RBPMS Gene (Protein Coding)

RNA Binding Protein, MRNA Processing Factor

GC08P030361
GIFtS:
41
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 sin... See more...

Aliases for RBPMS Gene

Aliases for RBPMS Gene

  • RNA Binding Protein, MRNA Processing Factor 2 3 5
  • HERMES 2 3 4
  • RNA Binding Protein With Multiple Splicing 2 3
  • RNA-Binding Protein With Multiple Splicing 3 4
  • Heart And RRM Expressed Sequence 3 4
  • RBP-MS 4
  • Hermes 4
  • RBPMS 5

External Ids for RBPMS Gene

Previous GeneCards Identifiers for RBPMS Gene

  • GC08P030157
  • GC08P030693
  • GC08P030299
  • GC08P030242
  • GC08P028786

Summaries for RBPMS Gene

Entrez Gene Summary for RBPMS Gene

  • 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]

GeneCards Summary for RBPMS Gene

RBPMS (RNA Binding Protein, MRNA Processing Factor) is a Protein Coding gene. Diseases associated with RBPMS include Hordeolum and Optic Nerve Hypoplasia, Bilateral. Among its related pathways are Diurnally Regulated Genes with Circadian Orthologs. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBPMS2.

UniProtKB/Swiss-Prot Summary for RBPMS Gene

  • 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 (PubMed:26347403). Binds to poly(A) RNA (PubMed:17099224, PubMed:26347403).

Gene Wiki entry for RBPMS Gene

Additional gene information for RBPMS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBPMS Gene

Genomics for RBPMS Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RBPMS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBPMS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBPMS

Top Transcription factor binding sites by QIAGEN in the RBPMS gene promoter:
  • ATF
  • ATF-2
  • C/EBPalpha
  • COMP1
  • CRE-BP1
  • FOXD1
  • FOXF2
  • Hlf
  • IRF-1
  • Max1

Genomic Locations for RBPMS Gene

Latest Assembly
chr8:30,384,511-30,572,261
(GRCh38/hg38)
Size:
187,751 bases
Orientation:
Plus strand

Previous Assembly
chr8:30,242,057-30,429,773
(GRCh37/hg19 by Entrez Gene)
Size:
187,717 bases
Orientation:
Plus strand

chr8:30,241,944-30,429,778
(GRCh37/hg19 by Ensembl)
Size:
187,835 bases
Orientation:
Plus strand

Genomic View for RBPMS Gene

Genes around RBPMS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBPMS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBPMS Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RBPMS Gene

Proteins for RBPMS Gene

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  2. Protein products for research
  3. Assay products for research

  • Protein details for RBPMS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93062-RBPMS_HUMAN
    Recommended name:
    RNA-binding protein with multiple splicing
    Protein Accession:
    Q93062
    Secondary Accessions:
    • D3DSU9
    • Q92516
    • Q92517
    • Q92518
    • Q96J26

    Protein attributes for RBPMS Gene

    Size:
    196 amino acids
    Molecular mass:
    21802 Da
    Quaternary structure:
    • Homodimer; each protein chain binds one RNA molecule via the external surface of the homodimer (PubMed:26347403). Interacts with SMAD2, SMAD3 and SMAD4; the interactions are direct (PubMed:17099224).
    Miscellaneous:
    • [Isoform A]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for RBPMS Gene

    Alternative splice isoforms for RBPMS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBPMS Gene

Protein Expression for RBPMS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RBPMS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBPMS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RBPMS Gene

Domains & Families for RBPMS Gene

Gene Families for RBPMS Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RBPMS Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
ProtoNet:

Suggested Antigen Peptide Sequences for RBPMS Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61582, highly similar to RNA-binding protein with multiple splicing (B4E3T4_HUMAN)
  • RNA binding protein with multiple splicing (Q569H2_HUMAN)
  • Heart and RRM expressed sequence (RBPMS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q93062

UniProtKB/Swiss-Prot:

