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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NIPA1 Gene

protein-coding   GIFtS: 49
GCID: GC15M023043

Non Imprinted In Prader-Willi/Angelman Syndrome 1

(Previous name: spastic paraplegia 6 (autosomal dominant))
(Previous symbol: SPG6)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Non Imprinted In Prader-Willi/Angelman Syndrome 11 2     Spastic Paraplegia 6 (Autosomal Dominant)1
SPG61 2 3 5     FSP32
Non-Imprinted In Prader-Willi/Angelman Syndrome Region Protein 12 3     Magnesium Transporter NIPA12
Spastic Paraplegia 6 Protein2 3     Non-Imprinted In Prader-Willi/Angelman Syndrome 12

External Ids:    HGNC: 170431   Entrez Gene: 1236062   Ensembl: ENSG000001701137   OMIM: 6081455   UniProtKB: Q7RTP03   

Export aliases for NIPA1 gene to outside databases

Previous GC identifers: GC15M020462 GC00U914364 GC15M020594 GC15M001354


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 microdeletion 15q11.2. GO annotations related to this gene include magnesium ion transmembrane transporter activity. An important paralog of this gene is NIPAL3.

UniProtKB/Swiss-Prot: NIPA1_HUMAN, Q7RTP0
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 Wiki entry for NIPA1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_078094.2  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NIPA1 gene promoter:
         AREB6   MZF-1   RREB-1   Roaz   C/EBPalpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for NIPA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NIPA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q11.2   Ensembl cytogenetic band:  15q11.2   HGNC cytogenetic band: 15q11.2

NIPA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NIPA1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M023043:  view genomic region     (about GC identifiers)

Start:
23,043,277 bp from pter      End:
23,100,005 bp from pter
Size:
56,729 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NIPA1_HUMAN, Q7RTP0 (See protein sequence)
Recommended Name: Magnesium transporter NIPA1  
Size: 329 amino acids; 34562 Da
Subunit: Homodimer (By similarity)
Subcellular location: Cell membrane; Multi-pass membrane protein (Potential). Early endosome (By similarity).
Note=Recruited to the cell membrane in response to low extracellular magnesium (By similarity)
Sequence caution: Sequence=BAC67707.1; Type=Erroneous initiation; Sequence=BAC67707.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part;
Secondary accessions: B2RA76 Q5HYA9 Q7KZB0 Q86XW4
Alternative splicing: 2 isoforms:  Q7RTP0-1   Q7RTP0-2   

Explore the universe of human proteins at neXtProt for NIPA1: NX_Q7RTP0

Explore proteomics data for NIPA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7RTP0

  • NIPA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NIPA1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001135747.1  NP_653200.2  

    ENSEMBL proteins: 
     ENSP00000337452   ENSP00000393962   ENSP00000453286   ENSP00000453722   ENSP00000453797  
     ENSP00000453237   ENSP00000440957  

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    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005769early endosome IEA--
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    NIPA1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR008521 Mg_trans_NIPA

    Graphical View of Domain Structure for InterPro Entry Q7RTP0

    ProtoNet protein and cluster: Q7RTP0

    UniProtKB/Swiss-Prot: NIPA1_HUMAN, Q7RTP0
    Similarity: Belongs to the NIPA family


    NIPA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NIPA1_HUMAN, Q7RTP0
    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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015095magnesium ion transmembrane transporter activity IEA--
         
    NIPA1 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NIPA1

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0015693magnesium ion transport ----

    NIPA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NIPA1

    Search CenterWatch for drugs/clinical trials and news about NIPA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NIPA1 gene (2 alternative transcripts): 
    NM_001142275.1  NM_144599.4  

    Unigene Cluster for NIPA1:

    Non imprinted in Prader-Willi/Angelman syndrome 1
    Hs.511797  [show with all ESTs]
    Unigene Representative Sequence: NM_144599
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337435(uc001yvc.3 uc001yvd.3 uc001yve.3) ENST00000437912
    ENST00000559448 ENST00000561183 ENST00000557930 ENST00000560069 ENST00000560105
    ENST00000538684
    miRNA
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    hsa-miR-134 hsa-miR-519a hsa-miR-3148 hsa-miR-130b hsa-miR-877 hsa-miR-4324 hsa-let-7i hsa-miR-138-1*
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    Additional mRNA sequence: 

    AB089319.1 AK057846.1 AK314073.1 BC025678.1 BX648722.1 

    10 DOTS entries:

    DT.437484  DT.40107417  DT.92044496  DT.100020976  DT.91738716  DT.442962  DT.121067137  DT.121067199 
    DT.100680962  DT.100775180 

    24/157 AceView cDNA sequences (see all 157):

    BK001020 AA323042 AW339542 CA398063 AI241769 BX477168 BM758148 CR599873 
    BQ433728 NM_144599 AI241732 T36044 BX504330 AA905257 AW672996 CA432413 
    CA398064 BM802186 BU147357 BM729099 BE502247 AI439250 BC044583 AA355571 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NIPA1    About this scheme

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


    ECgene alternative splicing isoforms for NIPA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NIPA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NIPA1 Expression
    About this image


    See NIPA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NIPA1

    SOURCE GeneReport for Unigene cluster: Hs.511797

    UniProtKB/Swiss-Prot: NIPA1_HUMAN, Q7RTP0
    Tissue specificity: Widely expressed with highest levels in neuronal tissues

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NIPA1 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nipa11 , 5 non imprinted in Prader-Willi/Angelman syndrome 1 homolog more1, 5 91.56(n)1
    99.69(a)1
      7 (33.42 cM)5
    2332801  NM_153578.21  NP_705806.11 
     559775675 
    chicken
    (Gallus gallus)
    Aves NIPA11 non imprinted in Prader-Willi/Angelman syndrome 1 72.41(n)
    85.54(a)
      418681  XM_003640526.1  XP_003640574.1 
    lizard
    (Anolis carolinensis)
    Reptilia NIPA16
    Uncharacterized protein
    91(a)
    1 ↔ 1
    3(111694533-111710681)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.242272 Transcribed sequence with weak similarity to protein more 69.18(n)    CK395911.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta spict6
    spichthyin
    32(a)
    1 → many
    2L(12704725-12706683)
    worm
    (Caenorhabditis elegans)
    Secernentea nipa-16
    Protein NIPA-1, isoform a
    33(a)
    1 → many
    III(3112803-3127117)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NIPA1 gene
    NIPAL32  NIPAL12  NIPAL22  NIPAL42  NIPA22  
    3 SIMAP similar genes for NIPA1 using alignment to 7 protein entries:     NIPA1_HUMAN (see all proteins):
    NIPAL1    NIPA2    NIPAL4

    NIPA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1038 SNPs in NIPA1 are shown (see all 1038)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0234414
    Spastic paraplegia 6, autosomal dominant (SPG6)4--see VAR_0234412 G R mis40--------
    VAR_0234404
    Spastic paraplegia 6, autosomal dominant (SPG6)4--see VAR_0234402 T R mis40--------
    rs1048944901,2
    Cpathogenic13055198(-) CGTTCA/C/GGGTGA 6 R G mis10--------
    rs1048944961,2
    Cpathogenic123086278(-) GTCCAC/GGTTCG 3 T R mis1 int10--------
    rs1893109671,2
    C--3037081(+) AGCCAA/CCACAC 2 -- ds50010--------
    rs620011081,2
    C--3037092(+) CTGGCC/TCACAG 2 -- ds50013Minor allele frequency- T:0.07NA EA 242
    rs734126801,2
    C,F--3037106(+) GACATT/CTTCTA 2 -- ds50012Minor allele frequency- C:0.21WA 120
    rs344814261,2
    C--3037149(-) AAAAA-/AGACAG 2 -- ds50011Minor allele frequency- A:0.00CSA 2
    rs1142321841,2
    C,F--3037212(+) ATCTCG/CGTCAC 2 -- ds50011Minor allele frequency- C:0.04WA 118
    rs1439232821,2
    --3037294(+) GCACCA/CCCATG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for NIPA1 (23043277 - 23100005 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/43 variations for NIPA1 (see all 43):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1025847CNV Deletion17803354
    esv4116CNV Deletion18987735
    esv2749409CNV Deletion23290073
    esv2669861CNV Deletion23128226
    esv2749407CNV Deletion23290073
    dgv9n31CNV Deletion19718026
    esv2413322CNV Deletion18987734
    esv1007853CNV Deletion20482838
    nsv471378CNV Deletion19718026
    dgv44n16CNV Insertion17901297


    Human Gene Mutation Database (HGMD): NIPA1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608145   
    OMIM disorders: 600363  
    UniProtKB/Swiss-Prot: NIPA1_HUMAN, Q7RTP0
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 13 diseases for NIPA1:    About MalaCards
    spastic paraplegia 6    microdeletion 15q11.2    spasticity    paraplegia
    angelman syndrome    hereditary spastic paraplegia    autosomal recessive congenital ichthyosis    ichthyosis
    prader-willi syndrome    amyotrophic lateral sclerosis    lateral sclerosis    multiple sclerosis
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for NIPA1:
    Paraplegia     Angelman syndrome

    NIPA1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for NIPA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spastic paraplegia hereditary autosomal dominant 95 3 14508710 (1), 17928003 (1), 15643603 (1)
    spastic paraplegia hereditary 91.2 2 16267846 (1), 19738379 (1)
    spastic paraplegia 75.9 2 16267846 (1), 15317751 (1)

    Genetic Association Database (GAD): NIPA1
    Human Genome Epidemiology (HuGE) Navigator: NIPA1 (3 documents)

    Export disorders for NIPA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NIPA1 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with NIPA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). (PubMed id 14508710)1, 2, 3, 9 Rainier S.... Fink J.K. (2003)
    2. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. (PubMed id 15643603)1, 2, 9 Chen S.... Wang Y. (2005)
    3. Comprehensive copy number variant (CNV) analysis of n euronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (2010)
    4. A large genome scan for rare CNVs in amyotrophic late ral sclerosis. (PubMed id 20685689)1, 4 Blauw H.M....van den Berg L.H. (2010)
    5. The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. (PubMed id 17420921)1, 4 DeLuca G.C....Ebers G.C. (2007)
    6. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    7. Analysis of mRNA with microsomal fractionation using a SAGE-based DNA microarray system facilitates identification of the genes encoding secretory proteins. (PubMed id 12805275)1, 2 Toyoda N.... Matsushima K. (2003)
    8. Identification 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. (PubMed id 14508708)1, 2 Chai J.-H.... Nicholls R.D. (2003)
    9. Hereditary 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. (PubMed id 19091982)1, 9 Zhao J....Hedera P. (2008)
    10. NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter. (PubMed id 17166836)1, 9 Goytain A....Quamme G.A. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 123606 HGNC: 17043 AceView: NIPA1 Ensembl:ENSG00000170113 euGenes: HUgn123606
    ECgene: NIPA1 H-InvDB: NIPA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NIPA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NIPA1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NIPA1 gene:
    Search GeneIP for patents involving NIPA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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