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    CPEB4 cytoplasmic polyadenylation element binding protein 4 [ Homo sapiens (human) ]

    Gene ID: 80315, updated on 27-Nov-2024

    Summary

    Official Symbol
    CPEB4provided by HGNC
    Official Full Name
    cytoplasmic polyadenylation element binding protein 4provided by HGNC
    Primary source
    HGNC:HGNC:21747
    See related
    Ensembl:ENSG00000113742 MIM:610607; AllianceGenome:HGNC:21747
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CPE-BP4; hCPEB-4
    Summary
    Enables RNA binding activity. Predicted to be involved in several processes, including cellular response to glucose starvation; negative regulation of cytoplasmic translation; and response to ischemia. Located in cytoplasm and nucleus. Biomarker of liver cirrhosis; portal hypertension; and primary biliary cholangitis. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 26.5), bone marrow (RPKM 18.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CPEB4 in Genome Data Viewer
    Location:
    5q35.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (173888349..173961980)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (174428718..174502324)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (173315352..173388983)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:173198292-173199282 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:173204773-173205972 Neighboring gene uncharacterized LOC107986482 Neighboring gene NFE2L2 motif-containing MPRA enhancer 276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23666 Neighboring gene long intergenic non-protein coding RNA 1485 Neighboring gene Sharpr-MPRA regulatory region 2476 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23667 Neighboring gene Sharpr-MPRA regulatory region 12964 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4558 Neighboring gene Sharpr-MPRA regulatory region 12084 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4561 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4562 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:173301919-173302077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:173317123-173317624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:173317625-173318124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23671 Neighboring gene Sharpr-MPRA regulatory region 4386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:173368663-173369301 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:173390440-173391639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:173394847-173395510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23673 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:173408357-173408858 Neighboring gene chromosome 5 open reading frame 47 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:173446513-173447102 Neighboring gene ribosomal protein L12 pseudogene 22

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1673

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables mRNA regulatory element binding translation repressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables translation factor activity, RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to amino acid stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to decreased oxygen levels ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to glucose starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ionotropic glutamate receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cytoplasmic translation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to ischemia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in translation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    cytoplasmic polyadenylation element-binding protein 4
    Names
    CPE-binding protein 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001308189.2NP_001295118.1  cytoplasmic polyadenylation element-binding protein 4 isoform b

      See identical proteins and their annotated locations for NP_001295118.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AB051460, AC093275, AI742270, BC143958, BQ061431, BU629646, BX538213, CR741268, DA803281, R64139
      Consensus CDS
      CCDS78086.1
      UniProtKB/TrEMBL
      E5RJM0
      Related
      ENSP00000334533.5, ENST00000334035.9
      Conserved Domains (3) summary
      pfam16366
      Location:638699
      CEBP_ZZ; Cytoplasmic polyadenylation element-binding protein ZZ domain
      cd12724
      Location:455546
      RRM1_CPEB2_like; RNA recognition motif 1 (RRM1) found in cytoplasmic polyadenylation element-binding protein CPEB-2, CPEB-3, CPEB-4 and similar protiens
      cd12726
      Location:563643
      RRM2_CPEB2_like; RNA recognition motif 2 (RRM2) found in cytoplasmic polyadenylation element-binding protein CPEB-2, CPEB-3, CPEB-4 and similar protiens
    2. NM_001308191.2NP_001295120.1  cytoplasmic polyadenylation element-binding protein 4 isoform c

