Human Gene RBPMS (ENST00000397323.9) from GENCODE V44
  Description: Homo sapiens RNA binding protein, mRNA processing factor (RBPMS), transcript variant 1, mRNA. (from RefSeq NM_001008710)
RefSeq Summary (NM_001008710): This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013].
Gencode Transcript: ENST00000397323.9
Gencode Gene: ENSG00000157110.16
Transcript (Including UTRs)
   Position: hg38 chr8:30,384,541-30,572,256 Size: 187,716 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr8:30,385,093-30,558,949 Size: 173,857 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:30,384,541-30,572,256)mRNA (may differ from genome)Protein (196 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RBPMS_HUMAN
DESCRIPTION: RecName: Full=RNA-binding protein with multiple splicing; Short=RBP-MS; AltName: Full=Heart and RRM expressed sequence; Short=Hermes;
FUNCTION: Acts as a coactivator of transcriptional activity. Required to increase TGFB1/Smad-mediated transactivation. Acts through SMAD2, SMAD3 and SMAD4 to increase transcriptional activity. Increases phosphorylation of SMAD2 and SMAD3 on their C- terminal SSXS motif, possibly through recruitment of TGFBR1. Promotes the nuclear accumulation of SMAD2, SMAD3 and SMAD4 proteins. Binds to poly(A) RNA.
SUBUNIT: Interacts with SMAD2, SMAD3 and SMAD4; the interactions are direct.
INTERACTION: P54253:ATXN1; NbExp=3; IntAct=EBI-740322, EBI-930964; Q96PU8:QKI; NbExp=2; IntAct=EBI-740322, EBI-945792; Q53HV7:SMUG1; NbExp=2; IntAct=EBI-740322, EBI-749970;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
TISSUE SPECIFICITY: Ubiquitously expressed, at various levels depending on the isoform and the tissue.
DOMAIN: The RRM domain is necessary for interaction with SMAD4. Both the RRM domain and the C-terminus are required for TGFB1/Smad-mediated transactivation activity.
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RBPMS
Diseases sorted by gene-association score: colon carcinoma in situ (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 100.48 RPKM in Esophagus - Muscularis
Total median expression: 1229.74 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -200.00552-0.362 Picture PostScript Text
3' UTR -488.501731-0.282 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BNY - Model


ModBase Predicted Comparative 3D Structure on Q93062
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003713 transcription coactivator activity
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008143 poly(A) binding
GO:0030619 U1 snRNA binding
GO:0035614 snRNA stem-loop binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006396 RNA processing
GO:0006979 response to oxidative stress
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0060391 positive regulation of SMAD protein import into nucleus

Cellular Component:
GO:0000932 P-body
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005685 U1 snRNP
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0010494 cytoplasmic stress granule


-  Descriptions from all associated GenBank mRNAs
  AK304858 - Homo sapiens cDNA FLJ61582 complete cds, highly similar to RNA-binding protein with multiple splicing.
D84109 - Homo sapiens mRNA for RBP-MS/type 3, complete cds.
D84107 - Homo sapiens mRNA for RBP-MS/type 1, complete cds.
D84108 - Homo sapiens mRNA for RBP-MS/type 2, complete cds.
D84110 - Homo sapiens mRNA for RBP-MS/type 4, complete cds.
BC003608 - Homo sapiens RNA binding protein with multiple splicing, mRNA (cDNA clone MGC:1257 IMAGE:3505124), complete cds.
BC092476 - Homo sapiens RNA binding protein with multiple splicing, mRNA (cDNA clone MGC:104627 IMAGE:4837343), complete cds.
AB527739 - Synthetic construct DNA, clone: pF1KB6987, Homo sapiens RBPMS gene for RNA binding protein with multiple splicing, without stop codon, in Flexi system.
CU678530 - Synthetic construct Homo sapiens gateway clone IMAGE:100018041 5' read RBPMS mRNA.
KJ893206 - Synthetic construct Homo sapiens clone ccsbBroadEn_02600 RBPMS gene, encodes complete protein.
BC063494 - Homo sapiens RNA binding protein with multiple splicing, mRNA (cDNA clone IMAGE:5404653).
AK310533 - Homo sapiens cDNA, FLJ17575.
D84111 - Homo sapiens mRNA for RBP-MS/type 5, partial cds.
JD405785 - Sequence 386809 from Patent EP1572962.
JD398568 - Sequence 379592 from Patent EP1572962.
JD150665 - Sequence 131689 from Patent EP1572962.
JD133408 - Sequence 114432 from Patent EP1572962.
JD153951 - Sequence 134975 from Patent EP1572962.
JD261324 - Sequence 242348 from Patent EP1572962.
JD163994 - Sequence 145018 from Patent EP1572962.
JD555545 - Sequence 536569 from Patent EP1572962.
JD398493 - Sequence 379517 from Patent EP1572962.
JD399226 - Sequence 380250 from Patent EP1572962.
JD190833 - Sequence 171857 from Patent EP1572962.
JD164254 - Sequence 145278 from Patent EP1572962.
JD556037 - Sequence 537061 from Patent EP1572962.
JD129451 - Sequence 110475 from Patent EP1572962.
JD138574 - Sequence 119598 from Patent EP1572962.
JD438102 - Sequence 419126 from Patent EP1572962.
JD518199 - Sequence 499223 from Patent EP1572962.
JD464096 - Sequence 445120 from Patent EP1572962.
JD405883 - Sequence 386907 from Patent EP1572962.
JD389912 - Sequence 370936 from Patent EP1572962.
KX404992 - Homo sapiens isolate RBPMS_exon_exclusion_F circular RNA circRNA, complete sequence.
AK057533 - Homo sapiens cDNA FLJ32971 fis, clone TESTI2008847.
AK098281 - Homo sapiens cDNA FLJ40962 fis, clone UTERU2011897.
AK124859 - Homo sapiens cDNA FLJ42869 fis, clone BRHIP2022221.
JD306582 - Sequence 287606 from Patent EP1572962.
JD206875 - Sequence 187899 from Patent EP1572962.
AK024192 - Homo sapiens cDNA FLJ14130 fis, clone MAMMA1002618.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DSU9, ENST00000397323.1, ENST00000397323.2, ENST00000397323.3, ENST00000397323.4, ENST00000397323.5, ENST00000397323.6, ENST00000397323.7, ENST00000397323.8, HERMES, NM_001008710, Q92516, Q92517, Q92518, Q93062, Q96J26, RBPMS_HUMAN, uc003xie.1, uc003xie.2, uc003xie.3, uc003xie.4
UCSC ID: ENST00000397323.9
RefSeq Accession: NM_001008710
Protein: Q93062 (aka RBPMS_HUMAN)
CCDS: CCDS6077.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.