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CELF1 Gene

protein-coding   GIFtS: 59
GCID: GC11M049904

CUGBP, Elav-Like Family Member 1

(Previous names: CUG triplet repeat, RNA-binding protein 1, CUG triplet repeat,...)
(Previous symbol: CUGBP1)
  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
CUGBP, Elav-Like Family Member 11 2     CELF-12 3
CUGBP11 2 3 5     CUG-BP12 3
BRUNOL22 3 5     CUG Triplet Repeat RNA-Binding Protein 12 3
CUGBP2 3 5     CUG-BP- And ETR-3-Like Factor 12 3
NAB502 3 5     EDEN-BP Homolog2 3
CUG Triplet Repeat, RNA Binding Protein 11 2     RNA-Binding Protein BRUNOL-22 3
CUG Triplet Repeat, RNA-Binding Protein 11 2     50-kD1
Bruno-Like 21 2     Nuclear Polyadenylated RNA-Binding Protein1
CUG RNA-Binding Protein1 2     CUG-BP2
Embryo Deadenylation Element Binding Protein1 2     EDEN-BP2
Bruno-Like Protein 22 3     NAPOR2
Deadenylation Factor CUG-BP2 3     CUGBP Elav-Like Family Member 12
Embryo Deadenylation Element-Binding Protein Homolog2 3     hNab502
50 KDa Nuclear Polyadenylated RNA-Binding Protein2 3     Nuclear Polyadenylated RNA-Binding Protein, 50-KD2

External Ids:    HGNC: 25491   Entrez Gene: 106582   Ensembl: ENSG000001491877   OMIM: 6010745   UniProtKB: Q928793   

Export aliases for CELF1 gene to outside databases

Previous GC identifers: GC11M047489 GC11M047187 GC11M047602 GC11M048078 GC11M048801


(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 CELF1 Gene:
Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one
C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of
this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and
translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia
myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding
different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for CELF1 Gene:
CELF1 (CUGBP, Elav-like family member 1) is a protein-coding gene. Diseases associated with CELF1 include myotonic dystrophy, and myotonic dystrophy type 1. GO annotations related to this gene include mRNA binding and RNA binding. An important paralog of this gene is CELF4.

UniProtKB/Swiss-Prot: CELF1_HUMAN, Q92879
Function: RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in
pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in
pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically
activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult
transition. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the
smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Activates SM exon 5
inclusion by antagonizing the repressive effect of PTB. Promotes exclusion of exon 11 of the INSR pre-mRNA.
Inhibits, together with HNRNPH1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Increases
translation and controls the choice of translation initiation codon of CEBPB mRNA. Increases mRNA translation of
CEBPB in aging liver (By similarity). Increases translation of CDKN1A mRNA by antagonizing the repressive effect
of CALR3. Mediates rapid cytoplasmic mRNA deadenylation. Recruits the deadenylase PARN to the poly(A) tail of
EDEN-containing mRNAs to promote their deadenylation. Required for completion of spermatogenesis (By similarity).
Binds to (CUG)n triplet repeats in the 3'-UTR of transcripts such as DMPK and to Bruno response elements (BREs).
Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2
pre-mRNA. Binds to AU-rich sequences (AREs or EDEN-like) localized in the 3'-UTR of JUN and FOS mRNAs. Binds to
the IR RNA. Binds to the 5'-region of CDKN1A and CEBPB mRNAs. Binds with the 5'-region of CEBPB mRNA in aging
liver

Gene Wiki entry for CELF1 (CUGBP1) Gene


(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:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CELF1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CELF1 promoter sequence
   Search Chromatin IP Primers for CELF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CELF1


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

Entrez Gene cytogenetic band: 11p11   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11

CELF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CELF1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M049904:  view genomic region     (about GC identifiers)

