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Sap130 Sin3A associated protein [ Mus musculus (house mouse) ]

Gene ID: 269003, updated on 21-Apr-2024

Summary

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Official Symbol
Sap130provided by MGI
Official Full Name
Sin3A associated proteinprovided by MGI
Primary source
MGI:MGI:1919782
See related
Ensembl:ENSMUSG00000024260 AllianceGenome:MGI:1919782
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
6720406D06; 2610304F09Rik
Summary
Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nuclear speck. Predicted to be part of Sin3-type complex. Used to study congenital heart disease and hypoplastic left heart syndrome. Orthologous to human SAP130 (Sin3A associated protein 130). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 32.4), thymus adult (RPKM 15.5) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
18 B1; 18 17.81 cM
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (31767436..31856121)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (31634368..31723068)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_44147 Neighboring gene predicted gene, 38606 Neighboring gene solute carrier family 25, member 46 Neighboring gene STARR-positive B cell enhancer ABC_E10982 Neighboring gene STARR-positive B cell enhancer ABC_E7574 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:31794162-31794271 Neighboring gene STARR-positive B cell enhancer ABC_E172 Neighboring gene predicted gene, 52327 Neighboring gene protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E8707 Neighboring gene AMME chromosomal region gene 1-like Neighboring gene predicted gene, 26533

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The Genetic Landscape of Hypoplastic Left Heart Syndrome. Yagi H, et al. Pediatr Cardiol, 2018 Aug. PMID 29569026, Free PMC Article
  2. SAP130 released by damaged tubule drives necroinflammation via miRNA-219c/Mincle signaling in acute kidney injury. Lv LL, et al. Cell Death Dis, 2021 Sep 23. PMID 34556635, Free PMC Article
  3. Spliceosome-Associated Protein 130 Exacerbates Alcohol-Induced Liver Injury by Inducing NLRP3 Inflammasome-Mediated IL-1β in Mice. Kim JW, et al. Am J Pathol, 2018 Apr. PMID 29355515
  4. The complex genetics of hypoplastic left heart syndrome. Liu X, et al. Nat Genet, 2017 Jul. PMID 28530678, Free PMC Article
  5. Mincle is an ITAM-coupled activating receptor that senses damaged cells. Yamasaki S, et al. Nat Immunol, 2008 Oct. PMID 18776906

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SAP130 released by ferroptosis tubular epithelial cells promotes macrophage polarization via Mincle signaling in sepsis acute kidney injury.
    Title: SAP130 released by ferroptosis tubular epithelial cells promotes macrophage polarization via Mincle signaling in sepsis acute kidney injury.
  2. SAP130 released by damaged tubule drives necroinflammation via miRNA-219c/Mincle signaling in acute kidney injury.
    Title: SAP130 released by damaged tubule drives necroinflammation via miRNA-219c/Mincle signaling in acute kidney injury.
  3. interaction between Mincle and SAP130 may promote the progression of alcoholic liver disease by IL-1beta production in Kupffer cells and consequently increase inflammatory immune cell infiltration.
    Title: Spliceosome-Associated Protein 130 Exacerbates Alcohol-Induced Liver Injury by Inducing NLRP3 Inflammasome-Mediated IL-1β in Mice.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of cell migration NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of stem cell population maintenance NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of stem cell population maintenance NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of Sin3-type complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear speck ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
histone deacetylase complex subunit SAP130
Names
130 kDa Sin3-associated polypeptide
Sin3A associated protein, 130kDa
sin3-associated polypeptide p130
NP_001344483.1
NP_001344484.1
NP_766553.1
XP_006526012.1
XP_006526014.1
XP_006526015.1
XP_006526016.1
XP_030106331.1
XP_036017054.1

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_001357554.2 → NP_001344483.1  histone deacetylase complex subunit SAP130 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC156981, AC161511
    Consensus CDS
    CCDS89207.1
    UniProtKB/Swiss-Prot
    Q6NZP5, Q6P553, Q8BID9, Q8BIH0, Q9CSU1
    UniProtKB/TrEMBL
    J3QNK5
    Related
    ENSMUSP00000157127.2, ENSMUST00000235017.2
    Conserved Domains (2) summary
    PHA03247
    Location:98 → 492
    PHA03247; large tegument protein UL36; Provisional
    pfam16014
    Location:635 → 1040
    SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

  2. NM_001357555.2 → NP_001344484.1  histone deacetylase complex subunit SAP130 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC156981, AC161511
    UniProtKB/TrEMBL
    J3QNK5
    Conserved Domains (4) summary
    PHA02732
    Location:257 → 486
    PHA02732; hypothetical protein; Provisional
    pfam15254
    Location:539 → 666
    CCDC14; Coiled-coil domain-containing protein 14
    pfam16014
    Location:654 → 1059
    SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
    cl26464
    Location:8 → 359
    Atrophin-1; Atrophin-1 family

  3. NM_172965.4 → NP_766553.1  histone deacetylase complex subunit SAP130 isoform 1

    See identical proteins and their annotated locations for NP_766553.1

    Status: VALIDATED

    Source sequence(s)
    AC156981, AC161511
    Consensus CDS
    CCDS57117.1
    UniProtKB/TrEMBL
    A0A0R4J060, J3QNK5
    Related
    ENSMUSP00000025109.8, ENSMUST00000025109.8
    Conserved Domains (1) summary
    pfam16014
    Location:634 → 1039
    SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

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_000084.7 Reference GRCm39 C57BL/6J

    Range
    31767436..31856121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006525951.4 → XP_006526014.1  histone deacetylase complex subunit SAP130 isoform X2

    See identical proteins and their annotated locations for XP_006526014.1

    UniProtKB/Swiss-Prot
    Q6NZP5, Q6P553, Q8BID9, Q8BIH0, Q9CSU1
    UniProtKB/TrEMBL
    J3QNK5
    Conserved Domains (2) summary
    PHA03247
    Location:98 → 492
    PHA03247; large tegument protein UL36; Provisional
    pfam16014
    Location:635 → 1040
    SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

  2. XM_006525949.3 → XP_006526012.1  histone deacetylase complex subunit SAP130 isoform X1

    UniProtKB/TrEMBL
    J3QNK5
    Conserved Domains (3) summary
    PHA02732
    Location:257 → 486
    PHA02732; hypothetical protein; Provisional
    PHA03247
    Location:8 → 359
    PHA03247; large tegument protein UL36; Provisional
    pfam16014
    Location:655 → 1060
    SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

  3. XM_006525953.3 → XP_006526016.1  histone deacetylase complex subunit SAP130 isoform X3

    UniProtKB/TrEMBL
    J3QNK5
    Conserved Domains (2) summary
    PHA03247
    Location:437 → 871
    PHA03247; large tegument protein UL36; Provisional
    pfam16014
    Location:655 → 1025
    SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

  4. XM_030250471.2 → XP_030106331.1  histone deacetylase complex subunit SAP130 isoform X4

    UniProtKB/TrEMBL
    J3QNK5
    Conserved Domains (4) summary
    PHA02732
    Location:257 → 486
    PHA02732; hypothetical protein; Provisional
    PHA03247
    Location:8 → 359
    PHA03247; large tegument protein UL36; Provisional
    PRK14971
    Location:581 → 706
    PRK14971; DNA polymerase III subunit gamma/tau
    pfam16014
    Location:654 → 1024
    SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

  5. XM_006525952.5 → XP_006526015.1  histone deacetylase complex subunit SAP130 isoform X2

    See identical proteins and their annotated locations for XP_006526015.1

    UniProtKB/Swiss-Prot
    Q6NZP5, Q6P553, Q8BID9, Q8BIH0, Q9CSU1
    UniProtKB/TrEMBL
    J3QNK5
    Conserved Domains (2) summary
    PHA03247
    Location:98 → 492
    PHA03247; large tegument protein UL36; Provisional
    pfam16014
    Location:635 → 1040
    SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

  6. XM_036161161.1 → XP_036017054.1  histone deacetylase complex subunit SAP130 isoform X5

    UniProtKB/TrEMBL
    J3QNK5
    Conserved Domains (2) summary
    PHA03247
    Location:34 → 471
    PHA03247; large tegument protein UL36; Provisional
    pfam16014
    Location:614 → 1019
    SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BIH0.2 GenPept UniProtKB/Swiss-Prot:Q8BIH0

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