CNEP1R1 (CTD nuclear envelope phosphatase 1 regulatory subunit 1)

2014-11-01  

Identity

HGNC
CNEP1R1
LOCATION
16q12.1
LOCUSID
255919
ALIAS
C16orf69,NEP1-R1,NEP1R1,TMEM188,TMP125
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 255919
MIM: 616869
HGNC: 26759
Ensembl: ENSG00000205423

Variants:

dbSNP: 255919
ClinVar: 255919
TCGA: ENSG00000205423
COSMIC: CNEP1R1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205423ENST00000389134H3BLY8
ENSG00000205423ENST00000427478Q8N9A8
ENSG00000205423ENST00000427478B8YCP3
ENSG00000205423ENST00000458059Q8N9A8
ENSG00000205423ENST00000562576H3BN40
ENSG00000205423ENST00000565457Q8N9A8
ENSG00000205423ENST00000565457B8YCP3
ENSG00000205423ENST00000565556H3BUT5
ENSG00000205423ENST00000566093H3BMF1
ENSG00000205423ENST00000566482Q8N9A8
ENSG00000205423ENST00000568890Q8N9A8

Expression (GTEx)

0
5
10
15
20
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
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Nuclear Envelope BreakdownREACTOMER-HSA-2980766
Depolymerisation of the Nuclear LaminaREACTOMER-HSA-4419969

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
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
387763702024Structure and mechanism of the human CTDNEP1-NEP1R1 membrane protein phosphatase complex necessary to maintain ER membrane morphology.1
387763702024Structure and mechanism of the human CTDNEP1-NEP1R1 membrane protein phosphatase complex necessary to maintain ER membrane morphology.1
255482152015The endoplasmic reticulum adaptor protein ERAdP initiates NK cell activation via the Ubc13-mediated NF-κB pathway.4
255482152015The endoplasmic reticulum adaptor protein ERAdP initiates NK cell activation via the Ubc13-mediated NF-κB pathway.4
221349222012Nuclear envelope phosphatase 1-regulatory subunit 1 (formerly TMEM188) is the metazoan Spo7p ortholog and functions in the lipin activation pathway.60
221349222012Nuclear envelope phosphatase 1-regulatory subunit 1 (formerly TMEM188) is the metazoan Spo7p ortholog and functions in the lipin activation pathway.60

Citation

Dessen P

CNEP1R1 (CTD nuclear envelope phosphatase 1 regulatory subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61930/case-report-explorer/js/favicon/favicon-16x16.png