• Gene id: 64506

Gene Summary

• Gene Symbol: CPEB1   Gene   UCSC   Ensembl
• Aliases: CPE-BP1, CPEB, CPEB-1, h-CPEB, hCPEB-1
• Gene name: cytoplasmic polyadenylation element binding protein 1
• Alternate names: cytoplasmic polyadenylation element-binding protein 1, CPE-binding protein 1,
• Gene location: 15q25.2 (82648794: 82543200)     Exons: 5     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs
• OMIM: 607342

SNPs

rs2303846

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.82544529G>A
NC_000015.9   g.82828937G>A
NG_009890.2   g.1016C>T
NT_187606.1   g.333634G>A
NM_030594.4   c.*63C>T
NM_030594.5   c.*63C>T
NM_030594.3   c.*63C>T
NM_001365240.1   c.*63C>T
NM_001288819.1   c.*63C>T
NM_001365242.1   c.*63C>T
NM_001365246.1   c

Protein Summary

• Protein general information: Q9BZB8  
  • Name: Cytoplasmic polyadenylation element binding protein 1 (CPE BP1) (CPE binding protein 1) (h CPEB) (hCPEB 1)
  • Length: 566  
  • Mass: 62595
  • Tissue specificity: Isoform 1 is expressed in immature oocytes, ovary, brain and heart. Isoform 2 is expressed in brain and heart. Isoform 3 and isoform 4 are expressed in brain. Expressed in breast tumors and several tumor cell lines. {ECO
• Sequence:

  MALSLEEEAGRIKDCWDNQEAPALSTCSNANIFRRINAILDNSLDFSRVCTTPINRGIHDHLPDFQDSEETVTSR
  MLFPTSAQESSRGLPDANDLCLGLQSLSLTGWDRPWSTQDSDSSAQSSTHSVLSMLHNPLGNVLGKPPLSFLPLD
  PLGSDLVDKFPAPSVRGSRLDTRPILDSRSSSPSDSDTSGFSSGSDHLSDLISSLRISPPLPFLSLSGGGPRDPL
  KMGVGSRMDQEQAALAAVTPSPTSASKRWPGASVWPSWDLLEAPKDPFSIEREARLHRQAAAVNEATCTWSGQLP
  PRNYKNPIYSCKVFLGGVPWDITEAGLVNTFRVFGSLSVEWPGKDGKHPRCPPKGNMPKGYVYLVFELEKSVRSL
  LQACSHDPLSPDGLSEYYFKMSSRRMRCKEVQVIPWVLADSNFVRSPSQRLDPSRTVFVGALHGMLNAEALAAIL
  NDLFGGVVYAGIDTDKHKYPIGSGRVTFNNQRSYLKAVSAAFVEIKTTKFTKKVQIDPYLEDSLCHICSSQPGPF
  FCRDQVCFKYFCRSCWHWRHSMEGLRHHSPLMRNQKNRDSS

• Structural information:
  • Protein Domains: (311..40-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (430..51-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR032292  IPR032296  IPR038446  IPR034819  IPR034977   IPR012677  IPR035979  IPR000504  
  • Prosite: PS50102
  • CDD: cd12723
  • PDB: 2M13 2MKE 2MKH 2MKK 2N1O
  • PDBsum: 2M13 2MKE 2MKH 2MKK 2N1O
  • STRING: ENSP00000477715
• Other Databases: GeneCards:  CPEB1  Malacards:  CPEB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043022	ribosome binding	IBA	molecular function
GO:0043005	neuron projection	IBA	cellular component
GO:0008135	translation factor activity, RNA binding	IBA	molecular function
GO:2000766	negative regulation of cytoplasmic translation	IBA	biological process
GO:1990124	messenger ribonucleoprotein complex	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003730	mRNA 3'-UTR binding	IBA	molecular function
GO:0000900	translation repressor activity, mRNA regulatory element binding	IBA	molecular function
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:1900365	positive regulation of mRNA polyadenylation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0071230	cellular response to amino acid stimulus	ISS	biological process
GO:0035925	mRNA 3'-UTR AU-rich region binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000766	negative regulation of cytoplasmic translation	IMP	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0000900	translation repressor activity, mRNA regulatory element binding	ISS	molecular function
GO:0006417	regulation of translation	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003730	mRNA 3'-UTR binding	IEA	molecular function
GO:0045182	translation regulator activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0000932	P-body	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006412	translation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04114	Oocyte meiosis
hsa04914	Progesterone-mediated oocyte maturation

Diseases

Associated diseases	References
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Cryptorchidism	MIK: 21412036
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray