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Protein

Activating signal cointegrator 1 complex subunit 1

Gene

ASCC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Enhances NF-kappa-B, SRF and AP1 transactivation. In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction.2 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-112126 ALKBH3 mediated reversal of alkylation damage

Names & Taxonomyi

Protein namesi
Recommended name:
Activating signal cointegrator 1 complex subunit 1
Alternative name(s):
ASC-1 complex subunit p50
Trip4 complex subunit p50
Gene namesi
Name:ASCC1
ORF Names:CGI-18
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000138303.17
HGNCiHGNC:24268 ASCC1
MIMi614215 gene
neXtProtiNX_Q8N9N2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Barrett esophagus (BE)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionA condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes.
See also OMIM:614266
Spinal muscular atrophy with congenital bone fractures 2 (SMABF2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures.
See also OMIM:616867

Keywords - Diseasei

Neurodegeneration

Organism-specific databases

DisGeNETi51008
MalaCardsiASCC1
MIMi614266 phenotype
616867 phenotype
OpenTargetsiENSG00000138303
Orphaneti1232 Barrett esophagus
PharmGKBiPA134974899

Polymorphism and mutation databases

BioMutaiASCC1
DMDMi50400556

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000501001 – 400Activating signal cointegrator 1 complex subunit 1Add BLAST400

Proteomic databases

EPDiQ8N9N2
MaxQBiQ8N9N2
PaxDbiQ8N9N2
PeptideAtlasiQ8N9N2
PRIDEiQ8N9N2

PTM databases

iPTMnetiQ8N9N2
PhosphoSitePlusiQ8N9N2

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000138303
CleanExiHS_ASCC1
ExpressionAtlasiQ8N9N2 baseline and differential
GenevisibleiQ8N9N2 HS

Organism-specific databases

HPAiHPA038038
HPA057567

Interactioni

Subunit structurei

Part of the ASC-1 complex, that contains TRIP4, ASCC1, ASCC2 and ASCC3. The ASC-1 complex interacts with ALKBH3. Interacts with CSRP1.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
TRAF2Q129333EBI-10268317,EBI-355744

Protein-protein interaction databases

BioGridi119215, 39 interactors
CORUMiQ8N9N2
IntActiQ8N9N2, 19 interactors
STRINGi9606.ENSP00000339404

Structurei

3D structure databases

ProteinModelPortaliQ8N9N2
SMRiQ8N9N2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini86 – 148KHPROSITE-ProRule annotationAdd BLAST63

Phylogenomic databases

eggNOGiKOG2814 Eukaryota
ENOG4111FMP LUCA
GeneTreeiENSGT00390000018119
HOGENOMiHOG000261687
HOVERGENiHBG050588
InParanoidiQ8N9N2
KOiK18666
OMAiGLCATDN
OrthoDBiEOG091G0FGA
PhylomeDBiQ8N9N2
TreeFamiTF314479

Family and domain databases

Gene3Di3.30.1370.10, 1 hit
InterProiView protein in InterPro
IPR009210 ASCC1
IPR009097 cNuc_Pdiesterase
IPR004088 KH_dom_type_1
IPR036612 KH_dom_type_1_sf
IPR019510 Kinase-A_anchor_nucl_local_sig
PfamiView protein in Pfam
PF10469 AKAP7_NLS, 1 hit
PF00013 KH_1, 1 hit
PIRSFiPIRSF027019 Euk_LigT, 1 hit
SUPFAMiSSF54791 SSF54791, 1 hit
SSF55144 SSF55144, 1 hit
PROSITEiView protein in PROSITE
PS50084 KH_TYPE_1, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N9N2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEVLRPQLIR IDGRNYRKNP VQEQTYQHEE DEEDFYQGSM ECADEPCDAY
60 70 80 90 100
EVEQTPQGFR STLRAPSLLY NLIHLNTSND CGFQKITLDC QNIYTWKSRH
110 120 130 140 150
IVGKRGDTRK KIEMETKTSI SIPKPGQDGE IVITGQHRNG VISARTRIDV
160 170 180 190 200
LLDTFRRKQP FTHFLAFFLN EVEVQEGFLR FQEEVLAKCS MDHGVDSSIF
210 220 230 240 250
QNPKKLHLTI GMLVLLSEEE IQQTCEMLQQ CKEEFINDIS GGKPLEVEMA
260 270 280 290 300
GIEYMNDDPG MVDVLYAKVH MKDGSNRLQE LVDRVLERFQ ASGLIVKEWN
310 320 330 340 350
SVKLHATVMN TLFRKDPNAE GRYNLYTAEG KYIFKERESF DGRNILKSFA
360 370 380 390 400
LLPRLEYNDA ISAHCNLCLP GSSDSPASAS QVAGITGVSD AYSQSLPGKS
Length:400
Mass (Da):45,509
Last modified:October 1, 2002 - v1
Checksum:iDAD067C98CE71DDB
GO
Isoform 2 (identifier: Q8N9N2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-99: NLIHLNTSNDCGFQKITLDCQNIYTWKSR → K
     348-400: SFALLPRLEY...AYSQSLPGKS → LFENFYFGSL...YASCGQIDFS

