RBM17 (RNA binding motif protein 17)

2007-02-01  

Identity

HGNC
LOCATION
10p15.1
LOCUSID
ALIAS
SPF45
FUSION GENES

Other Information

Locus ID:

NCBI: 84991
MIM: 606935
HGNC: 16944
Ensembl: ENSG00000134453

Variants:

dbSNP: 84991
ClinVar: 84991
TCGA: ENSG00000134453
COSMIC: RBM17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134453ENST00000379888Q96I25
ENSG00000134453ENST00000379888Q5W009
ENSG00000134453ENST00000418631Q5W011
ENSG00000134453ENST00000432931Q5W010
ENSG00000134453ENST00000437845Q5W012
ENSG00000134453ENST00000446108Q96I25
ENSG00000134453ENST00000446108Q5W009
ENSG00000134453ENST00000447032H0Y6J6

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
176760412007Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.138
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
175895252007U2AF-homology motif interactions are required for alternative splicing regulation by SPF45.59
226154912012Mitogen-activated protein kinase phosphorylation of splicing factor 45 (SPF45) regulates SPF45 alternative splicing site utilization, proliferation, and cell adhesion.26
21835928201114-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus.24
145781792003Human SPF45, a splicing factor, has limited expression in normal tissues, is overexpressed in many tumors, and can confer a multidrug-resistant phenotype to cells.23
160616392005Human splicing factor SPF45 (RBM17) confers broad multidrug resistance to anticancer drugs when overexpressed--a phenotype partially reversed by selective estrogen receptor modulators.10
248586922014Structural basis of the phosphorylation dependent complex formation of neurodegenerative disease protein Ataxin-1 and RBM17.4
310028162019Hypoxia alters splicing of the cancer associated Fas gene.2
302279402018RBM17 controls apoptosis and proliferation to promote Glioma progression.1

Citation

Dessen P

RBM17 (RNA binding motif protein 17)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46514/rbm17