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    SAP18 Sin3A associated protein 18 [ Homo sapiens (human) ]

    Gene ID: 10284, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SAP18provided by HGNC
    Official Full Name
    Sin3A associated protein 18provided by HGNC
    Primary source
    HGNC:HGNC:10530
    See related
    Ensembl:ENSG00000150459 MIM:602949; AllianceGenome:HGNC:10530
    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
    Also known as
    SAP18P; 2HOR0202
    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, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 50.6), brain (RPKM 39.3) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See SAP18 in Genome Data Viewer
    Location:
    13q12.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (21140119..21149097)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (20331500..20342169)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (21714258..21723236)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene inositol 1,3,4,5,6-pentakisphosphate 2-kinase pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7429 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:21687639-21688526 Neighboring gene NANOG hESC enhancer GRCh37_chr13:21704143-21704651 Neighboring gene small nucleolar RNA SNORD27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7432 Neighboring gene spindle and kinetochore associated complex subunit 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:21748764-21749486 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:21750209-21750931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7433 Neighboring gene mitochondrial ribosomal protein L57

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional role of SAP18 protein: From transcriptional repression to splicing regulation.
      Title: Functional role of SAP18 protein: From transcriptional repression to splicing regulation.
    2. These studies indicated that SAP18 expression enhanced the recruitment of mSin3A in coordination with TRIB1 to MTTP regulatory elements and increased MTTP expression.
      Title: Sin3A-associated protein, 18 kDa, a novel binding partner of TRIB1, regulates MTTP expression.
    3. A novel function of SAP18 in splicing regulation.
      Title: Human SAP18 mediates assembly of a splicing regulatory multiprotein complex via its ubiquitin-like fold.
    4. study indicates HIV-1 integrase & INI1/hSNF5 bind SAP18 & recruit components of Sin3a-HDAC1 complex into HIV-1 virions; HIV-1 virion-associated HDAC1 is required for efficient early post-entry events, indicating novel role for HDAC1 in HIV-1 replication
      Title: Recruitment of a SAP18-HDAC1 complex into HIV-1 virions and its requirement for viral replication.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag HIV-1 Gag/Gag-Pol is stabilized for particle release by endogenous SMARCB1 (INI1)-SAP18 interaction PubMed
    Tat tat SAP18 (Sin3A-associated protein, 18kDa) enhances HIV-1 Tat transactivation activity in HEK293 cells PubMed
    tat The SIN3/HDAC complex, composed of SIN3A, SAP30, SAP18, HDAC-1 AND -2 and RbAp46/48 except SAP30, are identified to interact with HIV-1 Tat in Jurkat cell PubMed
    integrase gag-pol HIV-1 IN mutant Q137R is defective for the binding to SAP18 PubMed
    gag-pol HIV-1 IN and INI1/hSNF5 bind SAP18 and selectively recruit components of Sin3a-HDAC1 complex into HIV-1 virions. HIV-1 virion-associated HDAC1 is required for efficient early post-entry events PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • MGC27131

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of ASAP complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    part_of exon-exon junction complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of histone deacetylase complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck 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
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    histone deacetylase complex subunit SAP18
    Names
    18 kDa Sin3-associated polypeptide
    Sin3A-associated protein, 18kDa
    cell growth inhibiting protein 38
    cell growth-inhibiting gene 38 protein
    epididymis secretory sperm binding protein
    histone deacetlyase complex subunit SAP18
    sin3-associated polypeptide, 18 kDa
    sin3-associated polypeptide, p18

    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_001366643.2 → NP_001353572.1  histone deacetylase complex subunit SAP18 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL158032
      Conserved Domains (1) summary
      pfam06487
      Location:77 → 152
      SAP18; Sin3 associated polypeptide p18 (SAP18)

    2. NM_005870.5 → NP_005861.2  histone deacetylase complex subunit SAP18 isoform 1

      See identical proteins and their annotated locations for NP_005861.2

      Status: REVIEWED

      Source sequence(s)
      AL158032
      Consensus CDS
      CCDS9295.2
      UniProtKB/Swiss-Prot
      O00422
      UniProtKB/TrEMBL
      X6RAL5
      Related
      ENSP00000371973.4, ENST00000382533.9
      Conserved Domains (1) summary
      pfam06487
      Location:38 → 156
      SAP18; Sin3 associated polypeptide p18 (SAP18)

    RNA

    1. NR_172492.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL158032

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      21140119..21149097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      20331500..20342169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374002.1 → XP_054229977.1  histone deacetylase complex subunit SAP18 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00422.1 GenPept UniProtKB/Swiss-Prot:O00422

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