• Gene id: 1995

Gene Summary

• Gene Symbol: ELAVL3   Gene   UCSC   Ensembl
• Aliases: HUC, HUCL, PLE21
• Gene name: ELAV like RNA binding protein 3
• Alternate names: ELAV-like protein 3, 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 enceph,
• Gene location: 19p13.2 (1528677: 1555567)     Exons: 4     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 603458

Protein Summary

• Protein general information: Q14576  
  • Name: ELAV like protein 3 (Hu antigen C) (HuC) (Paraneoplastic cerebellar degeneration associated antigen) (Paraneoplastic limbic encephalitis antigen 21)
  • Length: 367  
  • Mass: 39547
  • Tissue specificity: Brain specific.
• Sequence:

  MVTQILGAMESQVGGGPAGPALPNGPLLGTNGATDDSKTNLIVNYLPQNMTQDEFKSLFGSIGDIESCKLVRDKI
  TGQSLGYGFVNYSDPNDADKAINTLNGLKLQTKTIKVSYARPSSASIRDANLYVSGLPKTMSQKEMEQLFSQYGR
  IITSRILVDQVTGVSRGVGFIRFDKRIEAEEAIKGLNGQKPLGAAEPITVKFANNPSQKTGQALLTHLYQSSARR
  YAGPLHHQTQRFRLDNLLNMAYGVKSPLSLIARFSPIAIDGMSGLAGVGLSGGAAGAGWCIFVYNLSPEADESVL
  WQLFGPFGAVTNVKVIRDFTTNKCKGFGFVTMTNYDEAAMAIASLNGYRLGERVLQVSFKTSKQHKA

• Structural information:
  • Protein Domains: (39..11-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (125..20-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (284..36-)
    (/note="RRM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR006548  IPR034775  IPR034915  IPR002343  IPR012677   IPR035979  IPR000504  IPR003954  
  • Prosite: PS50102
  • CDD: cd12650 cd12655
  • STRING: ENSP00000352162
• Other Databases: GeneCards:  ELAVL3  Malacards:  ELAVL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990904	ribonucleoprotein complex	IEA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0035925	mRNA 3'-UTR AU-rich region binding	IEA	molecular function
GO:0035925	mRNA 3'-UTR AU-rich region binding	IDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq