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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RBM44 Gene

protein-coding   GIFtS: 36
GCID: GC02P238707

RNA binding motif protein 44

  Search for RBM44
in our new
 Human Malady Compendium 
Biological research products
for RBM44
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RNA Binding Motif Protein 441 2
RNA-Binding Motif Protein 442 3
FLJ404111
RNA-Binding Protein 442

External Ids:    HGNC: 247561   Entrez Gene: 3753162   Ensembl: ENSG000001774837   UniProtKB: Q6ZP013   

Export aliases for RBM44 gene to outside databases

Previous GC identifers: GC02P238373 GC02P230499


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RBM44_HUMAN, Q6ZP01
Function: Component of intercellular bridges during meiosis. Intercellular bridges are evolutionarily conserved
structures that connect differentiating germ cells. Not required for fertility (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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005120.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBM44 gene promoter:
         TBP   AML1a   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   C/EBPalpha   PPAR-gamma1   TFIID   PPAR-gamma2   En-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for RBM44

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBM44


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

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

RBM44 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBM44 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P238707:  view genomic region     (about GC identifiers)

Start:
238,707,032 bp from pter      End:
238,751,451 bp from pter
Size:
44,420 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RBM44_HUMAN, Q6ZP01 (See protein sequence)
Recommended Name: RNA-binding protein 44  
Size: 1051 amino acids; 117985 Da
Subunit: Homodimer. Interacts with TEX14 (By similarity)
Subcellular location: Cytoplasm (By similarity). Note=Detected in the intercellular bridges (By similarity)
Sequence caution: Sequence=AAI26112.1; Type=Miscellaneous discrepancy; Note=Unlikely splicing event;
Sequence=BAC85324.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A0AUW3

Explore the universe of human proteins at neXtProt for RBM44: NX_Q6ZP01

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6ZP01

  • RBM44 Protein expression data from MOPED and PaxDb:    About this image 
    RBM44 Protein Expression
    REFSEQ proteins: NP_001073973.2  
    ENSEMBL proteins: 
     ENSP00000386727   ENSP00000321179  

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    Uscn Proteins for RBM44

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0045171intercellular bridge ISS--

    RBM44 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RBM44 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q6ZP01

    ProtoNet protein and cluster: Q6ZP01

    1 Blocks protein family: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: RBM44_HUMAN, Q6ZP01
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBM44_HUMAN, Q6ZP01
    Function: Component of intercellular bridges during meiosis. Intercellular bridges are evolutionarily conserved
    structures that connect differentiating germ cells. Not required for fertility (By similarity)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003723RNA binding IEA--
    GO:0005515protein binding ----
    GO:0042803protein homodimerization activity ISS--
         
    RBM44 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rbm44):
     no phenotypic analysis  reproductive system 

    RBM44 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Rbm44tm1.1Zuk for RBM44
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RBM44 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RBM44

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RBM44
    Search CenterWatch for drugs/clinical trials and news about RBM44 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RBM44 gene (2 alternative transcripts): 
    NM_198852.1  NM_001080504.2  

    Unigene Cluster for RBM44:

    RNA binding motif protein 44
    Hs.720233  [show with all ESTs]
    Unigene Representative Sequence: NM_001080504
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000480583(uc002vxi.4) ENST00000444524 ENST00000409864 ENST00000491996
    ENST00000316997

    miRNA
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    hsa-miR-203 hsa-miR-543
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RBM44 (see all 3)
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    Clone
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RBM44

    Additional cDNA sequence: 

    AK097730.1 AK130316.1 BC126111.1 

    4 DOTS entries:

    DT.95316611  DT.40249816  DT.120934342  DT.100721852 

    24/513 AceView cDNA sequences (see all 513):

    BQ897702 BM705407 AA295783 AW082668 AI245192 AI378074 AI266499 AA889883 
    BC001385 AI332352 AI417776 CA944449 AW471142 AW510484 BM795431 AI240103 
    AI393048 AA932789 BF965566 AI039212 BG388321 BE301317 AW132000 BU729127 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RBM44 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CATTTTTTAT
    RBM44 Expression
    About this image
    See RBM44 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.720233
        SABiosciences Custom PCR Arrays for RBM44

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBM44

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for RBM44 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbm441 , 5 RNA binding motif protein 441, 5 72.78(n)1
    57.84(a)1
      1 (46.08 cM)5
    3292071  NM_001033408.41  NP_001028580.11 
     911451035 
    chicken
    (Gallus gallus)
    Aves RBM446
    Uncharacterized protein
    34(a)
    1 ↔ 1
    7(4639482-4641609)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    41(a)
    27(a)
    possible ortholog
    1 ↔ 1
    1(117362648-117367373)
    1(117379088-117381717)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-189g17.26
    si:dkey-189g17.2
    20(a)
    1 ↔ 1
    9(23690321-23706171)


    ENSEMBL Gene Tree for RBM44 (if available)
    TreeFam Gene Tree for RBM44 (if available) 

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/672 NCBI SNPs in RBM44 are shown (see all 672    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1475072011,2
    --238705397(+) AGGATG/TGCATG 1 -- us2k10--------
    rs1166957281,2
    F--238705415(+) TCTTCG/TATGGT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1891595921,2
    --238705420(+) GATGGC/TTTAAA 1 -- us2k10--------
    rs744619961,2
    F--238705502(+) GAAATG/AAGCAT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1931117001,2
    --238705512(+) TTTGGC/GAAATG 1 -- us2k10--------
    rs1165513371,2
    --238705516(+) GCAAAT/AGGCTG 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1149951391,2
    F--238705597(+) TAGAAC/TGTGGT 1 -- us2k11Minor allele frequency- T:0.07NA 120
    rs1400404671,2
    --238705655(+) AGAGCA/CACCCC 1 -- us2k10--------
    rs46637881,2
    C,F--238705819(+) CTGCCG/ATGGCC 1 -- us2k13Minor allele frequency- A:0.18WA NA EA 358
    rs1858097161,2
    --238705856(+) TCCAAC/TAACAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RBM44 (238707032 - 238751451 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RBM44: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for RBM44

    (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.)
    About This Section
      --

    (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)
    About This Section

    PubMed articles for RBM44 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RBM44)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    5. 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. (2004)
    6. 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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 375316 HGNC: 24756 AceView: LRRFIP1andFLJ40411 Ensembl:ENSG00000177483 euGenes: HUgn375316
    ECgene: RBM44 H-InvDB: RBM44

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RBM44 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RBM44 gene:
    Search GeneIP for patents involving RBM44

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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    VWF
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    von Willebrand factor
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