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CPEB1 Gene

protein-coding   GIFtS: 54
GCID: GC15M083211

Cytoplasmic Polyadenylation Element Binding Protein 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
Cytoplasmic Polyadenylation Element Binding Protein 11 2     CEBP2
CPE-BP12 3     CPEB-12
CPEB2 3     Cytoplasmic Polyadenylation Element-Binding Protein 12
CPE-Binding Protein 12 3     h-CEBP3
hCPEB-12 3     

External Ids:    HGNC: 217441   Entrez Gene: 645062   Ensembl: ENSG000002145757   OMIM: 6073425   UniProtKB: Q9BZB83   

Export aliases for CPEB1 gene to outside databases

Previous GC identifers: GC15M079015 GC15M076145 GC15M080796 GC15M080939 GC15M080940 GC15M081009 GC15M059482


(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 CPEB1 Gene:
This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly
conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the
3' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is
involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play
a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Jan 2014)

GeneCards Summary for CPEB1 Gene:
CPEB1 (cytoplasmic polyadenylation element binding protein 1) is a protein-coding gene. Diseases associated with CPEB1 include protein s deficiency, and insulin resistance. GO annotations related to this gene include mRNA binding and nucleotide binding. An important paralog of this gene is CPEB2.

UniProtKB/Swiss-Prot: CPEB1_HUMAN, Q9BZB8
Function: Sequence-specific RNA-binding protein that regulates mRNA cytoplasmic polyadenylation and translation
initiation during oocyte maturation, early development and at postsynapse sites of neurons. Binds to the
cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3')
within the mRNA 3'-UTR. In absence of phosphorylation and in association with TACC3 is also involved as a
repressor of translation of CPE-containing mRNA; a repression that is relieved by phosphorylation or degradation
(By similarity). Involved in the transport of CPE-containing mRNA to dendrites; those mRNAs may be transported to
dendrites in a translationally dormant form and translationally activated at synapses (By similarity). Its
interaction with APLP1 promotes local CPE-containing mRNA polyadenylation and translation activation (By
similarity). Induces the assembly of stress granules in the absence of stress

Gene Wiki entry for CPEB1 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_000015.10  NT_010194.18  NC_018926.2  NT_187606.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the CPEB1 gene promoter:
         Elk-1   LCR-F1   Tal-1beta   E47   AREB6   MZF-1   HFH-1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCPEB1 promoter sequence
   Search Chromatin IP Primers for CPEB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CPEB1


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

Entrez Gene cytogenetic band: 15q25.2   Ensembl cytogenetic band:  15q25.2   HGNC cytogenetic band: 15q25.1

CPEB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPEB1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M083211:  view genomic region     (about GC identifiers)

Start:
83,211,951 bp from pter      End:
83,317,612 bp from pter
Size:
105,662 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: CPEB1_HUMAN, Q9BZB8 (See protein sequence)
Recommended Name: Cytoplasmic polyadenylation element-binding protein 1  
Size: 566 amino acids; 62595 Da
Subunit: Interacts with kinesin, dynein, APLP1, APLP2, PAPD4/GLD2 and APP. Both phosphorylated and non
phosphorylated forms interact with APLP1 (By similarity)
1 PDB 3D structure from and Proteopedia for CPEB1:
2M13 (3D)    
Secondary accessions: B7Z6C6 Q86W46 Q8IV41 Q9BZB7 Q9H8V5
Alternative splicing: 4 isoforms:  Q9BZB8-1   Q9BZB8-2   Q9BZB8-3   Q9BZB8-4   

Explore the universe of human proteins at neXtProt for CPEB1: NX_Q9BZB8

Explore proteomics data for CPEB1 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine/threonine residues by AURKA within positions 166 and 197. Phosphorylation and
    dephosphorylation on Thr-172 regulates cytoplasmic polyadenylation and translation of CPE-containing mRNAs.
    Phosphorylation on Thr-172 by AURKA and CAMK2A activates CPEB1. Phosphorylation on Thr-172 may be promoted by
    APLP1. Phosphorylation increases binding to RNA (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CPEB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001073001.1  NP_001073002.1  NP_001073003.1  NP_001275748.1  NP_001275749.1  NP_085097.3  

    ENSEMBL proteins: 
     ENSP00000414187   ENSP00000457556   ENSP00000381591   ENSP00000457836   ENSP00000397526  
     ENSP00000457881   ENSP00000457364   ENSP00000261723   ENSP00000458081   ENSP00000454881  
     ENSP00000455044   ENSP00000455268   ENSP00000457137   ENSP00000381592  

