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RBMXL1 Gene

protein-coding   GIFtS: 41
GCID: GC01M089446

RNA Binding Motif Protein, X-Linked-Like 1

  See related diseases
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, X-Linked-Like 11 2
Heterogeneous Nuclear Ribonucleoprotein G-Like 12 3
Kynurenine Aminotransferase III1
RBM12
RNA Binding Motif Protein, X-Linked-Like-12

External Ids:    HGNC: 250731   Entrez Gene: 4941152   Ensembl: ENSG000002135167   UniProtKB: Q96E393   

Export aliases for RBMXL1 gene to outside databases

Previous GC identifers: GC01M089116 GC01M089218 GC00U930610 GC01M087562


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RBMXL1 Gene:
This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X.
While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact
and there is specific evidence for transcription at this location. The preservation of the ORF by purifying
selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly
during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene
shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences
are non-overlapping. Alternative splicing results in two transcript variants. (provided by RefSeq, Jun 2009)

GeneCards Summary for RBMXL1 Gene:
RBMXL1 (RNA binding motif protein, X-linked-like 1) is a protein-coding gene. Diseases associated with RBMXL1 include huntington's disease, and schizophrenia. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is RBMY1J.

UniProtKB/Swiss-Prot: RMXL1_HUMAN, Q96E39
Function: RNA-binding protein which may be involved in pre-mRNA splicing (By similarity)




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for RBMXL1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for RBMXL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBMXL1


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

Entrez Gene cytogenetic band: 1p22.2   Ensembl cytogenetic band:  1p22.2   HGNC cytogenetic band: 1p22.2

RBMXL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBMXL1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M089446:  view genomic region     (about GC identifiers)

Start:
89,445,139 bp from pter      End:
89,458,643 bp from pter
Size:
13,505 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RMXL1_HUMAN, Q96E39 (See protein sequence)
Recommended Name: RNA binding motif protein, X-linked-like-1  
Size: 390 amino acids; 42142 Da
Miscellaneous: According to some authors, RBMXL1 is a RBMX retrogene on chromosome X which is likely to be
functional (PubMed:16201836)
Caution: The first non-coding exon of RBMXL1 is in common with that of CCBL2

Explore the universe of human proteins at neXtProt for RBMXL1: NX_Q96E39

Explore proteomics data for RBMXL1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys9, Lys63, Lys217
  • Modification sites at PhosphoSitePlus

  • See RBMXL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001156008.1  NP_062556.2  

    ENSEMBL proteins: 
     ENSP00000318415   ENSP00000446099  

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    (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

    3 InterPro protein domains:
     IPR012604 RBM1CTR
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q96E39

    ProtoNet protein and cluster: Q96E39

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB012604 RBM1CTR


    UniProtKB/Swiss-Prot: RMXL1_HUMAN, Q96E39
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    RBMXL1 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RMXL1_HUMAN, Q96E39
    Function: RNA-binding protein which may be involved in pre-mRNA splicing (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
         
    RBMXL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RBMXL1:
     Increased gamma-H2AX phosphory 

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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
    RMXL1_HUMAN, Q96E39: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus5
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0030529ribonucleoprotein complex IEA--

    RBMXL1 for ontologies           About GeneDecksing


    (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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    SuperPaths for RBMXL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for RBMXL1):
        Spliceosome


    RBMXL1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RBMXL1
    Interactions:

        Search GeneGlobe Interaction Network for RBMXL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RBMXL1 (Q96E393 ENSP000003184154) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP2R2BQ000053, ENSP000003365914I2D: score=1 STRING: ENSP00000336591
    YWHAEP622583I2D: score=1 
    SF3A2ENSP000002214944STRING: ENSP00000221494
    USP45ENSP000003333764STRING: ENSP00000333376
    KHDRBS2ENSP000002811564STRING: ENSP00000281156
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing IEA--
    GO:0008380RNA splicing IEA--

    RBMXL1 for ontologies           About GeneDecksing



    (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
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    Browse Tocris compounds for RBMXL1 (RMXL1)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RBMXL1 gene (2 alternative transcripts): 
    NM_001162536.2  NM_019610.5  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321792 ENST00000413769 ENST00000399794(uc009wcx.3 uc001dms.3)

    miRNA
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    GeneLoc Exon Structure


    (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 Genevestigator, and/or 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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    RBMXL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RBMXL1 Expression
    About this image

    RBMXL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBMXL1 Protein Expression

    Genevestigator expression for RBMXL1
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    In Situ
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    (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 RBMXL1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbmxl15 RNA binding motif protein, X linked-like-1   --   8 (37.04 cM) 78505271 
    chicken
    (Gallus gallus)
    Aves RBMX6
    Gallus gallus RNA binding motif protein, X-linked ...
    89(a)
    1 → many
    4(4390057-4400409)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    88(a)
    1 → many
    GL343562.1(327293-337930)
    zebrafish
    (Danio rerio)
    Actinopterygii rbmx6
    RNA binding motif protein, X-linked
    72(a)
    1 → many
    14(32725471-32732600) ENSDARG00000014244
    fruit fly
    (Drosophila melanogaster)
    Insecta tra26
    transformer 2
    20(a)
    1 → many
    2R(10489509-10491857)
    worm
    (Caenorhabditis elegans)
    Secernentea rsp-86
    Protein RSP-8, isoform a
    23(a)
    1 → many
    III(11826215-11831475) WBGene00004705


    ENSEMBL Gene Tree for RBMXL1 (if available)
    TreeFam Gene Tree for RBMXL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RBMXL1 gene
    RBMY1J2  RBMY1E2  RBMY1F2  TRA2B2  RBMXL22  RBMXL32  RBMY1B2  RBMY1A12  
    CIRBP2  RBM32  RBMX2  TRA2A2  RBMY1D2  
    10 SIMAP similar genes for RBMXL1 using alignment to 1 protein entry:     RMXL1_HUMAN:
    RBMX    RBMXL2    RBMY1D    RBMY1E    RBMY1J    RBMXL3
    RBMY1A1    RBMY1B    RBMY1C    RBMY1F

    RBMXL1 for paralogs           About GeneDecksing



    (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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    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RBMXL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv7403CNV Gain19470904
    dgv68e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for RBMXL1:    About MalaCards
    huntington's disease    schizophrenia


    RBMXL1 for disorders           About GeneDecksing


    Export disorders for RBMXL1 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 RBMXL1 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with RBMXL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Emergence of young human genes after a burst of retroposition in primates. (PubMed id 16201836)1, 2 Marques A.C.... Kaessmann H. (PLoS Biol. 2005)
    2. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    3. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    4. Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia. (PubMed id 19165527)1 Martins-de-Souza D....Turck C.W. (Eur Arch Psychiatry Clin Neurosci 2009)
    5. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    9. Extensive gene traffic on the mammalian X chromosome. (PubMed id 14739461)1 Emerson J.J....Long M. (Science 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 494115 HGNC: 25073 Ensembl:ENSG00000213516 euGenes: HUgn494115 ECgene: RBMXL1 Kegg: 494115
    H-InvDB: RBMXL1

    (According to HUGE)
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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 RBMXL1 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 RBMXL1 gene:
    Search GeneIP for patents involving RBMXL1

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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