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    SAP130 Sin3A associated protein 130 [ Homo sapiens (human) ]

    Gene ID: 79595, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SAP130provided by HGNC
    Official Full Name
    Sin3A associated protein 130provided by HGNC
    Primary source
    HGNC:HGNC:29813
    See related
    Ensembl:ENSG00000136715 MIM:609697; AllianceGenome:HGNC:29813
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in testis (RPKM 33.8), bone marrow (RPKM 7.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SAP130 in Genome Data Viewer
    Location:
    2q14.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (127941222..128028059, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (128376486..128463363, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (128698796..128785633, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985803 Neighboring gene uncharacterized LOC107985944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128663380-128663880 Neighboring gene archaelysin family metallopeptidase 2 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:128743539-128744039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16509 Neighboring gene UDP-glucose glycoprotein glucosyltransferase 1 Neighboring gene SRM pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 10373 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:128944162-128945361 Neighboring gene dynein light chain Tctex-type 3 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Ambiguity about Splicing Factor 3b Subunit 3 (SF3B3) and Sin3A Associated Protein 130 (SAP130). Metselaar PI, et al. Cells, 2021 Mar 8. PMID 33800128, Free PMC Article
    2. Silencing of the transforming growth factor-beta (TGFbeta) receptor II by Kruppel-like factor 14 underscores the importance of a negative feedback mechanism in TGFbeta signaling. Truty MJ, et al. J Biol Chem, 2009 Mar 6. PMID 19088080, Free PMC Article
    3. Topoisomerase IIbeta negatively modulates retinoic acid receptor alpha function: a novel mechanism of retinoic acid resistance. McNamara S, et al. Mol Cell Biol, 2008 Mar. PMID 18212063, Free PMC Article
    4. Identification and characterization of three new components of the mSin3A corepressor complex. Fleischer TC, et al. Mol Cell Biol, 2003 May. PMID 12724404, Free PMC Article
    5. c-Myc transformation domain recruits the human STAGA complex and requires TRRAP and GCN5 acetylase activity for transcription activation. Liu X, et al. J Biol Chem, 2003 May 30. PMID 12660246, Free PMC Article

    See all (87) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ambiguity about Splicing Factor 3b Subunit 3 (SF3B3) and Sin3A Associated Protein 130 (SAP130).
      Title: Ambiguity about Splicing Factor 3b Subunit 3 (SF3B3) and Sin3A Associated Protein 130 (SAP130).
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. the TGFbeta pathway activation leads to recruitment of a KLF14-mSin3A-HDAC2 repressor complex to the TGFbetaRII promoter, as well as the remodeling of chromatin to increase histone marks that associate with transcriptional silencing.
      Title: Silencing of the transforming growth factor-beta (TGFbeta) receptor II by Kruppel-like factor 14 underscores the importance of a negative feedback mechanism in TGFbeta signaling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12761

    Gene Ontology Provided by GOA

    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 
    Component Evidence Code Pubs
    part_of Sin3-type complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Sin3-type complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    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
    Sin3-associated polypeptide p130
    Sin3A associated protein 130kDa
    NP_001139400.1
    NP_001317228.1
    NP_001317229.1
    NP_001317230.1
    NP_001317231.1
    NP_001317232.1
    NP_078821.2
    XP_005263824.1
    XP_005263826.1
    XP_006712811.1
    XP_006712812.1
    XP_047301774.1
    XP_047301775.1
    XP_047301776.1
    XP_047301777.1
    XP_047301778.1
    XP_047301779.1
    XP_047301780.1
    XP_047301781.1
    XP_047301782.1
    XP_054199869.1
    XP_054199870.1
    XP_054199871.1
    XP_054199872.1
    XP_054199873.1
    XP_054199874.1
    XP_054199875.1
    XP_054199876.1
    XP_054199877.1
    XP_054199878.1
    XP_054199879.1
    XP_054199880.1
    XP_054199881.1

    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_001145928.2 → NP_001139400.1  histone deacetylase complex subunit SAP130 isoform a

      See identical proteins and their annotated locations for NP_001139400.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC118060, AK022823, AK315185, BC143898, DB509348
      Consensus CDS
      CCDS54397.1
      UniProtKB/Swiss-Prot
      Q9H0E3
      Related
      ENSP00000350333.5, ENST00000357702.9
      Conserved Domains (3) summary
      PHA03247
      Location:45 → 365
      PHA03247; large tegument protein UL36; Provisional
      PRK07764
      Location:276 → 683
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam16014
      Location:661 → 1066
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

    2. NM_001330299.2 → NP_001317228.1  histone deacetylase complex subunit SAP130 isoform c

      Status: VALIDATED

      Source sequence(s)
      AK055979, AL136833
      UniProtKB/Swiss-Prot
      Q9H0E3
      UniProtKB/TrEMBL
      Q96DP1
      Conserved Domains (2) summary
      PRK07764
      Location:250 → 656
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam16014
      Location:634 → 1039
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

    3. NM_001330300.2 → NP_001317229.1  histone deacetylase complex subunit SAP130 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC012306, AC118060
      Conserved Domains (2) summary
      pfam16014
      Location:634 → 1004
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
      cl26464
      Location:19 → 339
      Atrophin-1; Atrophin-1 family

    4. NM_001330301.2 → NP_001317230.1  histone deacetylase complex subunit SAP130 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC012306, AC118060
      Consensus CDS
      CCDS86881.1
      UniProtKB/TrEMBL
      A0A2R8YDB8
      Related
      ENSP00000494423.1, ENST00000643581.2
      Conserved Domains (2) summary
      PRK07764
      Location:250 → 657
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam16014
      Location:635 → 1040
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

