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

Gene ID: 60677, updated on 5-Mar-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
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Genomic context

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Location:
15q23
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (72284727..72320157, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (70101200..70136631, complement)
105.20220307 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
  • 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
  
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_2023_10

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

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