Human Gene SAP18 (ENST00000382533.9_7) from GENCODE V47lift37
  Description: Sin3A associated protein 18, transcript variant 3 (from RefSeq NR_172492.1)
Gencode Transcript: ENST00000382533.9_7
Gencode Gene: ENSG00000150459.13_14
Transcript (Including UTRs)
   Position: hg19 chr13:21,714,258-21,723,236 Size: 8,979 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr13:21,714,692-21,721,481 Size: 6,790 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:21,714,258-21,723,236)mRNA (may differ from genome)Protein (172 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsHGNCMGI
PubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SAP18_HUMAN
DESCRIPTION: RecName: Full=Histone deacetylase complex subunit SAP18; AltName: Full=18 kDa Sin3-associated polypeptide; AltName: Full=2HOR0202; AltName: Full=Cell growth-inhibiting gene 38 protein; AltName: Full=Sin3-associated polypeptide p18;
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. Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism.
SUBUNIT: Found in a mRNA splicing-dependent exon junction complex (EJC), at least composed of ACIN1, CASC3, EIF4A3, MAGOH, PNN, RBM8A, RNPS1, SAP18 and ALYREF/THOC4. Found in a heterotrimeric complex with ACIN1, RNPS1 and SAP18. Forms a complex with SIN3A and HDAC1.
INTERACTION: Q13547:HDAC1; NbExp=2; IntAct=EBI-1044156, EBI-301834;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm.
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the SAP18 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 84.93 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 1741.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -155.70434-0.359 Picture PostScript Text
3' UTR -446.201755-0.254 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017250 - Hist_deAcase_cplx_SAP18
IPR010516 - SAP18

Pfam Domains:
PF06487 - Sin3 associated polypeptide p18 (SAP18)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2HDE - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O00422
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003714 transcription corepressor activity
GO:0003723 RNA binding
GO:0004407 histone deacetylase activity
GO:0005515 protein binding

Biological Process:
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0016575 histone deacetylation
GO:0043065 positive regulation of apoptotic process
GO:0048025 negative regulation of mRNA splicing, via spliceosome
GO:1903507 negative regulation of nucleic acid-templated transcription

Cellular Component:
GO:0000118 histone deacetylase complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016604 nuclear body
GO:0016607 nuclear speck
GO:0061574 ASAP complex
GO:0035145 exon-exon junction complex


-  Descriptions from all associated GenBank mRNAs
  BC030836 - Homo sapiens Sin3A-associated protein, 18kDa, mRNA (cDNA clone MGC:27131 IMAGE:4794888), complete cds.
AF153608 - Homo sapiens sin3 associated polypeptide (SAP18) mRNA, complete cds.
U78303 - Human 2HOR0202 mRNA, complete cds.
AL360135 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1256164.
AK311748 - Homo sapiens cDNA, FLJ92007, Homo sapiens sin3-associated polypeptide, 18kDa (SAP18), mRNA.
AY550970 - Homo sapiens cell growth inhibiting protein 38 mRNA, complete cds.
U96915 - Homo sapiens sin3 associated polypeptide p18 (SAP18) mRNA, complete cds.
CU689040 - Synthetic construct Homo sapiens gateway clone IMAGE:100020122 5' read SAP18 mRNA.
AB464207 - Synthetic construct DNA, clone: pF1KB8109, Homo sapiens SAP18 gene for Sin3A-associated protein, 18kDa, without stop codon, in Flexi system.
EU446760 - Synthetic construct Homo sapiens clone IMAGE:100070031; IMAGE:100011969; FLH257400.01L Sin3A-associated protein, 18kDa (SAP18) gene, encodes complete protein.
KJ902083 - Synthetic construct Homo sapiens clone ccsbBroadEn_11477 SAP18 gene, encodes complete protein.
CR457035 - Homo sapiens full open reading frame cDNA clone RZPDo834B0415D for gene SAP18, sin3-associated polypeptide, 18kDa; complete cds, incl. stopcodon.
GQ891287 - Homo sapiens clone HEL-S-10a epididymis secretory sperm binding protein mRNA, complete cds.
AK126385 - Homo sapiens cDNA FLJ44421 fis, clone UTERU2002547, highly similar to Homo sapiens sin3-associated polypeptide, 18kDa (SAP18).
JD355229 - Sequence 336253 from Patent EP1572962.
JD540884 - Sequence 521908 from Patent EP1572962.
JD101044 - Sequence 82068 from Patent EP1572962.
JD368812 - Sequence 349836 from Patent EP1572962.
JD544736 - Sequence 525760 from Patent EP1572962.
JD157920 - Sequence 138944 from Patent EP1572962.
JD361713 - Sequence 342737 from Patent EP1572962.
JD446841 - Sequence 427865 from Patent EP1572962.
JD267762 - Sequence 248786 from Patent EP1572962.
JD057712 - Sequence 38736 from Patent EP1572962.
JD491410 - Sequence 472434 from Patent EP1572962.
JD519955 - Sequence 500979 from Patent EP1572962.
JD186231 - Sequence 167255 from Patent EP1572962.
JD507755 - Sequence 488779 from Patent EP1572962.
JD527299 - Sequence 508323 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O00422 (Reactome details) participates in the following event(s):

R-HSA-427409 Nucleolar Remodelling Complex (NoRC) binds intergenic region of rDNA
R-HSA-5227490 NoRC:HDAC:DNMT methylates cytosine of the rRNA genes
R-HSA-3769447 HDAC1/2 containing-complexes deacetylate histones
R-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-5250941 Negative epigenetic regulation of rRNA expression
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-74160 Gene expression (Transcription)
R-HSA-3214815 HDACs deacetylate histones
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: B2R494, ENST00000382533.1, ENST00000382533.2, ENST00000382533.3, ENST00000382533.4, ENST00000382533.5, ENST00000382533.6, ENST00000382533.7, ENST00000382533.8, GIG38, NR_172492, O00422, Q2TTR4, Q6IAW9, Q8N606, Q9UF14, SAP18_HUMAN, uc318qwz.1, uc318qwz.2, X6RAL5
UCSC ID: ENST00000382533.9_7
RefSeq Accession: NM_005870.5
Protein: O00422 (aka SAP18_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.