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    CELF5 CUGBP Elav-like family member 5 [ Homo sapiens (human) ]

    Gene ID: 60680, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CELF5provided by HGNC
    Official Full Name
    CUGBP Elav-like family member 5provided by HGNC
    Primary source
    HGNC:HGNC:14058
    See related
    Ensembl:ENSG00000161082 MIM:612680; AllianceGenome:HGNC:14058
    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
    CELF-5; BRUNOL5; BRUNOL-5
    Summary
    This gene encodes a member of the the CELF/BRUNOL protein family, which 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
    Expression
    Biased expression in brain (RPKM 14.1), ovary (RPKM 2.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See CELF5 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3224661..3297076)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3199540..3272447)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3224659..3297074)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:3185006-3185888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3189343-3189846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3189847-3190350 Neighboring gene sphingosine-1-phosphate receptor 4 Neighboring gene nicalin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9833 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3227850-3228390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3228391-3228930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3229472-3230011 Neighboring gene MPRA-validated peak3244 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9835 Neighboring gene uncharacterized LOC105372244 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3301113-3301307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13733 Neighboring gene skeletal muscle cis-regulatory module in NFIC intron Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3389688-3390265 Neighboring gene nuclear factor I C Neighboring gene Sharpr-MPRA regulatory region 10296 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3434103-3434880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3434881-3435658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3445307-3445848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3462537-3463072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3463073-3463608 Neighboring gene MPRA-validated peak3246 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3465190-3465690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3465691-3466191 Neighboring gene Sharpr-MPRA regulatory region 13615 Neighboring gene small integral membrane protein 24

    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. Differential expression of the Brunol/CELF family genes during Xenopus laevis early development. Wu J, et al. Int J Dev Biol, 2010. PMID 19757395
    2. 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
    3. 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
    4. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. Wang KS, et al. Schizophr Res, 2010 Dec. PMID 20889312
    5. FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia. Zhu XN, et al. J Hematol Oncol, 2023 Feb 11. PMID 36774506, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 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 cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in cytoplasm 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 ISS
    Inferred from Sequence or Structural Similarity
    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 5
    Names
    CUG-BP and ETR-3 like factor 5
    RNA-binding protein BRUNOL-5
    bruno-like 5 RNA binding 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.

    Genomic

    1. NG_052949.1 RefSeqGene

      Range
      4959..77374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172673.2 → NP_001166144.1  CUGBP Elav-like family member 5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame splice site in the central coding region, an alternate splice site that results in a frameshift in the 3' coding region, and it includes an additional segment in the 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB209067, AC005331, AC010649
      Consensus CDS
      CCDS54197.1
      UniProtKB/Swiss-Prot
      Q8N6W0
      Related
      ENSP00000443498.1, ENST00000541430.6
      Conserved Domains (2) summary
      cd12632
      Location:40 → 126
      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

    2. NM_021938.4 → NP_068757.2  CUGBP Elav-like family member 5 isoform 1

      See identical proteins and their annotated locations for NP_068757.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC005331, BC028101, BC047522
      Consensus CDS
      CCDS12106.1
      UniProtKB/Swiss-Prot
      D6W614, O75253, Q59GP2, Q86VW6, Q8N6W0, Q9BZC0, Q9NR86
      Related
      ENSP00000292672.1, ENST00000292672.7
      Conserved Domains (4) summary
      TIGR01645
      Location:46 → 372
      half-pint; poly-U binding splicing factor, half-pint family
      cd12639
      Location:396 → 474
      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:40 → 126
      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:133 → 213
      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

    RNA

    1. NR_033342.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' exon and uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because translation of the longest in-frame ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA448420, AC005331, AK294109
      Related
      ENST00000334293.10

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      3224661..3297076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722832.2 → XP_006722895.1  CUGBP Elav-like family member 5 isoform X1

