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

Gene ID: 60680, updated on 7-Apr-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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Location:
19p13.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3224661..3297076)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3199540..3272447)
105.20220307 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
  • 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. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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_2023_10

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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