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    ELAVL3 ELAV like RNA binding protein 3 [ Homo sapiens (human) ]

    Gene ID: 1995, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ELAVL3provided by HGNC
    Official Full Name
    ELAV like RNA binding protein 3provided by HGNC
    Primary source
    HGNC:HGNC:3314
    See related
    Ensembl:ENSG00000196361 MIM:603458; AllianceGenome:HGNC:3314
    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
    HUC; HUCL; PLE21
    Summary
    A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward brain (RPKM 22.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See ELAVL3 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11451326..11481046, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11578845..11608554, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11562141..11591861, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10111 Neighboring gene outer dynein arm docking complex subunit 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11546061-11546560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14018 Neighboring gene uncharacterized LOC124904800 Neighboring gene PRKCSH beta subunit of glucosidase II Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11563051-11563821 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11564685-11564866 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11590379-11590573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10113 Neighboring gene zinc finger protein 653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10114 Neighboring gene microRNA 7974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14021 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11618272-11619049 Neighboring gene ECSIT signaling integrator Neighboring gene RNA, 7SL, cytoplasmic 833, pseudogene

    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. A hippocampal protein associated with paraneoplastic neurologic syndrome and small cell lung carcinoma. Sakai K, et al. Biochem Biophys Res Commun, 1994 Mar 30. PMID 7511893
    2. Localization of HuC (ELAVL3) to chromosome 19p13.2 by fluorescence in situ hybridization utilizing a novel tyramide labeling technique. Van Tine BA, et al. Genomics, 1998 Nov 1. PMID 9799595
    3. Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis. Diaz-Garcia S, et al. Acta Neuropathol, 2021 Dec. PMID 34618203, Free PMC Article
    4. MiR-124 synergism with ELAVL3 enhances target gene expression to promote neuronal maturity. Lu YL, et al. Proc Natl Acad Sci U S A, 2021 Jun 1. PMID 34031238, Free PMC Article
    5. Analysis of the RNA recognition motifs of human neuronal ELAV-like proteins in binding to a cytokine mRNA. Sakai K, et al. Biochem Biophys Res Commun, 1999 Mar 16. PMID 10079173

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis.
      Title: Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis.
    2. MiR-124 synergism with ELAVL3 enhances target gene expression to promote neuronal maturity.
      Title: MiR-124 synergism with ELAVL3 enhances target gene expression to promote neuronal maturity.
    3. HuC expression in neuroblastoma
      Title: Novel products of the HUD, HUC, NNP-1 and alpha-internexin genes identified by autologous antibody screening of a pediatric neuroblastoma library.
    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

    Homology

    Clone Names

    • MGC20653, DKFZp547J036

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mRNA 3'-UTR AU-rich region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ELAV-like protein 3
    Names
    ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)
    ELAV like neuron-specific RNA binding protein 3
    Hu antigen C
    hu-antigen C
    paraneoplastic cerebellar degeneration-associated antigen
    paraneoplastic limbic encephalitis antigen 21

    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_001420.4 → NP_001411.2  ELAV-like protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001411.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC008481, AI199100, AL512714, BC014144, BI117592, L26405
      Consensus CDS
      CCDS32912.1
      UniProtKB/Swiss-Prot
      Q14576, Q16135, Q96CL8, Q96QS9
      UniProtKB/TrEMBL
      Q96J71
      Related
      ENSP00000352162.1, ENST00000359227.8
      Conserved Domains (1) summary
      TIGR01661
      Location:36 → 366
      ELAV_HUD_SF; ELAV/HuD family splicing factor

    2. NM_032281.3 → NP_115657.2  ELAV-like protein 3 isoform 2

      See identical proteins and their annotated locations for NP_115657.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in the coding region, as compared to variant 1. It encodes isoform 2 which lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC008481, AI199100, AL512714, AY036909, BC014144, BI117592, L26405
      Consensus CDS
      CCDS45978.1
      UniProtKB/TrEMBL
      Q96J71
      Related
      ENSP00000390878.1, ENST00000438662.6
      Conserved Domains (1) summary
      TIGR01661
      Location:36 → 359
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      11451326..11481046 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451413.1 → XP_024307181.1  ELAV-like protein 3 isoform X2

      UniProtKB/TrEMBL
      Q96J71
      Conserved Domains (1) summary
      TIGR01661
      Location:35 → 358
      ELAV_HUD_SF; ELAV/HuD family splicing factor

    2. XM_011527778.3 → XP_011526080.1  ELAV-like protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011526080.1

      UniProtKB/TrEMBL
      Q96J71
      Conserved Domains (1) summary
      TIGR01661
      Location:35 → 365
      ELAV_HUD_SF; ELAV/HuD family splicing factor

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      11578845..11608554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320151.1 → XP_054176126.1  ELAV-like protein 3 isoform X2

    2. XM_054320150.1 → XP_054176125.1  ELAV-like protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14576.3 GenPept UniProtKB/Swiss-Prot:Q14576

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