• Gene id: 25957

Gene Summary

• Gene Symbol: PNISR   Gene   UCSC   Ensembl
• Aliases: C6orf111, HSPC306, SFRS18, SRrp130, bA98I9.2
• Gene name: PNN interacting serine and arginine rich protein
• Alternate names: arginine/serine-rich protein PNISR, PNN-interacting serine/arginine-rich protein, SR-related protein, SR-rich protein, serine-arginine-rich-splicing regulatory protein 130, splicing factor, arginine/serine-rich 130, splicing factor, arginine/serine-rich 18,
• Gene location: 6q16.2 (99426305: 99398049)     Exons: 13     NC_000006.12
• OMIM: 616653

Protein Summary

• Protein general information: Q8TF01  
  • Name: Arginine/serine rich protein PNISR (PNN interacting serine/arginine rich protein) (SR related protein) (SR rich protein) (Serine/arginine rich splicing regulatory protein 130) (SRrp130) (Splicing factor, arginine/serine rich 130) (Splicing factor, arginin
  • Length: 805  
  • Mass: 92577
  • Tissue specificity: Expressed in heart, skeletal muscle, thymus, spleen, kidney, liver, placenta and leukocytes. {ECO
• Sequence:

  MWDQGGQPWQQWPLNQQQWMQSFQHQQDPSQIDWAALAQAWIAQREASGQQSMVEQPPGMMPNGQDMSTMESGPN
  NHGNFQGDSNFNRMWQPEWGMHQQPPHPPPDQPWMPPTPGPMDIVPPSEDSNSQDSGEFAPDNRHIFNQNNHNFG
  GPPDNFAVGPVNQFDYQHGAAFGPPQGGFHPPYWQPGPPGPPAPPQNRRERPSSFRDRQRSPIALPVKQEPPQID
  AVKRRTLPAWIREGLEKMEREKQKKLEKERMEQQRSQLSKKEKKATEDAEGGDGPRLPQRSKFDSDEEEEDTENV
  EAASSGKVTRSPSPVPQEEHSDPEMTEEEKEYQMMLLTKMLLTEILLDVTDEEIYYVAKDAHRKATKAPAKQLAQ
  SSALASLTGLGGLGGYGSGDSEDERSDRGSESSDTDDEELRHRIRQKQEAFWRKEKEQQLLHDKQMEEEKQQTER
  VTKEMNEFIHKEQNSLSLLEAREADGDVVNEKKRTPNETTSVLEPKKEHKEKEKQGRSRSGSSSSGSSSSNSRTS
  STSSTVSSSSYSSSSGSSRTSSRSSSPKRKKRHSRSRSPTIKARRSRSRSYSRRIKIESNRARVKIRDRRRSNRN
  SIERERRRNRSPSRERRRSRSRSRDRRTNRASRSRSRDRRKIDDQRGNLSGNSHKHKGEAKEQERKKERSRSIDK
  DRKKKDKEREREQDKRKEKQKREEKDFKFSSQDDRLKRKRESERTFSRSGSISVKIIRHDSRQDSKKSTTKDSKK
  HSGSDSSGRSSSESPGSSKEKKAKKPKHSRSRSVEKSQRSGKKASRKHKSKSRSR

• Structural information:
  • Interpro: IPR031937  
  • STRING: ENSP00000358242
• Other Databases: GeneCards:  PNISR  Malacards:  PNISR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016607	nuclear speck	IBA	cellular component
GO:0048786	presynaptic active zone	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R