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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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