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SAP30 Sin3A associated protein 30 [ Homo sapiens (human) ]

Gene ID: 8819, updated on 5-Mar-2024

Summary

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Official Symbol
SAP30provided by HGNC
Official Full Name
Sin3A associated protein 30provided by HGNC
Primary source
HGNC:HGNC:10532
See related
Ensembl:ENSG00000164105 MIM:603378; AllianceGenome:HGNC:10532
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
Summary
Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 10.9), stomach (RPKM 8.8) and 25 other tissues See more
Orthologs
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Genomic context

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See SAP30 in Genome Data Viewer
Location:
4q34.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (173370954..173377532)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (176710356..176716943)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (174292105..174298683)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15808 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15809 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:174255709-174256444 Neighboring gene high mobility group box 2 Neighboring gene SAP30 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15812 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:174292649-174293212 Neighboring gene uncharacterized LOC112268474 Neighboring gene stimulator of chondrogenesis 1 Neighboring gene ribosomal protein L5 pseudogene 11

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. [Transcription Factor SAP30 Is Involved in the Activation of NETO2 Gene Expression in Clear Cell Renal Cell Carcinoma]. Snezhkina AV, et al. Mol Biol (Mosk), 2018 May-Jun. PMID 29989576
  2. RBP1 family proteins exhibit SUMOylation-dependent transcriptional repression and induce cell growth inhibition reminiscent of senescence. Binda O, et al. Mol Cell Biol, 2006 Mar. PMID 16479010, Free PMC Article
  3. Loss of heterozygosity on chromosome 4q32-35 in sporadic basal cell carcinomas: evidence for the involvement of p33ING2/ING1L and SAP30 genes. Sironi E, et al. J Cutan Pathol, 2004 Apr. PMID 15005689
  4. Targeting UHRF1-SAP30-MXD4 axis for leukemia initiating cell eradication in myeloid leukemia. Hu CL, et al. Cell Res, 2022 Dec. PMID 36302855, Free PMC Article
  5. Transcriptional regulation by HSV-1 induced HTRP via acetylation system. Chen J, et al. Virol Sin, 2010 Dec. PMID 21221920, Free PMC Article

See all (85) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Reveal the correlation between hub hypoxia/immune-related genes and immunity and diagnosis, and the effect of SAP30 on cell apoptosis, ROS and MDA production in cerebral ischemic stroke.
    Title: Reveal the correlation between hub hypoxia/immune-related genes and immunity and diagnosis, and the effect of SAP30 on cell apoptosis, ROS and MDA production in cerebral ischemic stroke.
  2. SAP30 promotes breast tumor progression by bridging the transcriptional corepressor SIN3 complex and MLL1.
    Title: SAP30 promotes breast tumor progression by bridging the transcriptional corepressor SIN3 complex and MLL1.
  3. Targeting UHRF1-SAP30-MXD4 axis for leukemia initiating cell eradication in myeloid leukemia.
    Title: Targeting UHRF1-SAP30-MXD4 axis for leukemia initiating cell eradication in myeloid leukemia.
  4. upregulation of NETO2 gene is first stipulated by the isoform 1 (NM_018092.4), and the probable mechanism of its activation is associated with the increased expression of SAP30 transcription factor.
    Title: [Transcription Factor SAP30 Is Involved in the Activation of NETO2 Gene Expression in Clear Cell Renal Cell Carcinoma].
  5. In the nucleus, SLy2 interacts with the SAP30/HDAC1 complex and regulates the activity of HDAC1.
    Title: SLy2 targets the nuclear SAP30/HDAC1 complex.
  6. findings demonstrate new functions for SAP30L and SAP30 by showing that they can associate directly with core histones as well as naked DNA
    Title: DNA-binding and -bending activities of SAP30L and SAP30 are mediated by a zinc-dependent module and monophosphoinositides.
  7. PBF binds to SAP30 and represses transcription via recruitment of the HDAC1 co-repressor complex
    Title: Papillomavirus binding factor binds to SAP30 and represses transcription via recruitment of the HDAC1 co-repressor complex.
  8. occurrence of an unusual TG 3' splice site in intron 1
    Title: Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
  9. The interaction domains between YY1 and SAP30 were mapped to the C-terminal segment of YY1 (295-414) and the C-terminal 91 amino acid region of SAP30.
    Title: Modulation of YY1 activity by SAP30.
  10. The SAP30 gene may be involved in basal cell carcinogenesis.
    Title: Loss of heterozygosity on chromosome 4q32-35 in sporadic basal cell carcinomas: evidence for the involvement of p33ING2/ING1L and SAP30 genes.
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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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription corepressor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in modulation by host of symbiont transcription IDA
Inferred from Direct Assay
more info
 PubMed 
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 IDA
Inferred from Direct Assay
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 
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of histone deacetylase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of histone deacetylase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
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 SAP30
Names
30 kDa Sin3-associated polypeptide
Sin3 corepressor complex subunit SAP30
Sin3-associated polypeptide, 30kDa
Sin3A-associated protein, 30kDa
sin3-associated polypeptide p30
sin3-associated polypeptide, 30 kDa

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_003864.4 → NP_003855.1  histone deacetylase complex subunit SAP30

    See identical proteins and their annotated locations for NP_003855.1

    Status: REVIEWED

    Source sequence(s)
    AF055993, AW236579, BC016757
    Consensus CDS
    CCDS3817.1
    UniProtKB/Swiss-Prot
    D3DP38, O75446
    Related
    ENSP00000296504.3, ENST00000296504.4
    Conserved Domains (2) summary
    pfam13866
    Location:65 → 133
    zf-SAP30; SAP30 zinc-finger
    pfam13867
    Location:153 → 205
    SAP30_Sin3_bdg; Sin3 binding region of histone deacetylase complex subunit SAP30

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    173370954..173377532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    176710356..176716943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75446.1 GenPept UniProtKB/Swiss-Prot:O75446

Gene LinkOut

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