SNIP1
entrez
79753
canonical
uniprot
Q8TAD8
canonical
ensembl
ENSG00000163877
resolver
ensp
ENSP00000296215
resolver
enst
ENST00000296215
resolver
genesymbol
SNIP1
resolver
hgnc
HGNC:30587
resolver
uniprot
B1AK66
resolver
uniprot
Q96SP9
resolver
uniprot
Q9H9T7
resolver
uniprot_entry
B1AK66_HUMAN
resolver
uniprot_entry
SNIP1_HUMAN
resolver
uniprot_sec
Q96SP9
resolver
uniprot_sec
Q9H9T7
resolver
amino_acid_sequence
MKAVKSERERGSRRRHRDGDVVLPAGVVVKQERLSPEVAPPAHRRPDHSGGSPSPPTSEPARSGHRGNRARGVSRSPPKKKNKASGRRSKSPRSKRNRSPHHSTVKVKQEREDHPRRGREDRQHREPSEQEHRRARNSDRDRHRGHSHQRRTSNERPGSGQGQGRDRDTQNLQAQEEEREFYNARRREHRQRNDVGGGGSESQELVPRPGGNNKEKEVPAKEKPSFELSGALLEDTNTFRGVVIKYSEPPEARIPKKRWRLYPFKNDEVLPVMYIHRQSAYLLGRHRRIADIPIDHPSCSKQHAVFQYRLVEYTRADGTVGRRVKPYIIDLGSGNGTFLNNKRIEPQRYYELKEKDVLKFGFSSREYVLLHESSDTSEIDRKDDEDEEEEEEVSDS
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures (NEDHCS) [MIM:614501]: An autosomal recessive disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period. {ECO:0000269|PubMed:22279524}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for pre-mRNA splicing as component of the spliceosome (PubMed:29360106). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Down-regulates NF-kappa-B signaling by competing with RELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA) biogenesis. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. {ECO:0000269|PubMed:11567019, ECO:0000269|PubMed:15378006, ECO:0000269|PubMed:18632581, ECO:0000269|PubMed:18794151, ECO:0000269|PubMed:29360106, ECO:0000305|PubMed:33509932}.
uniprot
proteins
mass_dalton
45778
uniprot
proteins
mutagenesis
MUTAGEN 30; /note="K->R: Abolishes sumoylation."; /evidence="ECO:0000269|PubMed:16371476
uniprot
proteins
post_translational_modification
PTM: Degraded by the proteasome upon binding to the SMAD1/OAZ1/PSMB4 complex.
uniprot
proteins
pubmed
10887155
uniprot
proteins
pubmed
11567019
uniprot
proteins
pubmed
12097147
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15378006
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16371476
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18632581
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18794151
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22279524
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29360106
uniprot
proteins
pubmed
33509932
uniprot
proteins
sequence_length
396
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10887155, ECO:0000269|PubMed:29360106}.
uniprot
proteins