RBPMS_HUMAN :
  • 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.
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.
genes like me logo Genes that share domains with RBPMS: view

Function for RBPMS Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for RBPMS Gene

UniProtKB/Swiss-Prot 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 (PubMed:26347403). Binds to poly(A) RNA (PubMed:17099224, PubMed:26347403).
GENATLAS Biochemistry:
RNA binding protein gene with multiple transcripts,types 1,2,3,4,5

Phenotypes From GWAS Catalog for RBPMS Gene

Gene Ontology (GO) - Molecular Function for RBPMS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003713 transcription coactivator activity IDA 17099224
GO:0003723 RNA binding IEA,IDA 26347403
GO:0003729 mRNA binding IBA 21873635
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with RBPMS: view
genes like me logo Genes that share phenotypes with RBPMS: view

Animal Models for research

miRNA for RBPMS Gene

miRTarBase miRNAs that target RBPMS

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBPMS

Clone products for research

  • Addgene plasmids for RBPMS

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBPMS Gene

Localization for RBPMS Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBPMS Gene

Nucleus. Cytoplasm. Cytoplasm, P-body. Note=Translocates into cytoplasmic stress granules that probably correspond to P-bodies in response to oxidative stress. {ECO:0000269 PubMed:26347403}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBPMS gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RBPMS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with RBPMS: view

Pathways & Interactions for RBPMS Gene

genes like me logo Genes that share pathways with RBPMS: view

Pathways by source for RBPMS Gene

1 BioSystems pathway for RBPMS Gene

Gene Ontology (GO) - Biological Process for RBPMS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing TAS 8855282
GO:0006979 response to oxidative stress IMP 26347403
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IDA 17099224
GO:0045893 positive regulation of transcription, DNA-templated IEA --
GO:0060391 positive regulation of SMAD protein signal transduction IDA 17099224
genes like me logo Genes that share ontologies with RBPMS: view

No data available for SIGNOR curated interactions for RBPMS Gene

Drugs & Compounds for RBPMS Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for RBPMS Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for RBPMS Gene

4 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBPMS

Clone products for research

  • Addgene plasmids for RBPMS

Alternative Splicing Database (ASD) splice patterns (SP) for RBPMS Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - -
SP5: - -
SP6: -
SP7: -
SP8: - -
SP9: - - - - -
SP10:
SP11: - - - - -
SP12: - -

Relevant External Links for RBPMS Gene

GeneLoc Exon Structure for
RBPMS

Expression for RBPMS Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBPMS Gene

mRNA expression in normal human tissues for RBPMS Gene
mRNA expression by BioGPS for RBPMS GenemRNA expression by GTEx for RBPMS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RBPMS Gene

This gene is overexpressed in Artery - Tibial (x4.4), Esophagus - Gastroesophageal Junction (x4.3), and Esophagus - Muscularis (x4.3).

Protein differential expression in normal tissues from HIPED for RBPMS Gene

This gene is overexpressed in Salivary gland (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBPMS Gene



Protein tissue co-expression partners for RBPMS Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBPMS

SOURCE GeneReport for Unigene cluster for RBPMS Gene:

Hs.334587

mRNA Expression by UniProt/SwissProt for RBPMS Gene:

Q93062-RBPMS_HUMAN
Tissue specificity: Ubiquitously expressed, at various levels depending on the isoform and the tissue.

Evidence on tissue expression from TISSUES for RBPMS Gene

  • Eye(3.1)
  • Heart(2.9)
  • Muscle(2.8)
  • Nervous system(2.5)
  • Intestine(2.4)
  • Skin(2.3)
  • Kidney(2.3)
  • Gall bladder(2.2)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with RBPMS: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RBPMS Gene

Orthologs for RBPMS Gene

This gene was present in the common ancestor of animals.

