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

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

ASCC1 Protein Structure

KH_1

KH_1: KH domain (98 - 140)

AKAP7_NLS

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

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  • 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

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