• Gene id: 8189

Gene Summary

• Gene Symbol: SYMPK   Gene   UCSC   Ensembl
• Aliases: SPK, SYM
• Gene name: symplekin
• Alternate names: symplekin,
• Gene location: 19q13.32 (45863166: 45815409)     Exons: 28     NC_000019.10
• Gene summary(Entrez): This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold
• OMIM: 617942

Protein Summary

• Protein general information: Q92797  
  • Name: Symplekin
  • Length: 1274  
  • Mass: 141148
  • Tissue specificity: In testis, expressed in polar epithelia and Sertoli cells but not in vascular endothelia. The protein is detected in stomach, duodenum, pancreas, liver, fetal brain, carcinomas, lens-forming cells, fibroblasts, lymphocytes, lymphoma ce
• Sequence:

  MASGSGDSVTRRSVASQFFTQEEGPGIDGMTTSERVVDLLNQAALITNDSKITVLKQVQELIINKDPTLLDNFLD
  EIIAFQADKSIEVRKFVIGFIEEACKRDIELLLKLIANLNMLLRDENVNVVKKAILTMTQLYKVALQWMVKSRVI
  SELQEACWDMVSAMAGDIILLLDSDNDGIRTHAIKFVEGLIVTLSPRMADSEIPRRQEHDISLDRIPRDHPYIQY
  NVLWEEGKAALEQLLKFMVHPAISSINLTTALGSLANIARQRPMFMSEVIQAYETLHANLPPTLAKSQVSSVRKN
  LKLHLLSVLKHPASLEFQAQITTLLVDLGTPQAEIARNMPSSKDTRKRPRDDSDSTLKKMKLEPNLGEDDEDKDL
  EPGPSGTSKASAQISGQSDTDITAEFLQPLLTPDNVANLVLISMVYLPEAMPASFQAIYTPVESAGTEAQIKHLA
  RLMATQMTAAGLGPGVEQTKQCKEEPKEEKVVKTESVLIKRRLSAQGQAISVVGSLSSMSPLEEEAPQAKRRPEP
  IIPVTQPRLAGAGGRKKIFRLSDVLKPLTDAQVEAMKLGAVKRILRAEKAVACSGAAQVRIKILASLVTQFNSGL
  KAEVLSFILEDVRARLDLAFAWLYQEYNAYLAAGASGSLDKYEDCLIRLLSGLQEKPDQKDGIFTKVVLEAPLIT
  ESALEVVRKYCEDESRTYLGMSTLRDLIFKRPSRQFQYLHVLLDLSSHEKDKVRSQALLFIKRMYEKEQLREYVE
  KFALNYLQLLVHPNPPSVLFGADKDTEVAAPWTEETVKQCLYLYLALLPQNHKLIHELAAVYTEAIADIKRTVLR
  VIEQPIRGMGMNSPELLLLVENCPKGAETLVTRCLHSLTDKVPPSPELVKRVRDLYHKRLPDVRFLIPVLNGLEK
  KEVIQALPKLIKLNPIVVKEVFNRLLGTQHGEGNSALSPLNPGELLIALHNIDSVKCDMKSIIKATNLCFAERNV
  YTSEVLAVVMQQLMEQSPLPMLLMRTVIQSLTMYPRLGGFVMNILSRLIMKQVWKYPKVWEGFIKCCQRTKPQSF
  QVILQLPPQQLGAVFDKCPELREPLLAHVRSFTPHQQAHIPNSIMTILEASGKQEPEAKEAPAGPLEEDDLEPLT
  LAPAPAPRPPQDLIGLRLAQEKALKRQLEEEQKLKPGGVGAPSSSSPSPSPSARPGPPPSEEAMDFREEGPECET
  PGIFISMDDDSGLTEAALLDSSLEGPLPKETAAGGLTLKEERSPQTLAPVGEDAMKTPSPAAEDAREPEAKGNS

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR021850  IPR032460  IPR022075  
  • PDB: 3O2Q 3O2S 3O2T 3ODR 3ODS 4H3H 4H3K
  • PDBsum: 3O2Q 3O2S 3O2T 3ODR 3ODS 4H3H 4H3K
  • DIP: 42506
  • STRING: ENSP00000245934
• Other Databases: GeneCards:  SYMPK  Malacards:  SYMPK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006378	mRNA polyadenylation	IBA	biological process
GO:0005847	mRNA cleavage and polyadenylation specificity factor complex	IBA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0006369	termination of RNA polymerase II transcription	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0097165	nuclear stress granule	IDA	cellular component
GO:0035307	positive regulation of protein dephosphorylation	IDA	biological process
GO:0032091	negative regulation of protein binding	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006378	mRNA polyadenylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R