• Gene id: 10175

Gene Summary

• Gene Symbol: CNIH1   Gene   UCSC   Ensembl
• Aliases: CNIH, CNIH-1, CNIL, TGAM77
• Gene name: cornichon family AMPA receptor auxiliary protein 1
• Alternate names: protein cornichon homolog 1, T-cell growth-associated molecule 77, cornichon homolog,
• Gene location: 14q22.2 (54441373: 54423560)     Exons: 5     NC_000014.9
• OMIM: 611287

Protein Summary

• Protein general information: O95406  
  • Name: Protein cornichon homolog 1 (CNIH 1) (Cornichon family AMPA receptor auxiliary protein 1) (Protein cornichon homolog) (T cell growth associated molecule 77) (TGAM77)
  • Length: 144  
  • Mass: 16699
  • Tissue specificity: Highly expressed in heart, liver, skeletal muscle, pancreas, adrenal medulla and cortex, thyroid, testis, spleen, appendix, peripheral blood lymphocytes and bone marrow. Lower expression found in brain, placenta, lung, kidney, ovary, s
• Sequence:

  MAFTFAAFCYMLALLLTAALIFFAIWHIIAFDELKTDYKNPIDQCNTLNPLVLPEYLIHAFFCVMFLCAAEWLTL
  GLNMPLLAYHIWRYMSRPVMSGPGLYDPTTIMNADILAYCQKEGWCKLAFYLLAFFYYLYGMIYVLVSS

• Structural information:
  • Interpro: IPR003377  IPR033466  
  • Prosite: PS01340
  • STRING: ENSP00000216416
• Other Databases: GeneCards:  CNIH1  Malacards:  CNIH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006955	immune response	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
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: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: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: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:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray