RBM17
entrez
84991
canonical
uniprot
Q96I25
canonical
ensembl
ENSG00000134453
resolver
ensp
ENSP00000369218
resolver
ensp
ENSP00000388638
resolver
ensp
ENSP00000580377
resolver
ensp
ENSP00000580378
resolver
ensp
ENSP00000580379
resolver
ensp
ENSP00000580380
resolver
ensp
ENSP00000580381
resolver
ensp
ENSP00000580383
resolver
ensp
ENSP00000580384
resolver
ensp
ENSP00000580385
resolver
ensp
ENSP00000580386
resolver
ensp
ENSP00000600096
resolver
ensp
ENSP00000600097
resolver
ensp
ENSP00000615691
resolver
ensp
ENSP00000615692
resolver
ensp
ENSP00000615693
resolver
enst
ENST00000379888
resolver
enst
ENST00000446108
resolver
enst
ENST00000910318
resolver
enst
ENST00000910319
resolver
enst
ENST00000910320
resolver
enst
ENST00000910321
resolver
enst
ENST00000910322
resolver
enst
ENST00000910324
resolver
enst
ENST00000910325
resolver
enst
ENST00000910326
resolver
enst
ENST00000910327
resolver
enst
ENST00000930037
resolver
enst
ENST00000930038
resolver
enst
ENST00000945632
resolver
enst
ENST00000945633
resolver
enst
ENST00000945634
resolver
genesymbol
RBM17
resolver
genesymbol_syn
SPF45
resolver
hgnc
HGNC:16944
resolver
uniprot
Q5W009
resolver
uniprot
Q96GY6
resolver
uniprot_entry
Q5W009_HUMAN
resolver
uniprot_entry
SPF45_HUMAN
resolver
uniprot_sec
Q96GY6
resolver
amino_acid_sequence
MSLYDDLGVETSDSKTEGWSKNFKLLQSQLQVKKAALTQAKSQRTKQSTVLAPVIDLKRGGSSDDRQIVDTPPHVAAGLKDPVPSGFSAGEVLIPLADEYDPMFPNDYEKVVKRQREERQRQRELERQKEIEEREKRRKDRHEASGFARRPDPDSDEDEDYERERRKRSMGGAAIAPPTSLVEKDKELPRDFPYEEDSRPRSQSSKAAIPPPVYEEQDRPRSPTGPSNSFLANMGGTVAHKIMQKYGFREGQGLGKHEQGLSTALSVEKTSKRGGKIIVGDATEKDASKKSDSNPLTEILKCPTKVVLLRNMVGAGEVDEDLEVETKEECEKYGKVGKCVIFEIPGAPDDEAVRIFLEFERVESAIKAVVDLNGRYFGGRVVKACFYNLDKFRVLDLAEQV
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
44962
uniprot
proteins
mutagenesis
MUTAGEN 319; /note="D->A: Impairs interaction with SF1; has minor effect on interaction with SF3B1 and U2AF2."; /evidence="ECO:0000269|PubMed:17589525"; MUTAGEN 319; /note="D->K: Abolishes interaction with SF3B1, SF1 and U2AF2. Abolishes regulation of alternative splicing."; /evidence="ECO:0000269|PubMed:17589525"; MUTAGEN 375; /note="R->A: Impairs interaction with SF3B1, SF1 and U2AF2. Abolishes regulation of alternative splicing."; /evidence="ECO:0000269|PubMed:17589525"; MUTAGEN 376; /note="Y->A: Impairs interaction with SF3B1, SF1 and U2AF2. Abolishes regulation of alternative splicing."; /evidence="ECO:0000269|PubMed:17589525"; MUTAGEN 377; /note="F->A: Impairs interaction with SF1 and U2AF2 and abolishes interaction with SF3B1. Abolishes regulation of alternative splicing."; /evidence="ECO:0000269|PubMed:17589525
uniprot
proteins
pubmed
12015979
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17589525
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
9731529
uniprot
proteins
sequence_length
401
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9731529}.
uniprot
proteins