RBM17 Gene
protein-coding GIFtS: 52
GCID: GC10P006130
|
|
RNA binding motif protein 17
| |
Aliases for RBM17 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| RNA Binding Motif Protein 171 2 | | MGC144391 | | SPF451 2 3 5 | | Splicing Factor 452 | | 45 KDa-Splicing Factor2 3 | | Splicing Factor 45kDa2 | | RNA-Binding Motif Protein 172 3 | | |
Export aliases for RBM17 gene to outside databasesPrevious GC identifers: GC10P006135 GC10P006171 GC10P006057 |
Summaries for RBM17 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for RBM17: This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in thesecond catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Relatedpseudogenes exist on chromosomes 9 and 15. (provided by RefSeq, Mar 2009) UniProtKB/Swiss-Prot: SPF45_HUMAN, Q96I25Function: Splice factor that binds to the single stranded 3'AG at the exon/intron border and promotes its utilizationin the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splicesites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. Theresulting frameshift leads to sickle cell anemia Gene Wiki entry for RBM17
|
Genomic Views for RBM17 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_008705.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the RBM17 gene promoter: AML1a p53 ITF-2 Tal-1beta GATA-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for RBM17
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBM17 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10p15.1 Ensembl cytogenetic band: 10p15.1 HGNC cytogenetic band: 10p15.1RBM17 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P006130: view genomic region
(about GC identifiers)
Start:
|
6,130,949 bp from pter |
End:
|
6,159,422 bp from pter |
Size:
|
28,474 bases |
Orientation:
|
plus strand |
|
Proteins for RBM17 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: SPF45_HUMAN, Q96I25 (See
protein sequence)Recommended Name: Splicing factor 45 Size: 401 amino acids; 44962 Da
Subunit: Binds SXL. Associates with the spliceosome
Subcellular location: Nucleus
2 PDB 3D structures from and Proteopedia for RBM17:2PE8 (3D)
  2PEH (3D)
 
Secondary accessions: Q96GY6Explore the universe of human proteins at neXtProt for RBM17: NX_Q96I25
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96I25 RBM17 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001139019.1 NP_116294.1 ENSEMBL proteins: ENSP00000369218 ENSP00000395448 ENSP00000408214 ENSP00000402303 ENSP00000406024 ENSP00000388638 Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
RBM17 for ontologies About GeneDecksing
RBM17 Antibody Products: Assay Products for RBM17: |
Protein
Domains / Families for RBM17 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RBM17 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96I25ProtoNet protein and cluster: Q96I25 2 Blocks protein families: IPB000467 D111/G-patch domain IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
UniProtKB/Swiss-Prot: SPF45_HUMAN, Q96I25Similarity: Contains 1 G-patch domainSimilarity: Contains 1 RRM (RNA recognition motif) domain |
Function for RBM17 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: SPF45_HUMAN, Q96I25Function: Splice factor that binds to the single stranded 3'AG at the exon/intron border and promotes its utilizationin the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splicesites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. Theresulting frameshift leads to sickle cell anemia
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RBM17 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RBM17 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBM17 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
RBM17 for ontologies About GeneDecksing
6 GenomeRNAi human phenotypes for RBM17:
|
Pathways & Interactions for RBM17 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | mRNA Splicing - Major Pathway | |
Pathway sources See GeneCards unified pathways Show all pathways
1 BioSystems Pathway for RBM17 
1
Kegg Pathway (Kegg details for RBM17):
RBM17 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RBM17
STRING Interaction
Network Preview (showing 5 interactants - click image to see 16)
 5/749 Interacting proteins for RBM17 (Q96I252, 3 ENSP000003692184) via UniProtKB, MINT, STRING, and/or I2D (see all 749)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
RBM17 for ontologies About GeneDecksing
|
Drugs & Compounds for RBM17 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for RBM17 Search CenterWatch for drugs/clinical trials and news about RBM17 / SPF45 
|
