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Aliases for SAP18 Gene

Aliases for SAP18 Gene

  • Sin3A Associated Protein 18 2 3 5
  • Cell Growth-Inhibiting Gene 38 Protein 3 4
  • 18 KDa Sin3-Associated Polypeptide 3 4
  • Sin3A-Associated Protein, 18kDa 2 3
  • 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
  • Sin3-Associated Polypeptide, P18 3
  • Sin3-Associated Polypeptide P18 4
  • SAP18P 3

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 Basal Cell Nevus Syndrome. Among its related pathways are Regulation of nuclear SMAD2/3 signaling and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include poly(A) RNA binding and 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

Regulatory Elements for SAP18 Gene

Enhancers for SAP18 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F020939 1.1 Ensembl ENCODE 11.3 -200.5 -200483 1.7 TFAP4 SAP130 CEBPG RARA RFX5 GTF3C2 GATA3 GATA4 ZNF157 RERE ENSG00000252128 SAP18 RNU4-9P LATS2-AS1 RPS7P10 HNRNPA1P30 LINC00367 CNOT4P1
GH13F021038 1 Ensembl ENCODE 11 -100.6 -100599 3.8 PKNOX1 TAL1 JUN GATA2 NCOR1 ETV6 NFE2 MTA2 RNF2 MAFG LATS2 LATS2-AS1 ENSG00000252128 SAP18 MRPL57 SKA3 CRYL1 GC13M021039 RNU4-9P
GH13F021022 1 Ensembl ENCODE 10.6 -117.6 -117641 2.1 SOX13 ELF3 CTCF SAP130 RAD21 RARA ZNF316 ZNF143 HNF4G CREM LATS2 ENSG00000252128 SAP18 LATS2-AS1 GC13M021039 RNU4-9P
GH13F021031 0.9 Ensembl ENCODE 11 -106.6 -106614 4.6 CTCF HLF MAX CEBPB FEZF1 NR3C1 RAD21 OSR2 ZNF316 MYC LATS2 LATS2-AS1 ENSG00000252128 SAP18 MRPL57 SKA3 CRYL1 GC13M021039 RNU4-9P
GH13F020993 0.9 ENCODE 10.5 -146.8 -146808 1.0 HDAC1 ATF1 TBL1XR1 SIN3A CHAMP1 SCRT2 FOS CREM ZBTB2 CEBPB RNU4-9P ENSG00000252128 SAP18 LATS2-AS1 RPSAP54
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SAP18 on UCSC Golden Path with GeneCards custom track

Promoters for SAP18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000054252 286 2401 HDGF ATF1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF48 BRCA1 ZNF2

Genomic Location for SAP18 Gene

Chromosome:
13
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

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

    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

Post-translational modifications for SAP18 Gene

  • Ubiquitination at Lys 74 and Lys 114
  • 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

Suggested Antigen Peptide Sequences for SAP18 Gene

GenScript: Design optimal peptide antigens:

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.

Gene Ontology (GO) - Molecular Function for SAP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity TAS 9150135
GO:0004407 histone deacetylase activity TAS --
GO:0005515 protein binding IPI 9150135
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with SAP18: view
genes like me logo Genes that share phenotypes with SAP18: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
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 IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IDA --
GO:0016607 nuclear speck IEA,IDA 20966198
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

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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, PaxDb, MaxQB, and MOPED for SAP18 Gene



Protein tissue co-expression partners for SAP18 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SAP18 Gene:

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.
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 and mRNA differential expression in normal tissues 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 34 35
  • 99.81 (n)
mouse
(Mus musculus)
Mammalia Gm10094 35
  • 98 (a)
OneToMany
Sap18 34 35
  • 90.31 (n)
Sap18b 16
oppossum
(Monodelphis domestica)
Mammalia SAP18 35
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAP18 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAP18 34 35
  • 92.64 (n)
cow
(Bos Taurus)
Mammalia SAP18 34 35
  • 90.89 (n)
rat
(Rattus norvegicus)
Mammalia RGD1561590 34
  • 90.89 (n)
chicken
(Gallus gallus)
Aves CHSAP18 35
  • 99 (a)
OneToOne
SAP18 34
  • 82.79 (n)
lizard
(Anolis carolinensis)
Reptilia SAP18 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sap18 34
  • 77.34 (n)
Str.5917 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8609 34
zebrafish
(Danio rerio)
Actinopterygii sap18 34 35
  • 72.11 (n)
-- 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003036 34
  • 62.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta Bin1 36 34 35
  • 58.28 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C16C10.4 34
  • 58.2 (n)
C16C10.4 36 35
  • 54 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SAP18 34
  • 55.56 (n)
rice
(Oryza sativa)
Liliopsida Os02g0122000 34
  • 59.6 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.542 35
  • 60 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4059 34
Species where no ortholog for SAP18 was found in the sources mined by GeneCards:
  • 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
rs1046530 -- 21,148,051(+) AAGAC(C/G)GAGGG utr-variant-3-prime
rs1046537 -- 21,148,504(+) AGTAC(C/T)AGCAG downstream-variant-500B, utr-variant-3-prime
rs111243516 -- 21,144,275(+) TGGCG(C/G)GTGCC intron-variant, upstream-variant-2KB
rs11147974 -- 21,146,729(+) ATTAA(C/G)TCATT intron-variant
rs111724228 -- 21,139,441(+) TTTTT(A/T)TTTTT upstream-variant-2KB

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

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

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)

Relevant External Links for SAP18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAP18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAP18 Gene

Disorders for SAP18 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SAP18 Gene - From: DISEASES

Disorder Aliases PubMed IDs
basal cell nevus syndrome
  • nevoid basal cell carcinoma syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SAP18 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SAP18

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 64
  2. Structure of SAP18: a ubiquitin fold in histone deacetylase complex assembly. (PMID: 17002296) McCallum S.A. … Fairbrother W.J. (Biochemistry 2006) 3 4 22 64
  3. 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 64
  4. Human SAP18 mediates assembly of a splicing regulatory multiprotein complex via its ubiquitin-like fold. (PMID: 20966198) Singh K.K. … Schwerk C. (RNA 2010) 3 4 64
  5. 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 64

Products for SAP18 Gene

Sources for SAP18 Gene

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