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

Gene ID: 10284, updated on 7-Apr-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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Location:
13q12.11
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (21140119..21149097)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (20331500..20342169)
105.20220307 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
  • 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. Structure of SAP18: a ubiquitin fold in histone deacetylase complex assembly. McCallum SA, et al. Biochemistry, 2006 Oct 3. PMID 17002296
  2. An Essential Role of INI1/hSNF5 Chromatin Remodeling Protein in HIV-1 Posttranscriptional Events and Gag/Gag-Pol Stability. La Porte A, et al. J Virol, 2016 Nov 1. PMID 27558426, Free PMC Article
  3. Sin3A-associated protein, 18 kDa, a novel binding partner of TRIB1, regulates MTTP expression. Makishima S, et al. J Lipid Res, 2015 Jun. PMID 25921304, Free PMC Article
  4. Loss of Acinus inhibits oligonucleosomal DNA fragmentation but not chromatin condensation during apoptosis. Joselin AP, et al. J Biol Chem, 2006 May 5. PMID 16537548
  5. INI1/hSNF5-interaction defective HIV-1 IN mutants exhibit impaired particle morphology, reverse transcription and integration in vivo. Mathew S, et al. Retrovirology, 2013 Jun 24. PMID 23799881, Free PMC Article

See all (124) citations in PubMed

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)

Genotypes

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
  
enables transcription factor binding 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_2023_10

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

Gene LinkOut

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