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P14678 Proteins with OtherRepeats Repeats

Uniprot ID: P14678	Protein name : Small nuclear ribonucleoprotein-associated proteins B and B'	Gene : SNRPB COD SNRPB1
Protein Families : SnRNP SmB/SmN family	Squence Length : 240

Sequence	>P14678 241 MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCDCDEFRKIKPKNSKQAEREEKRVLGLVLLRGENLVSMTVEGPPPKDTGIARVPLAGAAGGPGIGRAAGRGIPAGVPMPQAPAGLAGPVRGVGGPSQQVMTPQGRGTVAAAAAAATASIAGAPTQYPPGRGGPPPPMGRGAPPPGMMGPPPGMRPPMGPPMGIPPGRGTPMGMPPPGMRPPPPGMRGPPPPGMRPPRP
Repeat regions	REPEAT 175 181 REPEAT 191 196 REPEAT 216 221 REPEAT 222 228 REPEAT 230 236
Sequence region of repeats	175- 181 PPMGRGA 191- 196 PGMRPP 216- 221 PGMRPP 222- 228 PPGMRGP 230- 236 PPGMRPP
Function	"Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. As part of the U7 snRNP it is involved in histone 3'-end processing"
Mutation
Disease	"DISEASE: Cerebrocostomandibular syndrome (CCMS) [MIM:117650]: A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and mental retardation Note=The disease is caused by mutations affecting the gene represented in this entry"