ASCC1
entrez
51008
canonical
uniprot
Q8N9N2
canonical
ensembl
ENSG00000138303
resolver
ensp
ENSP00000320810
resolver
ensp
ENSP00000339404
resolver
ensp
ENSP00000431299
resolver
ensp
ENSP00000500074
resolver
ensp
ENSP00000500906
resolver
ensp
ENSP00000500935
resolver
ensp
ENSP00000572319
resolver
ensp
ENSP00000572320
resolver
ensp
ENSP00000572323
resolver
ensp
ENSP00000581815
resolver
ensp
ENSP00000627363
resolver
ensp
ENSP00000655162
resolver
ensp
ENSP00000655163
resolver
ensp
ENSP00000705957
resolver
ensp
ENSP00000705959
resolver
enst
ENST00000317168
resolver
enst
ENST00000672940
resolver
enst
ENST00000902260
resolver
genesymbol
ASCC1
resolver
hgnc
HGNC:24268
resolver
uniprot
A0A5F9ZH79
resolver
uniprot
A0A5K1VW55
resolver
uniprot
Q5SW06
resolver
uniprot
Q5SW07
resolver
uniprot
Q96EI8
resolver
uniprot
Q9Y307
resolver
uniprot_entry
A0A5F9ZH79_HUMAN
resolver
uniprot_entry
A0A5K1VW55_HUMAN
resolver
uniprot_entry
ASCC1_HUMAN
resolver
uniprot_sec
Q5SW06
resolver
uniprot_sec
Q5SW07
resolver
uniprot_sec
Q96EI8
resolver
uniprot_sec
Q9Y307
resolver
amino_acid_sequence
MEVLRPQLIRIDGRNYRKNPVQEQTYQHEEDEEDFYQGSMECADEPCDAYEVEQTPQGFRSTLRAPSLLYNLIHLNTSNDCGFQKITLDCQNIYTWKSRHIVGKRGDTRKKIEMETKTSISIPKPGQDGEIVITGQHRNGVISARTRIDVLLDTFRRKQPFTHFLAFFLNEVEVQEGFLRFQEEVLAKCSMDHGVDSSIFQNPKKLHLTIGMLVLLSEEEIQQTCEMLQQCKEEFINDISGGKPLEVEMAGIEYMNDDPGMVDVLYAKVHMKDGSNRLQELVDRVLERFQASGLIVKEWNSVKLHATVMNTLFRKDPNAEGRYNLYTAEGKYIFKERESFDGRNILKSFALLPRLEYNDAISAHCNLCLPGSSDSPASASQVAGITGVSDAYSQSLPGKS
uniprot
proteins
disease_involvement
DISEASE: Barrett esophagus (BE) [MIM:614266]: A 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. {ECO:0000269|PubMed:21791690}. Note=The gene represented in this entry may be involved in disease pathogenesis.; DISEASE: Spinal muscular atrophy with congenital bone fractures 2 (SMABF2) [MIM:616867]: An 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. {ECO:0000269|PubMed:26924529}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:12077347, ECO:0000269|PubMed:19074642, ECO:0000269|PubMed:26924529, ECO:0000269|PubMed:29997253}.
uniprot
proteins
mass_dalton
45509
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
12077347
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19074642
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21791690
uniprot
proteins
pubmed
22055184
uniprot
proteins
pubmed
26924529
uniprot
proteins
pubmed
29144457
uniprot
proteins
pubmed
29997253
uniprot
proteins
pubmed
31799605
uniprot
proteins
sequence_length
400
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12077347, ECO:0000269|PubMed:26924529}. Nucleus speckle {ECO:0000269|PubMed:29997253}. Note=Colocalizes with PRPF8 in nuclear speckles in the absence of DNA damage. {ECO:0000269|PubMed:29997253}.
uniprot
proteins