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Protein

Splicing factor 45

Gene

RBM17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

GO - Biological processi

  • alternative mRNA splicing, via spliceosome Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

mRNA processing, mRNA splicing

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134453-MONOMER.
ReactomeiR-HSA-72163. mRNA Splicing - Major Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Splicing factor 45
Alternative name(s):
45 kDa-splicing factor
RNA-binding motif protein 17
Gene namesi
Name:RBM17
Synonyms:SPF45
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:16944. RBM17.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi319D → A: Impairs interaction with SF1; has minor effect on interaction with SF3B1 and U2AF2. 1 Publication1
Mutagenesisi319D → K: Abolishes interaction with SF3B1, SF1 and U2AF2. Abolishes regulation of alternative splicing. 1 Publication1
Mutagenesisi375R → A: Impairs interaction with SF3B1, SF1 and U2AF2. Abolishes regulation of alternative splicing. 1 Publication1
Mutagenesisi376Y → A: Impairs interaction with SF3B1, SF1 and U2AF2. Abolishes regulation of alternative splicing. 1 Publication1
Mutagenesisi377F → A: Impairs interaction with SF1 and U2AF2 and abolishes interaction with SF3B1. Abolishes regulation of alternative splicing. 1 Publication1

Organism-specific databases

DisGeNETi84991.
OpenTargetsiENSG00000134453.
PharmGKBiPA134860993.

Polymorphism and mutation databases

BioMutaiRBM17.
DMDMi34925383.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000819032 – 401Splicing factor 45Add BLAST400

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Modified residuei2PhosphoserineCombined sources1
Modified residuei21N6-acetyllysineCombined sources1
Modified residuei41N6-acetyllysineBy similarity1
Modified residuei71PhosphothreonineCombined sources1
Modified residuei155PhosphoserineCombined sources1
Modified residuei169PhosphoserineCombined sources1
Modified residuei222PhosphoserineCombined sources1
Modified residuei237PhosphothreonineCombined sources1
Modified residuei266PhosphoserineCombined sources1
Modified residuei291PhosphoserineCombined sources1
Modified residuei293PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96I25.
MaxQBiQ96I25.
PaxDbiQ96I25.
PeptideAtlasiQ96I25.
PRIDEiQ96I25.

PTM databases

iPTMnetiQ96I25.
PhosphoSitePlusiQ96I25.

Expressioni

Gene expression databases

BgeeiENSG00000134453.
CleanExiHS_RBM17.
ExpressionAtlasiQ96I25. baseline and differential.
GenevisibleiQ96I25. HS.

Organism-specific databases

HPAiHPA037477.
HPA037478.

Interactioni

Subunit structurei

Binds SXL. Associates with the spliceosome. Interacts with SF3B1, SF1 and U2AF2.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CCHCR1Q8TD31-35EBI-740272,EBI-10175300
CEP55D3DR373EBI-740272,EBI-10173536
DHX15O4314311EBI-740272,EBI-1237044
FAM9BQ8IZU03EBI-740272,EBI-10175124
GOLGA2Q083794EBI-740272,EBI-618309
KIAA1683Q9H0B33EBI-740272,EBI-745878
PPP1R12CQ9BZL4-53EBI-740272,EBI-10289057
QRICH1Q2TAL83EBI-740272,EBI-2798044
SATQ6ICU93EBI-740272,EBI-10178867
SAT1P216736EBI-740272,EBI-711613
SF1Q156376EBI-740272,EBI-744603
SF3B1O755332EBI-740272,EBI-876542
SUGP1Q8IWZ82EBI-740272,EBI-2691671

Protein-protein interaction databases

BioGridi124416. 57 interactors.
DIPiDIP-29409N.
IntActiQ96I25. 39 interactors.
MINTiMINT-3053773.
STRINGi9606.ENSP00000369218.

Structurei

Secondary structure

1401
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi305 – 313Combined sources9
Helixi323 – 329Combined sources7
Helixi330 – 333Combined sources4
Beta strandi336 – 343Combined sources8
Turni349 – 351Combined sources3
Beta strandi352 – 361Combined sources10
Helixi362 – 372Combined sources11
Beta strandi383 – 386Combined sources4
Helixi389 – 393Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2PE8X-ray2.00A301-401[»]
2PEHX-ray2.11A/B301-401[»]
ProteinModelPortaliQ96I25.
SMRiQ96I25.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96I25.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini235 – 283G-patchPROSITE-ProRule annotationAdd BLAST49
Domaini306 – 385RRMAdd BLAST80

