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    CELF6 CUGBP Elav-like family member 6 [ Homo sapiens (human) ]

    Gene ID: 60677, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CELF6provided by HGNC
    Official Full Name
    CUGBP Elav-like family member 6provided by HGNC
    Primary source
    HGNC:HGNC:14059
    See related
    Ensembl:ENSG00000140488 MIM:612681; AllianceGenome:HGNC:14059
    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
    BRUNOL6
    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
    Ubiquitous expression in brain (RPKM 5.2), ovary (RPKM 3.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CELF6 in Genome Data Viewer
    Location:
    15q23
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (72284727..72320157, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (70101200..70136631, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72577068..72612498, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene poly(ADP-ribose) polymerase family member 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9718 Neighboring gene uncharacterized LOC105370887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6621 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:72634699-72635198 Neighboring gene hexosaminidase subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9719 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:72667591-72668146 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:72668147-72668703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9721 Neighboring gene HEXA antisense RNA 1

    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. RNA-binding protein CELF6 modulates transcription and splicing levels of genes associated with tumorigenesis in lung cancer A549 cells. Ma H, et al. PeerJ, 2022. PMID 35910766, Free PMC Article
    2. The natural compound neobractatin inhibits cell proliferation mainly by regulating the RNA binding protein CELF6. Zheng Z, et al. Food Funct, 2022 Feb 21. PMID 35088780
    3. CLIP and Massively Parallel Functional Analysis of CELF6 Reveal a Role in Destabilizing Synaptic Gene mRNAs through Interaction with 3' UTR Elements. Rieger MA, et al. Cell Rep, 2020 Dec 22. PMID 33357440, Free PMC Article
    4. CELF6 modulates triple-negative breast cancer progression by regulating the stability of FBP1 mRNA. Yang X, et al. Breast Cancer Res Treat, 2020 Aug. PMID 32601971
    5. CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing. Ladd AN, et al. J Biol Chem, 2004 Apr 23. PMID 14761971

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RNA-binding protein CELF6 modulates transcription and splicing levels of genes associated with tumorigenesis in lung cancer A549 cells.
      Title: RNA-binding protein CELF6 modulates transcription and splicing levels of genes associated with tumorigenesis in lung cancer A549 cells.
    2. The natural compound neobractatin inhibits cell proliferation mainly by regulating the RNA binding protein CELF6.
      Title: The natural compound neobractatin inhibits cell proliferation mainly by regulating the RNA binding protein CELF6.
    3. CLIP and Massively Parallel Functional Analysis of CELF6 Reveal a Role in Destabilizing Synaptic Gene mRNAs through Interaction with 3' UTR Elements.
      Title: CLIP and Massively Parallel Functional Analysis of CELF6 Reveal a Role in Destabilizing Synaptic Gene mRNAs through Interaction with 3' UTR Elements.
    4. CELF6 modulates triple-negative breast cancer progression by regulating the stability of FBP1 mRNA.
      Title: CELF6 modulates triple-negative breast cancer progression by regulating the stability of FBP1 mRNA.
    5. RNA-binding protein CELF6 is cell cycle regulated and controls cancer cell proliferation by stabilizing p21.
      Title: RNA-binding protein CELF6 is cell cycle regulated and controls cancer cell proliferation by stabilizing p21.
    6. Analysis of common variants near the corresponding genes implicated the RNA binding protein CELF6 in autism risk
      Title: The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors.
    7. CELF6 is a member of the CELF family of RNA-binding proteins that regulates muscle-specific splicing enhancer-dependent alternative splicing
      Title: CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: HEXA

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splice site recognition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    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 6
    Names
    Bruno -like 6, RNA binding protein
    CUG-BP- and ETR-3-like factor 6
    RNA-binding protein BRUNOL-6
    bruno-like 6, RNA binding protein
    bruno-like protein 6
    NP_001166155.1
    NP_001166156.1
    NP_443072.3

    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_001172684.2 → NP_001166155.1  CUGBP Elav-like family member 6 isoform 2

      See identical proteins and their annotated locations for NP_001166155.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC009690, AF401233, AK296004, DC368992
      Consensus CDS
      CCDS53956.1
      UniProtKB/Swiss-Prot
      Q96J87
      Related
      ENSP00000457863.1, ENST00000567083.2
      Conserved Domains (4) summary
      cd12632
      Location:41 → 127
      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:133 → 213
      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:365 → 443
      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
      TIGR01661
      Location:48 → 454
      ELAV_HUD_SF; ELAV/HuD family splicing factor

    2. NM_001172685.2 → NP_001166156.1  CUGBP Elav-like family member 6 isoform 3

      See identical proteins and their annotated locations for NP_001166156.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' sequence, which results in a downstream AUG start codon, and lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (3) has a shorter N-terminus and lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC009690, AK294382, KF456093
      Consensus CDS
      CCDS53955.1
      UniProtKB/TrEMBL
      B3KWE6
      Related
      ENSP00000439956.2, ENST00000543764.6
      Conserved Domains (3) summary
      cd12635
      Location:18 → 98
      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:255 → 333
      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
      TIGR01661
      Location:2 → 340
      ELAV_HUD_SF; ELAV/HuD family splicing factor

    3. NM_052840.5 → NP_443072.3  CUGBP Elav-like family member 6 isoform 1

      See identical proteins and their annotated locations for NP_443072.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF401233, AK131098, BM681937, BU732838, CA393931
      Consensus CDS
      CCDS10242.1
      UniProtKB/Swiss-Prot
      B4DG28, B4DJB6, Q6PII4, Q6ZNJ7, Q8N607, Q96J87
      Related
      ENSP00000287202.5, ENST00000287202.10
      Conserved Domains (4) summary
      cd12632
      Location:41 → 127
      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:133 → 213
      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:392 → 470
      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
      TIGR01661
      Location:48 → 477
      ELAV_HUD_SF; ELAV/HuD family splicing factor

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      72284727..72320157 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      70101200..70136631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96J87.1 GenPept UniProtKB/Swiss-Prot:Q96J87

    Gene LinkOut

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

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