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    CELF3 CUGBP Elav-like family member 3 [ Homo sapiens (human) ]

    Gene ID: 11189, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CELF3provided by HGNC
    Official Full Name
    CUGBP Elav-like family member 3provided by HGNC
    Primary source
    HGNC:HGNC:11967
    See related
    Ensembl:ENSG00000159409 MIM:612678; AllianceGenome:HGNC:11967
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAGH4; ERDA4; ETR-1; TNRC4; BRUNOL1
    Summary
    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. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
    Expression
    Biased expression in brain (RPKM 11.4), adrenal (RPKM 3.2) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CELF3 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151700058..151716803, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150823442..150840189, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151672534..151689279, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151591098-151591598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151591599-151592099 Neighboring gene sorting nexin 27 Neighboring gene RNA, U6 small nuclear 1062, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151678174-151678674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151678675-151679175 Neighboring gene Sharpr-MPRA regulatory region 11691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1325 Neighboring gene regulatory subunit of type II PKA R-subunit domain containing 1 Neighboring gene RNA, U6 small nuclear 662, pseudogene Neighboring gene ribosomal protein S11 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4. Chapple JP, et al. Hum Mol Genet, 2007 Nov 15. PMID 17725984
    2. Integrative analysis of significant RNA-binding proteins in colorectal cancer metastasis. Zhou B, et al. J Cell Biochem, 2018 Dec. PMID 30132996
    3. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Ladd AN, et al. Mol Cell Biol, 2001 Feb. PMID 11158314, Free PMC Article
    4. A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator. Good PJ, et al. J Biol Chem, 2000 Sep 15. PMID 10893231
    5. Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors. Wang J, et al. J Neurochem, 2004 Mar. PMID 15009664

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CELF3 expression is associated with colorectal cancer metastasis.
      Title: Integrative analysis of significant RNA-binding proteins in colorectal cancer metastasis.
    2. Gomafu indirectly modulates the function of the splicing factors SF1 and Celf3 by sequestering these proteins into separate nuclear bodies.
      Title: Formation of nuclear bodies by the lncRNA Gomafu-associating proteins Celf3 and SF1.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC57297

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 7SK snRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables pre-mRNA binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lncRNA transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA splice site recognition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nuclear body organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of alternative mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermatogenesis 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 nuclear body IEA
    Inferred from Electronic Annotation
    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 
    part_of ribonucleoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    CUGBP Elav-like family member 3
    Names
    CAG repeat domain
    CAG repeat protein 4
    CUG-BP- and ETR-3-like factor 3
    ELAV-type RNA-binding protein 1
    RNA-binding protein BRUNOL-1
    bruno-like protein 1
    expanded repeat domain protein CAG/CTG 4
    expanded repeat domain, CAG/CTG 4
    trinucleotide repeat containing 4
    trinucleotide repeat-containing gene 4 protein

    NCBI Reference Sequences (RefSeq)

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    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_001172648.4 → NP_001166119.1  CUGBP Elav-like family member 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, as compared to isoform 1.
      Source sequence(s)
      AL589765, KF455029
      UniProtKB/TrEMBL
      Q59G45
      Conserved Domains (3) summary
      cd12635
      Location:47 → 127
      RRM2_CELF3_4_5_6; RNA recognition motif 2 in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins
      cd12639
      Location:329 → 407
      RRM3_CELF3_4_5_6; RNA recognition motif 2 in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins
      cl17169
      Location:2 → 41
      RRM_SF; RNA recognition motif (RRM) superfamily

    2. NM_001172649.4 → NP_001166120.1  CUGBP Elav-like family member 3 isoform 3

      See identical proteins and their annotated locations for NP_001166120.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AL589765, KF455029
      Consensus CDS
      CCDS53367.1
      UniProtKB/TrEMBL
      H0Y623
      Related
      ENSP00000290585.4, ENST00000290585.8
      Conserved Domains (3) summary
      cd12632
      Location:2 → 88
      RRM1_CELF3_4_5_6; RNA recognition motif 1 in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins
      cd12635
      Location:94 → 174
      RRM2_CELF3_4_5_6; RNA recognition motif 2 in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins
      cd12639
      Location:326 → 404
      RRM3_CELF3_4_5_6; RNA recognition motif 2 in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins

    3. NM_001291106.2 → NP_001278035.1  CUGBP Elav-like family member 3 isoform 4

      See identical proteins and their annotated locations for NP_001278035.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded protein (isoform 4) is shorter than isoform 1.
      Source sequence(s)
      AL589765, KF455029
      UniProtKB/TrEMBL
      H0Y623
      Conserved Domains (4) summary
      PRK12323
      Location:214 → 350
      PRK12323; DNA polymerase III subunit gamma/tau
      cd12639
      Location:375 → 453
      RRM3_CELF3_4_5_6; RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins
      cd12632
      Location:2 → 88
      RRM1_CELF3_4_5_6; RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins
      cd12635
      Location:94 → 174
      RRM2_CELF3_4_5_6; RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins

    4. NM_001291107.2 → NP_001278036.1  CUGBP Elav-like family member 3 isoform 5

      See identical proteins and their annotated locations for NP_001278036.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded protein (isoform 5) is shorter than isoform 1.
      Source sequence(s)
      AL589765, KF455029
      UniProtKB/TrEMBL
      H0Y623
      Related
      ENSP00000402503.1, ENST00000420342.1
      Conserved Domains (4) summary
      PRK12323
      Location:213 → 350
      PRK12323; DNA polymerase III subunit gamma/tau
      cd12639
      Location:375 → 453
      RRM3_CELF3_4_5_6; RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins
      cd12632
      Location:2 → 88
      RRM1_CELF3_4_5_6; RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins
      cd12635
      Location:93 → 173
      RRM2_CELF3_4_5_6; RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins

    5. NM_007185.7 → NP_009116.3  CUGBP Elav-like family member 3 isoform 1

      See identical proteins and their annotated locations for NP_009116.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL589765, KF455029
      Consensus CDS
      CCDS1002.1
      UniProtKB/Swiss-Prot
      B7ZKK6, O15414, Q499Y6, Q5SZQ7, Q5SZQ8, Q6NVK0, Q8IZ98, Q9BZC2, Q9HB30
      UniProtKB/TrEMBL
      H0Y623
      Related
      ENSP00000290583.4, ENST00000290583.9
      Conserved Domains (4) summary
      PRK12323
      Location:214 → 351
      PRK12323; DNA polymerase III subunit gamma/tau
      cd12639
      Location:376 → 454
      RRM3_CELF3_4_5_6; RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins
      cd12632
      Location:2 → 88
      RRM1_CELF3_4_5_6; RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins
      cd12635
      Location:94 → 174
      RRM2_CELF3_4_5_6; RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      151700058..151716803 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      150823442..150840189 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SZQ8.1 GenPept UniProtKB/Swiss-Prot:Q5SZQ8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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