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

    Gene ID: 8819, updated on 28-Oct-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (173370954..173377532)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (176710356..176716943)
    RS_2024_09 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 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. SAP30 promotes breast tumor progression by bridging the transcriptional corepressor SIN3 complex and MLL1. Bao L, et al. J Clin Invest, 2023 Sep 1. PMID 37655663, Free PMC Article
    2. 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. Cao Y, et al. Aging (Albany NY), 2023 Dec 27. PMID 38154101, 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. 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
    5. [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

    See all (89) 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.
    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

    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 Sin3-type complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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