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

Gene ID: 79595, updated on 5-Mar-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
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Genomic context

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Location:
2q14.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (127941222..128028059, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (128376486..128463363, complement)
105.20220307 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: 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

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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. CRL4B interacts with and coordinates the SIN3A-HDAC complex to repress CDKN1A and drive cell cycle progression. Ji Q, et al. J Cell Sci, 2014 Nov 1. PMID 25189618

See all (78) 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)

Genotypes

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
  
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_2023_10

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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