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RBM45 Gene

protein-coding   GIFtS: 47
GCID: GC02P178977

RNA Binding Motif Protein 45

  Search for RBM45
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RNA Binding Motif Protein 451 2     Developmentally Regulated RNA Binding Protein 11
Developmentally-Regulated RNA-Binding Protein 12 3     Developmentally Regulated RNA-Binding Protein 12
DRB12 3     Putative RNA Binding Protein RB-12
RB-12 3     RNA-Binding Protein 452
RNA-Binding Motif Protein 452 3     DRBP13

External Ids:    HGNC: 244681   Entrez Gene: 1298312   Ensembl: ENSG000001556367   OMIM: 6088885   UniProtKB: Q8IUH33   

Export aliases for RBM45 gene to outside databases

Previous GC identifers: GC02P178686 GC02P170847


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RBM45 Gene:
RBM45 (RNA binding motif protein 45) is a protein-coding gene. GO annotations related to this gene include RNA binding and nucleotide binding.

UniProtKB/Swiss-Prot: RBM45_HUMAN, Q8IUH3
Function: RNA-binding protein with binding specificity for poly(C). May play an important role in neural
development




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBM45 gene promoter:
         FOXF2   Pax-2   Pax-2a   C/EBPalpha   PPAR-gamma1   HOXA5   Sox9   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBM45 promoter sequence
   Search Chromatin IP Primers for RBM45

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBM45


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q31.2   Ensembl cytogenetic band:  2q31.2   HGNC cytogenetic band: 2q31.2

RBM45 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBM45 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P178977:  view genomic region     (about GC identifiers)

Start:
178,977,151 bp from pter      End:
179,003,738 bp from pter
Size:
26,588 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RBM45_HUMAN, Q8IUH3 (See protein sequence)
Recommended Name: RNA-binding protein 45  
Size: 476 amino acids; 53502 Da
Secondary accessions: Q6NYL0 Q8NFC9
Alternative splicing: 3 isoforms:  Q8IUH3-1   Q8IUH3-2   Q8IUH3-3   (May be due to an intron retention)

Explore the universe of human proteins at neXtProt for RBM45: NX_Q8IUH3

Explore proteomics data for RBM45 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RBM45 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_694453.2  
    ENSEMBL proteins: 
     ENSP00000286070   ENSP00000415940   ENSP00000389134  

    RBM45 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for RBM45 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    2 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q8IUH3

    ProtoNet protein and cluster: Q8IUH3

    UniProtKB/Swiss-Prot: RBM45_HUMAN, Q8IUH3
    Similarity: Contains 3 RRM (RNA recognition motif) domains


    Find genes that share domains with RBM45           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBM45_HUMAN, Q8IUH3
    Function: RNA-binding protein with binding specificity for poly(C). May play an important role in neural
    development

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IDA12220514
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with RBM45           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RBM45:
     Increased gamma-H2AX phosphory  Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBM45
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    Predesigned siRNA for gene silencing in human, mouse, rat RBM45

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: RBM45 (NM_152945)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBM45

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RBM45_HUMAN, Q8IUH3: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. May shuttle between cytoplasm and
    nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA12220514

    Find genes that share ontologies with RBM45           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RBM45
    Interactions:

        Search GeneGlobe Interaction Network for RBM45

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for RBM45 (Q8IUH32, 3 ENSP000002860704) via UniProtKB, MINT, STRING, and/or I2D (see all 793)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    ELAVL1Q157172, ENSP000003852694MINT-7945693 MINT-7947479 STRING: ENSP00000385269
    SNW1Q135732, ENSP000002615314MINT-7945693 MINT-7947479 STRING: ENSP00000261531
    KEAP1Q141453, ENSP000001711114I2D: score=2 STRING: ENSP00000171111
    USP21Q9UK803, ENSP000002898654I2D: score=2 STRING: ENSP00000289865
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399nervous system development ISS--
    GO:0030154cell differentiation IEA--

    Find genes that share ontologies with RBM45           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RBM45



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RBM45 gene: 
    NM_152945.2  

    Unigene Cluster for RBM45:

    RNA binding motif protein 45
    Hs.377257  [show with all ESTs]
    Unigene Representative Sequence: AF526533
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000424000 ENST00000286070(uc002ulv.3) ENST00000493048 ENST00000455903
    ENST00000424099 ENST00000464647
    miRNA
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    Block miRNA regulation of human, mouse, rat RBM45 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidRBM45 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RBM45
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat RBM45
      QuantiFast Probe-based Assays in human, mouse, rat RBM45

