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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SAP18 Gene

protein-coding GIFtS: 59
GCID: GC13P021714

Sin3A-associated protein, 18kDa

(Previous names: sin3A-associated protein, 18kDa )

Explore 6 diseases affiliated with
SAP18 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Sin3A-Associated Protein, 18kDa¹ ²		SAP18P²
2HOR0202¹ ² ³		Cell Growth Inhibiting Protein 38²
Cell Growth-Inhibiting Gene 38 Protein² ³		Cell Growth-Inhibiting Protein 38²
Sin3-Associated Polypeptide P18² ³		Histone Deacetlyase Complex Subunit SAP18²
18 KDa Sin3-Associated Polypeptide² ³		Histone Deacetylase Complex Subunit SAP18²
MGC27131¹		Sin3-Associated Polypeptide, 18 KDa²
SAP18p¹		Sin3-Associated Polypeptide, P18²

External Ids:	HGNC: 10530¹	Entrez Gene: 10284²	Ensembl: ENSG00000150459⁷	OMIM: 602949⁵	UniProtKB: O00422³

Export aliases for SAP18 gene to outside databases

Previous GC identifers: GC13P019694 GC13P015694 GC13P020644 GC13P019512 GC13P020612 GC13P002516

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SAP18:

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)

UniProtKB/Swiss-Prot: SAP18_HUMAN, O00422

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

Gene Wiki entry for SAP18

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000013.10 NC_018924.1 NT_024524.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SAP18 gene promoter:
AhR SRF TBP SRF (504 AA) FOXD3 GATA-1 TFIID HOXA5 COMP1 SEF-1 (1)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SAP18 promoter sequence

Search SABiosciences Chromatin IP Primers for SAP18

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAP18

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12.11 Ensembl cytogenetic band: 13q12.11 HGNC cytogenetic band: 13q12.11

SAP18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAP18 gene location

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13P021714: view genomic region (about GC identifiers)

Start:	21,714,653 bp from pter	End:	21,723,224 bp from pter
Size:	8,572 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SAP18_HUMAN, O00422 (See protein sequence)

Recommended Name: Histone deacetylase complex subunit SAP18

Size: 153 amino acids; 17561 Da

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

Subcellular location: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm

1 PDB 3D structure from and Proteopedia for SAP18:

2HDE (3D)

Secondary accessions: B2R494 Q2TTR4 Q6IAW9 Q8N606 Q9UF14

Explore the universe of human proteins at neXtProt for SAP18: NX_O00422

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O00422

SAP18 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005861.2

ENSEMBL proteins:

ENSP00000371973 ENSP00000391846

Human Recombinant Protein Products:

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	Novus Biologicals SAP18 Proteins Novus Biologicals SAP18 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for SAP18
	Uscn Proteins for SAP18

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000118	histone deacetylase complex	TAS	9150135
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	IDA	--

SAP18 for ontologies About GeneDecksing

SAP18 Antibody Products:

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Assay Products for SAP18:

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	Uscn ELISAs and CLIAs for SAP18

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SAP18 for domains About GeneDecksing

2 InterPro domains/families:

IPR010516 SAP18

IPR017250 Hist_deAcase_cplx_SAP18

Graphical View of Domain Structure for InterPro Entry O00422

ProtoNet protein and cluster: O00422

1 Blocks protein family: IPB010516 Sin3 associated polypeptide p18

UniProtKB/Swiss-Prot: SAP18_HUMAN, O00422

Similarity: Belongs to the SAP18 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SAP18_HUMAN, O00422

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

miRNA Products:		OriGene 3'-UTR Clone: SAP18 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAP18
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate SAP18 (see all 11):
		hsa-miR-4328 hsa-miR-586 hsa-miR-578 hsa-miR-1279 hsa-miR-3158-3p hsa-miR-3154 hsa-miR-466 hsa-miR-494

		SwitchGear 3'UTR luciferase reporter plasmid: SAP18 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SAP18 (see all 7) OriGene shRNA RFP: SAP18 OriGene siRNA: SAP18
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAP18

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SAP18

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SAP18 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SAP18 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SAP18 (NM_005870)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAP18
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAP18

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SAP18
		Search LifeMap BioReagents cell lines for SAP18

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAP18

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003714	transcription corepressor activity	TAS	9150135
GO:0005515	protein binding	IPI	9150135

SAP18 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Transcription_Sin3 and NuRD in transcription regulation

Transcription_Sin3 and NuRD in transcription regulation

1.00

Transcription Sin3 and NuRD in transcription regulation

0.96

HIV Infection

Transcription Ligand-Dependent Transcription of Retinoid-Target genes

0.28

Transcription_Ligand-Dependent Transcription of Retinoid-Target genes

0.28

Hedgehog Signaling Pathway

Hedgehog Signaling Pathway

1.00

Signaling events mediated by HDAC Class I

Signaling events mediated by HDAC Class I

1.00

Regulation of Telomerase

Regulation of Telomerase

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for SAP18

	Transcription Sin3 and NuRD in transcription regulation
	Transcription Ligand-Dependent Transcription of Retinoid-Target genes