      See identical proteins and their annotated locations for XP_006722895.1

      UniProtKB/Swiss-Prot
      D6W614, O75253, Q59GP2, Q86VW6, Q8N6W0, Q9BZC0, Q9NR86
      Conserved Domains (4) summary
      TIGR01645
      Location:46 → 372
      half-pint; poly-U binding splicing factor, half-pint family
      cd12639
      Location:396 → 474
      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:40 → 126
      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:133 → 213
      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

    2. XM_006722833.2 → XP_006722896.1  CUGBP Elav-like family member 5 isoform X2

      See identical proteins and their annotated locations for XP_006722896.1

      Conserved Domains (4) summary
      TIGR01645
      Location:46 → 371
      half-pint; poly-U binding splicing factor, half-pint family
      cd12639
      Location:395 → 473
      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:40 → 126
      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:132 → 212
      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

    3. XM_006722837.5 → XP_006722900.1  CUGBP Elav-like family member 5 isoform X3

      See identical proteins and their annotated locations for XP_006722900.1

      Conserved Domains (3) summary
      cd12635
      Location:19 → 99
      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:282 → 360
      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:5 → 362
      ELAV_HUD_SF; ELAV/HuD family splicing factor

    4. XM_006722836.3 → XP_006722899.1  CUGBP Elav-like family member 5 isoform X5

      Conserved Domains (3) summary
      cd12635
      Location:30 → 110
      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:293 → 371
      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:10 → 373
      ELAV_HUD_SF; ELAV/HuD family splicing factor

    5. XM_011528173.2 → XP_011526475.1  CUGBP Elav-like family member 5 isoform X3

      See identical proteins and their annotated locations for XP_011526475.1

      Conserved Domains (3) summary
      cd12635
      Location:19 → 99
      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:282 → 360
      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:5 → 362
      ELAV_HUD_SF; ELAV/HuD family splicing factor

    6. XM_011528174.4 → XP_011526476.1  CUGBP Elav-like family member 5 isoform X4

      See identical proteins and their annotated locations for XP_011526476.1

      Conserved Domains (3) summary
      cd12639
      Location:281 → 359
      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
      TIGR01661
      Location:8 → 361
      ELAV_HUD_SF; ELAV/HuD family splicing factor
      cd12635
      Location:18 → 98
      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

    7. XM_006722838.5 → XP_006722901.1  CUGBP Elav-like family member 5 isoform X3

      See identical proteins and their annotated locations for XP_006722901.1

      Conserved Domains (3) summary
      cd12635
      Location:19 → 99
      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:282 → 360
      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:5 → 362
      ELAV_HUD_SF; ELAV/HuD family splicing factor

    8. XM_017027111.1 → XP_016882600.1  CUGBP Elav-like family member 5 isoform X6

      Related
      ENSP00000468503.1, ENST00000588350.1

    RNA

    1. XR_430147.2 RNA Sequence

    2. XR_001753733.2 RNA Sequence

    3. XR_007066936.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      3199540..3272447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321693.1 → XP_054177668.1  CUGBP Elav-like family member 5 isoform X1

      UniProtKB/Swiss-Prot
      D6W614, O75253, Q59GP2, Q86VW6, Q8N6W0, Q9BZC0, Q9NR86

    2. XM_054321694.1 → XP_054177669.1  CUGBP Elav-like family member 5 isoform X2

    3. XM_054321698.1 → XP_054177673.1  CUGBP Elav-like family member 5 isoform X3

    4. XM_054321697.1 → XP_054177672.1  CUGBP Elav-like family member 5 isoform X5

    5. XM_054321699.1 → XP_054177674.1  CUGBP Elav-like family member 5 isoform X3

    6. XM_054321696.1 → XP_054177671.1  CUGBP Elav-like family member 5 isoform X4

    7. XM_054321695.1 → XP_054177670.1  CUGBP Elav-like family member 5 isoform X3

    8. XM_054321700.1 → XP_054177675.1  CUGBP Elav-like family member 5 isoform X6

    RNA

    1. XR_008485175.1 RNA Sequence

    2. XR_008485176.1 RNA Sequence

    3. XR_008485177.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6W0.1 GenPept UniProtKB/Swiss-Prot:Q8N6W0

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