Transcripts for RBM17 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for RBM17 gene (2 alternative transcripts): NM_001145547.1 NM_032905.4 Unigene Cluster for RBM17: RNA binding motif protein 17 Hs.498548 [show with all ESTs]Unigene Representative Sequence: BX64828812 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000379888 ENST00000437845 ENST00000432931 ENST00000418631 ENST00000467214 ENST00000447032 ENST00000481147 ENST00000476706 ENST00000465906 ENST00000467080 ENST00000496762 ENST00000446108(uc001ijb.3 uc010qav.2 uc001ijc.3)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RBM17 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RBM17 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Additional cDNA sequence: AF542550.1 AK021863.1 AK314952.1 BC007871.2 BC009064.1 BC039322.1 BX648288.1 20 DOTS entries: DT.100030031 DT.101982022 DT.100824415 DT.91738481 DT.121254683 DT.100824416 DT.100824421 DT.100030029 DT.97765011 DT.99975865 DT.100824418 DT.100824419 DT.75133917 DT.95204042 DT.100030034 DT.100726833 DT.100824408 DT.121254668 DT.95321889 DT.121020160 24/389 AceView cDNA sequences (see all 389): AA551760 BQ775889 BQ022603 BF996230 BE251996 AF542550 BU677307 AI373055 AI739391 CR592607 CN480845 BE327939 AA292080 AW964210 BQ879597 CK905879 CR592385 BX463225 AA631250 AA194695 BM756857 BQ070511 BM662554 BQ649846 GeneLoc Exon Structure
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for RBM17 (see all 13) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | · | |
| SP1: | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | - |   | - |   | |   | |   | - |   | - |   | - |   | - |   | |   | - |   | - |   | |   | - |   | |   | |
| SP2: | |   | |   | - |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | - |   | - |   | |   | |   | - |   | - |   | - |   | - |   | |   | - |   | - |   | |   | - |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | |   | - |   | - |   | |   | - |   | |   |
| ExUns: | 13c | · | 13d | ^ | 14 | |
| SP1: | |   | - |   | |   | |
| SP2: | |   | - |   | |   | |
| SP3: | |   | |   | |   | |
| SP4: | |   | |   | |   | |
| SP5: | |   | |   | |   |
ECgene alternative splicing isoforms for RBM17
|
Expression for RBM17 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RBM17 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See RBM17 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for RBM17
SOURCE GeneReport for Unigene cluster: Hs.498548 SABiosciences Custom PCR Arrays for RBM17
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RBM17 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RBM17 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RBM17 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RBM17 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBM17 |
Orthologs for RBM17 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for RBM17 gene from 9/29 species (see all 29) About this table
ENSEMBL Gene Tree for RBM17 (if available) TreeFam Gene Tree for RBM17 (if available)  |
Paralogs for RBM17 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for RBM17 gene
RBM17 for paralogs About GeneDecksing
4 Pseudogenes.org Pseudogenes for RBM17 PGOHUM00000246747 PGOHUM00000236092 PGOHUM00000236464 PGOHUM00000236474
|
Genomic Variants for RBM17 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 10 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for RBM17 (6130949 - 6159422 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for RBM17 1 CNV: 48007 1 Indel: 58455  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RBM17 |
|
Disorders
/ Diseases for RBM17 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RBM17 for disorders About GeneDecksing
OMIM gene information: 606935
OMIM disorders: --
7 diseases for RBM17: About MalaCardssickle cell anemia spinocerebellar ataxia vitiligo anemia alzheimer's disease ataxia malaria Human Genome Epidemiology (HuGE) Navigator: RBM17 (2 documents) Export disorders for RBM17 gene to outside databases
|
Publications for RBM17 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for RBM17 gene, integrated from 9 sources (see all 41): (articles sorted by number of sources associating them with RBM17) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex. (PubMed id 9731529)1, 2, 3 Neubauer G.... Mann M. (1998)
- Splicing regulation at the second catalytic step by Sex-lethal involves 3' splice site recognition by SPF45. (PubMed id 12015979)1, 2, 9 Lallena M.J.... Valcarcel J. (2002)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Human splicing factor SPF45 (RBM17) confers broad multidrug resistance to anticancer drugs when overexpressed--a phenotype partially reversed by selective estrogen receptor modulators. (PubMed id 16061639)1, 9 Perry W.L....Dantzig A.H. (2005)
- Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
- Mitogen-activated protein kinase phosphorylation of sp licing factor 45 (SPF45) regulates SPF45 alternative splicing site utilization, proliferation, and cell adhesion. (PubMed id 22615491)1 Al-Ayoubi A.M....Eblen S.T. (2012)
- Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
- An important role for CDK2 in G1 to S checkpoint activation and DNA damage response in human embryonic stem cells. (PubMed id 21319273)1 Neganova I....Lako M. (2011)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
|
External Searches for RBM17 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing RBM17 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RBM17 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RBM17 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for RBM17 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for RBM17 gene: Search GeneIP for patents involving RBM17
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for RBM17 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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