• Gene id: 51008

Gene Summary

• Gene Symbol: ASCC1   Gene   UCSC   Ensembl
• Aliases: ASC1p50, CGI-18, SMABF2, p50
• Gene name: activating signal cointegrator 1 complex subunit 1
• Alternate names: activating signal cointegrator 1 complex subunit 1, ASC-1 complex subunit P50, trip4 complex subunit p50,
• Gene location: 10q22.1 (72218776: 72096031)     Exons: 16     NC_000010.11
• Gene summary(Entrez): 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 (
• OMIM: 617792

Protein Summary

• Protein general information: Q8N9N2  
  • Name: Activating signal cointegrator 1 complex subunit 1 (ASC 1 complex subunit p50) (Trip4 complex subunit p50)
  • Length: 400  
  • Mass: 45509
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MEVLRPQLIRIDGRNYRKNPVQEQTYQHEEDEEDFYQGSMECADEPCDAYEVEQTPQGFRSTLRAPSLLYNLIHL
  NTSNDCGFQKITLDCQNIYTWKSRHIVGKRGDTRKKIEMETKTSISIPKPGQDGEIVITGQHRNGVISARTRIDV
  LLDTFRRKQPFTHFLAFFLNEVEVQEGFLRFQEEVLAKCSMDHGVDSSIFQNPKKLHLTIGMLVLLSEEEIQQTC
  EMLQQCKEEFINDISGGKPLEVEMAGIEYMNDDPGMVDVLYAKVHMKDGSNRLQELVDRVLERFQASGLIVKEWN
  SVKLHATVMNTLFRKDPNAEGRYNLYTAEGKYIFKERESFDGRNILKSFALLPRLEYNDAISAHCNLCLPGSSDS
  PASASQVAGITGVSDAYSQSLPGKS

• Structural information:
  • Protein Domains: (86..14-)
    (/note="KH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117"-)
  • Interpro: IPR009210  IPR009097  IPR004088  IPR036612  IPR019510  
  • Prosite: PS50084
  • STRING: ENSP00000339404
• Other Databases: GeneCards:  ASCC1  Malacards:  ASCC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0031594	neuromuscular junction	IMP	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0006307	DNA dealkylation involved in DNA repair	TAS	biological process
GO:0006307	DNA dealkylation involved in DNA repair	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Spinal muscular atrophy with congenital bone fractures	KEGG:H02238
Barrett esophagus	KEGG:H01901
Spinal muscular atrophy with congenital bone fractures	KEGG:H02238
Barrett esophagus	KEGG:H01901
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq