Gene name: RBM17

Uniprot entry:

Q96I25

Protein names:

Splicing factor 45 (45 kDa-splicing factor) (RNA-binding motif protein 17)

Protein sequence:

1_MSLYD 6_ DLGVE 11_ TSDSK 16_ TEGWS 21_ KNFKL 26_ LQSQL 31_ QVKKA 36_ ALTQA 41_ KSQRT 46_ KQSTV 51_ LAPVI 56_ DLKRG 61_ GSSDD 66_ RQIVD 71_ TPPHV 76_ AAGLK 81_ DPVPS 86_ GFSAG 91_ EVLIP 96_ LADEY 101_ DPMFP 106_ NDYEK 111_ VVKRQ 116_ REERQ 121_ RQREL 126_ ERQKE 131_ IEERE 136_ KRRKD 141_ RHEAS 146_ GFARR 151_ PDPDS 156_ DEDED 161_ YERER 166_ RKRSM 171_ GGAAI 176_ APPTS 181_ LVEKD 186_ KELPR 191_ DFPYE 196_ EDSRP 201_ RSQSS 206_ KAAIP 211_ PPVYE 216_ EQDRP 221_ RSPTG 226_ PSNSF 231_ LANMG 236_ GTVAH 241_ KIMQK 246_ YGFRE 251_ GQGLG 256_ KHEQG 261_ LSTAL 266_ SVEKT 271_ SKRGG 276_ KIIVG 281_ DATEK 286_ DASKK 291_ SDSNP 296_ LTEIL 301_ KCPTK 306_ VVLLR 311_ NMVGA 316_ GEVDE 321_ DLEVE 326_ TKEEC 331_ EKYGK 336_ VGKCV 341_ IFEIP 346_ GAPDD 351_ EAVRI 356_ FLEFE 361_ RVESA 366_ IKAVV 371_ DLNGR 376_ YFGGR 381_ VVKAC 386_ FYNLD 391_ KFRVL 396_DLAEQ

Protein annotations

Protein functions:

1: Splice factor that binds to the single-stranded 3'AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia