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POM121 Gene

protein-coding   GIFtS: 56
GCID: GC07P072349

POM121 Transmembrane Nucleoporin

(Previous names: POM121 membrane glycoprotein (rat), POM121 membrane glycoprotein)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
POM121 Transmembrane Nucleoporin1 2     Nuclear Envelope Pore Membrane Protein POM 1212
POM121 Membrane Glycoprotein1 2     Nuclear Pore Membrane Protein 121 KDa2
Nuclear Envelope Pore Membrane Protein POM 121A2 3     KIAA06183
Nucleoporin Nup1212 3     NUP1213
POM121A2 3     Pore Membrane Protein Of 121 KDa3
POM121 Membrane Glycoprotein (Rat)1     POMZP35
P1452     

External Ids:    HGNC: 197021   Entrez Gene: 98832   Ensembl: ENSG000001963137   OMIM: 6005875   UniProtKB: Q96HA13   

Export aliases for POM121 gene to outside databases

Previous GC identifers: GC07P070990 GC07P071750 GC07P071762 GC07P071794 GC07P071987 GC07M070166


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for POM121 Gene:
This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component
of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor
this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on
chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been
observed. (provided by RefSeq, Jul 2013)

GeneCards Summary for POM121 Gene:
POM121 (POM121 transmembrane nucleoporin) is a protein-coding gene. Diseases associated with POM121 include triple-a syndrome, and achalasia. An important paralog of this gene is POM121C.

UniProtKB/Swiss-Prot: P121A_HUMAN, Q96HA1
Function: Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in
anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation
of cytoplasmic annulate lamellae (AL)

Gene Wiki entry for POM121 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)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the POM121 gene promoter:
         RFX1   AML1a   Pax-6   E47   Arnt   Evi-1   PPAR-gamma1   Hand1   PPAR-gamma2   Meis-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): POM121 promoter sequence
   Search Chromatin IP Primers for POM121

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POM121


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

POM121 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POM121 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P072349:  view genomic region     (about GC identifiers)

Start:
72,349,936 bp from pter      End:
72,421,979 bp from pter
Size:
72,044 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 71,682,758-71,751,660     

(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.)
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UniProtKB/Swiss-Prot: P121A_HUMAN, Q96HA1 (See protein sequence)
Recommended Name: Nuclear envelope pore membrane protein POM 121  
Size: 1249 amino acids; 127720 Da
Sequence caution: Sequence=BAA31593.2; Type=Erroneous initiation; Sequence=BAB14097.1; Type=Erroneous initiation;
Secondary accessions: A6NFS9 A8CDT4 A8K933 A8MXF9 O75115 Q96DI0 Q9H9X1 Q9Y2N3 Q9Y4S7
Alternative splicing: 3 isoforms:  Q96HA1-1   Q96HA1-2   Q96HA1-3   (No experimental confirmation available. Ref.1 (BAA31593) sequence is in conflict in position: 985:L->P)

Explore the universe of human proteins at neXtProt for POM121: NX_Q96HA1

Explore proteomics data for POM121 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys339, Lys387, Lys428
  • Modification sites at PhosphoSitePlus

  • See POM121 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001244119.1  NP_742017.1  

    ENSEMBL proteins: 
     ENSP00000378687   ENSP00000351124   ENSP00000405562   ENSP00000393020   ENSP00000257622  
    Reactome Protein details: Q96HA1

    POM121 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for POM121


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR026054 Nucleoporin
     IPR026090 POM121

    Graphical View of Domain Structure for InterPro Entry Q96HA1

    ProtoNet protein and cluster: Q96HA1

    UniProtKB/Swiss-Prot: P121A_HUMAN, Q96HA1
    Domain: Contains F-X-F-G repeats
    Similarity: Belongs to the POM121 family


    POM121 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: P121A_HUMAN, Q96HA1
    Function: Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in
    anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation
    of cytoplasmic annulate lamellae (AL)

    Animal Models:

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POM121
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POM121

    miRNA
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    miRTarBase miRNAs that target POM121:
    hsa-mir-769-3p (MIRT039111), hsa-mir-328-3p (MIRT043790), hsa-mir-484 (MIRT042124), hsa-let-7b-5p (MIRT001606), hsa-mir-1 (MIRT002756), hsa-mir-877-3p (MIRT037099), hsa-mir-30c-5p (MIRT048006), hsa-mir-98-5p (MIRT027557), hsa-mir-320a (MIRT044511), hsa-mir-222-3p (MIRT046722), hsa-mir-652-3p (MIRT039543), hsa-mir-92b-3p (MIRT040718), hsa-mir-423-3p (MIRT042536)

    Block miRNA regulation of human, mouse, rat POM121 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate POM121 (see all 59):
    hsa-miR-100* hsa-miR-3194-5p hsa-miR-4328 hsa-miR-15a hsa-miR-128 hsa-miR-485-3p hsa-let-7a-2* hsa-miR-766
    SwitchGear 3'UTR luciferase reporter plasmidPOM121 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat POM121