Sequence similaritiesi

Contains 1 G-patch domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1996. Eukaryota.
ENOG410XWJ5. LUCA.
GeneTreeiENSGT00790000123099.
HOGENOMiHOG000231726.
HOVERGENiHBG059363.
InParanoidiQ96I25.
KOiK12840.
OMAiNEYDPMW.
OrthoDBiEOG091G0I8J.
PhylomeDBiQ96I25.
TreeFamiTF313987.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
InterProiIPR000467. G_patch_dom.
IPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
IPR003954. RRM_dom_euk.
IPR016967. Splicing_factor_SPF45.
[Graphical view]
PfamiPF01585. G-patch. 1 hit.
PF00076. RRM_1. 1 hit.
[Graphical view]
PIRSFiPIRSF031066. Splicing_factor_SPF45. 1 hit.
SMARTiSM00443. G_patch. 1 hit.
SM00361. RRM_1. 1 hit.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 1 hit.
PROSITEiPS50174. G_PATCH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q96I25-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSLYDDLGVE TSDSKTEGWS KNFKLLQSQL QVKKAALTQA KSQRTKQSTV
60 70 80 90 100
LAPVIDLKRG GSSDDRQIVD TPPHVAAGLK DPVPSGFSAG EVLIPLADEY
110 120 130 140 150
DPMFPNDYEK VVKRQREERQ RQRELERQKE IEEREKRRKD RHEASGFARR
160 170 180 190 200
PDPDSDEDED YERERRKRSM GGAAIAPPTS LVEKDKELPR DFPYEEDSRP
210 220 230 240 250
RSQSSKAAIP PPVYEEQDRP RSPTGPSNSF LANMGGTVAH KIMQKYGFRE
260 270 280 290 300
GQGLGKHEQG LSTALSVEKT SKRGGKIIVG DATEKDASKK SDSNPLTEIL
310 320 330 340 350
KCPTKVVLLR NMVGAGEVDE DLEVETKEEC EKYGKVGKCV IFEIPGAPDD
360 370 380 390 400
EAVRIFLEFE RVESAIKAVV DLNGRYFGGR VVKACFYNLD KFRVLDLAEQ

V
Length:401
Mass (Da):44,962
Last modified:December 1, 2001 - v1
Checksum:i99FA8C5E5E998554
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti214Y → H in AAH09064 (PubMed:15489334).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC007871 mRNA. Translation: AAH07871.1.
BC009064 mRNA. Translation: AAH09064.1.
BC039322 mRNA. Translation: AAH39322.1.
CCDSiCCDS7077.1.
RefSeqiNP_001139019.1. NM_001145547.1.
NP_116294.1. NM_032905.4.
UniGeneiHs.498548.

Genome annotation databases

EnsembliENST00000379888; ENSP00000369218; ENSG00000134453.
ENST00000446108; ENSP00000388638; ENSG00000134453.
GeneIDi84991.
KEGGihsa:84991.
UCSCiuc001ijb.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC007871 mRNA. Translation: AAH07871.1.
BC009064 mRNA. Translation: AAH09064.1.
BC039322 mRNA. Translation: AAH39322.1.
CCDSiCCDS7077.1.
RefSeqiNP_001139019.1. NM_001145547.1.
NP_116294.1. NM_032905.4.
UniGeneiHs.498548.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2PE8X-ray2.00A301-401[»]
2PEHX-ray2.11A/B301-401[»]
ProteinModelPortaliQ96I25.
SMRiQ96I25.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124416. 57 interactors.
DIPiDIP-29409N.
IntActiQ96I25. 39 interactors.
MINTiMINT-3053773.
STRINGi9606.ENSP00000369218.

PTM databases

iPTMnetiQ96I25.
PhosphoSitePlusiQ96I25.

Polymorphism and mutation databases

BioMutaiRBM17.
DMDMi34925383.

Proteomic databases

EPDiQ96I25.
MaxQBiQ96I25.
PaxDbiQ96I25.
PeptideAtlasiQ96I25.
PRIDEiQ96I25.

Protocols and materials databases

DNASUi84991.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379888; ENSP00000369218; ENSG00000134453.
ENST00000446108; ENSP00000388638; ENSG00000134453.
GeneIDi84991.
KEGGihsa:84991.
UCSCiuc001ijb.4. human.

Organism-specific databases

CTDi84991.
DisGeNETi84991.
GeneCardsiRBM17.
HGNCiHGNC:16944. RBM17.
HPAiHPA037477.
HPA037478.
MIMi606935. gene.
neXtProtiNX_Q96I25.
OpenTargetsiENSG00000134453.
PharmGKBiPA134860993.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1996. Eukaryota.
ENOG410XWJ5. LUCA.
GeneTreeiENSGT00790000123099.
HOGENOMiHOG000231726.
HOVERGENiHBG059363.
InParanoidiQ96I25.
KOiK12840.
OMAiNEYDPMW.
OrthoDBiEOG091G0I8J.
PhylomeDBiQ96I25.
TreeFamiTF313987.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134453-MONOMER.
ReactomeiR-HSA-72163. mRNA Splicing - Major Pathway.

Miscellaneous databases

ChiTaRSiRBM17. human.
EvolutionaryTraceiQ96I25.
GeneWikiiRBM17.
GenomeRNAii84991.
PROiQ96I25.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134453.
CleanExiHS_RBM17.
ExpressionAtlasiQ96I25. baseline and differential.
GenevisibleiQ96I25. HS.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
InterProiIPR000467. G_patch_dom.
IPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
IPR003954. RRM_dom_euk.
IPR016967. Splicing_factor_SPF45.
[Graphical view]
PfamiPF01585. G-patch. 1 hit.
PF00076. RRM_1. 1 hit.
[Graphical view]
PIRSFiPIRSF031066. Splicing_factor_SPF45. 1 hit.
SMARTiSM00443. G_patch. 1 hit.
SM00361. RRM_1. 1 hit.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 1 hit.
PROSITEiPS50174. G_PATCH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSPF45_HUMAN
AccessioniPrimary (citable) accession number: Q96I25
Secondary accession number(s): Q96GY6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 141 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.