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Aliases for SAP18 Gene

Aliases for SAP18 Gene

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

External Ids for SAP18 Gene

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, 18kDa) is a Protein Coding gene. Diseases associated with SAP18 include pallister-hall syndrome. Among its related pathways are Development NOTCH1-mediated pathway for NF-KB activity modulation and Regulation of nuclear SMAD2/3 signaling. GO annotations related to this gene include transcription corepressor activity.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAP18 Gene

Genomics for SAP18 Gene

Genomic Location for SAP18 Gene

Start:
21,140,514 bp from pter
End:
21,149,085 bp from pter
Size:
8,572 bases
Orientation:
Plus strand

Genomic View for SAP18 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SAP18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAP18 Gene

Regulatory Elements 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

    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

neXtProt entry for SAP18 Gene

Proteomics data for SAP18 Gene at MOPED

Post-translational modifications for SAP18 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys74 and Lys114

Other Protein References for SAP18 Gene

No data available for DME Specific Peptides for SAP18 Gene

Domains for SAP18 Gene

Protein Domains for SAP18 Gene

UniProtKB/Swiss-Prot:

SAP18_HUMAN
Family:
  • Belongs to the SAP18 family.:
    • O00422
genes like me logo Genes that share domains with SAP18: view

No data available for Gene Families for SAP18 Gene

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.

Gene Ontology (GO) - Molecular Function for SAP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity TAS 9150135
GO:0005515 protein binding IPI 22365833
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with SAP18: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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. Colocalizes with ACIN1 and SRSF2 in nuclear speckles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SAP18 Gene COMPARTMENTS Subcellular localization image for SAP18 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 2
mitochondrion 1

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 --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0016607 nuclear speck IDA 20966198
genes like me logo Genes that share ontologies with SAP18: view

Pathways for SAP18 Gene

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

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:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 9150135
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with SAP18: view

Transcripts for SAP18 Gene

Unigene Clusters for SAP18 Gene

Sin3A-associated protein, 18kDa:
Representative Sequences:

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
ECgene alternative splicing isoforms for
SAP18

Expression for SAP18 Gene

mRNA expression in normal human tissues for SAP18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SAP18 Gene

SOURCE GeneReport for Unigene cluster for SAP18 Gene Hs.524899

mRNA Expression by UniProt/SwissProt for SAP18 Gene

O00422-SAP18_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with SAP18: view

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 36
  • 99.81 (n)
  • 99.42 (a)
SAP18 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SAP18 36
  • 90.89 (n)
  • 98.26 (a)
SAP18 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAP18 36
  • 92.64 (n)
  • 98.84 (a)
SAP18 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm10094 37
  • 98 (a)
OneToMany
Sap18 36
  • 90.31 (n)
  • 97.67 (a)
Sap18 16
Sap18 37
  • 98 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SAP18 37
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAP18 37
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1561590 36
  • 90.89 (n)
  • 97.67 (a)
chicken
(Gallus gallus)
Aves CHSAP18 37
  • 99 (a)
OneToOne
SAP18 36
  • 82.79 (n)
  • 98.69 (a)
lizard
(Anolis carolinensis)
Reptilia SAP18 37
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8609 36
tropical clawed frog
(Silurana tropicalis)
Amphibia sap18 36
  • 77.34 (n)
  • 94.77 (a)
Str.5917 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
sap18 36
  • 72.11 (n)
  • 90.2 (a)
sap18 37
  • 90 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003036 36
  • 62.36 (n)
  • 63.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta Bin1 36
  • 58.28 (n)
  • 59.18 (a)
Bin1 37
  • 52 (a)
OneToOne
Bin1 38
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea C16C10.4 37
  • 45 (a)
OneToOne
CELE_C16C10.4 36
  • 58.2 (n)
  • 55.56 (a)
C16C10.4 38
  • 54 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SAP18 36
  • 55.56 (n)
  • 55.04 (a)
rice
(Oryza sativa)
Liliopsida Os02g0122000 36
  • 59.6 (n)
  • 59.32 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4059 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.542 37
  • 60 (a)
OneToOne
Species with no ortholog for SAP18:
  • A. gosspyii yeast (Ashbya 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)

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

Sequence variations from dbSNP and Humsavar for SAP18 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs4620 -- 21,146,817(+) GCAAC(C/T)TTGAA reference, synonymous-codon
rs927911 -- 21,149,142(-) AATTC(C/T)AAAAT downstream-variant-500B
rs1046530 -- 21,148,051(+) AAGAC(C/G)GAGGG utr-variant-3-prime
rs1046537 -- 21,148,504(+) AGTAC(C/T)AGCAG utr-variant-3-prime
rs1804867 -- 21,147,311(+) GGCAC(C/T)ACCTC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv899878 CNV Gain 21882294
esv1278877 CNV Deletion 17803354

Relevant External Links for SAP18 Gene

HapMap Linkage Disequilibrium report
SAP18

Disorders for SAP18 Gene

(1) MalaCards Diseases for SAP18 Gene

Search for SAP18 Gene in MalaCards »

(1) University of Copenhagen DISEASES for SAP18 Gene

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

No data available for UniProtKB/Swiss-Prot 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 23
  2. Structure of SAP18: a ubiquitin fold in histone deacetylase complex assembly. (PMID: 17002296) McCallum S.A. … Fairbrother W.J. (Biochemistry 2006) 3 4 23
  3. ASAP, a novel protein complex involved in RNA processing and apoptosis. (PMID: 12665594) Schwerk C. … Reinberg D. (Mol. Cell. Biol. 2003) 3 4
  4. Biochemical analysis of the EJC reveals two new factors and a stable tetrameric protein core. (PMID: 16314458) Tange T.O. … Moore M.J. (RNA 2005) 3 4
  5. Proteins associated with the exon junction complex also control the alternative splicing of apoptotic regulators. (PMID: 22203037) Michelle L. … Chabot B. (Mol. Cell. Biol. 2012) 3 4

Products for SAP18 Gene

Sources for SAP18 Gene

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