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    GenScript: all cDNA clones in your preferred vector: POM121 (NM_172020)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POM121

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POM121


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    P121A_HUMAN, Q96HA1: Nucleus, nuclear pore complex. Nucleus membrane; Single-pass membrane protein. Endoplasmic
    reticulum membrane; Single-pass membrane protein (By similarity). Note=Stably associated with the NPC throughout
    interphase and the endoplasmic reticulum during metaphase (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus5
    cytosol2
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope TAS--
    GO:0005643nuclear pore IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0031965nuclear membrane IEA--

    POM121 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).
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    SuperPaths for POM121 About   (see all 14)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Glucokinase by Glucokinase Regulatory Protein
    Transport of the SLBP Dependant Mature mRNA0.92
    Export of Viral Ribonucleoproteins from Nucleus0.88
    Transport of Mature mRNAs Derived from Intronless Transcripts0.92
    Transport of Ribonucleoproteins into the Host Nucleus0.88
    Transport of the SLBP independent Mature mRNA0.91
    Regulation of Glucokinase by Glucokinase Regulatory Protein0.87
    Nuclear import of Rev protein0.91
    Glucose transport0.87
    2HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    Host Interactions of HIV factors0.60
    3Interferon Signaling
    Interferon Signaling0.59
    ISG15 antiviral mechanism0.42
    Cytokine Signaling in Immune system0.59
    Antiviral mechanism by IFN-stimulated genes0.42
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    5Transport of Mature Transcript to Cytoplasm
    Transport of Mature Transcript to Cytoplasm0.93
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.93

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected Reactome Pathways for POM121 (see all 6)
        Rev-mediated nuclear export of HIV RNA
    Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear import of Rev protein
    Nuclear Pore Complex (NPC) Disassembly
    Vpr-mediated nuclear import of PICs


    1 Kegg Pathway  (Kegg details for POM121):
        RNA transport


    POM121 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POM121
    Interactions:

        GeneGlobe Interaction Network for POM121

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for POM121 (Q96HA12, 3 ENSP000002576224) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2867731 MINT-2867750 I2D: score=3 STRING: ENSP00000244769
    AP2B1P630102, 3, ENSP000003144144MINT-67325 I2D: score=5 STRING: ENSP00000314414
    COL4A3BPQ9Y5P42, 3, ENSP000003698624MINT-66052 I2D: score=5 STRING: ENSP00000369862
    RBPMSQ930622, 3, ENSP000003401764MINT-68146 I2D: score=5 STRING: ENSP00000340176
    TEX11Q8IYF32, 3, ENSP000003409954MINT-67883 I2D: score=5 STRING: ENSP00000340995
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0007077mitotic nuclear envelope disassembly TAS--
    GO:0008645hexose transport TAS--
    GO:0010827regulation of glucose transport TAS--

    POM121 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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for POM121 (P121A)



    (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 )
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    REFSEQ mRNAs for POM121 gene (2 alternative transcripts): 
    NM_001257190.2  NM_172020.4  

    Unigene Cluster for POM121:

    POM121 transmembrane nucleoporin
    Hs.655217  [show with all ESTs]
    Unigene Representative Sequence: AB014518
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395270(uc010lam.1) ENST00000358357 ENST00000434423(uc003twk.2)
    ENST00000446813 ENST00000257622(uc003twj.3)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat POM121 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate POM121 (see all 59):
    hsa-miR-100* hsa-miR-3194-5p hsa-miR-4328 hsa-miR-15a hsa-miR-128 hsa-miR-485-3p hsa-let-7a-2* hsa-miR-766
    SwitchGear 3'UTR luciferase reporter plasmidPOM121 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat POM121
    Clone
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    OriGene clones in human, mouse for POM121 (see all 6)
    OriGene ORF clones in mouse, rat for POM121
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: POM121 (NM_172020)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POM121
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POM121
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for POM121
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      QuantiTect SYBR Green Assays in human, mouse, rat POM121
      QuantiFast Probe-based Assays in human, mouse, rat POM121

    Additional mRNA sequence: 

    AB014518.1 AK001215.1 AK022555.1 AK123814.1 AK292548.1 AL080109.1 AL713666.1 BC001518.2 
    BC008794.2 BC093976.1 BC101515.1 BC107111.1 

    Selected DOTS entries (see all 54):

    DT.95128557  DT.100059442  DT.452605  DT.455962  DT.92469777  DT.101979533  DT.100878803  DT.100878800 
    DT.95145052  DT.40108690  DT.121057770  DT.100878795  DT.102838696  DT.95337481  DT.40223154  DT.100878801 
    DT.121116955  DT.75157102  DT.121057942  DT.121117114  DT.121058284  DT.121116675  DT.92469861  DT.95145146 

    Selected AceView cDNA sequences (see all 508):

    BU539209 BE275924 BQ787053 BM467440 AI363401 BF940496 AA487151 AA912218 
    BM966993 BM693776 BM672427 CA305924 AA825645 AL713666 AW337987 BM977088 
    BI054464 BQ434809 BQ433156 CA306808 AI872265 BE274996 BF476079 BM744098 

