• Gene id: 80856

Gene Summary

• Gene Symbol: LNPK   Gene   UCSC   Ensembl
• Aliases: KIAA1715, LNP, LNP1, NEDEHCC, Ul, ulnaless
• Gene name: lunapark, ER junction formation factor
• Alternate names: endoplasmic reticulum junction formation protein lunapark, 2310011O18Rik, 4921514L11Rik, ER junction formation factor lunapark, limb and neural patterns, protein lunapark,
• Gene location: 2q31.1 (176002900: 175923861)     Exons: 19     NC_000002.12
• OMIM: 612826

Protein Summary

• Protein general information: Q9C0E8  
  • Name: Endoplasmic reticulum junction formation protein lunapark (ER junction formation factor lunapark)
  • Length: 428  
  • Mass: 47740
  • Tissue specificity: Expressed in neural precursor cells, where it is detected at the growth-cone-like structure and branching sites of neurite-like processes. {ECO
• Sequence:

  MGGLFSRWRTKPSTVEVLESIDKEIQALEEFREKNQRLQKLWVGRLILYSSVLYLFTCLIVYLWYLPDEFTARLA
  MTLPFFAFPLIIWSIRTVIIFFFSKRTERNNEALDDLKSQRKKILEEVMEKETYKTAKLILERFDPDSKKAKECE
  PPSAGAAVTARPGQEIRQRTAAQRNLSPTPASPNQGPPPQVPVSPGPPKDSSAPGGPPERTVTPALSSNVLPRHL
  GSPATSVPGMGLHPPGPPLARPILPRERGALDRIVEYLVGDGPQNRYALICQQCFSHNGMALKEEFEYIAFRCAY
  CFFLNPARKTRPQAPRLPEFSFEKRQVVEGSSSVGPLPSGSVLSSDNQFNEESLEHDVLDDNTEQTDDKIPATEQ
  TNQVIEKASDSEEPEEKQETENEEASVIETNSTVPGADSIPDPELSGESLTAE

• Structural information:
  • Interpro: IPR040115  IPR019273  
  • STRING: ENSP00000272748
• Other Databases: GeneCards:  LNPK  Malacards:  LNPK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071782	endoplasmic reticulum tubular network	IBA	cellular component
GO:0071786	endoplasmic reticulum tubular network organization	IBA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0098826	endoplasmic reticulum tubular network membrane	IDA	cellular component
GO:0098826	endoplasmic reticulum tubular network membrane	IDA	cellular component
GO:0098826	endoplasmic reticulum tubular network membrane	IDA	cellular component
GO:0098826	endoplasmic reticulum tubular network membrane	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0071788	endoplasmic reticulum tubular network maintenance	IMP	biological process
GO:0071788	endoplasmic reticulum tubular network maintenance	IMP	biological process
GO:1903373	positive regulation of endoplasmic reticulum tubular network organization	IMP	biological process
GO:1903373	positive regulation of endoplasmic reticulum tubular network organization	IMP	biological process
GO:0007029	endoplasmic reticulum organization	IMP	biological process
GO:0071786	endoplasmic reticulum tubular network organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0032330	regulation of chondrocyte differentiation	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0060173	limb development	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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