Gene Symbol |
RBM17
|
Entrez Gene |
84991
|
Alt Symbol |
SPF45
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
RNA binding motif protein 17
|
Other Description |
45 kDa-splicing factor|RNA-binding motif protein 17|splicing factor 45|splicing factor 45kDa
|
Swissprots |
Q96I25 Q96GY6
|
Accessions |
CCQ43786 EAW86405 EAW86406 EAW86407 EAW86408 EAW86409 EAW86410 EAW86411 Q96I25 AA905075 AF542550 AAQ09533 AK021863 AK314952 BAG37457 BC007871 AAH07871 BC009064 AAH09064 BC039322 AAH39322 BX648288 CN291330 CV570433 HQ448221 ADQ32701 NM_001145547 NP_001139019 NM_032905 NP_116294
|
Function |
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. {ECO:0000269|PubMed:12015979, ECO:0000269|PubMed:17589525}.
|
Subcellular Location |
Nucleus {ECO:0000269|PubMed:9731529}.
|
Top Pathways |
Spliceosome
|