NIPAL1 (NIPA like domain containing 1)

2018-07-01  

Identity

HGNC
NIPAL1
LOCATION
4p12
LOCUSID
152519
ALIAS
NPAL1,SLC57A3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 152519
HGNC: 27194
Ensembl: ENSG00000163293

Variants:

dbSNP: 152519
ClinVar: 152519
TCGA: ENSG00000163293
COSMIC: NIPAL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163293ENST00000295461Q6NVV3
ENSG00000163293ENST00000511123H0Y8W0
ENSG00000163293ENST00000511852D6RIY2

Expression (GTEx)

0
5
10
15
20
25
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Miscellaneous transport and binding eventsREACTOMER-HSA-5223345

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
278993762017GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.34
294643502018NIPA-like domain containing 1 is a novel tumor-promoting factor in oral squamous cell carcinoma.2

Citation

Dessen P

NIPAL1 (NIPA like domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57406/nipal1