    Additional mRNA sequence: 

    AB036991.1 AF526533.1 AK126575.1 BC066549.1 

    6 DOTS entries:

    DT.109571  DT.100033637  DT.95348199  DT.100660198  DT.439356  DT.75196212 

    Selected AceView cDNA sequences (see all 84):

    AI367772 BE732027 NM_152945 AA767623 AF526533 CB250468 BE220640 AL042917 
    BE855816 CR624151 AV660729 AV660509 N39733 BI827472 BX282352 BE466172 
    AI471723 Z41207 AW952421 CB321931 BM668266 BC066549 CB242689 BM692945 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for RBM45    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8
    SP1:                                      -                           
    SP2:                                                                  
    SP3:                                      -                           


    ECgene alternative splicing isoforms for RBM45

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RBM45 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTTTTGAA
    RBM45 Expression
    About this image


    RBM45 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    RBM45 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBM45 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.377257
        Custom PCR Arrays for RBM45
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBM45

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RBM45 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbm451 , 5 RNA binding motif protein 451, 5 86.36(n)1
    90.51(a)1
      2 (44.94 cM)5
    2414901  NM_153405.21  NP_700454.11 
     763699845 
    chicken
    (Gallus gallus)
    Aves RBM451 RNA binding motif protein 45 74.79(n)
    71.58(a)
      424132  NM_001031252.1  NP_001026423.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    49(a)
    44(a)
    many → 1
    many → 1
    GL343320.1(1441695-1452914)
    GL343320.1(1319584-1334806)
    African clawed frog
    (Xenopus laevis)
    Amphibia drbp1-pending-prov2 developmentally regulated RNA binding protein 1 75.42(n)    BC045039.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rbm451 RNA binding motif protein 45 62.97(n)
    64.3(a)
      568524  NM_001127402.1  NP_001120874.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG13161 CG1316 49.57(n)
    40.71(a)
      38526  NM_139630.3  NP_647887.1 


    ENSEMBL Gene Tree for RBM45 (if available)
    TreeFam Gene Tree for RBM45 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RBM45 (see all 358)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1397131401,2
    --178975245(+) TCAGTA/TTAACA 1 -- us2k10--------
    rs1148753461,2
    C,F--178975333(+) TCCTGC/TGTAGC 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs779650561,2
    C,F--178975334(+) CCTGCG/ATAGCT 1 -- us2k12Minor allele frequency- A:0.07WA NA 238
    rs1906667081,2
    --178975397(+) CTATTA/TAGTAG 1 -- us2k10--------
    rs752170151,2
    C,F--178975554(+) TGGGGG/CAAAAC 1 -- us2k13Minor allele frequency- C:0.09CSA WA NA 240
    rs1497704801,2
    --178975592(+) CCTCAC/TTATAT 1 -- us2k10--------
    rs1456517781,2
    --178975604(+) TCTAGC/TTCCTG 1 -- us2k10--------
    rs1153037891,2
    F--178975630(+) CACAGT/CTGGAG 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1393904701,2
    C--178975637(+) GGAGTA/GCAATA 1 -- us2k10--------
    rs1441329381,2
    --178975638(+) GAGTAC/TAATAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RBM45 (178977151 - 179003738 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RBM45:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv518790CNV Gain19592680
    nsv875452CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBM45
    DNA2.0 Custom Variant and Variant Library Synthesis for RBM45

    (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.)
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    OMIM gene information: 608888    OMIM disorders: --


    Find genes that share disorders with RBM45           About GenesLikeMe


    Export disorders for RBM45 gene to outside databases

    (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)
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    PubMed articles for RBM45 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with RBM45)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and characterization of Drb1, a new member of RRM-type neural RNA-binding protein. (PubMed id 12220514)1, 2, 3, 9 Tamada H.... Endo H. (Biochem. Biophys. Res. Commun. 2002)
    2. 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. (Genome Res. 2004)
    3. The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients. (PubMed id 22993125)1 Collins M....Bowser R. (Acta Neuropathol. 2012)
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    6. Defining the human deubiquitinating enzyme interaction landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (Cell 2009)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 129831 HGNC: 24468 AceView: DRB1 Ensembl:ENSG00000155636 euGenes: HUgn129831
    ECgene: RBM45 H-InvDB: RBM45

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RBM45 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RBM45 gene:
    Search GeneIP for patents involving RBM45

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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