    5. NM_001330302.2 → NP_001317231.1  histone deacetylase complex subunit SAP130 isoform f

      Status: VALIDATED

      Source sequence(s)
      AC012306, AC118060
      Consensus CDS
      CCDS82510.1
      UniProtKB/TrEMBL
      H7BXF5
      Related
      ENSP00000259234.6, ENST00000259234.10
      Conserved Domains (3) summary
      pfam16014
      Location:634 → 1039
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
      cl25496
      Location:230 → 513
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cl26464
      Location:19 → 339
      Atrophin-1; Atrophin-1 family

    6. NM_001330303.2 → NP_001317232.1  histone deacetylase complex subunit SAP130 isoform g

      Status: VALIDATED

      Source sequence(s)
      AC012306, AC118060
      Conserved Domains (2) summary
      pfam16014
      Location:635 → 1005
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
      cl26464
      Location:347 → 851
      Atrophin-1; Atrophin-1 family

    7. NM_024545.4 → NP_078821.2  histone deacetylase complex subunit SAP130 isoform b

      See identical proteins and their annotated locations for NP_078821.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC118060, AK315185, AL136833
      Consensus CDS
      CCDS2153.1
      UniProtKB/Swiss-Prot
      B7ZLM3, C9K0X9, Q4ZFV4, Q53T46, Q8WVW4, Q9H0E3, Q9H9G8
      Related
      ENSP00000259235.3, ENST00000259235.7
      Conserved Domains (2) summary
      PHA03247
      Location:373 → 877
      PHA03247; large tegument protein UL36; Provisional
      pfam16014
      Location:661 → 1031
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      127941222..128028059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445826.1 → XP_047301782.1  histone deacetylase complex subunit SAP130 isoform X12

    2. XM_047445825.1 → XP_047301781.1  histone deacetylase complex subunit SAP130 isoform X11

    3. XM_047445821.1 → XP_047301777.1  histone deacetylase complex subunit SAP130 isoform X7

    4. XM_047445824.1 → XP_047301780.1  histone deacetylase complex subunit SAP130 isoform X11

    5. XM_047445819.1 → XP_047301775.1  histone deacetylase complex subunit SAP130 isoform X5

    6. XM_047445820.1 → XP_047301776.1  histone deacetylase complex subunit SAP130 isoform X6

      UniProtKB/TrEMBL
      H7BXF5

    7. XM_047445823.1 → XP_047301779.1  histone deacetylase complex subunit SAP130 isoform X10

    8. XM_005263769.4 → XP_005263826.1  histone deacetylase complex subunit SAP130 isoform X4

      See identical proteins and their annotated locations for XP_005263826.1

      UniProtKB/TrEMBL
      A0A2R8YDB8
      Conserved Domains (2) summary
      PRK07764
      Location:250 → 657
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam16014
      Location:635 → 1040
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

    9. XM_047445818.1 → XP_047301774.1  histone deacetylase complex subunit SAP130 isoform X3

    10. XM_047445822.1 → XP_047301778.1  histone deacetylase complex subunit SAP130 isoform X9

    11. XM_005263767.4 → XP_005263824.1  histone deacetylase complex subunit SAP130 isoform X1

      Conserved Domains (3) summary
      PHA03247
      Location:45 → 422
      PHA03247; large tegument protein UL36; Provisional
      PRK07764
      Location:276 → 682
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam16014
      Location:660 → 1065
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

    12. XM_006712749.4 → XP_006712812.1  histone deacetylase complex subunit SAP130 isoform X8

      Conserved Domains (2) summary
      PHA03247
      Location:45 → 365
      PHA03247; large tegument protein UL36; Provisional
      pfam16014
      Location:660 → 1030
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

    13. XM_006712748.4 → XP_006712811.1  histone deacetylase complex subunit SAP130 isoform X2

      Conserved Domains (3) summary
      PHA03247
      Location:45 → 365
      PHA03247; large tegument protein UL36; Provisional
      pfam05109
      Location:256 → 539
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam16014
      Location:660 → 1065
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      128376486..128463363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343906.1 → XP_054199881.1  histone deacetylase complex subunit SAP130 isoform X12

    2. XM_054343905.1 → XP_054199880.1  histone deacetylase complex subunit SAP130 isoform X11

    3. XM_054343900.1 → XP_054199875.1  histone deacetylase complex subunit SAP130 isoform X7

    4. XM_054343904.1 → XP_054199879.1  histone deacetylase complex subunit SAP130 isoform X11

    5. XM_054343898.1 → XP_054199873.1  histone deacetylase complex subunit SAP130 isoform X5

    6. XM_054343899.1 → XP_054199874.1  histone deacetylase complex subunit SAP130 isoform X6

      UniProtKB/TrEMBL
      H7BXF5

    7. XM_054343903.1 → XP_054199878.1  histone deacetylase complex subunit SAP130 isoform X10

    8. XM_054343897.1 → XP_054199872.1  histone deacetylase complex subunit SAP130 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YDB8

    9. XM_054343896.1 → XP_054199871.1  histone deacetylase complex subunit SAP130 isoform X3

    10. XM_054343902.1 → XP_054199877.1  histone deacetylase complex subunit SAP130 isoform X9

    11. XM_054343894.1 → XP_054199869.1  histone deacetylase complex subunit SAP130 isoform X1

    12. XM_054343901.1 → XP_054199876.1  histone deacetylase complex subunit SAP130 isoform X8

    13. XM_054343895.1 → XP_054199870.1  histone deacetylase complex subunit SAP130 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0E3.1 GenPept UniProtKB/Swiss-Prot:Q9H0E3

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