Orthologs for RBPMS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia RBPMS 30 31
  • 99.7 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia RBPMS 30 31
  • 97.87 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia RBPMS 30 31
  • 96.35 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Rbpms 30
  • 95.28 (n)
Mouse
(Mus musculus)
 Mammalia Rbpms 30 17 31
  • 94.98 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia RBPMS 31
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves RBPMS 30 31
  • 79.19 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia RBPMS 31
  • 84 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia rbpms 30
  • 80.95 (n)
Zebrafish
(Danio rerio)
 Actinopterygii RBPMS 31
  • 63 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta cpo 31 32
  • 14 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea mec-8 31
  • 25 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.9310 31
  • 23 (a)
 OneToMany
Species where no ortholog for RBPMS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RBPMS Gene

ENSEMBL:
Gene Tree for RBPMS (if available)
TreeFam:
Gene Tree for RBPMS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBPMS: view image

Paralogs for RBPMS Gene

Paralogs for RBPMS Gene

(1) SIMAP similar genes for RBPMS Gene using alignment to 9 proteins:

  • RBPMS_HUMAN
  • B4E3T4_HUMAN
  • E5RFP4_HUMAN
  • E5RJ31_HUMAN
  • E5RJD7_HUMAN
  • F5H357_HUMAN
  • H0YBU9_HUMAN
  • H0YC46_HUMAN
  • Q569H2_HUMAN
genes like me logo Genes that share paralogs with RBPMS: view

Variants for RBPMS Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RBPMS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RBPMS Gene

Variant ID Type Subtype PubMed ID
dgv3802n106 CNV deletion 24896259
esv1086519 CNV deletion 17803354
esv2367432 CNV deletion 18987734
esv2585826 CNV deletion 19546169
esv2657168 CNV deletion 23128226
esv2736831 CNV deletion 23290073
esv3272940 CNV deletion 24192839
esv3543294 CNV deletion 23714750
esv3572665 CNV loss 25503493
esv3616785 CNV loss 21293372
esv3616786 CNV loss 21293372
esv3616787 CNV loss 21293372
esv3616788 CNV loss 21293372
esv4813 CNV loss 18987735
esv6638 CNV loss 19470904
esv988355 CNV deletion 20482838
nsv1076077 CNV deletion 25765185
nsv396470 CNV deletion 16902084
nsv509260 CNV insertion 20534489
nsv526509 CNV gain 19592680
nsv528908 CNV loss 19592680
nsv957675 CNV deletion 24416366

Variation tolerance for RBPMS Gene

Residual Variation Intolerance Score: 43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBPMS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBPMS

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBPMS Gene

Disorders for RBPMS Gene

MalaCards: The human disease database

(5) MalaCards diseases for RBPMS Gene - From: COP

Disorder Aliases PubMed IDs
hordeolum
  • boil of eyelid
optic nerve hypoplasia, bilateral
  • optic nerve hypoplasia
ocular hypertension
  • hypertension, ocular
retinal ischemia
optic nerve disease
  • disorder of the second nerve
- elite association - COSMIC cancer census association via MalaCards
Search RBPMS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RBPMS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RBPMS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBPMS Gene

Publications for RBPMS Gene

  1. A unique human gene that spans over 230 kb in the human chromosome 8p11-12 and codes multiple family proteins sharing RNA-binding motifs. (PMID: 8855282) Shimamoto A … Furuichi Y (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 23
  2. Conserved binding of GCAC motifs by MEC-8, couch potato, and the RBPMS protein family. (PMID: 28003515) Soufari H … Mackereth CD (RNA (New York, N.Y.) 2017) 2 3
  3. Structural basis underlying CAC RNA recognition by the RRM domain of dimeric RNA-binding protein RBPMS. (PMID: 26347403) Teplova M … Patel DJ (Quarterly reviews of biophysics 2016) 3 4
  4. Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs. (PMID: 22174390) Rankinen T … Bouchard C (Journal of applied physiology (Bethesda, Md. : 1985) 2012) 3 41
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

ExternalLinks

View latest publications for RBPMS gene in Mastermind

Products for RBPMS Gene

  • Addgene plasmids for RBPMS

Sources for RBPMS Gene