C9orf78
entrez
51759
canonical
uniprot
Q9NZ63
canonical
ensembl
ENSG00000136819
resolver
ensp
ENSP00000361524
resolver
enst
ENST00000372447
resolver
genesymbol
C9orf78
resolver
genesymbol_syn
HCA59
resolver
hgnc
HGNC:24932
resolver
uniprot
B3KPX8
resolver
uniprot
Q8WVU6
resolver
uniprot
Q9NT39
resolver
uniprot_entry
TLS1_HUMAN
resolver
uniprot_sec
B3KPX8
resolver
uniprot_sec
Q8WVU6
resolver
uniprot_sec
Q9NT39
resolver
amino_acid_sequence
MPVVRKIFRRRRGDSESEEDEQDSEEVRLKLEETREVQNLRKRPNGVSAVALLVGEKVQEETTLVDDPFQMKTGGMVDMKKLKERGKDKISEEEDLHLGTSFSAETNRRDEDADMMKYIETELKKRKGIVEHEEQKVKPKNAEDCLYELPENIRVSSAKKTEEMLSNQMLSGIPEVDLGIDAKIKNIISTEDAKARLLAEQQNKKKDSETSFVPTNMAVNYVQHNRFYHEELNAPIRRNKEEPKARPLRVGDTEKPEPERSPPNRKRPANEKATDDYHYEKFKKMNRRY
uniprot
proteins
function
FUNCTION: Plays a role in pre-mRNA splicing by promoting usage of the upstream 3'-splice site at alternative NAGNAG splice sites; these are sites featuring alternative acceptor motifs separated by only a few nucleotides (PubMed:35241646). May also modulate exon inclusion events (PubMed:35241646). Plays a role in spliceosomal remodeling by displacing WBP4 from SNRNP200 and may act to inhibit SNRNP200 helicase activity (PubMed:35241646). Binds U5 snRNA (PubMed:35241646). Required for proper chromosome segregation (PubMed:35167828). Not required for splicing of shelterin components (PubMed:35167828). {ECO:0000269|PubMed:35167828, ECO:0000269|PubMed:35241646}.
uniprot
proteins
mass_dalton
33688
uniprot
proteins
mutagenesis
MUTAGEN 8; /note="F->A: Decreases binding to SNRNP200."; /evidence="ECO:0000269|PubMed:35241646"; MUTAGEN 41; /note="R->A: Abolishes binding to SNRNP200."; /evidence="ECO:0000269|PubMed:35241646
uniprot
proteins
protein_family
TLS1 family
uniprot
proteins
pubmed
12097419
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
35167828
uniprot
proteins
pubmed
35241646
uniprot
proteins
sequence_length
289
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:35167828}. Chromosome, centromere {ECO:0000269|PubMed:35167828}. Note=Dispersed throughout the nucleus during interphase (PubMed:35167828). Colocalizes with microtubule attachment sites at centromeres following mitotic checkpoint activation (PubMed:35167828). {ECO:0000269|PubMed:35167828}.
uniprot
proteins