• Gene id: 56926

Gene Summary

• Gene Symbol: NCLN   Gene   UCSC   Ensembl
• Aliases: NET59
• Gene name: nicalin
• Alternate names: nicalin, nicalin homolog, nicastrin-like protein,
• Gene location: 19p13.3 (3185929: 3209574)     Exons: 15     NC_000019.10
• OMIM: 609156

Protein Summary

• Protein general information: Q969V3  
  • Name: Nicalin (Nicastrin like protein)
  • Length: 563  
  • Mass: 62974
  • Tissue specificity: Highly expressed in pancreas and skeletal muscle and, at lower levels, in heart. {ECO
• Sequence:

  MLEEAGEVLENMLKASCLPLGFIVFLPAVLLLVAPPLPAADAAHEFTVYRMQQYDLQGQPYGTRNAVLNTEARTM
  AAEVLSRRCVLMRLLDFSYEQYQKALRQSAGAVVIILPRAMAAVPQDVVRQFMEIEPEMLAMETAVPVYFAVEDE
  ALLSIYKQTQAASASQGSASAAEVLLRTATANGFQMVTSGVQSKAVSDWLIASVEGRLTGLGGEDLPTIVIVAHY
  DAFGVAPWLSLGADSNGSGVSVLLELARLFSRLYTYKRTHAAYNLLFFASGGGKFNYQGTKRWLEDNLDHTDSSL
  LQDNVAFVLCLDTVGRGSSLHLHVSKPPREGTLQHAFLRELETVAAHQFPEVRFSMVHKRINLAEDVLAWEHERF
  AIRRLPAFTLSHLESHRDGQRSSIMDVRSRVDSKTLTRNTRIIAEALTRVIYNLTEKGTPPDMPVFTEQMQIQQE
  QLDSVMDWLTNQPRAAQLVDKDSTFLSTLEHHLSRYLKDVKQHHVKADKRDPEFVFYDQLKQVMNAYRVKPAVFD
  LLLAVGIAAYLGMAYVAVQHFSLLYKTVQRLLVKAKTQ

• Structural information:
  • Interpro: IPR016574  IPR007484  
  • STRING: ENSP00000246117
• Other Databases: GeneCards:  NCLN  Malacards:  NCLN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0009966	regulation of signal transduction	IBA	biological process
GO:0009966	regulation of signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0043254	regulation of protein-containing complex assembly	IDA	biological process
GO:0061635	regulation of protein complex stability	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050821	protein stabilization	IMP	biological process

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