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 enh... See more...

Aliases for SAP18 Gene

Aliases for SAP18 Gene

  • Sin3A Associated Protein 18 2 3 5
  • 2HOR0202 2 3 4
  • Histone Deacetylase Complex Subunit SAP18 3 4
  • Cell Growth-Inhibiting Gene 38 Protein 3 4
  • 18 KDa Sin3-Associated Polypeptide 3 4
  • Sin3A-Associated Protein, 18kDa 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Histone Deacetlyase Complex Subunit SAP18 3
  • Sin3-Associated Polypeptide, 18 KDa 3
  • Cell Growth Inhibiting Protein 38 3
  • Sin3-Associated Polypeptide, P18 3
  • Sin3-Associated Polypeptide P18 4
  • MGC27131 2
  • SAP18P 3
  • SAP18p 2
  • SAP18 5

External Ids for SAP18 Gene

Previous GeneCards Identifiers for SAP18 Gene

  • GC13P019694
  • GC13P015694
  • GC13P020644
  • GC13P019512
  • GC13P020612
  • GC13P021714
  • GC13P002516

Summaries for SAP18 Gene

Entrez Gene Summary for SAP18 Gene

  • 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]

GeneCards Summary for SAP18 Gene

SAP18 (Sin3A Associated Protein 18) is a Protein Coding gene. Diseases associated with SAP18 include Mental Retardation, Autosomal Dominant 13 and Basal Cell Nevus Syndrome. Among its related pathways are Chromatin organization and Macrophage Differentiation and Growth Inhibition by METS. Gene Ontology (GO) annotations related to this gene include transcription corepressor activity.

UniProtKB/Swiss-Prot Summary for SAP18 Gene

  • Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit mRNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits the formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function.

Gene Wiki entry for SAP18 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SAP18 Gene

Genomics for SAP18 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SAP18 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J021139 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 257.7 +0.6 570 3.4 ZNF207 MYC ZNF580 ZNF592 KLF9 POLR2A BRCA1 YY1 CTCF KLF11 SAP18 DQ866754 ENSG00000252128 HSALNG0095580 HSALNG0095581 lnc-SKA3-1 MRPL57 SKA3 HSALNG0095579
GH13J021174 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 7.4 +35.8 35787 3.8 SP1 ZNF207 MYC ZNF600 IKZF1 JUND ZNF592 KLF9 POLR2A CEBPA MRPL57 SKA3 piR-61101-131 EEF1AKMT1 SAP18 MN309624 HSALNG0095579
GH13J020993 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.5 -144.2 -144222 6.2 IKZF1 NCOR1 JUND NFIC HES1 BHLHE40 ZNF341 MNT TAL1 SKIL RNU4-9P ENSG00000252128 SAP18 LATS2-AS1 SNODB272 LATS2 XPO4
GH13J021020 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.6 -118.5 -118540 3.9 CHD4 YY1 HOMEZ MAFF RXRA SAP130 RARA RBM22 CREM FOXP1 LATS2 SAP18 ENSG00000252128 HSALNG0095571 LATS2-AS1 XPO4
GH13J021032 Promoter/Enhancer 1 Ensembl ENCODE dbSUPER 11 -106.4 -106428 2.9 FEZF1 CTCF SMC3 MYC MAX RAD21 SP1 MEIS2 OSR2 HSALNG0095571 LATS2 LATS2-AS1 ENSG00000252128 SAP18 MRPL57 SKA3 CRYL1 XPO4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAP18 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAP18

Top Transcription factor binding sites by QIAGEN in the SAP18 gene promoter:
  • AhR
  • COMP1
  • FOXD3
  • GATA-1
  • HOXA5
  • SEF-1 (1)
  • SRF
  • SRF (504 AA)
  • TBP
  • TFIID

Genomic Locations for SAP18 Gene

Latest Assembly
chr13:21,140,514-21,149,085
(GRCh38/hg38)
Size:
8,572 bases
Orientation:
Plus strand

Previous Assembly
chr13:21,714,653-21,723,224
(GRCh37/hg19 by Entrez Gene)
Size:
8,572 bases
Orientation:
Plus strand

chr13:21,714,653-21,723,221
(GRCh37/hg19 by Ensembl)
Size:
8,569 bases
Orientation:
Plus strand

