LNPK (lunapark, ER junction formation factor)

2016-11-01  

Identity

HGNC
LNPK
LOCATION
2q31.1
LOCUSID
80856
ALIAS
KIAA1715,LNP,LNP1,NEDEHCC,Ul,ulnaless

Other Information

Locus ID:

NCBI: 80856
MIM: 610236
HGNC: 21610
Ensembl: ENSG00000144320

Variants:

dbSNP: 80856
ClinVar: 80856
TCGA: ENSG00000144320
COSMIC: LNPK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144320ENST00000272748Q9C0E8
ENSG00000144320ENST00000392540C9JL94
ENSG00000144320ENST00000409660Q9C0E8
ENSG00000144320ENST00000431754H7BZA1
ENSG00000144320ENST00000445472C9JM95
ENSG00000144320ENST00000544803Q9C0E8

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

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
227290862012ER network formation requires a balance of the dynamin-like GTPase Sey1p and the Lunapark family member Lnp1p.48
255481612015Lunapark stabilizes nascent three-way junctions in the endoplasmic reticulum.31
242237792013Protein N-myristoylation plays a critical role in the endoplasmic reticulum morphological change induced by overexpression of protein Lunapark, an integral membrane protein of the endoplasmic reticulum.25
273875052016Lunapark Is a Component of a Ubiquitin Ligase Complex Localized to the Endoplasmic Reticulum Three-way Junctions.5
300329832018Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.4
304989432019Reciprocal regulation between lunapark and atlastin facilitates ER three-way junction formation.4

Citation

Dessen P

LNPK (lunapark, ER junction formation factor)

Atlas Genet Cytogenet Oncol Haematol. 2016-11-01

Online version: http://atlasgeneticsoncology.org/gene/78593/lnpk