Start:
47,487,489 bp from pter      End:
47,587,121 bp from pter
Size:
99,633 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CELF1_HUMAN, Q92879 (See protein sequence)
Recommended Name: CUGBP Elav-like family member 1  
Size: 486 amino acids; 52063 Da
Subunit: Component of an EIF2 complex at least composed of CELF1/CUGBP1, CALR, CALR3, EIF2S1, EIF2S2, HSP90B1 and
HSPA5. Associates with polysomes (By similarity). Interacts with HNRNPH1; the interaction in RNA-dependent.
Interacts with PARN
Sequence caution: Sequence=BAE06101.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for CELF1 (see all 8):
2CPZ (3D)        2DHS (3D)        2RQ4 (3D)        2RQC (3D)        3NMR (3D)        3NNA (3D)    
Secondary accessions: B4E2U5 D3DQS0 F8W940 Q4LE52 Q9NP83 Q9NR06
Alternative splicing: 6 isoforms:  Q92879-1   Q92879-2   Q92879-3   Q92879-4   Q92879-5   Q92879-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CELF1: NX_Q92879

Explore proteomics data for CELF1 at MOPED

Post-translational modifications: 

  • Phosphorylated. Its phosphorylation status increases in senescent cells1
  • Ubiquitination2 at Lys59, Lys166, Lys436
  • Modification sites at PhosphoSitePlus

  • See CELF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001020767.1  NP_001166110.1  NP_001166111.1  NP_006551.1  NP_941989.1  

    ENSEMBL proteins: 
     ENSP00000351409   ENSP00000378706   ENSP00000308386   ENSP00000354639   ENSP00000436864  
     ENSP00000435926   ENSP00000433986   ENSP00000435320   ENSP00000436191   ENSP00000444825  
     ENSP00000438044   ENSP00000435423   ENSP00000442415   ENSP00000438862   ENSP00000378705  

    CELF1 Human Recombinant Protein Products:

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    Novus Biologicals CELF1 Protein
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for CELF1

    CELF1 Antibody Products:

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    Cloud-Clone Corp. CLIAs for CELF1


    (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 Q92879

    ProtoNet protein and cluster: Q92879

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

    UniProtKB/Swiss-Prot: CELF1_HUMAN, Q92879
    Domain: RRM1 and RRM2 domains preferentially target UGU(U/G)-rich mRNA elements
    Similarity: Belongs to the CELF/BRUNOL family
    Similarity: Contains 3 RRM (RNA recognition motif) domains


    CELF1 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: CELF1_HUMAN, Q92879
    Function: RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in
    pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in
    pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically
    activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult
    transition. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the
    smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Activates SM exon 5
    inclusion by antagonizing the repressive effect of PTB. Promotes exclusion of exon 11 of the INSR pre-mRNA.
    Inhibits, together with HNRNPH1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Increases
    translation and controls the choice of translation initiation codon of CEBPB mRNA. Increases mRNA translation of
    CEBPB in aging liver (By similarity). Increases translation of CDKN1A mRNA by antagonizing the repressive effect
    of CALR3. Mediates rapid cytoplasmic mRNA deadenylation. Recruits the deadenylase PARN to the poly(A) tail of
    EDEN-containing mRNAs to promote their deadenylation. Required for completion of spermatogenesis (By similarity).
    Binds to (CUG)n triplet repeats in the 3'-UTR of transcripts such as DMPK and to Bruno response elements (BREs).
    Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2
    pre-mRNA. Binds to AU-rich sequences (AREs or EDEN-like) localized in the 3'-UTR of JUN and FOS mRNAs. Binds to
    the IR RNA. Binds to the 5'-region of CDKN1A and CEBPB mRNAs. Binds with the 5'-region of CEBPB mRNA in aging
    liver
    Induction: Up-regulated in myotonic dystrophy pathophysiology (DM)

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0000900translation repressor activity, nucleic acid binding NAS10893231
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IDA16946708
    GO:0003729mRNA binding IDA14726956
         
    CELF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CELF1:
     Decreased number of cells in m 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Celf1):
     embryogenesis  endocrine/exocrine gland  growth/size/body  mortality/aging  reproductive system 

