene sarcoglycan, gamma (dystrophin-associated glycoprotein) Neighboring gene predicted gene, 17778 Neighboring gene eukaryotic translation initiation factor 3, subunit E pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (6) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0730

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables Hsp70 protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables Hsp70 protein binding ISO
Inferred from Sequence Orthology
more info
 
enables chaperone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables chaperone 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
 
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

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)

  1. NM_015788.2NP_056603.2  sacsin isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC124555, AC138718
    Consensus CDS
    CCDS88683.1
    UniProtKB/TrEMBL
    E9QNY8
    Related
    ENSMUSP00000113377.2, ENSMUST00000119943.8
    Conserved Domains (2) summary
    smart00748
    Location:44544570
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
    cl28246
    Location:43124373
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  2. NM_172809.3NP_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/Swiss-Prot
    Q9JLC8
    UniProtKB/TrEMBL
    A0A0R4J125
    Related
    ENSMUSP00000086816.4, ENSMUST00000089394.10
    Conserved Domains (1) summary
    cl00155
    Location:2267
    UBQ; Ubiquitin-like proteins

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    61375870..61478142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030247882.2XP_030103742.1  sacsin isoform X8

    Conserved Domains (1) summary
    cl28922
    Location:778
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  2. XM_030247881.2XP_030103741.1  sacsin isoform X7

    Conserved Domains (1) summary
    cl28922
    Location:778
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  3. XM_006519226.2XP_006519289.1  sacsin isoform X1

    Conserved Domains (3) summary
    smart00748
    Location:44634579
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
    cl02542
    Location:43344369
    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:778
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  4. XM_030247883.1XP_030103743.1  sacsin isoform X9

    Conserved Domains (1) summary
    cl28922
    Location:778
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  5. XM_006519227.4XP_006519290.1  sacsin isoform X2

    Conserved Domains (3) summary
    smart00748
    Location:44604576
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
    cl02542
    Location:43314366
    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:475
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  6. XM_030247880.1XP_030103740.1  sacsin isoform X3

    Conserved Domains (3) summary
    smart00748
    Location:44514567
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
    cl02542
    Location:43224357
    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:475
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  7. XM_006519229.4XP_006519292.1  sacsin isoform X5

    Conserved Domains (2) summary
    smart00748
    Location:42504366
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
    cl02542
    Location:41214156
    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, ...
  8. XM_036158748.1XP_036014641.1  sacsin isoform X6

    Conserved Domains (2) summary
    smart00748
    Location:42414357
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
    cl02542
    Location:41124147
    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, ...
  9. XM_036158747.1XP_036014640.1  sacsin isoform X4

    Conserved Domains (2) summary
    smart00748
    Location:43164432
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
    cl02542
    Location:41874222
    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, ...