Human Gene RBMS3 (uc003cel.3)
  Description: Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.
RefSeq Summary (NM_001003793): This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010].
Transcript (Including UTRs)
   Position: hg19 chr3:29,322,803-30,051,886 Size: 729,084 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr3:29,323,173-30,045,353 Size: 722,181 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:29,322,803-30,051,886)mRNA (may differ from genome)Protein (437 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedTreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: RBMS3_HUMAN
DESCRIPTION: RecName: Full=RNA-binding motif, single-stranded-interacting protein 3;
FUNCTION: Binds poly(A) and poly(U) oligoribonucleotides.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Expressed in fetal brain, fetal lung, fetal liver, heart, brain, placenta, lung, liver, muscle, kidney and pancreas.
SIMILARITY: Contains 2 RRM (RNA recognition motif) domains.
SEQUENCE CAUTION: Sequence=AAC63910.1; Type=Frameshift; Positions=1;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RBMS3
CDC HuGE Published Literature: RBMS3
Positive Disease Associations: Blood Pressure , Bone Density , Bone Mineral Density , Cholesterol , Cholesterol, HDL , Cholesterol, LDL , Diabetes Mellitus , Hypertrophy, Left Ventricular , Lung Neoplasms , Prostatic Neoplasms , smoking cessation , Stroke
Related Studies:
  1. Blood Pressure
    , , . [PubMed 0]
  2. Bone Density
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
  3. Bone Density
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: RBMS3
Diseases sorted by gene-association score: osteonecrosis of the jaw (2)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.01 RPKM in Nerve - Tibial
Total median expression: 179.62 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -106.41370-0.288 Picture PostScript Text
3' UTR -1618.826533-0.248 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
IPR002343 - Hud_Sxl_RNA
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

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

SCOP Domains:
54928 - RNA-binding domain, RBD

ModBase Predicted Comparative 3D Structure on Q6XE24
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0003730 mRNA 3'-UTR binding
GO:0008143 poly(A) binding
GO:0008266 poly(U) RNA binding
GO:0035925 mRNA 3'-UTR AU-rich region binding

Biological Process:
GO:0002357 defense response to tumor cell
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0045727 positive regulation of translation
GO:0090090 negative regulation of canonical Wnt signaling pathway

Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC030290 - Homo sapiens cDNA clone IMAGE:5404304, **** WARNING: chimeric clone ****.
AY236871 - Homo sapiens RNA binding motif single stranded interacting protein 3 isoform transcript variant DD23-L (RBMS3) mRNA, complete cds.
AY236872 - Homo sapiens RNA binding motif single stranded interacting protein 3 isoform transcript variant DD23-S (RBMS3) mRNA, complete cds.
AF023259 - Homo sapiens RNA-binding protein (RBMS3) mRNA, complete cds.
BC143521 - Homo sapiens cDNA clone MGC:177047 IMAGE:9052030, complete cds.
BC117315 - Homo sapiens RNA binding motif, single stranded interacting protein, mRNA (cDNA clone MGC:150924 IMAGE:40125866), complete cds.
AK292789 - Homo sapiens cDNA FLJ77203 complete cds, highly similar to Homo sapiens RNA binding motif, single stranded interacting protein (RBMS3), transcript variant 2, mRNA.
KJ902468 - Synthetic construct Homo sapiens clone ccsbBroadEn_11862 hypothetical protein, encodes complete protein.
AK097311 - Homo sapiens cDNA FLJ39992 fis, clone STOMA2001025, moderately similar to Homo sapiens RNA-binding protein (RBMS3) mRNA.
JD427899 - Sequence 408923 from Patent EP1572962.
JD080318 - Sequence 61342 from Patent EP1572962.
JD239889 - Sequence 220913 from Patent EP1572962.
AK093863 - Homo sapiens cDNA FLJ36544 fis, clone TRACH2006378.

-  Other Names for This Gene
  Alternate Gene Symbols: B7ZL17, NM_001003793, NP_001003793, O75876, Q17RI0, Q6XE23, Q6XE24, RBMS3_HUMAN
UCSC ID: uc003cel.3
RefSeq Accession: NM_001003793
Protein: Q6XE24 (aka RBMS3_HUMAN)
CCDS: CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001003793.2
exon count: 15CDS single in 3' UTR: no RNA size: 8234
ORF size: 1314CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2828.00frame shift in genome: no % Coverage: 99.79
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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