    CELF1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CELF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CELF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CELF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CELF1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CELF1:
    hsa-mir-1301-3p (MIRT036047), hsa-mir-18a-3p (MIRT040833)

    Block miRNA regulation of human, mouse, rat CELF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CELF1 (see all 144):
    hsa-miR-124* hsa-miR-140-5p hsa-miR-199a-3p hsa-miR-519a hsa-miR-4275 hsa-miR-508-5p hsa-miR-761 hsa-miR-3622a-5p
    SwitchGear 3'UTR luciferase reporter plasmidCELF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CELF1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 5): CELF1 (NM_001025596)
    Sino Biological Human cDNA Clone for CELF1
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CELF1


    (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
    CELF1_HUMAN, Q92879: Nucleus. Cytoplasm. Note=RNA-binding activity is detected in both nuclear and cytoplasmic
    compartments
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS10893231
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0030529ribonucleoprotein complex NAS10893231

    CELF1 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 CELF1 About    
    See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA processing0.44
    2Adipogenesis
    Adipogenesis


    2 BioSystems Pathways for CELF1
        mRNA processing
    Adipogenesis



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CELF1
    Interactions:

        Search GeneGlobe Interaction Network for CELF1

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

    Selected Interacting proteins for CELF1 (Q928792, 3 ENSP000003514094) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FUBP1Q96AE42, 3, ENSP000003598044MINT-65110 I2D: score=5 STRING: ENSP00000359804
    PPBPP027752, 3MINT-65065 I2D: score=5 
    TOM1L1O756742, 3MINT-65064 I2D: score=5 
    HNRNPH1P319432, 3, ENSP000003491684MINT-3089213 I2D: score=1 STRING: ENSP00000349168
    MBNL1Q9NR562, 3, ENSP000002824864MINT-3089352 I2D: score=1 STRING: ENSP00000282486
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006376mRNA splice site selection ISS--
    GO:0006397mRNA processing TAS8948631
    GO:0007281germ cell development NAS10893231
    GO:0007286spermatid development IEA--
    GO:0009790embryo development NAS10893231

    CELF1 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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CELF1

    2 Novoseek inferred chemical compound relationships for CELF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chlordiazepoxide 67.2 18 16836486 (6), 9427761 (4), 15181172 (2)
    adenylate 42.3 3 16601207 (1), 12799066 (1)



    CELF1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CELF1 gene (5 alternative transcripts): 
    NM_001025596.2  NM_001172639.1  NM_001172640.1  NM_006560.3  NM_198700.2  

    Unigene Cluster for CELF1:

    CUGBP, Elav-like family member 1
    Hs.595333  [show with all ESTs]
    Unigene Representative Sequence: NM_001172640
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000358597 ENST00000395292 ENST00000310513 ENST00000361904 ENST00000539455
    ENST00000531165(uc001nfr.1) ENST00000532048 ENST00000524648 ENST00000539254
    ENST00000534614 ENST00000422993 ENST00000532146 ENST00000530151 ENST00000528434
    ENST00000525841 ENST00000543178 ENST00000535982 ENST00000526419
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CELF1 (see all 144):
    hsa-miR-124* hsa-miR-140-5p hsa-miR-199a-3p hsa-miR-519a hsa-miR-4275 hsa-miR-508-5p hsa-miR-761 hsa-miR-3622a-5p
    SwitchGear 3'UTR luciferase reporter plasmidCELF1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 5): CELF1 (NM_001025596)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CELF1
      QuantiFast Probe-based Assays in human, mouse, rat CELF1

    Additional mRNA sequence: 

    AB210019.1 AF267533.1 AF267534.1 AJ007988.1 AK054655.1 AK057016.1 AK304430.1 AK307679.1 
    BC031079.1 U63289.1 

    Selected DOTS entries (see all 45):

    DT.92443522  DT.40256275  DT.95080852  DT.120735737  DT.120735706  DT.97785318  DT.100733058  DT.441853 
    DT.97857015  DT.100027709  DT.95142833  DT.120735694  DT.91688359  DT.92440575  DT.100823704  DT.120735763 
    DT.100823706  DT.120735755  DT.120735822  DT.100737554  DT.120735740  DT.120735730  DT.92440569  DT.92443521 