Genomic View for SAP18 Gene

Genes around SAP18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAP18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAP18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAP18 Gene

Proteins for SAP18 Gene

  • Protein details for SAP18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00422-SAP18_HUMAN
    Recommended name:
    Histone deacetylase complex subunit SAP18
    Protein Accession:
    O00422
    Secondary Accessions:
    • B2R494
    • Q2TTR4
    • Q6IAW9
    • Q8N606
    • Q9UF14
    • X6RAL5

    Protein attributes for SAP18 Gene

    Size:
    153 amino acids
    Molecular mass:
    17561 Da
    Quaternary structure:
    • Found in a mRNA splicing-dependent exon junction complex (EJC). Component of the heterotrimeric ASAP (apoptosis- and splicing-associated protein) and PSAP complexes consisting of RNPS1, SAP18 and either ACIN1 or PNN, respectively; the ASAP and PSAP complexes probably are formed mutually exclusive. For the ASAP complex, the association of SAP18 seems to require a preformed RNPS1:ACIN1 complex. Forms a complex with SIN3A and HDAC1. Interacts with SUFU.

    Three dimensional structures from OCA and Proteopedia for SAP18 Gene

    Alternative splice isoforms for SAP18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SAP18 Gene

Post-translational modifications for SAP18 Gene

  • Ubiquitination at Lys74 and Lys114
  • Modification sites at PhosphoSitePlus

Other Protein References for SAP18 Gene

No data available for DME Specific Peptides for SAP18 Gene

Domains & Families for SAP18 Gene

Gene Families for SAP18 Gene

Protein Domains for SAP18 Gene

InterPro:
Blocks:
  • Sin3 associated polypeptide p18

Suggested Antigen Peptide Sequences for SAP18 Gene

GenScript: Design optimal peptide antigens:
  • Sin3-associated polypeptide p18 (SAP18_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00422

UniProtKB/Swiss-Prot:

SAP18_HUMAN :
  • Belongs to the SAP18 family.
Family:
  • Belongs to the SAP18 family.
genes like me logo Genes that share domains with SAP18: view

Function for SAP18 Gene

Molecular function for SAP18 Gene

UniProtKB/Swiss-Prot Function:
Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit mRNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits the formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function.

Phenotypes From GWAS Catalog for SAP18 Gene

Gene Ontology (GO) - Molecular Function for SAP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity TAS,IBA 21873635
GO:0003723 RNA binding HDA 22681889
GO:0005515 protein binding IPI 9150135
GO:0008134 transcription factor binding IBA 21873635
genes like me logo Genes that share ontologies with SAP18: view
genes like me logo Genes that share phenotypes with SAP18: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAP18

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SAP18 Gene

Localization for SAP18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAP18 Gene

Nucleus. Cytoplasm. Nucleus speckle. Note=Shuttles between the nucleus and the cytoplasm (PubMed:16314458). Colocalizes with ACIN1 and SRSF2 in nuclear speckles (PubMed:20966198). {ECO:0000269 PubMed:16314458, ECO:0000269 PubMed:20966198}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAP18 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SAP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 histone deacetylase complex TAS 9150135
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SAP18: view

Pathways & Interactions for SAP18 Gene

genes like me logo Genes that share pathways with SAP18: view

Pathways by source for SAP18 Gene

2 GeneGo (Thomson Reuters) pathways for SAP18 Gene
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
  • Transcription Sin3 and NuRD in transcription regulation
1 Qiagen pathway for SAP18 Gene
  • DNA Methylation and Transcriptional Repression

SIGNOR curated interactions for SAP18 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SAP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IMP 22203037
GO:0006357 regulation of transcription by RNA polymerase II TAS 9150135
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0043065 positive regulation of apoptotic process IDA 12665594
genes like me logo Genes that share ontologies with SAP18: view

Drugs & Compounds for SAP18 Gene

No Compound Related Data Available

Transcripts for SAP18 Gene

mRNA/cDNA for SAP18 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAP18

Alternative Splicing Database (ASD) splice patterns (SP) for SAP18 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - -
SP2: - - -
SP3: - - - -
SP4:
SP5:

Relevant External Links for SAP18 Gene

GeneLoc Exon Structure for
SAP18

Expression for SAP18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SAP18 Gene

