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Aliases for NIPA1 Gene

Aliases for NIPA1 Gene

  • Non Imprinted In Prader-Willi/Angelman Syndrome 1 2 3
  • SPG6 3 4 6
  • Non-Imprinted In Prader-Willi/Angelman Syndrome Region Protein 1 3 4
  • Spastic Paraplegia 6 Protein 3 4
  • Non-Imprinted In Prader-Willi/Angelman Syndrome 1 3
  • Spastic Paraplegia 6 (Autosomal Dominant) 2
  • Magnesium Transporter NIPA1 3
  • FSP3 3

External Ids for NIPA1 Gene

Previous Symbols for NIPA1 Gene

  • SPG6

Summaries for NIPA1 Gene

Entrez Gene Summary for NIPA1 Gene

  • This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]

GeneCards Summary for NIPA1 Gene

NIPA1 (Non Imprinted In Prader-Willi/Angelman Syndrome 1) is a Protein Coding gene. Diseases associated with NIPA1 include spastic paraplegia 6 and spastic paraplegia 6, autosomal dominant. GO annotations related to this gene include magnesium ion transmembrane transporter activity. An important paralog of this gene is NIPAL3.

UniProtKB/Swiss-Prot for NIPA1 Gene

  • Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity).

Gene Wiki entry for NIPA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NIPA1 Gene

Genomics for NIPA1 Gene

Genomic Location for NIPA1 Gene

Start:
22,773,063 bp from pter
End:
22,829,791 bp from pter
Size:
56,729 bases
Orientation:
Plus strand

Genomic View for NIPA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NIPA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIPA1 Gene

Regulatory Elements for NIPA1 Gene

Proteins for NIPA1 Gene

  • Protein details for NIPA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTP0-NIPA1_HUMAN
    Recommended name:
    Magnesium transporter NIPA1
    Protein Accession:
    Q7RTP0
    Secondary Accessions:
    • B2RA76
    • Q5HYA9
    • Q7KZB0
    • Q86XW4

    Protein attributes for NIPA1 Gene

    Size:
    329 amino acids
    Molecular mass:
    34562 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAC67707.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC67707.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for NIPA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NIPA1 Gene

Proteomics data for NIPA1 Gene at MOPED

Post-translational modifications for NIPA1 Gene

No Post-translational modifications

Other Protein References for NIPA1 Gene

No data available for DME Specific Peptides for NIPA1 Gene

Domains for NIPA1 Gene

Protein Domains for NIPA1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

NIPA1_HUMAN
Family:
  • Belongs to the NIPA family.:
    • Q7RTP0
genes like me logo Genes that share domains with NIPA1: view

No data available for Gene Families for NIPA1 Gene

Function for NIPA1 Gene

Molecular function for NIPA1 Gene

UniProtKB/Swiss-Prot Function: Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity).

Gene Ontology (GO) - Molecular Function for NIPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015095 magnesium ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with NIPA1: view

miRNA for NIPA1 Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for NIPA1 Gene

Localization for NIPA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NIPA1 Gene

Cell membrane; Multi-pass membrane protein. Early endosome. Note=Recruited to the cell membrane in response to low extracellular magnesium. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NIPA1 Gene COMPARTMENTS Subcellular localization image for NIPA1 gene
Compartment Confidence
plasma membrane 5
endosome 2
nucleus 1

Gene Ontology (GO) - Cellular Components for NIPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NIPA1: view

Pathways for NIPA1 Gene

SuperPathways for NIPA1 Gene

No Data Available

Interacting Proteins for NIPA1 Gene

Gene Ontology (GO) - Biological Process for NIPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0015693 magnesium ion transport IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with NIPA1: view

No data available for Pathways by source for NIPA1 Gene

Transcripts for NIPA1 Gene

Unigene Clusters for NIPA1 Gene

Non imprinted in Prader-Willi/Angelman syndrome 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NIPA1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d
SP1: - -
SP2: -
SP3: - - - - - -
SP4: - - -
SP5:

Relevant External Links for NIPA1 Gene

GeneLoc Exon Structure for
NIPA1
ECgene alternative splicing isoforms for
NIPA1

Expression for NIPA1 Gene

mRNA expression in normal human tissues for NIPA1 Gene

mRNA differential expression in normal tissues according to GTEx for NIPA1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (6.1) and Brain - Substantia nigra (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for NIPA1 Gene

SOURCE GeneReport for Unigene cluster for NIPA1 Gene Hs.511797

mRNA Expression by UniProt/SwissProt for NIPA1 Gene

Q7RTP0-NIPA1_HUMAN
Tissue specificity: Widely expressed with highest levels in neuronal tissues.
genes like me logo Genes that share expressions with NIPA1: view

Orthologs for NIPA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NIPA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NIPA1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NIPA1 36
  • 92.59 (n)
  • 99.38 (a)
NIPA1 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NIPA1 36
  • 92.01 (n)
  • 99.68 (a)
NIPA1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nipa1 36
  • 91.56 (n)
  • 99.69 (a)
Nipa1 16
Nipa1 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NIPA1 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NIPA1 37
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nipa1 36
  • 91.77 (n)
  • 99.37 (a)
chicken
(Gallus gallus)
Aves NIPA1 36
  • 78.15 (n)
  • 95.56 (a)
NIPA1 37
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NIPA1 37
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nipa1 36
  • 69.56 (n)
  • 72 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.24227 36
nipa1 36
  • 61.81 (n)
  • 61.26 (a)
nipa1 37
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta spict 37
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nipa-1 37
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 19 (a)
ManyToMany
Species with no ortholog for NIPA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NIPA1 Gene

ENSEMBL:
Gene Tree for NIPA1 (if available)
TreeFam:
Gene Tree for NIPA1 (if available)

Paralogs for NIPA1 Gene

Paralogs for NIPA1 Gene

Selected SIMAP similar genes for NIPA1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with NIPA1: view

Variants for NIPA1 Gene

Sequence variations from dbSNP and Humsavar for NIPA1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs1059774 -- 22,825,366(+) CATGA(C/G)TGTAT utr-variant-3-prime
rs1991922 -- 22,813,674(-) ATACA(C/T)CCATC intron-variant
rs2053123 -- 22,796,150(-) AGCCC(C/T)AGGAG intron-variant
rs2082628 -- 22,803,952(-) cctgt(A/G)atccc intron-variant
rs2082629 -- 22,803,901(-) gagct(C/T)gagat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NIPA1 Gene

Variant ID Type Subtype PubMed ID
dgv44n16 CNV Insertion 17901297
esv2751489 CNV Gain 17911159
esv34233 CNV Loss 17911159
essv13315 CNV CNV 17122850
nsv437797 CNV Loss 16327808
nsv511042 OTHER Inversion 20534489
nsv433429 CNV Gain 18776910
nsv903495 CNV Gain 21882294
esv2474417 CNV Loss 19546169
nsv442359 CNV CNV 18776908
dgv696e1 CNV Complex 17122850
dgv2234n71 CNV Loss 21882294
dgv2235n71 CNV Gain 21882294
dgv2236n71 CNV Gain+Loss 21882294
nsv433290 CNV Loss 18776910
dgv2239n71 CNV Gain 21882294
nsv456612 CNV Loss 19166990
dgv287n27 CNV Gain 19166990
nsv471225 CNV Gain 18288195
nsv471226 CNV Loss 18288195
esv34463 CNV Gain 17911159
dgv2242n71 CNV Gain 21882294
nsv456636 CNV Loss 19166990
dgv2243n71 CNV Gain 21882294
nsv832926 CNV Gain+Loss 17160897
nsv903559 CNV Gain+Loss 21882294
nsv903560 CNV Loss 21882294
dgv2246n71 CNV Gain 21882294
dgv2247n71 CNV Gain 21882294
nsv469667 CNV Loss 16826518
dgv9n31 CNV Deletion 19718026
nsv428297 CNV Gain+Loss 18775914
dgv2248n71 CNV Gain 21882294
nsv471378 CNV Deletion 19718026
nsv94557 CNV Loss 16902084
nsv1460 CNV Loss 18451855
esv2749407 CNV Deletion 23290073
esv2413322 CNV Deletion 18987734
esv4116 CNV Deletion 18987735
esv2669861 CNV Deletion 23128226
esv1007853 CNV Deletion 20482838
esv1025847 CNV Deletion 17803354
esv2749409 CNV Deletion 23290073

Relevant External Links for NIPA1 Gene

HapMap Linkage Disequilibrium report
NIPA1
Human Gene Mutation Database (HGMD)
NIPA1

Disorders for NIPA1 Gene

(1) OMIM Diseases for NIPA1 Gene (608145)

UniProtKB/Swiss-Prot

NIPA1_HUMAN
  • Spastic paraplegia 6, autosomal dominant (SPG6) [MIM:600363]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:14508710, ECO:0000269 PubMed:15643603}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for NIPA1 Gene

(3) Novoseek inferred disease relationships for NIPA1 Gene

Disease -log(P) Hits PubMed IDs
spastic paraplegia hereditary autosomal dominant 95 3
spastic paraplegia hereditary 91.2 2
spastic paraplegia 75.9 2

Relevant External Links for NIPA1

Genetic Association Database (GAD)
NIPA1
Human Genome Epidemiology (HuGE) Navigator
NIPA1
genes like me logo Genes that share disorders with NIPA1: view

Publications for NIPA1 Gene

  1. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). (PMID: 14508710) Rainier S. … Fink J.K. (Am. J. Hum. Genet. 2003) 2 3 4 23
  2. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. (PMID: 15643603) Chen S. … Wang Y. (Hum. Mutat. 2005) 3 4 23
  3. Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). (PMID: 16267846) Munhoz R.P. … Rogaeva E. (Mov. Disord. 2006) 3 23
  4. NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter. (PMID: 17166836) Goytain A. … Quamme G.A. (J. Biol. Chem. 2007) 3 23
  5. Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia. (PMID: 17928003) Liu S.G. … Ma X. (J. Neurol. Sci. 2008) 3 23

Products for NIPA1 Gene

Sources for NIPA1 Gene

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