Show »
Length:357
Mass (Da):41,228
Checksum:iC25FA29C9BA16EDE
GO

Sequence cautioni

The sequence CAI15908 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti11I → F (PubMed:12077347).Curated1
Sequence conflicti11I → F (PubMed:10810093).Curated1
Sequence conflicti240 – 243SGGK → PGR (PubMed:12077347).Curated4
Sequence conflicti240 – 243SGGK → PGR (PubMed:10810093).Curated4
Sequence conflicti250A → P (PubMed:12077347).Curated1
Sequence conflicti250A → P (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06127834D → N. Corresponds to variant dbSNP:rs11558719Ensembl.1
Natural variantiVAR_066588318N → S Found in patients with Barrett esophagus. 1 PublicationCorresponds to variant dbSNP:rs146370051EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01100771 – 99NLIHL…TWKSR → K in isoform 2. 4 PublicationsAdd BLAST29
Alternative sequenceiVSP_011008348 – 400SFALL…LPGKS → LFENFYFGSLKLNSIHISQR FTVDSFGNYASCGQIDFS in isoform 2. 4 PublicationsAdd BLAST53

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY013290 mRNA Translation: AAG45476.1
AF132952 mRNA Translation: AAD27727.1
AK094170 mRNA Translation: BAC04299.1
AK023436 mRNA Translation: BAG51193.1
AL607035, AC022392 Genomic DNA Translation: CAI15907.1
AL607035, AC022392 Genomic DNA Translation: CAI15908.1 Sequence problems.
CH471083 Genomic DNA Translation: EAW54444.1
BC012291 mRNA Translation: AAH12291.1
CCDSiCCDS31219.1 [Q8N9N2-2]
CCDS55713.1 [Q8N9N2-1]
RefSeqiNP_001185727.1, NM_001198798.2 [Q8N9N2-2]
NP_001185728.1, NM_001198799.2 [Q8N9N2-1]
NP_001185729.1, NM_001198800.2 [Q8N9N2-2]
XP_006717936.1, XM_006717873.3 [Q8N9N2-2]
UniGeneiHs.500007

Genome annotation databases

EnsembliENST00000317126; ENSP00000320461; ENSG00000138303 [Q8N9N2-2]
ENST00000317168; ENSP00000320810; ENSG00000138303 [Q8N9N2-2]
ENST00000342444; ENSP00000339404; ENSG00000138303 [Q8N9N2-1]
ENST00000394915; ENSP00000378373; ENSG00000138303 [Q8N9N2-1]
ENST00000394919; ENSP00000378377; ENSG00000138303 [Q8N9N2-2]
GeneIDi51008
KEGGihsa:51008
UCSCiuc001jst.3 human [Q8N9N2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Entry informationi

Entry nameiASCC1_HUMAN
AccessioniPrimary (citable) accession number: Q8N9N2
Secondary accession number(s): Q5SW06
, Q5SW07, Q96EI8, Q9Y307
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 1, 2002
Last modified: March 28, 2018
This is version 145 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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