    Selected AceView cDNA sequences (see all 530):

    U63289 BI917621 BU687229 AA830903 AI089440 BU594740 BM715019 BM874781 
    BU430648 AK056024 BM793193 AW977744 AU124657 BM510632 BC036782 AI370752 
    AW469532 BU174602 BE887659 AA341569 AI018596 AL560590 BQ232859 BU501885 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CELF1 (see all 21)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e · 12f ^ 13 ^ 14 ^
    SP1:                                                                    -           -     -                                                                     
    SP2:                                -     -     -     -     -     -     -     -     -     -                                                                     
    SP3:                                                                                      -                                                                     
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25
    SP1:              -                 -                                         -                                       
    SP2:  -           -                 -                                         -     -     -                           
    SP3:  -           -                 -                                         -     -     -                           
    SP4:              -                 -                                         -     -     -                           
    SP5:              -                 -                                                                                 


    ECgene alternative splicing isoforms for CELF1

    (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)
    About This Section

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    CELF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGGGATTTT
    CELF1 Expression
    About this image


    CELF1 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
    CELF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CELF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.595333

    UniProtKB/Swiss-Prot: CELF1_HUMAN, Q92879
    Tissue specificity: Ubiquitous

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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 eukaryotes.

    Orthologs for CELF1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Celf15 CUGBP, Elav-like family member 1   --   2 (50.44 cM) 90940382 
    chicken
    (Gallus gallus)
    Aves CELF16
    Gallus gallus CUGBP, Elav-like family member 1 (CE...
    96(a)
    1 ↔ 1
    5(22103005-22150651) ENSGALG00000008097
    lizard
    (Anolis carolinensis)
    Reptilia CELF16
    CUGBP, Elav-like family member 1
    96(a)
    1 ↔ 1
    1(44225426-44261465)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.259212 Xenopus laevis embryo deadenylation element binding more 81.24(n)    AF003923.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cugbp12 CUG triplet repeat, RNA-binding protein 1 77.41(n)   58137  BC049453.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta aret6
    bru-26
    bruno-2
    30(a)
    29(a)
    many ↔ many
    many ↔ many
    2L(12175004-12313438)
    2L(12344219-12397528)
    worm
    (Caenorhabditis elegans)
    Secernentea etr-16
    Protein ETR-1, isoform a
    38(a)
    1 → many
    II(162374-170628) WBGene00001340
    rice
    (Oryza sativa)
    Liliopsida Os.336862 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.72(n)    AK099501.1 


    ENSEMBL Gene Tree for CELF1 (if available)
    TreeFam Gene Tree for CELF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CELF1 gene
    CELF42  CELF22  CELF32  CELF62  CELF52  ENSG000002730252  
    Selected SIMAP similar genes for CELF1 using alignment to 10 protein entries:     CELF1_HUMAN (see all proteins) (see all similar genes):
    CELF2    CELF3    RBM4    TNRC4    CELF6    RBM4B
    CELF4    CELF5    DAZAP1    CIRBP    SRSF2    HNRNPA1
    BOLL    RBMX    A1CF    RBMY1J    RBMY1A1    ELAVL2