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

    Graphical View of Domain Structure for InterPro Entry Q9BZB8

    ProtoNet protein and cluster: Q9BZB8

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

    UniProtKB/Swiss-Prot: CPEB1_HUMAN, Q9BZB8
    Domain: The 2 RRM domains and the C-terminal region mediate interaction with CPE-containing RNA (By similarity)
    Similarity: Belongs to the RRM CPEB family
    Similarity: Contains 2 RRM (RNA recognition motif) domains


    CPEB1 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: CPEB1_HUMAN, Q9BZB8
    Function: Sequence-specific RNA-binding protein that regulates mRNA cytoplasmic polyadenylation and translation
    initiation during oocyte maturation, early development and at postsynapse sites of neurons. Binds to the
    cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3')
    within the mRNA 3'-UTR. In absence of phosphorylation and in association with TACC3 is also involved as a
    repressor of translation of CPE-containing mRNA; a repression that is relieved by phosphorylation or degradation
    (By similarity). Involved in the transport of CPE-containing mRNA to dendrites; those mRNAs may be transported to
    dendrites in a translationally dormant form and translationally activated at synapses (By similarity). Its
    interaction with APLP1 promotes local CPE-containing mRNA polyadenylation and translation activation (By
    similarity). Induces the assembly of stress granules in the absence of stress

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0000900translation repressor activity, nucleic acid binding ISS--
    GO:0003676nucleic acid binding ----
    GO:0003729mRNA binding ----
    GO:0035925mRNA 3'-UTR AU-rich region binding ISS--
         
    CPEB1 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cpeb1):
     cellular  endocrine/exocrine gland  nervous system  reproductive system 

    CPEB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cpeb1tm1Rcht for CPEB1

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    SwitchGear 3'UTR luciferase reporter plasmidCPEB1 3' UTR sequence
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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
    CPEB1_HUMAN, Q9BZB8: Cytoplasm, P-body. Cytoplasmic granule. Cell junction, synapse. Membrane. Cell junction,
    synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cell projection, dendrite (By
    similarity). Note=Also found in stress granules. Recruited to stress granules (SGs) upon arsenite treatment. In
    dendrites (By similarity). Localizes in synaptosomes at dendritic synapses of neurons (By similarity). Strongly
    enriched in postsynaptic density (PSD) fractions (By similarity). Transported into dendrites in a
    microtubule-dependent fashion and colocalizes in mRNA-containing particles with TACC3, dynein and kinesin (By
    similarity). Membrane-associated (By similarity). Colocalizes at excitatory synapses with members of the
    polyadenylation and translation complex factors (CPSF, APLP1, TACC3, AURKA, SYP, etc.) including CPE-containing
    RNAs (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytoskeleton2
    cytosol2
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000932cytoplasmic mRNA processing body IEA--
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--
    GO:0014069postsynaptic density IEA--
    GO:0016020membrane ----

    CPEB1 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 CPEB1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Oocyte meiosis
    Oocyte meiosis0.35
    Progesterone-mediated oocyte maturation0.35
    2Dorso-ventral axis formation
    Dorso-ventral axis formation
    3Aurora A signaling
    Aurora A signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CPEB1
        Aurora A signaling



    3 Kegg Pathways  (Kegg details for CPEB1):
        Oocyte meiosis
    Dorso-ventral axis formation
    Progesterone-mediated oocyte maturation


    CPEB1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CPEB1
    Interactions:

        Search GeneGlobe Interaction Network for CPEB1

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

    Selected Interacting proteins for CPEB1 (Q9BZB83 ENSP000004141874) via UniProtKB, MINT, STRING, and/or I2D (see all 95)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DYNLRB1Q9NP973, ENSP000003496794I2D: score=1 STRING: ENSP00000349679
    KIF1BO603333, ENSP000002639344I2D: score=1 STRING: ENSP00000263934
    UBCENSP000003448184STRING: ENSP00000344818
    AURKAENSP000002169114STRING: ENSP00000216911
    SPI1ENSP000002271634STRING: ENSP00000227163
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    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing IEA--
    GO:0006417regulation of translation ----
    GO:0007130synaptonemal complex assembly ----
    GO:0032869cellular response to insulin stimulus IDA18752464
    GO:0048168regulation of neuronal synaptic plasticity ----

    CPEB1 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 CPEB1

    6 Novoseek inferred chemical compound relationships for CPEB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 57.3 5 17052452 (3), 15550246 (2)
    progesterone 8.95 2 14724178 (2)
    threonine 8.27 1 10749216 (1)
    oxygen 0 1 19141477 (1)
    calcium 0 2 15944388 (1), 15175389 (1)
    serine 0 1 10749216 (1)



    CPEB1 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,
    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 CPEB1 gene (6 alternative transcripts): 
    NM_001079533.1  NM_001079534.1  NM_001079535.1  NM_001288819.1  NM_001288820.1  NM_030594.4  

    Unigene Cluster for CPEB1:

    Cytoplasmic polyadenylation element binding protein 1
    Hs.547988  [show with all ESTs]
    Unigene Representative Sequence: BX649159
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000569015(uc002bip.3) ENST00000450751(uc002biq.3 uc002bir.3 uc002bis.3 uc010uod.2 uc010uoe.2 uc010uof.2 uc002biv.3)
    ENST00000563800(uc002bit.3 uc002biu.3) ENST00000398591 ENST00000562019
    ENST00000423133 ENST00000568128 ENST00000564522 ENST00000261723 ENST00000568757
    ENST00000570229 ENST00000570205 ENST00000568994 ENST00000569257 ENST00000567678
    ENST00000566716 ENST00000563519 ENST00000398592
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    Additional mRNA sequence: 

    AF329402.1 AF329403.1 AK023265.1 AK294280.1 AK300105.1 AK301728.1 AL832156.1 BC035348.1 
    BC050629.1 BX649159.1 

    10 DOTS entries:

    DT.95365025  DT.100752004  DT.433263  DT.100722696  DT.121021350  DT.121021850  DT.75154050  DT.100752005 
    DT.100752006  DT.121021941 

    Selected AceView cDNA sequences (see all 3007):

    BM715948 BF795910 AW163296 BQ070359 BM788251 BE893362 BG422230 CD105295 
    BI194360 BG025256 BE296099 BE312108 CB265752 BM888403 T54312 CB155166 
    AW602582 BI254651 BI197301 CD105907 AW160429 BQ051596 CB109224 BG757919 

    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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    CPEB1 expression in normal human tissues (normalized intensities)      CPEB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGGCCTGC
    CPEB1 Expression
    About this image


    CPEB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gonad
             XY Germ Cells Testis Cord
     
     Ovary (Reproductive System)
             XX Germ Cells Ovigerous Cord
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
    CPEB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CPEB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.547988

    UniProtKB/Swiss-Prot: CPEB1_HUMAN, Q9BZB8
    Tissue specificity: Isoform 1 is expressed in immature oocytes, ovary, brain and heart. Isoform 2 is expressed in
    brain and heart. Isoform 3 and isoform 4 are expressed in brain. Expressed in breast tumors and several tumor
    cell lines

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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 CPEB1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpeb11 , 5 cytoplasmic polyadenylation element binding protein more1, 5 92.03(n)1
    96.04(a)1
      7 (45.71 cM)5
    128771  NM_001252525.11  NP_001239454.11 
     813470265 
    chicken
    (Gallus gallus)
    Aves CPEB11 cytoplasmic polyadenylation element binding protein more 80.06(n)
    86.25(a)
      415326  XM_004943630.1  XP_004943687.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    74(a)
    1 → many
    GL343479.1(566744-613866)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.9842 Xenopus laevis cytoplasmic polyadenylation element more 79.27(n)    U14169.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zorba2 Orb/CPEB-related RNA-binding protein 74.36(n)   30702  AB011680.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta orb3 germ-cell development RNA binding 59(a)   3 94E9   --
    worm
    (Caenorhabditis elegans)
    Secernentea cpb-33   -- 44(a)   I(5797307-5799860)   --


    ENSEMBL Gene Tree for CPEB1 (if available)
    TreeFam Gene Tree for CPEB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CPEB1 gene
    CPEB22  CPEB42  ENSG000002608362  CPEB32  
    5 SIMAP similar genes for CPEB1 using alignment to 8 protein entries:     CPEB1_HUMAN (see all proteins):
    CPEB 4 variant    CPEB2    CPEB3    CPEB4    DKFZp686L03182

    CPEB1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CPEB1
    PGOHUM00000246883


