ASCC1 - activating signal cointegrator 1 complex subunit 1 Gene

Also Known as p50; CGI-18; SMABF2; ASC1p50

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51008

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
12077347 GOA
Cellular Component GO Annotation Evidence References Source
part of DNA repair complex IPI
IPI: Inferred from physical interaction
29997253 GOA
located in neuromuscular junction IMP
IMP: Inferred from mutant phenotype
26924529 GOA
located in nucleus IDA
IDA: Inferred from direct assay
12077347 GOA
part of transcription regulator complex IDA
IDA: Inferred from direct assay
12077347 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

ASCC1 Protein Structure

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.
Protein Preferred Names Protein Names

activating signal cointegrator 1 complex subunit 1

  • ASC-1 complex subunit P50

ASCC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ASCC1 Q8N9N2 ASCC3 Homo sapiens Q8N3C0
Anti Bait CoIP
29997253
Intra
ASCC1 Q8N9N2 ASCC3 Homo sapiens Q8N3C0
Anti Tag CoIP
33961781
Intra
ASCC1 Q8N9N2 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
25416956
Intra
ASCC1 Q8N9N2 TRAF2 Homo sapiens Q12933
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01075 ASCC1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others ASCC1 NCBI