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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
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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)

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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