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SACS sacsin molecular chaperone [ Homo sapiens (human) ]

Gene ID: 26278, updated on 19-Sep-2024

Summary

Official Symbol
SACSprovided by HGNC
Official Full Name
sacsin molecular chaperoneprovided by HGNC
Primary source
HGNC:HGNC:10519
See related
Ensembl:ENSG00000151835 MIM:604490; AllianceGenome:HGNC:10519
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPAX6; ARSACS; DNAJC29; PPP1R138
Summary
This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Expression
Ubiquitous expression in brain (RPKM 7.1), appendix (RPKM 2.8) and 23 other tissues See more
Orthologs
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Genomic context

See SACS in Genome Data Viewer
Location:
13q12.12
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (23328830..23433702, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (22535642..22640549, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (23902969..24007841, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene sarcoglycan gamma Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7449 Neighboring gene SDA1 domain containing 1 pseudogene 4 Neighboring gene uncharacterized LOC107984585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7451 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7454 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 13 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:24007093-24007660 Neighboring gene SACS antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24014794-24015294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24015295-24015795 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:24022765-24023604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7455 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7456 Neighboring gene long intergenic non-protein coding RNA 327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24066632-24067132 Neighboring gene uncharacterized LOC124903135 Neighboring gene NANOG hESC enhancer GRCh37_chr13:24081975-24082502 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:24100455-24101050

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Charlevoix-Saguenay spastic ataxia
MedGen: C1849140 OMIM: 270550 GeneReviews: Hereditary Ataxia Overview, ARSACS
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
EBI GWAS Catalog
Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
EBI GWAS Catalog
Novel associations for hypothyroidism include known autoimmune risk loci.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp686B15167

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Hsp70 protein binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables Hsp70 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables low-density lipoprotein particle receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables proteasome binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-folding chaperone binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in negative regulation of inclusion body assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein folding NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in axon TAS
Traceable Author Statement
more info
PubMed 
located_in cell body fiber TAS
Traceable Author Statement
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in dendrite TAS
Traceable Author Statement
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
sacsin
Names
dnaJ homolog subfamily C member 29
protein phosphatase 1, regulatory subunit 138
spastic ataxia of Charlevoix-Saguenay (sacsin)

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.

Genomic

  1. NG_012342.1 RefSeqGene

    Range
    5001..109873
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278055.2NP_001264984.1  sacsin isoform 2

    See identical proteins and their annotated locations for NP_001264984.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR, lacks a segment of the 5' coding region and initiates translation at an in-frame downstream start codon, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1 at the N-terminus.
    Source sequence(s)
    AK125458, AL157766, DB309987
    Conserved Domains (2) summary
    smart00748
    Location:43044420
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
    cl02542
    Location:41754213
    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, ...
  2. NM_014363.6NP_055178.3  sacsin isoform 1

    See identical proteins and their annotated locations for NP_055178.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK125458, AL157766, AW295072, AW296712, DB213398, DB309987
    Consensus CDS
    CCDS9300.2
    UniProtKB/Swiss-Prot
    O94835, Q5T9J5, Q5T9J7, Q5T9J8, Q68DF5, Q6MZR4, Q8NBF9, Q9NZJ4
    Related
    ENSP00000371729.3, ENST00000382292.9
    Conserved Domains (3) summary
    cd01769
    Location:1960
    UBL; Ubiquitin-like domain of UBL
    smart00748
    Location:44514567
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
    cl02542
    Location:43224360
    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, ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    23328830..23433702 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430261.1XP_047286217.1  sacsin isoform X10

  2. XM_047430257.1XP_047286213.1  sacsin isoform X7

  3. XM_005266338.3XP_005266395.1  sacsin isoform X2

    UniProtKB/TrEMBL
    A0A804HIQ1
    Related
    ENSP00000507173.1, ENST00000682944.1
    Conserved Domains (3) summary
    cd01769
    Location:1960
    UBL; Ubiquitin-like domain of UBL
    smart00748
    Location:44604576
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
    cl28246
    Location:43184379
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  4. XM_047430262.1XP_047286218.1  sacsin isoform X10

  5. XM_047430258.1XP_047286214.1  sacsin isoform X7

  6. XM_047430256.1XP_047286212.1  sacsin isoform X5

    UniProtKB/Swiss-Prot
    O94835, Q5T9J5, Q5T9J7, Q5T9J8, Q68DF5, Q6MZR4, Q8NBF9, Q9NZJ4
  7. XM_024449337.2XP_024305105.1  sacsin isoform X2

    UniProtKB/TrEMBL
    A0A804HIQ1
    Conserved Domains (3) summary
    cd01769
    Location:1960
    UBL; Ubiquitin-like domain of UBL
    smart00748
    Location:44604576
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
    cl28246
    Location:43184379
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  8. XM_047430259.1XP_047286215.1  sacsin isoform X8

  9. XM_047430255.1XP_047286211.1  sacsin isoform X3

  10. XM_047430254.1XP_047286210.1  sacsin isoform X1

  11. XM_047430263.1XP_047286219.1  sacsin isoform X11

  12. XM_047430260.1XP_047286216.1  sacsin isoform X9

  13. XM_017020539.2XP_016876028.1  sacsin isoform X6

  14. XM_011535039.3XP_011533341.1  sacsin isoform X4

    Conserved Domains (3) summary
    cd01769
    Location:1657
    UBL; Ubiquitin-like domain of UBL
    smart00748
    Location:44574573
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
    cl02542
    Location:43284366
    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, ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    22535642..22640549 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374430.1XP_054230405.1  sacsin isoform X5

    UniProtKB/Swiss-Prot
    O94835, Q5T9J5, Q5T9J7, Q5T9J8, Q68DF5, Q6MZR4, Q8NBF9, Q9NZJ4
  2. XM_054374437.1XP_054230412.1  sacsin isoform X10

  3. XM_054374433.1XP_054230408.1  sacsin isoform X7

  4. XM_054374427.1XP_054230402.1  sacsin isoform X2

    UniProtKB/TrEMBL
    A0A804HIQ1
  5. XM_054374436.1XP_054230411.1  sacsin isoform X10

  6. XM_054374432.1XP_054230407.1  sacsin isoform X7

  7. XM_054374426.1XP_054230401.1  sacsin isoform X2

    UniProtKB/TrEMBL
    A0A804HIQ1
  8. XM_054374431.1XP_054230406.1  sacsin isoform X6

  9. XM_054374429.1XP_054230404.1  sacsin isoform X4

  10. XM_054374428.1XP_054230403.1  sacsin isoform X3

  11. XM_054374438.1XP_054230413.1  sacsin isoform X11

  12. XM_054374435.1XP_054230410.1  sacsin isoform X9

  13. XM_054374425.1XP_054230400.1  sacsin isoform X1

  14. XM_054374434.1XP_054230409.1  sacsin isoform X8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152752.1: Suppressed sequence

    Description
    NM_152752.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.