• Gene id: 5411

Gene Summary

• Gene Symbol: PNN   Gene   UCSC   Ensembl
• Aliases: DRS, DRSP, SDK3, memA
• Gene name: pinin, desmosome associated protein
• Alternate names: pinin, 140 kDa nuclear and cell adhesion-related phosphoprotein, SR-like protein, desmosome-associated protein, domain-rich serine protein, melanoma metastasis clone A protein, neutrophil protein, nuclear protein SDK3,
• Gene location: 14q21.1 (39175253: 39183219)     Exons: 32     NC_000014.9
• OMIM: 603154

Protein Summary

• Protein general information: Q9H307  
  • Name: Pinin (140 kDa nuclear and cell adhesion related phosphoprotein) (Desmosome associated protein) (Domain rich serine protein) (DRS protein) (DRSP) (Melanoma metastasis clone A protein) (Nuclear protein SDK3) (SR like protein)
  • Length: 717  
  • Mass: 81628
  • Tissue specificity: Expressed in placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, epidermis, esophagus, brain and smooth and skeletal muscle. Expressed strongly in melanoma metastasis lesions
• Sequence:

  MAVAVRTLQEQLEKAKESLKNVDENIRKLTGRDPNDVRPIQARLLALSGPGGGRGRGSLLLRRGFSDSGGGPPAK
  QRDLEGAVSRLGGERRTRRESRQESDPEDDDVKKPALQSSVVATSKERTRRDLIQDQNMDEKGKQRNRRIFGLLM
  GTLQKFKQESTVATERQKRRQEIEQKLEVQAEEERKQVENERRELFEERRAKQTELRLLEQKVELAQLQEEWNEH
  NAKIIKYIRTKTKPHLFYIPGRMCPATQKLIEESQRKMNALFEGRRIEFAEQINKMEARPRRQSMKEKEHQVVRN
  EEQKAEQEEGKVAQREEELEETGNQHNDVEIEEAGEEEEKEIAIVHSDAEKEQEEEEQKQEMEVKMEEETEVRES
  EKQQDSQPEEVMDVLEMVENVKHVIADQEVMETNRVESVEPSENEASKELEPEMEFEIEPDKECKTLSPGKENVS
  ALDMEKESEEKEEKESEPQPEPVAQPQPQSQPQLQLQSQSQPVLQSQPPSQPEDLSLAVLQPTPQVTQEQGHLLP
  ERKDFPVESVKLTEVPVEPVLTVHPESKSKTKTRSRSRGRARNKTSKSRSRSSSSSSSSSSSTSSSSGSSSSSGS
  SSSRSSSSSSSSTSGSSSRDSSSSTSSSSESRSRSRGRGHNRDRKHRRSVDRKRRDTSGLERSHKSSKGGSSRDT
  KGSKDKNSRSDRKRSISESSRSGKRSSRSERDRKSDRKDKRR

• Structural information:
  • Interpro: IPR039853  IPR006786  IPR006787  
  • DIP: 32950
  • STRING: ENSP00000216832
• Other Databases: GeneCards:  PNN  Malacards:  PNN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005911	cell-cell junction	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0007155	cell adhesion	IBA	biological process
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0035145	exon-exon junction complex	IDA	colocalizes with
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0005198	structural molecule activity	NAS	molecular function
GO:0005882	intermediate filament	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0005911	cell-cell junction	TAS	cellular component
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: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:0030057	desmosome	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa03015	mRNA surveillance pathway

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq