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

POM121C Gene

protein-coding   GIFtS: 41
GCID: GC07M075046

POM121 Transmembrane Nucleoporin C

(Previous name: POM121 membrane glycoprotein C)
  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
POM121 Transmembrane Nucleoporin C1 2
POM121 Membrane Glycoprotein C1 2
Nuclear Pore Membrane Protein 121-22 3
Pore Membrane Protein Of 121 KDa C2 3
POM121-22 3
Nuclear Envelope Pore Membrane Protein POM 121C2

External Ids:    HGNC: 340051   Entrez Gene: 1001012672   Ensembl: ENSG000001352137   UniProtKB: A8CG343   

Export aliases for POM121C gene to outside databases

Previous GC identifers: GC07M074884 GC07M071202


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

GeneCards Summary for POM121C Gene: 
POM121C (POM121 transmembrane nucleoporin C) is a protein-coding gene. Diseases associated with POM121C include williams syndrome, and williams-beuren syndrome. GO annotations related to this gene include protein binding. An important paralog of this gene is POM121L12.

UniProtKB/Swiss-Prot: P121C_HUMAN, A8CG34
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)




(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_000007.13  NT_007933.15  NC_018918.2  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POM121C gene promoter:
         RFX1   AML1a   SREBP-1c   E47   SREBP-1b   Evi-1   PPAR-gamma1   SREBP-1a   Hand1   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for POM121C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POM121C


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

Entrez Gene cytogenetic band: 7q11.2   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

POM121C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POM121C gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M075046:  view genomic region     (about GC identifiers)

Start:
75,046,065 bp from pter      End:
75,115,568 bp from pter
Size:
69,504 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 74,379,129-74,448,632     

(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: P121C_HUMAN, A8CG34 (See protein sequence)
Recommended Name: Nuclear envelope pore membrane protein POM 121C  
Size: 1229 amino acids; 125059 Da
Subcellular location: 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)
Secondary accessions: O75115 Q9Y2N3 Q9Y4S7
Alternative splicing: 2 isoforms:  A8CG34-1   A8CG34-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for POM121C: NX_A8CG34

Explore proteomics data for POM121C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A8CG34

  • POM121C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POM121C Protein Expression
    REFSEQ proteins: NP_001092885.2  
    ENSEMBL proteins: 
     ENSP00000257665   ENSP00000414208   ENSP00000410033   ENSP00000381415  

    Human Recombinant Protein Products for POM121C: 
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    Cloud-Clone Corp. Proteins for POM121C 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    POM121C 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
    2 InterPro protein domains:
     IPR026054 Nucleoporin
     IPR026090 POM121

    Graphical View of Domain Structure for InterPro Entry A8CG34

    ProtoNet protein and cluster: A8CG34

    UniProtKB/Swiss-Prot: P121C_HUMAN, A8CG34
    Domain: Contains F-X-F-G repeats
    Similarity: Belongs to the POM121 family


    POM121C 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: P121C_HUMAN, A8CG34
    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 Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17577209
         
    POM121C for ontologies           About GeneDecksing


    Animal Models:
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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

    SuperPaths for POM121C About                                                                                                See pathways by source

    SuperPathContained pathways About
    1RNA transport
    RNA transport

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for POM121C):
        RNA transport


    POM121C for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for POM121C

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/18 Interacting proteins for POM121C (A8CG343 ENSP000004142084) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APCP250543, ENSP000002574304I2D: score=2 STRING: ENSP00000257430
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    AGR2O959943I2D: score=1 
    AP2B1P630103I2D: score=1 
    CEP55Q53EZ43I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0051028mRNA transport IEA--

    POM121C 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 POM121C (P121C)

    Search CenterWatch for drugs/clinical trials and news about POM121C / P121C

    (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 POM121C gene: 
    NM_001099415.2  

    Unigene Cluster for POM121C:

    POM121 transmembrane nucleoporin C
    Hs.712563  [show with all ESTs]
    Unigene Representative Sequence: NM_001099415
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476072 ENST00000257665(uc010lde.1) ENST00000453279(uc003udk.4)
    ENST00000473609 ENST00000473168 ENST00000439629 ENST00000479864 ENST00000398379(uc003udl.1)

    miRNA
    Products:
         
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    8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate POM121C (see all 57):
    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
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POM121C

    Additional mRNA sequence: 

    AB354586.1 AK127026.1 AK293305.1 AK293781.1 AK311407.1 AL050158.1 BC013954.2 BC082993.1 
    BC130587.1 BC130589.1 BX649044.1 