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SAP18

DNA Methylation and Transcriptional Repression

2 GeneGo (Thomson Reuters) Pathways for SAP18

	Transcription Sin3 and NuRD in transcription regulation
	Transcription Ligand-Dependent Transcription of Retinoid-Target genes

5 BioSystems Pathways for SAP18

	Hedgehog Signaling Pathway
	Hedgehog signaling events mediated by Gli proteins
	Regulation of Telomerase
	Signaling events mediated by HDAC Class I
	Regulation of nuclear SMAD2/3 signaling

2 Kegg Pathways (Kegg details for SAP18):

	RNA transport
	mRNA surveillance pathway

SAP18 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SAP18

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/123 Interacting proteins for SAP18 (O00422^{1, 2, 3} ENSP00000371973⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 123)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RBM39	Q14498²^,³, ENSP00000253363⁴	MINT-8335341 I2D: score=1 STRING: ENSP00000253363
TADA3	O75528²^,³	MINT-63206 I2D: score=5
HIST2H3A	Q71DI3³	I2D: score=1
HIST2H3C	Q71DI3³	I2D: score=1
HIST2H3D	Q71DI3³	I2D: score=1

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	9150135

SAP18 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SAP18
Search CenterWatch for drugs/clinical trials and news about SAP18

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SAP18 gene:

NM_005870.4

Unigene Cluster for SAP18:

Sin3A-associated protein, 18kDa

Hs.524899 [show with all ESTs]

Unigene Representative Sequence: AK126385

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000382533(uc001uns.3) ENST00000498110 ENST00000485646 ENST00000492245

ENST00000450573 ENST00000467636 ENST00000471009

miRNA Products:		OriGene 3'-UTR Clone: SAP18 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAP18
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate SAP18 (see all 11):
		hsa-miR-4328 hsa-miR-586 hsa-miR-578 hsa-miR-1279 hsa-miR-3158-3p hsa-miR-3154 hsa-miR-466 hsa-miR-494

		SwitchGear 3'UTR luciferase reporter plasmid: SAP18 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SAP18 (see all 7) OriGene shRNA RFP: SAP18 OriGene siRNA: SAP18
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAP18

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SAP18 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SAP18 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SAP18 (NM_005870)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAP18
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAP18

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SAP18 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SAP18
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SAP18
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAP18

Additional cDNA sequence:

AF153608.1 AK126385.1 AK311748.1 AY550970.1 BC030836.1 CR457035.1 DQ866754.1 U78303.1

U96915.1

24/28 DOTS entries (see all 28):

DT.100858998 DT.100858990 DT.92452976 DT.100858993 DT.100039100 DT.91707316 DT.100039099 DT.75174980

DT.120783842 DT.100858987 DT.102824798 DT.97790728 DT.100769059 DT.100858986 DT.100858997 DT.120784024

DT.120784125 DT.92064862 DT.97860042 DT.100759574 DT.100858999 DT.120783902 DT.120784107 DT.86840475

24/586 AceView cDNA sequences (see all 586):

CA943389 CR624098 BQ212031 BP347105 CD237476 CR622577 AA906897 CD366272

CR623915 BQ682202 BU146799 AI140729 BI496770 AA025348 AA346556 BE857035

BM543417 AA300677 CB114120 CB113987 CB154066 AI973131 R99577 AA129492

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for SAP18 About this scheme

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

ECgene alternative splicing isoforms for SAP18

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SAP18 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGACCATATT

About this image
See SAP18 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SAP18

SOURCE GeneReport for Unigene cluster: Hs.524899

UniProtKB/Swiss-Prot: SAP18_HUMAN, O00422

Tissue specificity: Ubiquitous

SABiosciences Custom PCR Arrays for SAP18

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SAP18 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SAP18
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAP18

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAP18

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SAP18 gene from 9/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sap18^{1 , 5}	Sin3-associated polypeptide 18^{1, 5}	90.31(n)¹ 97.67(a)¹		14 (30.51 cM)⁵ 20220¹ NM_009119.3¹ NP_033145.2¹ 57798180⁵
chicken (Gallus gallus)	Aves	SAP18¹	Sin3A-associated protein, 18kDa	82.79(n) 98.69(a)		374206 NM_204312.1 NP_989643.1
lizard (Anolis carolinensis)	Reptilia	SAP18⁶	--	95(a)	1 ↔ 1	3(187765115-187770004)
African clawed frog (Xenopus laevis)	Amphibia	Xl.8609²	Xenopus laevis transcribed sequence with strong similarity more	76.77(n)		BJ071584.1
zebrafish (Danio rerio)	Actinopterygii	BC059482.1²	--	75.68(n)		393693 BC059482.1
fruit fly (Drosophila melanogaster)	Insecta	Bin1^{1 , 3}	negative regulation of transcription from Pol more³ Bicoid interacting protein 1¹	57(a)³ 58.28(n)¹ 59.18(a)¹		89B12³ 41965¹ NM_079653.2¹ NP_524377.1¹
worm (Caenorhabditis elegans)	Secernentea	C16C10.4³ CELE_C16C10.4¹	Protein C16C10.4¹	54(a)³ 58.13(n)¹ 56(a)¹		III(4243139-4243864)³ 175534¹ NM_065432.3¹ NP_497833.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	SAP18¹	histone deacetylase complex subunit SAP18	55.56(n) 54.26(a)		819172 NM_130126.3 NP_566050.1
rice (Oryza sativa)	Liliopsida	Os02g0122000¹	hypothetical protein	59.6(n) 59.32(a)		4328127 NM_001052258.1 NP_001045723.1

ENSEMBL Gene Tree for SAP18 (if available)
TreeFam Gene Tree for SAP18 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SAP18 gene

SAP18 for paralogs About GeneDecksing

4 Pseudogenes.org Pseudogenes for SAP18
PGOHUM00000237469 PGOHUM00000241036 PGOHUM00000259819 PGOHUM00000260083

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 13 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs139166520^1,2		--	21712666(+)	`TCTTTG/TAGTAT`	1	--	us2k¹		0	--	--	--	--
rs113542788^1,2		--	21712708(+)	`CATACA/CGTAAA`	1	--	us2k¹		2		CSA WA	120
rs78649360^1,2	F,	--	21712806(+)	`TGCTTT/CATAGT`	1	--	us2k¹		1		WA	118
rs181510178^1,2		--	21712808(+)	`CTTTAC/TAGTAT`	1	--	us2k¹		0	--	--	--	--
rs78933907^1,2	F,	--	21712826(+)	`TTGATT/GGGTAG`	1	--	us2k¹		1		WA	118
rs76697786^1,2		--	21712839(+)	`TTATTG/TCTGTC`	1	--	us2k¹		2		CSA WA	120
rs114553902^1,2	F,	--	21712874(+)	`GTCCTA/CCTGTT`	1	--	us2k¹		1		WA	118
rs143138733^1,2		--	21712922(+)	`TGAACA/GATATA`	1	--	us2k¹		0	--	--	--	--
rs147452680^1,2		--	21712926(+)	`CAATAC/TAGCTA`	1	--	us2k¹		0	--	--	--	--
rs61950331^1,2	C,F,	--	21712984(+)	`TAGGGT/CAAGTA`	1	--	us2k¹		6		NA CSA EA	248

HapMap Linkage Disequilibrium report for SAP18 (21714653 - 21723224 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SAP18
1 Indel: 25209

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SAP18

DNA2.0 Custom Variant and Variant Library Synthesis for SAP18

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SAP18 for disorders           About GeneDecksing

OMIM gene information: 602949    OMIM disorders: --

6 diseases for SAP18:    About MalaCards

rubinstein-taybi syndrome pallister-hall syndrome nevoid basal cell carcinoma syndrome basal cell carcinoma

malaria carcinoma

1 disease from the University of Copenhagen DISEASES database for SAP18:

Pallister-Hall syndrome

Export disorders for SAP18 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SAP18 gene, integrated from 9 sources (see all 43):
(articles sorted by number of sources associating them with SAP18)

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Histone deacetylases and SAP18, a novel polypeptide, are components of a human Sin3 complex. (PubMed id 9150135)^{1, 2, 3, 9} Zhang Y.... Reinberg D. (1997)
The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)^{1, 2} Dunham A.... Ross M.T. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Structure of SAP18: a ubiquitin fold in histone deacetylase complex assembly. (PubMed id 17002296)^{1, 9} McCallum S.A....Fairbrother W.J. (2006)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)¹ Lin Y.Y....Boeke J.D. (2012)
Targeted ubiquitination and degradation of G-protein-c oupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PubMed id 22952844)¹ Wu Z....Ma L. (2012)
The structure of the ASAP core complex reveals the exi stence of a Pinin-containing PSAP complex. (PubMed id 22388736)¹ Murachelli A.G....Conti E. (2012)
An important role for CDK2 in G1 to S checkpoint activation and DNA damage response in human embryonic stem cells. (PubMed id 21319273)¹ Neganova I....Lako M. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 10284	HGNC: 10530	AceView: SAP18	Ensembl:ENSG00000150459	euGenes: HUgn10284
ECgene: SAP18	Kegg: 10284	H-InvDB: SAP18

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SAP18	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for SAP18	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for SAP18 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SAP18 gene:
Search GeneIP for patents involving SAP18

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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SAP18 Gene

Sin3A-associated protein, 18kDa

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SAP18 Gene

Sin3A-associated protein, 18kDa

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