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RBM44 Gene

protein-coding   GIFtS: 35
GCID: GC02P238707

RNA Binding Motif Protein 44

  Search for RBM44
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 441 2
RNA-Binding Motif Protein 442 3
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RBM44 Gene:
RBM44 (RNA binding motif protein 44) is a protein-coding gene. GO annotations related to this gene include RNA binding and nucleotide binding.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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 Chromatin IP Primers for RBM44

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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: 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)
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

Explore proteomics data for RBM44 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RBM44 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001073973.2  
    ENSEMBL proteins: 
     ENSP00000386727   ENSP00000321179  

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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

    2 InterPro protein domains:
     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 domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

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


    RBM44 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: 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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    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:
         MGI mouse knock-out Rbm44tm1.1Zuk for RBM44

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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
    RBM44_HUMAN, Q6ZP01: Cytoplasm (By similarity). Note=Detected in the intercellular bridges (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    cytosol2
    nucleus2
    cytoskeleton1

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

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

    RBM44 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RBM44
    Interactions:

        Search GeneGlobe Interaction Network for RBM44

    (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 RBM44



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

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000480583(uc002vxi.4) ENST00000444524 ENST00000409864 ENST00000491996
    ENST00000316997
    miRNA
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    Selected AceView cDNA sequences (see all 513):

    BM795431 AW080724 AA976587 BM705407 AI338621 AW089780 BU729127 BM982964 
    AI885906 AW510484 AA373121 BG575934 AA336767 AA683562 AA292106 BU191060 
    AA249058 AI924754 AW001646 AA631850 BE772352 AI266499 AW471142 AU099225 

    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 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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    RBM44 expression in normal human tissues (normalized intensities)      RBM44 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTTTTTAT
    RBM44 Expression
    About this image


    RBM44 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Gonad
             XY Germ Cells Testis Cord
     
     Ovary (Reproductive System)
             XX Germ Cells Ovigerous Cord
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    RBM44 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBM44 Protein Expression
        Custom PCR Arrays for RBM44
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RBM44 gene from Selected 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 72.82(n)1
    57.84(a)1
      1 (46.08 cM)5
    3292071  NM_001033408.41  NP_001028580.11 
     911451035 
    chicken
    (Gallus gallus)
    Aves RBM446
    RNA binding motif protein 44
    37(a)
    1 ↔ 1
    7(4603819-4605946)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    39(a)
    35(a)
    many → 1
    many → 1
    1(117379088-117391203)
    1(117362606-117367373)
    zebrafish
    (Danio rerio)
    Actinopterygii RBM446
    RNA binding motif protein 44
    19(a)
    1 ↔ 1
    9(23690321-23706171) ENSDARG00000069758


    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)
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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 RBM44 (see all 864)    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
    C,F--238705502(+) GAAATG/AAGCAT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1931117001,2
    --238705512(+) TTTGGC/GAAATG 1 -- us2k10--------
    rs1165513371,2
    F--238705516(+) GCAAAT/AGGCTG 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1149951391,2
    C,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
         Database of Genomic Variants (DGV) 4 variations for RBM44:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678433CNV Deletion23128226
    esv268050CNV Insertion20981092
    nsv519581CNV Loss19592680
    nsv516443CNV Gain+Loss19592680

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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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      --

    (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 RBM44 gene integrated from 10 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. (Nat. Genet. 2004)
    2. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 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. (Genome Res. 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. (Nature 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 375316 HGNC: 24756 AceView: LRRFIP1andFLJ40411 Ensembl:ENSG00000177483 euGenes: HUgn375316
    ECgene: RBM44 H-InvDB: RBM44

    (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 RBM44 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 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, 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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