    24/40 DOTS entries (see all 40):

    DT.100878800  DT.40108690  DT.40223154  DT.121116955  DT.97862722  DT.121116908  DT.75157102  DT.95312575 
    DT.121117133  DT.121116723  DT.121116879  DT.101979533  DT.121117114  DT.121116675  DT.40132467  DT.452605 
    DT.92469787  DT.100059442  DT.121090498  DT.121116880  DT.75102100  DT.92469777  DT.92469877  DT.95128557 

    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™, 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

    POM121C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    POM121C Expression
    About this image


    See POM121C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POM121C

    SOURCE GeneReport for Unigene cluster: Hs.712563
        SABiosciences Custom PCR Arrays for POM121C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POM121C

    (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 POM121C gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    --
    47(a)
    1 → many
    19(299178-309503)
    zebrafish
    (Danio rerio)
    Actinopterygii pom1216
    POM121 membrane glycoprotein (rat)
    26(a)
    1 → many
    10(36193082-36209748)
    worm
    (Caenorhabditis elegans)
    Secernentea npp-146
    Protein NPP-14
    9(a)
    1 → many
    I(9660175-9665144)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NUP426
    Subunit of the nuclear pore complex (NPC) that loc...
    18(a)
    1 → many
    IV(843569-844861)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G106501 hypothetical protein 40.13(n)
    32.62(a)
      820234  NM_111901.3  NP_187676.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g07883001 hypothetical protein 37.92(n)
    29(a)
      4334364  NM_001058036.1  NP_001051501.1 
            Species with no ortholog for POM121C

    ENSEMBL Gene Tree for POM121C (if available)
    TreeFam Gene Tree for POM121C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for POM121C gene
    POM1211 2  POM121L122  ENSG000001823562  POM121L72  POM121L22  
    18/298 SIMAP similar genes for POM121C using alignment to 4 protein entries:     P121C_HUMAN (see all proteins) (see all similar genes):
    PMS2P3    POMZP3    POM121B    RBAK    POM121    ZNF382
    ZNF12    ZNF585A    ZNF720    ZNF33B    ZNF585B    ZNF81
    ZNF133    ZNF630    ZNF782    ZNF551    ZNF10    ZNF569

    POM121C 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

    10/1274 SNPs in POM121C are shown (see all 1274)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1507483051,2
    C--75046566(+) GCTGCC/TGGGGA 1 -- ut310--------
    rs1139758411,2
    C--75046592(+) TTCTTG/TGCACA 1 -- ut310--------
    rs1158731571,2
    C,F--75046785(+) AGAGGT/CTGGGC 1 -- ut311Minor allele frequency- C:0.04WA 118
    rs1499045031,2
    --75046794(+) GCGTGA/GCAGCA 1 -- ut310--------
    rs1450306671,2
    --75046936(+) GGTGAC/TGTAGC 1 -- ut310--------
    rs3762143821,2
    C--75047325(+) GCAGCA/GTGGGC 1 -- ut310--------
    rs2001918001,2
    C--75047550(+) GGAACC/TGGTGA 1 -- ut310--------
    rs1878466271,2
    --75047644(+) AAGATA/GAAGCT 1 -- ut310--------
    rs1923186191,2
    --75047667(+) CATTTC/TCCAAA 1 -- ut310--------
    rs3764959031,2
    C--75047944(+) CCACTA/GCCCCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for POM121C (75046065 - 75115568 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for POM121C:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv120n16CNV Deletion17901297
    nsv365453CNV Loss16902084
    nsv831035CNV Loss17160897
    nsv8156CNV Loss18304495
    nsv511367CNV Loss21212237
    nsv528969CNV Gain19592680
    esv21917CNV Gain19812545
    nsv888381CNV Gain21882294
    essv14753CNV CNV17122850
    dgv2102e1CNV Complex17122850

    SABiosciences Cancer Mutation PCR Assays
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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.)
    About This Section
    2 diseases for POM121C:    About MalaCards
    williams syndrome    williams-beuren syndrome


    POM121C for disorders           About GeneDecksing


    Export disorders for POM121C 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 POM121C gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with POM121C)
        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. (2007)
    2. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    3. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    4. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 100101267 HGNC: 34005 Ensembl:ENSG00000135213 euGenes: HUgn100101267 ECgene: POM121C Kegg: 100101267
    H-InvDB: POM121C

    (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 POM121C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for POM121C gene:
    Search GeneIP for patents involving POM121C

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



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