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
145087082003Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.62
145087102003NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).50
196201822009The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.45
169828062006Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.44
171668362007NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter.44
203989082010Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.32
190919822008Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism.16
206856892010A large genome scan for rare CNVs in amyotrophic lateral sclerosis.16
206856892010A large genome scan for rare CNVs in amyotrophic lateral sclerosis.16
223781462012NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.11

Citation

Dessen P

NIPA1 (NIPA magnesium transporter 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57706/nipa1