• Gene id: 255919

Gene Summary

• Gene Symbol: CNEP1R1   Gene   UCSC   Ensembl
• Aliases: C16orf69, NEP1-R1, NEP1R1, TMEM188, TMP125
• Gene name: CTD nuclear envelope phosphatase 1 regulatory subunit 1
• Alternate names: nuclear envelope phosphatase-regulatory subunit 1, nuclear envelope phosphatase 1-regulatory subunit 1, transmembrane protein 188,
• Gene location: 16q12.1 (18526941: 18480310)     Exons: 11     NC_000011.10
• Gene summary(Entrez): This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol.
• OMIM: 616869

Protein Summary

• Protein general information: Q8N9A8  
  • Name: Nuclear envelope phosphatase regulatory subunit 1 (NEP1 R1) (Transmembrane protein 188)
  • Length: 125  
  • Mass: 14267
  • Tissue specificity: Muscle specific with lower expression in other metabolic tissues. {ECO
• Sequence:

  MNSLEQAEDLKAFERRLTEYIHCLQPATGRWRMLLIVVSVCTATGAWNWLIDPETQKVSFFTSLWNHPFFTISCI
  TLIGLFFAGIHKRVVAPSIIAARCRTVLAEYNMSCDDTGKLILKPRPHVQ

• Structural information:
  • Interpro: IPR019168  
• Other Databases: GeneCards:  CNEP1R1  Malacards:  CNEP1R1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034504	protein localization to nucleus	IDA	biological process
GO:0071595	Nem1-Spo7 phosphatase complex	IDA	cellular component
GO:0035307	positive regulation of protein dephosphorylation	IDA	biological process
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0010867	positive regulation of triglyceride biosynthetic process	IGI	biological process
GO:0035307	positive regulation of protein dephosphorylation	IEA	biological process
GO:0071595	Nem1-Spo7 phosphatase complex	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0007077	mitotic nuclear envelope disassembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq