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    Sacs sacsin [ Mus musculus (house mouse) ]

    Gene ID: 50720, updated on 9-Dec-2024

    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, Dec 2024]
    Expression
    Broad expression in CNS E18 (RPKM 4.2), cerebellum adult (RPKM 4.2) and 18 other tissues See more
    Orthologs
    NEW
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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
    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_000080.7Genomic Context describing neighboring genes Neighboring gene tumor necrosis factor receptor superfamily, member 19 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:61665054-61665237 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:61675420-61675649 Neighboring gene predicted gene, 41167 Neighboring gene predicted gene, 41168 Neighboring gene STARR-positive B cell enhancer ABC_E8562 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)
    • Endonuclease-mediated (6) 
    • Targeted (3)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    Preferred Names
    sacsin
    Names
    dnaJ homolog subfamily C member 29

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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/Swiss-Prot
      Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8
      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/TrEMBL
      A0A0R4J125, B2RRL5
      Related
      ENSMUSP00000086816.4, ENSMUST00000089394.10
      Conserved Domains (1) summary
      cl00155
      Location:2267
      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

    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

      UniProtKB/TrEMBL
      B2RRL5
      Conserved Domains (1) summary
      cl28922
      Location:778
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
    2. XM_030247881.2XP_030103741.1  sacsin isoform X7

      UniProtKB/TrEMBL
      B2RRL5
      Conserved Domains (1) summary
      cl28922
      Location:778
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
    3. XM_006519226.2XP_006519289.1  sacsin isoform X1

      UniProtKB/Swiss-Prot
      Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8
      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

      UniProtKB/TrEMBL
      B2RRL5
      Conserved Domains (1) summary
      cl28922
      Location:778
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
    5. XM_006519227.4XP_006519290.1  sacsin isoform X2

      UniProtKB/Swiss-Prot
      Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8
      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

      UniProtKB/Swiss-Prot
      Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8
      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

      UniProtKB/Swiss-Prot
      Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8
      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

      UniProtKB/Swiss-Prot
      Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8
      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

      UniProtKB/Swiss-Prot
      Q3TUF2, Q6A007, Q8BQT3, Q8C764, Q8CAJ4, Q9JLC8
      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, ...