Tag | Content |
---|---|
UniProt Accession | SPF45_HUMAN; Q96I25; |
Entrez ID | 84991 |
GenBank Protein ID | NM_001145547.1; NM_032905.4; |
GenBank Nucleotide ID | NP_001139019.1; NP_116294.1; |
Protein Name | Splicing factor 45 (45 kDa-splicing factor) (RNA-binding motif protein 17) |
Gene Name | RBM17; SPF45 |
Organism | Homo sapiens |
NCBI Taxa ID | 9606 |
Functional Description | 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. |
Sequence (Fasta) | MSLYDDLGVE TSDSKTEGWS KNFKLLQSQL QVKKAALTQA KSQRTKQSTV LAPVIDLKRG 60 GSSDDRQIVD TPPHVAAGLK DPVPSGFSAG EVLIPLADEY DPMFPNDYEK VVKRQREERQ 120 RQRELERQKE IEEREKRRKD RHEASGFARR PDPDSDEDED YERERRKRSM GGAAIAPPTS 180 LVEKDKELPR DFPYEEDSRP RSQSSKAAIP PPVYEEQDRP RSPTGPSNSF LANMGGTVAH 240 KIMQKYGFRE GQGLGKHEQG LSTALSVEKT SKRGGKIIVG DATEKDASKK SDSNPLTEIL 300 KCPTKVVLLR NMVGAGEVDE DLEVETKEEC EKYGKVGKCV IFEIPGAPDD EAVRIFLEFE 360 RVESAIKAVV DLNGRYFGGR VVKACFYNLD KFRVLDLAEQ V 402 |
|
Database | Annotation |
---|---|
CTD (Curated) (count: 1) | MESH:D020754 ; Spinocerebellar Ataxias |
GWASdb (count: 1) | rs8463; Multiple complex diseases; Null |
PTM | Modification Sites |
---|---|
Phosphorylation (count: 31) (view all) | 145 RKDRHEASGFARRPD dbPAF
155 ARRPDPDSDEDEDYE dbPAF 161 DSDEDEDYERERRKR dbPAF 169 ERERRKRSMGGAAIA dbPAF 179 GAAIAPPTSLVEKDK dbPAF 180 AAIAPPTSLVEKDKE dbPAF |
Acetylation (count: 16) (view all) | 184 PPTSLVEKDKELPRD PLMD
21 SKTEGWSKNFKLLQS PLMD 24 EGWSKNFKLLQSQLQ PLMD 241 MGGTVAHKIMQKYGF PLMD 245 VAHKIMQKYGFREGQ PLMD 256 REGQGLGKHEQGLST PLMD |
Ubiquitination (count: 5) | 184 PPTSLVEKDKELPRD PLMD
256 REGQGLGKHEQGLST PLMD 327 EDLEVETKEECEKYG PLMD 33 LQSQLQVKKAALTQA PLMD 46 QAKSQRTKQSTVLAP PLMD |
Glycation (count: 2) | 289 ATEKDASKKSDSNPL PLMD
327 EDLEVETKEECEKYG PLMD |
Network | Interaction | ||
---|---|---|---|
A | B | Source | |