NIPSNAP1 (nipsnap homolog 1)

2015-05-01  

Identity

HGNC
NIPSNAP1
LOCATION
22q12.2
LOCUSID
8508
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8508
MIM: 603249
HGNC: 7827
Ensembl: ENSG00000184117

Variants:

dbSNP: 8508
ClinVar: 8508
TCGA: ENSG00000184117
COSMIC: NIPSNAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184117ENST00000216121Q9BPW8
ENSG00000184117ENST00000415100H7C2U6
ENSG00000184117ENST00000437094C9JDV8
ENSG00000184117ENST00000455496F8WCR5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
309826652019NIPSNAP1 and NIPSNAP2 Act as "Eat Me" Signals for Mitophagy.15
237925892013Chromosomal structural variations during progression of a prostate epithelial cell line to a malignant metastatic state inactivate the NF2, NIPSNAP1, UGT2B17, and LPIN2 genes.9
183928472008Identification of Nipsnap1 as a novel auxiliary protein inhibiting TRPV6 activity.8
223119852012Identification of NIPSNAP1 as a nocistatin-interacting protein involving pain transmission.7
241377632010Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies.5
270307202016Involvement of NIPSNAP1, a neuropeptide nocistatin-interacting protein, in inflammatory pain.2
280112682017NIP-SNAP-1 and -2 mitochondrial proteins are maintained by heat shock protein 60.2
279987642017Mitochondrial proteins NIP-SNAP-1 and -2 are a target for the immunomodulatory activity of clarithromycin, which involves NF-κB-mediated cytokine production.1

Citation

Dessen P

NIPSNAP1 (nipsnap homolog 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-05-01

Online version: http://atlasgeneticsoncology.org/gene/55212/nipsnap1