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
333327862021Genome-wide Association Analysis Across 16,956 Patients Identifies a Novel Genetic Association Between BMP6, NIPAL1, CNGA1 and Spondylosis.5
333327862021Genome-wide Association Analysis Across 16,956 Patients Identifies a Novel Genetic Association Between BMP6, NIPAL1, CNGA1 and Spondylosis.5
294643502018NIPA-like domain containing 1 is a novel tumor-promoting factor in oral squamous cell carcinoma.7
294643502018NIPA-like domain containing 1 is a novel tumor-promoting factor in oral squamous cell carcinoma.7
278993762017GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.69
278993762017GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.69

Citation

Dessen P

NIPAL1 (NIPA like domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57406/js/gene-fusions-explorer/