Gene name: C9orf78

Uniprot entry:

Q9NZ63

Protein names:

Telomere length and silencing protein 1 homolog (Hepatocellular carcinoma-associated antigen 59)

Protein sequence:

1_MPVVR 6_ KIFRR 11_ RRGDS 16_ ESEED 21_ EQDSE 26_ EVRLK 31_ LEETR 36_ EVQNL 41_ RKRPN 46_ GVSAV 51_ ALLVG 56_ EKVQE 61_ ETTLV 66_ DDPFQ 71_ MKTGG 76_ MVDMK 81_ KLKER 86_ GKDKI 91_ SEEED 96_ LHLGT 101_ SFSAE 106_ TNRRD 111_ EDADM 116_ MKYIE 121_ TELKK 126_ RKGIV 131_ EHEEQ 136_ KVKPK 141_ NAEDC 146_ LYELP 151_ ENIRV 156_ SSAKK 161_ TEEML 166_ SNQML 171_ SGIPE 176_ VDLGI 181_ DAKIK 186_ NIIST 191_ EDAKA 196_ RLLAE 201_ QQNKK 206_ KDSET 211_ SFVPT 216_ NMAVN 221_ YVQHN 226_ RFYHE 231_ ELNAP 236_ IRRNK 241_ EEPKA 246_ RPLRV 251_ GDTEK 256_ PEPER 261_ SPPNR 266_ KRPAN 271_ EKATD 276_ DYHYE 281_KFKKM

Protein annotations

Protein functions:

1: 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)