ASCC1 (activating signal cointegrator 1 complex subunit 1)

Gene

• Entrez ID: 51008
• Gene name: Activating signal cointegrator 1 complex subunit 1
• Gene symbol: ASCC1
• Synonyms: ASC1p50, CGI-18, SMABF2, p50
• Chromosome: 10
• Chromosome location: 10q22.1
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs145940742	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs146370051	T>C	Benign, pathogenic, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs183415577	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs747595523	C>T	Pathogenic	Splice donor variant
rs753324947	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs866050664	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1389098934	G>A,T	Pathogenic	Stop gained, coding sequence variant, intron variant, synonymous variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT446496	hsa-miR-1287-3p	PAR-CLIP	22100165
MIRT446497	hsa-miR-4524b-5p	PAR-CLIP	22100165
MIRT446498	hsa-miR-4524a-5p	PAR-CLIP	22100165
MIRT446499	hsa-miR-335-5p	PAR-CLIP	22100165
MIRT446500	hsa-miR-646	PAR-CLIP	22100165
MIRT446501	hsa-miR-503-5p	PAR-CLIP	22100165
MIRT446502	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT446503	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT446504	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT446505	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT446506	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT446507	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT446508	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT446509	hsa-miR-451b	PAR-CLIP	22100165
MIRT446510	hsa-miR-543	PAR-CLIP	22100165
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT615723	hsa-miR-603	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615727	hsa-miR-944	HITS-CLIP	23824327
MIRT615728	hsa-miR-8054	HITS-CLIP	23824327
MIRT615729	hsa-miR-548k	HITS-CLIP	23824327
MIRT615730	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT615731	hsa-miR-548n	HITS-CLIP	23824327
MIRT714018	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT714019	hsa-miR-500b-3p	HITS-CLIP	19536157
MIRT714020	hsa-miR-224-5p	HITS-CLIP	19536157
MIRT714021	hsa-miR-6776-3p	HITS-CLIP	19536157

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005634	Component	Nucleus	IDA	12077347, 26924529
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	12077347
GO:0006307	Process	DNA dealkylation involved in DNA repair	TAS
GO:0006355	Process	Regulation of transcription, DNA-templated	IDA	12077347
GO:0016607	Component	Nuclear speck	IEA
GO:0031594	Component	Neuromuscular junction	IMP	26924529

Other IDs

• MIM: 614215
• HGNC: 24268
• e!Ensembl: ENSG00000138303

Protein

• UniProt ID: Q8N9N2
• Protein name: Activating signal cointegrator 1 complex subunit 1 (ASC-1 complex subunit p50) (Trip4 complex subunit p50)
• Protein function: Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00013	KH_1	92 → 149	KH domain	Domain
  PF10469	AKAP7_NLS	161 → 378		Domain

• Sequence:

  MEVLRPQLIRIDGRNYRKNPVQEQTYQHEEDEEDFYQGSMECADEPCDAYEVEQTPQGFR
  STLRAPSLLYNLIHLNTSNDCGFQKITLDCQNIYTWKSRHIVGKRGDTRKKIEMETKTSI
  SIPKPGQDGEIVITGQHRNGVISARTRIDVLLDTFRRKQPFTHFLAFFLNEVEVQEGFLR
  FQEEVLAKCSMDHGVDSSIFQNPKKLHLTIGMLVLLSEEEIQQTCEMLQQCKEEFINDIS
  GGKPLEVEMAGIEYMNDDPGMVDVLYAKVHMKDGSNRLQELVDRVLERFQASGLIVKEWN
  SVKLHATVMNTLFRKDPNAEGRYNLYTAEGKYIFKERESFDGRNILKSFALLPRLEYNDA
  ISAHCNLCLPGSSDSPASASQVAGITGVSDAYSQSLPGKS

• Sequence length: 400

Pathways

Reactome:

ALKBH3 mediated reversal of alkylation damage

Associated diseases

Disease name	Disease term	References
	Arthrogryposis	28749478
	Barrett Epithelium
	Barrett Esophagus
	NON RARE IN EUROPE: Barrett esophagus
	Respiratory Distress Syndrome, Newborn
	Congenital hypoplasia of lung
	Global developmental delay
	Deglutition Disorders
	Esophageal carcinoma
	Gastroesophageal reflux disease
	Patent ductus arteriosus
	Foramen Ovale, Patent
	Pena-Shokeir syndrome type I	28749478
	Peripheral axonal neuropathy
	Respiratory Failure
	Spinal Muscular Atrophy	28749478
	SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2	28749478
	Prenatal-onset spinal muscular atrophy with congenital bone fractures
	Ulcer of esophagus