      See identical proteins and their annotated locations for NP_001295120.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AB051460, AC093275, AI742270, BC143959, BQ061431, BU629646, BX538213, CR741268, DA803281, R64139
      Consensus CDS
      CCDS78087.1
      UniProtKB/TrEMBL
      B7ZLQ8, E5RJM0
      Related
      ENSP00000429092.1, ENST00000520867.5
      Conserved Domains (3) summary
      pfam16366
      Location:630691
      CEBP_ZZ; Cytoplasmic polyadenylation element-binding protein ZZ domain
      cd12724
      Location:447538
      RRM1_CPEB2_like; RNA recognition motif 1 (RRM1) found in cytoplasmic polyadenylation element-binding protein CPEB-2, CPEB-3, CPEB-4 and similar protiens
      cd12726
      Location:555635
      RRM2_CPEB2_like; RNA recognition motif 2 (RRM2) found in cytoplasmic polyadenylation element-binding protein CPEB-2, CPEB-3, CPEB-4 and similar protiens
    3. NM_001308192.2NP_001295121.1  cytoplasmic polyadenylation element-binding protein 4 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon, resulting in an alternate 5' UTR and translation initiation at a downstream in-frame start codon, and it also lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus and lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AB051460, AC093275, AI742270, BC036899, BX401008, BX538213, CR741268, R64139
      Consensus CDS
      CCDS83043.1
      UniProtKB/TrEMBL
      A0A590UJI5, E5RFP2
      Related
      ENSP00000430345.1, ENST00000522336.5
      Conserved Domains (3) summary
      pfam16366
      Location:265326
      CEBP_ZZ; Cytoplasmic polyadenylation element-binding protein ZZ domain
      cd12724
      Location:82173
      RRM1_CPEB2_like; RNA recognition motif 1 (RRM1) found in cytoplasmic polyadenylation element-binding protein CPEB-2, CPEB-3, CPEB-4 and similar protiens
      cd12726
      Location:190270
      RRM2_CPEB2_like; RNA recognition motif 2 (RRM2) found in cytoplasmic polyadenylation element-binding protein CPEB-2, CPEB-3, CPEB-4 and similar protiens
    4. NM_001308193.2NP_001295122.1  cytoplasmic polyadenylation element-binding protein 4 isoform e

      See identical proteins and their annotated locations for NP_001295122.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon, resulting in an alternate 5' UTR and translation initiation at a downstream in-frame start codon, and it also lacks two alternate in-frame exons in the central coding region, compared to variant 1. The encoded isoform (e) is shorter at the N-terminus and lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AB051460, AC093275, AI742270, BC036899, BX401008, BX538213, CR741268, R64139
      Consensus CDS
      CCDS83044.1
      UniProtKB/TrEMBL
      A0A590UJI5
      Related
      ENSP00000427990.1, ENST00000517880.1
      Conserved Domains (3) summary
      cd12724
      Location:65156
      RRM1_CPEB2_like; RNA recognition motif 1 in cytoplasmic polyadenylation element-binding protein CPEB-2, CPEB-3, CPEB-4 and similar protiens
      cd12726
      Location:173253
      RRM2_CPEB2_like; RNA recognition motif 2 found in cytoplasmic polyadenylation element-binding protein CPEB-2, CPEB-3, CPEB-4 and similar protiens
      pfam16366
      Location:248309
      CEBP_ZZ; Cytoplasmic polyadenylation element-binding protein ZZ domain
    5. NM_030627.4NP_085130.2  cytoplasmic polyadenylation element-binding protein 4 isoform a

      See identical proteins and their annotated locations for NP_085130.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB051460, AC093275, AI742270, BC117150, BQ061431, BU629646, BX538213, CR741268, DA803281, R64139
      Consensus CDS
      CCDS4390.1
      UniProtKB/Swiss-Prot
      B7ZLQ7, Q17RY0, Q7Z310, Q8N405, Q9C0J0
      UniProtKB/TrEMBL
      E5RJM0
      Related
      ENSP00000265085.5, ENST00000265085.10
      Conserved Domains (3) summary
      pfam16366
      Location:655716
      CEBP_ZZ; Cytoplasmic polyadenylation element-binding protein ZZ domain
      cd12724
      Location:472563
      RRM1_CPEB2_like; RNA recognition motif 1 (RRM1) found in cytoplasmic polyadenylation element-binding protein CPEB-2, CPEB-3, CPEB-4 and similar protiens
      cd12726
      Location:580660
      RRM2_CPEB2_like; RNA recognition motif 2 (RRM2) found in cytoplasmic polyadenylation element-binding protein CPEB-2, CPEB-3, CPEB-4 and similar protiens

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      173888349..173961980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      174428718..174502324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)