2. Gene
  3. ASCC1 - activating signal cointegrator 1 complex subunit 1 Gene

ASCC1 - activating signal cointegrator 1 complex subunit 1 Gene

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

中文名称：激活信号协整子 1 复杂亚基 1

种属: Homo sapiens

同用名: p50; CGI-18; SMABF2; ASC1p50

基因 ID: 51008 | 基因类型: protein coding

关于 ASCC1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:72,096,032-72,217,134 (from NCBI)

This gene has 26 transcripts (splice variants), 204 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 7.6), brain (RPKM 6.4) and 25 other tissues.

功能概要

该基因编码激活信号协整合子 1 (ASC-1) 复合体的一个亚基。 ASC-1 复合物是一种转录共激活因子，在多种转录因子的基因反式激活中起重要作用，包括激活蛋白 1 (AP-1) 、核因子 kappa-B (NF-kB) 和血清反应因子 (SRF) 。编码的蛋白质包含一个 N 端 KH 型 RNA 结合基序，这是 ASC-1 复合物激活 AP-1 所必需的。该基因的突变与 Barrett 食管和食管腺癌有关。已经观察到该基因编码多种亚型的可变剪接转录物。[RefSeq 提供，2011 年 12 月]

This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

ASCC1 基因产物(31)

mRNA Protein Name
NM_001198798.2 NP_001185727.1 activating signal cointegrator 1 complex subunit 1 isoform b
NM_001198799.3 NP_001185728.1 activating signal cointegrator 1 complex subunit 1 isoform a
NM_001198800.3 NP_001185729.1 activating signal cointegrator 1 complex subunit 1 isoform b
NM_001369085.1 NP_001356014.1 activating signal cointegrator 1 complex subunit 1 isoform 3
NM_001369086.1 NP_001356015.1 activating signal cointegrator 1 complex subunit 1 isoform 4
NM_001369087.1 NP_001356016.1 activating signal cointegrator 1 complex subunit 1 isoform 5
NM_001369088.1 NP_001356017.1 activating signal cointegrator 1 complex subunit 1 isoform 5
NM_001369089.1 NP_001356018.1 activating signal cointegrator 1 complex subunit 1 isoform 5
NM_001369090.1 NP_001356019.1 activating signal cointegrator 1 complex subunit 1 isoform 6
NM_001369091.1 NP_001356020.1 activating signal cointegrator 1 complex subunit 1 isoform 6
NM_001369092.1 NP_001356021.1 activating signal cointegrator 1 complex subunit 1 isoform 6
NM_001369093.1 NP_001356022.1 activating signal cointegrator 1 complex subunit 1 isoform b
NM_001369094.1 NP_001356023.1 activating signal cointegrator 1 complex subunit 1 isoform b
NM_001369095.1 NP_001356024.1 activating signal cointegrator 1 complex subunit 1 isoform b
NM_001369096.1 NP_001356025.1 activating signal cointegrator 1 complex subunit 1 isoform 7
NM_001369097.1 NP_001356026.1 activating signal cointegrator 1 complex subunit 1 isoform 7
NM_001369098.1 NP_001356027.1 activating signal cointegrator 1 complex subunit 1 isoform 7
NM_001369099.1 NP_001356028.1 activating signal cointegrator 1 complex subunit 1 isoform 8
NM_001369100.1 NP_001356029.1 activating signal cointegrator 1 complex subunit 1 isoform 9
NM_001369101.1 NP_001356030.1 activating signal cointegrator 1 complex subunit 1 isoform 10
NM_001369102.1 NP_001356031.1 activating signal cointegrator 1 complex subunit 1 isoform 10
NM_001369103.1 NP_001356032.1 activating signal cointegrator 1 complex subunit 1 isoform 11
NM_001369104.1 NP_001356033.1 activating signal cointegrator 1 complex subunit 1 isoform 11
NM_001369105.1 NP_001356034.1 activating signal cointegrator 1 complex subunit 1 isoform 12
NM_001369106.1 NP_001356035.1 activating signal cointegrator 1 complex subunit 1 isoform 12
NM_001369107.1 NP_001356036.1 activating signal cointegrator 1 complex subunit 1 isoform 12
NM_001369108.1 NP_001356037.1 activating signal cointegrator 1 complex subunit 1 isoform 13
NM_001369109.1 NP_001356038.1 activating signal cointegrator 1 complex subunit 1 isoform 13
NM_001369110.1 NP_001356039.1 activating signal cointegrator 1 complex subunit 1 isoform 14
NM_001369111.1 NP_001356040.1 activating signal cointegrator 1 complex subunit 1 isoform 14
NM_001369112.1 NP_001356041.1 activating signal cointegrator 1 complex subunit 1 isoform 15
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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
12077347 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of DNA repair complex IPI
IPI: 通过物理相互作用推断
29997253 GOA
located in neuromuscular junction IMP
IMP: 通过突变表型推断
26924529 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12077347 GOA
part of transcription regulator complex IDA
IDA: 通过直接分析推断
12077347 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

ASCC1 蛋白结构

KH_1

KH_1: KH domain (98 - 140)

AKAP7_NLS

AKAP7_NLS: AKAP7 2'5' RNA ligase-like domain (161 - 350)

  • 0
  • 100
  • 200
  • 300
  • 400 a.a.
蛋白主名 其他名称

activating signal cointegrator 1 complex subunit 1

ASC-1 complex subunit P50

ASCC1 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
ASCC1 Q8N9N2 ASCC3 Homo sapiens Q8N3C0
Anti Bait CoIP
29997253
种属内
ASCC1 Q8N9N2 ASCC3 Homo sapiens Q8N3C0
Anti Tag CoIP
33961781
种属内
ASCC1 Q8N9N2 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
25416956
种属内
ASCC1 Q8N9N2 TRAF2 Homo sapiens Q12933
Y2H Array
25416956
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
Spinal Muscular Atrophy With Congenital Bone Fractures 2

SMABF2

Atrophy, Muscular, Spinal, With Congenital Bone Fractures, Type 2
Barrett Esophagus

Barrett'S Esophagus

Barrett Esophagus/Esophageal Adenocarcinoma

Barrett Metaplasia

Barrett'S Ulcer Of Esophagus

Ulcerative Esophagitis

Barrett'S Esophagus With Esophagitis

Barrett'S Oesophagus

Barretts Syndrome

Barrett Syndrome

BE

Peptic Ulcer Of Esophagus

Adenocarcinoma Of Esophagus
Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures

Smabf
Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]
Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]
Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy
Adenocarcinoma

Adenocarcinomas

Adenoacanthoma Of Unspecified Site

Adenocarcinoid Of Unspecified Site

Adenocarcinoid Tumour Of Unspecified Site

Adenocarcinoma And Carcinoid Combined Of Unspecified Site

Adenocarcinoma Nos
Congenital Contractures

Congenital Contracture
Gastroesophageal Reflux

Gastroesophageal Reflux Disease

Gerd

GER

Gastroesophageal Reflux, Pediatric

Acid Reflux

Gastresophageal Reflux

Gastro-Esophageal Reflux

Gerd - Gastro-Esophageal Reflux Disease
Mitochondrial Dna Depletion Syndrome 2

Mitochondrial Dna Depletion Syndrome, Myopathic Form

MTDPS2

Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Mitochondrial Dna Depletion Myopathy, Tk2-Related

Tk2-Related Mitochondrial Dna Depletion Myopathy

Mtdna Depletion Syndrome, Myopathic Form

Mitochondrial Dna Depletion Myopathy Tk2-Related

Mitochondrial Dna Depletion Syndrome 2 Myopathic Type

Myopathic Mitochondrial Dna Depletion Syndrome

Mitochondrial Dna Depletion Syndrome, Type 2
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Jacobs Syndrome

Arthropathy-Camptodactyly Syndrome

Pericarditis-Arthropathy-Camptodactyly Syndrome

Xyy Syndrome

Pac Syndrome

Cacp Syndrome

CACP

Fibrosing Serositis, Familial

Camptodactyly-Arthropathy-Pericarditis Syndrome

Cap Syndrome

47, Xyy Syndrome

47,Xyy Syndrome

Double Y Syndrome

Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome

Hypertrophic Synovitis, Congenital Familial

Congenital Familial Hypertrophic Synovitis

Xyy Karyotype

Y Disomy

Yy Syndrome

Familial Fibrosing Serositis

Disomy Y

Double Y

Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome

Arthropathy Camptodactyly Syndrome

Camptodactyly Arthropathy Pericarditis Syndrome

Pericarditis Arthropathy Camptodactyly Syndrome

Jacob'S Syndrome

47,Xyy

Cdags 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-RS01075 ASCC1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus ASCC1 MGD MGI:1916340
Felis catus ASCC1 VGNC VGNC:59966
Canis familiaris ASCC1 VGNC VGNC:38170
Rattus norvegicus ASCC1 RGD RGD:1359255
Macaca mulatta ASCC1 VGNC VGNC:69896
Bos taurus ASCC1 VGNC VGNC:26203
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