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

NIPAL1 Gene

protein-coding   GIFtS: 41
GCID: GC04P047917

NIPA-like domain containing 1


(Previous symbol: NPAL1)
 Explore 6 diseases affiliated with
NIPAL1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NIPAL1    

Aliases
for NIPAL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NIPA-Like Domain Containing 11 2     DKFZp686A061151
NPAL11 2 3     Magnesium Transporter NIPA32
Non-Imprinted In Prader-Willi/Angelman Syndrome Region Protein 32 3     NIPA33
NIPA-Like Protein 12 3     

External Ids:    HGNC: 271941   Entrez Gene: 1525192   Ensembl: ENSG000001632937   UniProtKB: Q6NVV33   

Export aliases for NIPAL1 gene to outside databases

Previous GC identifers: GC04P047714 GC04P048018 GC04P047339


Summaries
for NIPAL1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: NIPA3_HUMAN, Q6NVV3
Function: Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+),
Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity)




Genomic Views
for NIPAL1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006238.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NIPAL1 gene promoter:
         NF-YB   CBF-B   CBF-A   NF-YA   NF-YC   CP1C   CP1A   NF-Y   CBF-C   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NIPAL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NIPAL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NIPAL1


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

Entrez Gene cytogenetic band: 4p12   Ensembl cytogenetic band:  4p12   HGNC cytogenetic band: 4p12

NIPAL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NIPAL1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P047917:  view genomic region     (about GC identifiers)

Start:
 47,916,159 bp from pter      End:
 48,042,188 bp from pter
Size:
 126,030 bases      Orientation:
 plus strand

Proteins
for NIPAL1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NIPA3_HUMAN, Q6NVV3 (See protein sequence)
Recommended Name: Magnesium transporter NIPA3  
Size: 410 amino acids; 44638 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: B3KTB0 Q68DA9

Explore the universe of human proteins at neXtProt for NIPAL1: NX_Q6NVV3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6NVV3

    • NIPAL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_997213.1  
    ENSEMBL proteins: 
     ENSP00000295461   ENSP00000425795   ENSP00000422276  

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    Uscn Proteins for NIPAL1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    NIPAL1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for NIPAL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NIPAL1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008521 Mg_trans_NIPA

    Graphical View of Domain Structure for InterPro Entry Q6NVV3

    ProtoNet protein and cluster: Q6NVV3

    UniProtKB/Swiss-Prot: NIPA3_HUMAN, Q6NVV3
    Similarity: Belongs to the NIPA family


    Function
    for NIPAL1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: NIPA3_HUMAN, Q6NVV3
    Function: Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+),
    Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity)

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    SwitchGear 3'UTR luciferase reporter plasmid: NIPAL1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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--


    NIPAL1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NIPAL1:
     Decreased Wnt reporter activit 


    Pathways & Interactions
    for NIPAL1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NIPAL1

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015693magnesium ion transport ----


    NIPAL1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NIPAL1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Search CenterWatch for drugs/clinical trials and news about NIPAL1 / NIPA3 

    Transcripts
    for NIPAL1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section
    REFSEQ mRNAs for NIPAL1 gene: 
    NM_207330.1  

    Unigene Cluster for NIPAL1:

    NIPA-like domain containing 1
    Hs.134190  [show with all ESTs]
    Unigene Representative Sequence: CR749484
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513724 ENST00000500571(uc003gxr.1) ENST00000508180 ENST00000295461(uc003gxw.3)
    ENST00000511852 ENST00000511123

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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate NIPAL1:
    hsa-miR-877* hsa-miR-4303 hsa-miR-607 hsa-miR-4328 hsa-miR-3674 hsa-miR-518f* hsa-miR-1279
    SwitchGear 3'UTR luciferase reporter plasmid: NIPAL1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK023734.1 AK095299.1 AL832997.1 BC041434.1 BC067881.1 CR749484.1 

    5 DOTS entries:

    DT.304216  DT.95217185  DT.121240868  DT.121240869  DT.312592 

    24/35 AceView cDNA sequences (see all 35):

    BC067881 NM_207330 AK095299 CB241441 AL832997 AA005203 BM848123 CD104403 
    CB989993 AI079919 H80181 CB989636 AI769290 AK023734 AU139993 AA779891 
    BG111613 CB959577 CR749484 AA385555 AI813952 CB960388 BE735930 AA005287 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NIPAL1    About this scheme

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


    ECgene alternative splicing isoforms for NIPAL1

    Expression
    for NIPAL1 gene

    (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

    NIPAL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NIPAL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See NIPAL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NIPAL1

    SOURCE GeneReport for Unigene cluster: Hs.134190
        SABiosciences Custom PCR Arrays for NIPAL1
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    In Situ
    Assay Products:     
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    Orthologs
    for NIPAL1 gene

    (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 eukaryotes.

    Orthologs for NIPAL1 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves NIPAL11 NIPA-like domain containing 1 71.57(n)
    71.67(a)    		   428783  XM_426339.2  XP_426339.2 
    lizard
    (Anolis carolinensis)    		 Reptilia NIPAL16
    		 --
    		 69(a)
    		 1 ↔ 1
    		 GL343293.1(633520-645487)
    fruit fly
    (Drosophila melanogaster)    		 Insecta spict6
    		 spichthyin
    		 42(a)
    		 1 → many
    		 2L(12704725-12706683)
    worm
    (Caenorhabditis elegans)    		 Secernentea nipa-16
    		 --
    		 44(a)
    		 1 → many
    		 III(3112795-3127109)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G387301 hypothetical protein 53.84(n)
    50.86(a)    		   830028  NM_120033.4  NP_195584.2 
    rice
    (Oryza sativa)    		 Liliopsida Os.61712 Oryza sativa (japonica cultivar-group) cDNA cloneJ033027O22, full insert sequence less 75.42(n)    AK073285.1 


    ENSEMBL Gene Tree for NIPAL1 (if available)
    TreeFam Gene Tree for NIPAL1 (if available) 

    Paralogs
    for NIPAL1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NIPAL1 gene
    NIPA12  NIPAL32  NIPAL22  NIPA22  NIPAL42  
    4 SIMAP similar genes for NIPAL1 using alignment to 3 protein entries:     NIPA3_HUMAN (see all proteins):
    NIPA2    NIPAL4    NIPA1    NIPAL2

    NIPAL1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NIPAL1
    PGOHUM00000247474


    Genomic Variants
    for NIPAL1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for NIPAL1

    Disorders / Diseases
    for NIPAL1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NIPAL1 for disorders           About GeneDecksing

    6 diseases for NIPAL1:    About MalaCards
    angelman syndrome    spastic paraplegia    hereditary spastic paraplegia    paraplegia
    ichthyosis    spasticity


    Export disorders for NIPAL1 gene to outside databases

    Publications
    for NIPAL1 gene

    (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 NIPAL1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NIPAL1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for NIPAL1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NIPAL1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 152519 HGNC: 27194 AceView: LOC152519 Ensembl:ENSG00000163293 euGenes: HUgn152519
    ECgene: NIPAL1 H-InvDB: NIPAL1

    Other Databases showing NIPAL1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NIPAL1 gene

    (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 NIPAL1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NIPAL1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NIPAL1 gene:
    Search GeneIP for patents involving NIPAL1

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



    Products
    for NIPAL1 gene

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    About This Section

     
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