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Protein

Splicing factor 45

Gene

RBM17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • DNA repair Source: InterPro
  • mRNA splicing, via spliceosome Source: Reactome
  • regulation of RNA splicing Source: InterPro

Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000134453.15
HGNCiHGNC:16944 RBM17
MIMi606935 gene
neXtProtiNX_Q96I25

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
Cross-linki15Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei21N6-acetyllysineCombined sources1
Cross-linki24Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki33Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei41N6-acetyllysine; alternateBy similarity1
Cross-linki41Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki58Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei71PhosphothreonineCombined sources1
Modified residuei155PhosphoserineCombined sources1
Modified residuei169PhosphoserineCombined sources1
Modified residuei222PhosphoserineCombined sources1
Modified residuei237PhosphothreonineCombined sources1
Cross-linki256Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei266PhosphoserineCombined sources1
Cross-linki276Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei291PhosphoserineCombined sources1
Modified residuei293PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ96I25
MaxQBiQ96I25
PaxDbiQ96I25
PeptideAtlasiQ96I25
PRIDEiQ96I25
ProteomicsDBi76807

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

Show more details

Protein-protein interaction databases

BioGridi124416, 69 interactors
CORUMiQ96I25
DIPiDIP-29409N
IntActiQ96I25, 38 interactors
MINTiQ96I25
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

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

Phylogenomic databases

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

Family and domain databases

CDDicd12647 RRM_UHM_SPF45, 1 hit
Gene3Di3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR000467 G_patch_dom
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
IPR003954 RRM_dom_euk
IPR034653 SPF45_RRM
IPR016967 Splicing_factor_SPF45
PfamiView protein in Pfam
PF01585 G-patch, 1 hit
PF00076 RRM_1, 1 hit
PIRSFiPIRSF031066 Splicing_factor_SPF45, 1 hit
SMARTiView protein in SMART
SM00443 G_patch, 1 hit
SM00361 RRM_1, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
PROSITEiView protein in PROSITE
PS50174 G_PATCH, 1 hit

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

Similar proteinsi

Entry informationi

Entry nameiSPF45_HUMAN
AccessioniPrimary (citable) accession number: Q96I25
Secondary accession number(s): Q96GY6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: December 1, 2001
Last modified: July 18, 2018
This is version 155 of the entry and version 1 of the sequence. See 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

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