    CELF1 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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    Selected SNPs for CELF1 (see all 1753)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs11048261,2
    O,A--47487027(-) CCTCAC/TTCTGA 5 -- ds50013Minor allele frequency- T:0.00NA MN 348
    rs110392531,2
    H--47487083(+) AGGGAG/AGAAGA 5 -- ds50014Minor allele frequency- A:0.00NS EA 420
    rs1870646451,2
    --47487094(+) CTGCCA/GGGGCT 5 -- ds50010--------
    rs604968851,2
    C--47487248(+) AGTTT-/TAAGGT 5 -- ds50010--------
    rs1927734011,2
    --47487270(+) ATAAGC/TAGAAA 5 -- ds50010--------
    rs1154622111,2
    C,F--47487291(+) TACAAA/TAAGAT 5 -- ds50011Minor allele frequency- T:0.03WA 118
    rs28686031,2
    C,H--47487337(-) GCTCCT/GGAAGG 5 -- ds500116Minor allele frequency- G:0.00NS EA NA WA CSA 794
    rs1842644171,2
    --47487352(+) GGGGGA/GTTCAG 5 -- ds50010--------
    rs1125501291,2
    C,F--47487398(+) TAGGGC/TACCCA 5 -- ds50012Minor allele frequency- T:0.04CSA WA 120
    rs1120467301,2
    C--47487547(+) AGATAA/CAAAAT 5 -- ut310--------

    HapMap Linkage Disequilibrium report for CELF1 (47487489 - 47587121 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CELF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744438CNV Deletion23290073
    esv2664490CNV Deletion23128226
    esv2744439CNV Deletion23290073
    esv1232065CNV Deletion17803354
    nsv512223CNV Loss21212237
    nsv897325CNV Loss21882294
    nsv832141CNV Loss17160897
    nsv314CNV Loss18451855
    nsv832142CNV Loss17160897
    nsv825872CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CELF1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601074    OMIM disorders: --

    10 diseases for CELF1:    
    About MalaCards
    myotonic dystrophy    myotonic dystrophy type 1    neurofibromatosis    insulin resistance
    muscular dystrophy    tonsillitis    thyroiditis    cerebritis
    prostatitis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for CELF1:
    Myotonic dystrophy

    CELF1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for CELF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myotonic dystrophy 91.2 12 9427761 (1), 10556089 (1), 12649496 (1), 16946708 (1) (see all 11)
    muscular dystrophies 50 1 14722059 (1)
    insulin resistance 0 1 12704419 (1)


    Export disorders for CELF1 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 CELF1 gene, integrated from 10 sources (see all 100):
    (articles sorted by number of sources associating them with CELF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. (PubMed id 8948631)1, 2, 3, 9 Timchenko L.T.... Swanson M.S. (Nucleic Acids Res. 1996)
    2. RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. (PubMed id 11124939)1, 2, 9 Timchenko N.A....Timchenko L.T. (J. Biol. Chem. 2001)
    3. A functional deadenylation assay identifies human CUG-BP as a deadenylation factor. (PubMed id 12799066)1, 2, 9 Paillard L.... Beverley Osborne H. (Biol. Cell 2003)
    4. CUG-BP binds to RNA substrates and recruits PARN deadenylase. (PubMed id 16601207)1, 2, 9 Moraes K.C.... Wilusz J. (RNA 2006)
    5. Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1- associated aberrant IR splicing. (PubMed id 16946708)1, 2, 9 Paul S....Reddy S. (EMBO J. 2006)
    6. Coexpression of the CUG-binding protein reduces DM protein kinase expression in COS cells. (PubMed id 11686919)1, 2, 9 Takahashi N.... Ishiura S. (J. Biochem. 2001)
    7. The CELF family of RNA binding proteins is implicated in cell- specific and developmentally regulated alternative splicing. (PubMed id 11158314)1, 2, 9 Ladd A.N.... Cooper T.A. (Mol. Cell. Biol. 2001)
    8. A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator. (PubMed id 10893231)1, 2, 9 Good P.J.... Herring D.C. (J. Biol. Chem. 2000)
    9. Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. (PubMed id 9371827)1, 3, 9 Roberts R....Timchenko L.T. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    10. Structural insights into RNA recognition by the alternate-splicing regulator CUG-binding protein 1. (PubMed id 20947024)1, 2 Teplova M.... Patel D.J. (Structure 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 10658 HGNC: 2549 AceView: CUGBP1 Ensembl:ENSG00000149187 euGenes: HUgn10658
    ECgene: CELF1 H-InvDB: CELF1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for CELF1 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 CELF1 gene:
    Search GeneIP for patents involving CELF1

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



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