CNIH1 (cornichon family AMPA receptor auxiliary protein 1)

2014-11-01  

Identity

HGNC
CNIH1
LOCATION
14q22.2
LOCUSID
10175
ALIAS
CNIH,CNIH-1,CNIL,TGAM77
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10175
MIM: 611287
HGNC: 19431
Ensembl: ENSG00000100528

Variants:

dbSNP: 10175
ClinVar: 10175
TCGA: ENSG00000100528
COSMIC: CNIH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100528ENST00000216416O95406
ENSG00000100528ENST00000216416B2R4P1
ENSG00000100528ENST00000395573A8MVW4
ENSG00000100528ENST00000553660G3V5P8
ENSG00000100528ENST00000554683G3V5Q6
ENSG00000100528ENST00000556113G3V3B2
ENSG00000100528ENST00000557659G3V474
ENSG00000100528ENST00000557690G3V4K0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Cargo concentration in the ERREACTOMER-HSA-5694530

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
176070002007Cornichon regulates transport and secretion of TGFalpha-related proteins in metazoan cells.18
222118402012AMPA receptor modulation by cornichon-2 dictated by transmembrane AMPA receptor regulatory protein isoform.16
231039662012Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia.7

Citation

Dessen P

CNIH1 (cornichon family AMPA receptor auxiliary protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61935/cnih1