ASCC1 - activating signal cointegrator 1 complex subunit 1 Gene

Homo sapiens

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

Gene ID: 51008 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12077347	GOA

Cellular Component GO Annotation	Evidence	Reference	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

AKAP7_NLS

0
100
200
300
400 a.a.

Protein Preferred Names

Protein Names

activating signal cointegrator 1 complex subunit 1

ASC-1 complex subunit P50

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01075	ASCC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.