2. Gene
  3. SAP18 - Sin3A associated protein 18 Gene

SAP18 - Sin3A associated protein 18 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：Sin3A 相关蛋白 18

种属: Homo sapiens

同用名: SAP18P; 2HOR0202

基因 ID: 10284 | 基因类型: protein coding

关于 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.

功能概要

组蛋白乙酰化在真核基因表达的调控中起着关键作用。组蛋白乙酰化和脱乙酰化由多亚基复合物催化。该基因编码的蛋白质是组蛋白脱乙酰酶复合物的组成部分，包括 SIN3、SAP30、HDAC1、HDAC2、RbAp46、RbAp48 等多肽。这种蛋白质直接与 SIN3 相互作用，并在连接到启动子时增强 SIN3 介导的转录抑制。已在 2 号染色体上鉴定出一个假基因。[RefSeq 提供，2008 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
9150135 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
12665594 GOA
involved in positive regulation of apoptotic process IDA
IDA: 通过直接分析推断
12665594 GOA
involved in regulation of alternative mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
20966198 GOA
involved in regulation of alternative mRNA splicing, via spliceosome IMP
IMP: 通过突变表型推断
22203037 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ASAP complex IDA
IDA: 通过直接分析推断
12665594 GOA
part of exon-exon junction complex IDA
IDA: 通过直接分析推断
16314458 GOA
located in nuclear speck IDA
IDA: 通过直接分析推断
20966198 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SAP18 蛋白结构

SAP18

SAP18: Sin3 associated polypeptide p18 (SAP18) (17 - 137)

  • 0
  • 100
  • 153 a.a.
蛋白主名 其他名称

histone deacetylase complex subunit SAP18

18 kDa Sin3-associated polypeptide

SAP18 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SAP18 O00422 HDAC1 Homo sapiens Q13547
Pull Down
9150135
种属内
SAP18 O00422 HDAC1 Homo sapiens Q13547
Anti Tag CoIP
9150135
种属内
SAP18 O00422 RBM39 Homo sapiens Q14498
Y2H
22365833
种属内
SAP18 O00422 RBM39 Homo sapiens Q14498
Y2H Prey Pooling
25416956
种属内
SAP18 O00422 RBM39 Homo sapiens Q14498
Y2H Array
25416956
种属内
SAP18 O00422 RBM39 Homo sapiens Q14498
Anti Tag CoIP
33961781
种属内
SAP18 O00422 RBM39 Homo sapiens Q14498
Validated Y2H
32296183
种属内
SAP18 O00422 INCA1 Homo sapiens Q0VD86
Validated Y2H
25416956
种属内
SAP18 O00422 PNN Homo sapiens Q9H307
Anti Tag CoIP
22388736
种属内
SAP18 O00422 PNN Homo sapiens Q9H307
Anti Tag CoIP
33961781
种属内
SAP18 O00422 NTAQ1 Homo sapiens Q96HA8
Validated Y2H
32296183
种属内
SAP18 O00422 DEF6 Homo sapiens Q9H4E7
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12438 SAP18 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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