    GeneLoc Exon Structure


    (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)
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    POM121 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTTCTGAC
    POM121 Expression
    About this image

    POM121 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POM121 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655217
        Custom PCR Arrays for POM121
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat POM121
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POM121

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for POM121 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pom1211 , 5 nuclear pore membrane protein 1211, 5 74.53(n)1
    69.21(a)1
      5 (75.16 cM)5
    1079391  NM_148932.21  NP_683734.21 
     1353761415 
    chicken
    (Gallus gallus)
    Aves POM1211 POM121 transmembrane nucleoporin 60.01(n)
    52.9(a)
      417463  XM_415711.4  XP_415711.4 
    zebrafish
    (Danio rerio)
    Actinopterygii pom1216
    POM121 membrane glycoprotein (rat)
    24(a)
    1 → many
    10(36193082-36209748) ENSDARG00000055113


    ENSEMBL Gene Tree for POM121 (if available)
    TreeFam Gene Tree for POM121 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POM121 gene
    POM121C1 2  POM121L72  ENSG000001611032  POM121L22  
    4 SIMAP similar genes for POM121 using alignment to 1 protein entry:     P121A_HUMAN:
    POM121B    POM121C    POMZP3    POM121L2

    POM121 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for POM121
    PGOHUM00000232880 PGOHUM00000250945


    (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)
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    Selected SNPs for POM121 (see all 1106)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1469572531,2
    --72348558(+) TCCCAC/TCTCAG 1 -- us2k10--------
    rs1847417361,2
    --72348632(+) GAAGTC/GGGGGG 1 -- us2k10--------
    rs1896005851,2
    --72348961(+) ACCCCC/TTGAGG 1 -- us2k10--------
    rs1806749261,2
    --72349020(+) CTTTAC/TAGACT 1 -- us2k10--------
    rs1380190111,2
    --72349231(+) TCACTA/GCAACC 1 -- us2k10--------
    rs1852444641,2
    --72349300(+) AGGCAC/TACGCC 1 -- us2k10--------
    rs1417146521,2
    --72349301(+) GGCACA/GCGCCA 1 -- us2k10--------
    rs1908457291,2
    --72349346(+) ACAGGG/TTTTCA 1 -- us2k10--------
    rs1171450831,2
    F--72349788(+) CTCATA/TGGAAA 1 -- us2k11Minor allele frequency- T:0.04NA 120
    rs1148331221,2
    F--72349818(+) TGGGAA/CCGGCG 1 -- us2k11Minor allele frequency- C:0.25WA 118

    HapMap Linkage Disequilibrium report for POM121 (72349936 - 72421979 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for POM121 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1311182CNV Deletion17803354
    nsv469664CNV Loss16826518
    nsv8134CNV Loss18304495
    esv34349CNV Gain17911159
    nsv428171CNV Gain18775914
    nsv469793CNV Gain16826518
    nsv888362CNV Gain21882294
    nsv520573CNV Gain+Loss19592680
    nsv888363CNV Gain+Loss21882294
    dgv2095e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600587    OMIM disorders: --

    6 diseases for POM121:    
    About MalaCards
    triple-a syndrome    achalasia    influenza    ataxia
    hiv-1    hepatitis


    POM121 for disorders           About GeneDecksing


    Export disorders for POM121 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)
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    PubMed articles for POM121 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with POM121)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two distinct human POM121 genes: requirement for the formation of nuclear pore complexes. (PubMed id 17900573)1, 2, 3 Funakoshi T....Imamoto N. (FEBS Lett. 2007)
    2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (DNA Res. 1998)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    5. An integral membrane protein of the pore membrane domain of the nuclear envelope contains a nucleoporin-like region. (PubMed id 8335683)1, 3 Hallberg E....Blobel G. (J. Cell Biol. 1993)
    6. The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. (PubMed id 19782045)1, 9 Kind B....Huebner A. (Biochem. Biophys. Res. Commun. 2009)
    7. Capture of AT-rich chromatin by ELYS recruits POM121 and NDC1 to initiate nuclear pore assembly. (PubMed id 18596237)1, 9 Rasala B.A....Forbes D.J. (Mol. Biol. Cell 2008)
    8. Recruitment of functionally distinct membrane proteins to chromatin mediates nuclear envelope formation in vivo. (PubMed id 19620630)1, 9 Anderson D.J....Hetzer M.W. (J. Cell Biol. 2009)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells. (PubMed id 22412018)1 Roux K.J.... Burke B. (J. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 9883 HGNC: 19702 AceView: POM121 Ensembl:ENSG00000196313 euGenes: HUgn9883
    ECgene: POM121 Kegg: 9883 H-InvDB: POM121

    (According to HUGE)
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    HUGE: KIAA0618

    (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

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    NameDescription
    PharmGKB entry for POM121 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for POM121 gene:
    Search GeneIP for patents involving POM121

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



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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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