• Gene id: 56853

Gene Summary

• Gene Symbol: CELF4   Gene   UCSC   Ensembl
• Aliases: BRUNOL4, CELF-4
• Gene name: CUGBP Elav-like family member 4
• Alternate names: CUGBP Elav-like family member 4, CUG-BP- and ETR-3-like factor 4, LYST-interacting protein LIP9, RNA-binding protein BRUNOL4, bruno-like 4, RNA binding protein, bruno-like protein 4,
• Gene location: 18q12.2 (37565797: 37243039)     Exons: 6     NC_000018.10
• Gene summary(Entrez): Members of the CELF/BRUNOL protein family 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-mR
• OMIM: 612679

Protein Summary

• Protein general information: Q9BZC1  
  • Name: CUGBP Elav like family member 4 (CELF 4) (Bruno like protein 4) (CUG BP and ETR 3 like factor 4) (RNA binding protein BRUNOL 4)
  • Length: 486  
  • Mass: 51966
  • Tissue specificity: Ubiquitous. Strongly expressed in the cerebellum, hippocampus, amygdala, temporal and frontal cortex and frontal lobes. {ECO
• Sequence:

  MYIKMATLANGQADNASLSTNGLGSSPGSAGHMNGLSHSPGNPSTIPMKDHDAIKLFIGQIPRNLDEKDLKPLFE
  EFGKIYELTVLKDRFTGMHKGCAFLTYCERESALKAQSALHEQKTLPGMNRPIQVKPADSESRGGSSCLRQPPSQ
  DRKLFVGMLNKQQSEDDVRRLFEAFGNIEECTILRGPDGNSKGCAFVKYSSHAEAQAAINALHGSQTMPGASSSL
  VVKFADTDKERTMRRMQQMAGQMGMFNPMAIPFGAYGAYAQALMQQQAALMASVAQGGYLNPMAAFAAAQMQQMA
  ALNMNGLAAAPMTPTSGGSTPPGITAPAVPSIPSPIGVNGFTGLPPQANGQPAAEAVFANGIHPYPAQSPTAADP
  LQQAYAGVQQYAGPAAYPAAYGQISQAFPQPPPMIPQQQREGPEGCNLFIYHLPQEFGDAELMQMFLPFGFVSFD
  NPASAQTAIQAMNGFQIGMKRLKVQLKRPKDANRPY

• Structural information:
  • Protein Domains: (54..13-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (152..23-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (404..47-)
    (/note="RRM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR034648  IPR012677  IPR035979  IPR000504  
  • Prosite: PS50102
  • CDD: cd12632
  • PDB: 2DGP 2DNK
  • PDBsum: 2DGP 2DNK
  • STRING: ENSP00000410584
• Other Databases: GeneCards:  CELF4  Malacards:  CELF4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0006376	mRNA splice site selection	IBA	biological process
GO:1990904	ribonucleoprotein complex	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0048026	positive regulation of mRNA splicing, via spliceosome	IDA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0000380	alternative mRNA splicing, via spliceosome	IDA	biological process
GO:1902866	regulation of retina development in camera-type eye	IEA	biological process
GO:0006376	mRNA splice site selection	IEA	biological process
GO:0003729	mRNA binding	IEA	molecular function
GO:0090394	negative regulation of excitatory postsynaptic potential	IEA	biological process
GO:0048025	negative regulation of mRNA splicing, via spliceosome	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0017148	negative regulation of translation	IEA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0036002	pre-mRNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0009792	embryo development ending in birth or egg hatching	NAS	biological process
GO:0000900	translation repressor activity, mRNA regulatory element binding	NAS	molecular function
GO:0042835	BRE binding	ISS	molecular function
GO:0007281	germ cell development	NAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq