Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



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

TryGeneCards Plus

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

TryGeneCards Plus

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: 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000015.10  NC_018926.2  NT_078094.3  
Regulatory elements:
   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 Chromatin IP Primers for NIPA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: NIPA1_HUMAN, Q7RTP0 (See protein sequence)
Recommended Name: Magnesium transporter NIPA1  
Size: 329 amino acids; 34562 Da
Subunit: Homodimer (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


See NIPA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

ENSEMBL proteins: 
 ENSP00000337452   ENSP00000393962   ENSP00000453286   ENSP00000453722   ENSP00000453797  
 ENSP00000453237   ENSP00000440957  

NIPA1 Human Recombinant Protein Products:

Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate for NIPA1
OriGene Custom MassSpec
OriGene Custom Protein Services for NIPA1
GenScript Custom Purified and Recombinant Proteins Services for NIPA1
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for NIPA1

NIPA1 Antibody Products:

Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
OriGene Custom Antibody Services for NIPA1
Novus Biologicals NIPA1 Antibody
Abcam antibodies for NIPA1
Cloud-Clone Corp. Antibodies for NIPA1
Search ThermoFisher Antibodies for NIPA1
LSBio Antibodies in human, mouse, rat for NIPA1

NIPA1 Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for NIPA1
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for NIPA1
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for NIPA1
Cloud-Clone Corp. CLIAs for NIPA1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus
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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

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:    About this table

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


Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NIPA1
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NIPA1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NIPA1
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NIPA1

miRNA
Products:
    
miRTarBase miRNAs that target NIPA1:
hsa-mir-9-5p (MIRT021392), hsa-mir-96-5p (MIRT027921), hsa-mir-215-5p (MIRT024858), hsa-mir-192-5p (MIRT026118)

Block miRNA regulation of human, mouse, rat NIPA1 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate NIPA1 (see all 66):
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*
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for NIPA1
Predesigned siRNA for gene silencing in human, mouse, rat NIPA1

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for NIPA1

Clone
Products:
     
OriGene clones in human, mouse for NIPA1 (see all 11)
OriGene ORF clones in mouse, rat for NIPA1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): NIPA1 (NM_001142275)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NIPA1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NIPA1

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for NIPA1
Browse ESI BIO Cell Lines and PureStem Progenitors for NIPA1 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NIPA1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot
NIPA1_HUMAN, Q7RTP0: 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)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane5
endosome2
nucleus1

Gene Ontology (GO): 4 cellular component terms:    About this table

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

NIPA1 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus



    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NIPA1
Interactions:

    Search GeneGlobe Interaction Network for NIPA1

Gene Ontology (GO): 2 biological process terms:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

TryGeneCards Plus
Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
About This Section

TryGeneCards Plus

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
Products:
     
Block miRNA regulation of human, mouse, rat NIPA1 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate NIPA1 (see all 66):
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*
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for NIPA1
Predesigned siRNA for gene silencing in human, mouse, rat NIPA1
Clone
Products:
     
OriGene clones in human, mouse for NIPA1 (see all 11)
OriGene ORF clones in mouse, rat for NIPA1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): NIPA1 (NM_001142275)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NIPA1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NIPA1
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for NIPA1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NIPA1
  QuantiTect SYBR Green Assays in human, mouse, rat NIPA1
  QuantiFast Probe-based Assays in human, mouse, rat NIPA1

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 

Selected AceView cDNA sequences (see all 157):

BU618304 BM729099 BQ433728 BC044583 AI241732 AA306604 CA398064 BQ000945 
AA382746 BM802186 BX477168 AW339542 AW672996 AA355571 CF242938 BM968101 
AI241769 T36044 CA432413 CR614719 AI439250 BC025678 CA398063 AI359989 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

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

NIPA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NIPA1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.511797

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

    Custom PCR Arrays for NIPA1
Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for NIPA1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NIPA1
QuantiTect SYBR Green Assays in human, mouse, rat NIPA1
QuantiFast Probe-based Assays in human, mouse, rat NIPA1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NIPA1

(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

TryGeneCards Plus

This gene was present in the common ancestor of animals.

Orthologs for NIPA1 gene from Selected species (see all 14)    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 78.15(n)
95.56(a)
  418681  XM_003640526.2  XP_003640574.2 
lizard
(Anolis carolinensis)
Reptilia NIPA16
non imprinted in Prader-Willi/Angelman syndrome 1
92(a)
1 ↔ 1
3(111694533-111710681)
tropical clawed frog
(Xenopus tropicalis)
Amphibia nipa11 non imprinted in Prader-Willi/Angelman syndrome 1 69.56(n)
72(a)
  100488355  XM_002936985.2  XP_002937031.1 
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
33(a)
1 → many
2L(12704725-12706683)
worm
(Caenorhabditis elegans)
Secernentea nipa-16
Protein NIPA-1, isoform b (nipa-1) mRNA, complete ...
32(a)
1 → many
III(3112487-3127117) WBGene00021820


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

TryGeneCards Plus
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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

Selected SNPs for NIPA1 (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) Selected 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
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing NIPA1
DNA2.0 Custom Variant and Variant Library Synthesis for NIPA1

(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

TryGeneCards Plus
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

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

    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

    TryGeneCards Plus

    PubMed articles for NIPA1 gene, integrated from 10 sources (see all 29):
    (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. (Am. J. Hum. Genet. 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. (Hum. Mutat. 2005)
    3. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (J Psychiatr Res 2010)
    4. A large genome scan for rare CNVs in amyotrophic lateral sclerosis. (PubMed id 20685689)1, 4 Blauw H.M....van den Berg L.H. (Hum. Mol. Genet. 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. (J. Neurol. 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. (J. Proteome Res. 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. (Genome Res. 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. (Am. J. Hum. Genet. 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. (J. Neurosci. 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. (J. Biol. Chem. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 123606 HGNC: 17043 AceView: NIPA1 Ensembl:ENSG00000170113 euGenes: HUgn123606
    ECgene: NIPA1 H-InvDB: NIPA1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for NIPA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NIPA1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for NIPA1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for NIPA1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for NIPA1  
     OriGene qSTAR qPCR primer pairs in human, mouse for NIPA1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for NIPA1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NIPA1   OriGene Custom Protein Services for NIPA1  

     
     
     Block miRNA regulation of human, mouse, rat NIPA1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NIPA1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NIPA1 Predesigned siRNA for gene silencing in human, mouse, rat NIPA1
     QuantiFast Probe-based Assays in human, mouse, rat NIPA1 QuantiTect SYBR Green Assays in human, mouse, rat NIPA1
     Custom PCR Arrays for NIPA1 Search Chromatin IP Primers for NIPA1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NIPA1  Search GeneGlobe Interaction Network for NIPA1
     Regulatory tfbs in NIPA1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for NIPA1 GenScript cDNA clones with any tag delivered in your preferred vector for NIPA1
     GenScript Custom Assay Services for NIPA1 GenScript Custom overexpressing Cell Line Services for NIPA1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for NIPA1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     NIPA1 antibodies
     Antibodies for NIPA1
     See all of Abcam's Antibodies, Kits and Proteins for NIPA1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for NIPA1
     Antibodies for NIPA1
     ELISAs for NIPA1
     CLIAs for NIPA1



     Browse ESI BIO Cell Lines and PureStem Progenitors for NIPA1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NIPA1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for NIPA1
     Browse SwitchGear Promoter luciferase reporter plasmids for NIPA1
     Search ThermoFisher Antibodies for NIPA1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NIPA1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NIPA1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NIPA1
     LSBio Antibodies in human, mouse, rat for NIPA1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NIPA1 gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4