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

Gene ID: 1995, updated on 7-Apr-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
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Genomic context

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Location:
19p13.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11451326..11481046, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11578845..11608554, complement)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  4. 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
  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 (24) 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 
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_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
    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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