NIPA1 (NIPA magnesium transporter 1)

2018-11-01  

Identity

HGNC
NIPA1
LOCATION
15q11.2
LOCUSID
123606
ALIAS
FSP3,SLC57A1,SPG6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 123606
MIM: 608145
HGNC: 17043
Ensembl: ENSG00000170113

Variants:

dbSNP: 123606
ClinVar: 123606
TCGA: ENSG00000170113
COSMIC: NIPA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170113ENST00000337435Q7RTP0
ENSG00000170113ENST00000437912Q7RTP0
ENSG00000170113ENST00000437912A0A024R344
ENSG00000170113ENST00000557930H0YMY7
ENSG00000170113ENST00000559448H0YLP7
ENSG00000170113ENST00000561183Q7RTP0
ENSG00000170113ENST00000561183A0A024R344

Expression (GTEx)

0
10
20
30
40
50
60
70
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
386672922024Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy.0
386672922024Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy.0
366071292023Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.1
367366962023LncRNA NIPA1-SO confers atherosclerotic protection by suppressing the transmembrane protein NIPA1.2
366071292023Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.1
367366962023LncRNA NIPA1-SO confers atherosclerotic protection by suppressing the transmembrane protein NIPA1.2
303427642019Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.18
312862972019Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.5
303427642019Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.18
312862972019Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.5
297154572018SPG6 supports development of acute myeloid leukemia by regulating BMPR2-Smad-Bcl-2/Bcl-xl signaling.2
297154572018SPG6 supports development of acute myeloid leukemia by regulating BMPR2-Smad-Bcl-2/Bcl-xl signaling.2
267774362016Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.13
270842282016Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.11
267774362016Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.13

Citation

Dessen P

NIPA1 (NIPA magnesium transporter 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57706