• Gene id: 60677

Gene Summary

• Gene Symbol: CELF6   Gene   UCSC   Ensembl
• Aliases: BRUNOL6
• Gene name: CUGBP Elav-like family member 6
• Alternate names: CUGBP Elav-like family member 6, Bruno -like 6, RNA binding protein, CELF-6, CUG-BP- and ETR-3-like factor 6, RNA-binding protein BRUNOL-6, bruno-like 6, RNA binding protein, bruno-like protein 6,
• Gene location: 15q23 (72320156: 72284726)     Exons: 14     NC_000015.10
• 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: 612681

Protein Summary

• Protein general information: Q96J87  
  • Name: CUGBP Elav like family member 6 (CELF 6) (Bruno like protein 6) (CUG BP and ETR 3 like factor 6) (RNA binding protein BRUNOL 6)
  • Length: 481  
  • Mass: 50477
  • Tissue specificity: Expressed mainly in kidney, brain and testis and present in other tissues albeit at lower levels. Also expressed in fetal kidney. {ECO
• Sequence:

  MAAAPGGSAQPAGPGPRLGFSTADSGVGMSGLNPGPAVPMKDHDAIKLFVGQIPRGLDEQDLKPLFEEFGRIYEL
  TVLKDRLTGLHKGCAFLTYCARDSALKAQSALHEQKTLPGMNRPIQVKPAASEGRGEDRKLFVGMLGKQQGEEDV
  RRLFQPFGHIEECTVLRSPDGTSKGCAFVKFGSQGEAQAAIRGLHGSRTMAGASSSLVVKLADTDRERALRRMQQ
  MAGHLGAFHPAPLPLGACGAYTTAILQHQAALLAAAQGPGLGPVAAVAAQMQHVAAFSLVAAPLLPAAAANSPPG
  SGPGTLPGLPAPIGVNGFGPLTPQTNGQPGSDTLYNNGLSPYPAQSPGVADPLQQAYAGMHHYAAAYPSAYAPVS
  TAFPQQPSALPQQQREGPEGCNLFIYHLPQEFGDAELIQTFLPFGAVVSAKVFVDRATNQSKCFGFVSFDNPTSA
  QTAIQAMNGFQIGMKRLKVQLKRPKDANRPY

• Structural information:
  • Protein Domains: (46..12-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (134..21-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (396..47-)
    (/note="RRM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR034648  IPR012677  IPR035979  IPR000504  
  • Prosite: PS50102
  • CDD: cd12632
  • PDB: 2DGQ
  • PDBsum: 2DGQ
  • STRING: ENSP00000287202
• Other Databases: GeneCards:  CELF6  Malacards:  CELF6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990904	ribonucleoprotein complex	IBA	cellular component
GO:0006376	mRNA splice site selection	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0003723	RNA binding	NAS	molecular function
GO:0005737	cytoplasm	NAS	cellular component
GO:0005634	nucleus	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray