SAP18 - Sin3A associated protein 18 Gene

Homo sapiens

Also known as SAP18P; 2HOR0202

Gene ID: 10284 | Gene type: protein coding

About SAP18

Cytogenetic location: 13q12.11 Genomic coordinates (GRCh38): 13:21,140,119-21,149,097 (from NCBI)

This gene has 8 transcripts (splice variants) and 226 orthologues. Ubiquitous expression in kidney (RPKM 50.6), brain (RPKM 39.3) and 25 other tissues.

Summary

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]

SAP18 Products(2)

mRNA	Protein	Name
NM_001366643.2	NP_001353572.1	histone deacetylase complex subunit SAP18 isoform 2
NM_005870.5	NP_005861.2	histone deacetylase complex subunit SAP18 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9150135	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	12665594	GOA
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	12665594	GOA
involved in regulation of alternative mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	20966198	GOA
involved in regulation of alternative mRNA splicing, via spliceosome	IMP IMP: Inferred from mutant phenotype	22203037	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of ASAP complex	IDA IDA: Inferred from direct assay	12665594	GOA
part of exon-exon junction complex	IDA IDA: Inferred from direct assay	16314458	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	20966198	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SAP18 Protein Structure

SAP18

0
100
153 a.a.

Protein Preferred Names

Protein Names

histone deacetylase complex subunit SAP18

18 kDa Sin3-associated polypeptide

SAP18 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SAP18	O00422	HDAC1	Homo sapiens	Q13547	Pull Down	9150135
Intra	SAP18	O00422	HDAC1	Homo sapiens	Q13547	Anti Tag CoIP	9150135
Intra	SAP18	O00422	RBM39	Homo sapiens	Q14498	Y2H	22365833
Intra	SAP18	O00422	RBM39	Homo sapiens	Q14498	Y2H Prey Pooling	25416956
Intra	SAP18	O00422	RBM39	Homo sapiens	Q14498	Y2H Array	25416956
Intra	SAP18	O00422	RBM39	Homo sapiens	Q14498	Anti Tag CoIP	33961781
Intra	SAP18	O00422	RBM39	Homo sapiens	Q14498	Validated Y2H	32296183
Intra	SAP18	O00422	INCA1	Homo sapiens	Q0VD86	Validated Y2H	25416956
Intra	SAP18	O00422	PNN	Homo sapiens	Q9H307	Anti Tag CoIP	22388736
Intra	SAP18	O00422	PNN	Homo sapiens	Q9H307	Anti Tag CoIP	33961781
Intra	SAP18	O00422	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	SAP18	O00422	DEF6	Homo sapiens	Q9H4E7	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Dominant 13

MRD13	Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Dominant 13, With Neuronal Migration Defects	Autosomal Dominant Non-Syndromic Intellectual Disability 13
Autosomal Dominant Intellectual Developmental Disorder 13	Autosomal Dominant Mental Retardation 13
Mental Retardation, Autosomal Dominant, Type 13

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome	Gorlin Syndrome
Nbccs	BCNS
Gorlin-Goltz Syndrome	Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
Cerebral Gigantism Jaw Cysts	Cramer Niederdellmann Syndrome
Gorlin Syndrome Or Gorlin-Goltz Syndrome	Naevoid Basal Cell Carcinoma Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12438	SAP18 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SAP18	VGNC	VGNC:34281
Canis familiaris	SAP18	VGNC	VGNC:45859
Rattus norvegicus	SAP18	RGD	RGD:1310388
Macaca mulatta	SAP18	VGNC	VGNC:103861
Mus musculus	SAP18	MGD	MGI:1277978

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