    (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 CPEB1 (see all 2193)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs599252511,2
    C--59519250(+) AAAAA-/AAAAA 
    /AAAAAAA
    GACTC
    1 -- int11NA 2
    rs1890938681,2
    --62873785(+) AACCCA/CATCAC 3 -- ds50010--------
    rs346953761,2
    C--62873789(-) GGGAGT/CGATTG 3 -- ds50011Minor allele frequency- C:0.00NA 2
    rs2007124521,2
    C--62874559(+) TCAGT-/CAACTG 3 -- ut310--------
    rs8036941,2
    C,F--62874733(+) CTTCTA/GTCAAC 3 -- ut314Minor allele frequency- G:0.23NA 186
    rs38506081,2
    F--62874851(-) AAAAAA/TTTTTT 3 -- ut313Minor allele frequency- T:0.43EA NA MN 228
    rs23038461,2
    C,F--62875557(-) GCCTGC/TACCAC 3 -- ut311Minor allele frequency- T:0.21EA 1480
    rs12676591,2
    C,F,O,H--62876241(-) CCATAG/ATCAGA 3 -- int117Minor allele frequency- A:0.44MN NS EA NA WA CSA 2168
    rs1419928941,2
    --62876268(+) ATCCAA/GATCCA 3 -- int10--------
    rs1506757731,2
    --62876284(+) GCCTCC/GTAGAT 3 -- int10--------

    HapMap Linkage Disequilibrium report for CPEB1 (83211951 - 83317612 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CPEB1 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2449307CNV Deletion19546169
    esv2749957CNV Deletion23290073
    esv4952CNV Deletion18987735
    esv2160515CNV Deletion18987734
    esv2566465CNV Deletion19546169
    esv2749956CNV Deletion23290073
    esv2674021CNV Deletion23128226
    esv1651554CNV Deletion17803354
    esv2671639CNV Deletion23128226
    nsv1640CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CPEB1
    DNA2.0 Custom Variant and Variant Library Synthesis for CPEB1

    (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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    OMIM gene information: 607342    OMIM disorders: --

    9 diseases for CPEB1:    About MalaCards
    protein s deficiency    insulin resistance    mental retardation    chronic lymphocytic leukemia
    retinitis    cervicitis    neuronitis    leukemia
    hepatitis


    CPEB1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CPEB1
    Human Genome Epidemiology (HuGE) Navigator: CPEB1 (2 documents)

    Export disorders for CPEB1 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 CPEB1 gene, integrated from 10 sources (see all 87):
    (articles sorted by number of sources associating them with CPEB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of the gene encoding human cytoplasmic polyadenylation element binding protein. (PubMed id 11223249)1, 2, 3 Welk J.F.... MacNicol A.M. (Gene 2001)
    2. The C-Terminal region of cytoplasmic polyadenylation element binding protein is a ZZ domain with potential for protein-protein interactions. (PubMed id 23500490)1, 2 Merkel D.J.... Lee B.M. (J. Mol. Biol. 2013)
    3. Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk. (PubMed id 20062064)1, 4 Crowther-Swanepoel D....Houlston R.S. (Nat. Genet. 2010)
    4. The translational regulator CPEB1 provides a link between dcp1 bodies and stress granules. (PubMed id 15731006)1, 2 Wilczynska A.... Weil D. (J. Cell Sci. 2005)
    5. Over-expression of Aurora-A targets cytoplasmic polyadenylation element binding protein and promotes mRNA polyadenylation of Cdk1 and cyclin B1. (PubMed id 15966895)1, 2 Sasayama T.... Hirota T. (Genes Cells 2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. CPEB regulation of human cellular senescence, energy metabolism, and p53 mRNA translation. (PubMed id 19141477)1, 9 Burns D.M. and Richter J.D. (amp 2008)
    9. Cytoplasmic polyadenylation-element-binding protein (CPEB)1 and 2 bind to the HIF-1alpha mRNA 3'-UTR and modulate HIF-1alpha protein expression. (PubMed id 18752464)1, 9 HAogele S....Katschinski D.M. (Biochem. J. 2009)
    10. Expression of CPEB, GAPDH and U6snRNA in cervical and ovarian tissue during cancer development. (PubMed id 19161537)1, 9 Hansen C.N....Norrild B. (APMIS 2009)

    (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: 64506 HGNC: 21744 AceView: CPEB1 Ensembl:ENSG00000214575 euGenes: HUgn64506
    ECgene: CPEB1 Kegg: 64506 H-InvDB: CPEB1

    (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 CPEB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CPEB1 gene:
    Search GeneIP for patents involving CPEB1

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



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