Protein differential expression in normal tissues from HIPED for SAP18 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.5) and Hair follicle (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SAP18 Gene



Protein tissue co-expression partners for SAP18 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SAP18

SOURCE GeneReport for Unigene cluster for SAP18 Gene:

Hs.524899

mRNA Expression by UniProt/SwissProt for SAP18 Gene:

O00422-SAP18_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SAP18 Gene

  • Nervous system(4.9)
  • Skin(4.5)
  • Liver(3.1)
  • Lung(3.1)
  • Kidney(2.8)
  • Eye(2.7)
  • Pancreas(2.7)
  • Muscle(2.5)
  • Heart(2.5)
  • Intestine(2.4)
  • Blood(2.3)
  • Thyroid gland(2.3)
genes like me logo Genes that share expression patterns with SAP18: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAP18 Gene

Orthologs for SAP18 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SAP18 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SAP18 29 30
  • 99.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sap18 16 30
  • 98 (a)
OneToMany
Gm10094 29 30
  • 90.31 (n)
OneToMany
Sap18b 16
Oppossum
(Monodelphis domestica)
Mammalia SAP18 30
  • 97 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SAP18 30
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SAP18 29 30
  • 92.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sap18 29
  • 90.89 (n)
Cow
(Bos Taurus)
Mammalia SAP18 29 30
  • 90.89 (n)
OneToOne
Chicken
(Gallus gallus)
Aves CHSAP18 30
  • 99 (a)
OneToOne
SAP18 29
  • 82.79 (n)
Lizard
(Anolis carolinensis)
Reptilia SAP18 30
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sap18 29
  • 77.34 (n)
Str.5917 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.8609 29
Zebrafish
(Danio rerio)
Actinopterygii sap18 29 30
  • 72.11 (n)
OneToOne
-- 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003036 29
  • 62.36 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Bin1 29 30 31
  • 58.28 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_C16C10.4 29
  • 58.2 (n)
C16C10.4 30 31
  • 45 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SAP18 29
  • 55.56 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0122000 29
  • 59.6 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.542 30
  • 60 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4059 29
Species where no ortholog for SAP18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SAP18 Gene

ENSEMBL:
Gene Tree for SAP18 (if available)
TreeFam:
Gene Tree for SAP18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SAP18: view image
Alliance of Genome Resources:
Additional Orthologs for SAP18

Paralogs for SAP18 Gene

Pseudogenes.org Pseudogenes for SAP18 Gene

genes like me logo Genes that share paralogs with SAP18: view

No data available for Paralogs for SAP18 Gene

Variants for SAP18 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SAP18 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SAP18 Gene

Variant ID Type Subtype PubMed ID
esv1278877 CNV deletion 17803354
nsv1037082 CNV gain 25217958
nsv1078303 OTHER inversion 25765185
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159

Variation tolerance for SAP18 Gene

Residual Variation Intolerance Score: 48.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAP18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAP18
Leiden Open Variation Database (LOVD)
SAP18

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAP18 Gene

Disorders for SAP18 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SAP18 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search SAP18 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SAP18

genes like me logo Genes that share disorders with SAP18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SAP18 Gene

Publications for SAP18 Gene

  1. Histone deacetylases and SAP18, a novel polypeptide, are components of a human Sin3 complex. (PMID: 9150135) Zhang Y … Reinberg D (Cell 1997) 2 3 4 22
  2. Structure of SAP18: a ubiquitin fold in histone deacetylase complex assembly. (PMID: 17002296) McCallum SA … Fairbrother WJ (Biochemistry 2006) 3 4 22
  3. Proteins associated with the exon junction complex also control the alternative splicing of apoptotic regulators. (PMID: 22203037) Michelle L … Chabot B (Molecular and cellular biology 2012) 3 4
  4. Human SAP18 mediates assembly of a splicing regulatory multiprotein complex via its ubiquitin-like fold. (PMID: 20966198) Singh KK … Schwerk C (RNA (New York, N.Y.) 2010) 3 4
  5. Biochemical analysis of the EJC reveals two new factors and a stable tetrameric protein core. (PMID: 16314458) Tange TØ … Moore MJ (RNA (New York, N.Y.) 2005) 3 4

Products for SAP18 Gene

Sources for SAP18 Gene