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LNX1 Gene

protein-coding   GIFtS: 56
GCID: GC04M054325

Ligand Of Numb-Protein X 1, E3 Ubiquitin Protein Ligase

(Previous names: ligand of numb-protein X, ligand of numb-protein X 1)
(Previous symbol: LNX)
  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)
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Aliases
Ligand Of Numb-Protein X 1, E3 Ubiquitin Protein Ligase1 2     Ligand Of Numb-Protein X1
LNX1 2 3 5     MPDZ2
PDZRN22 3 5     E3 Ubiquitin-Protein Ligase LNX2
Ligand Of Numb-Protein X 11 3     Multi-PDZ-Domain-Containing Protein, E3 Ubiquitin-Protein Ligase LNX2
Numb-Binding Protein 12 3     EC 6.3.2.-3
PDZ Domain-Containing RING Finger Protein 22 3     

External Ids:    HGNC: 66571   Entrez Gene: 847082   Ensembl: ENSG000000722017   OMIM: 6097325   UniProtKB: Q8TBB13   

Export aliases for LNX1 gene to outside databases

Previous GC identifers: GC04M054167 GC04M054020 GC04M050271


(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 LNX1 Gene:
This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The
encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal
degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role
in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A
pseudogene, which is located on chromosome 17, has been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for LNX1 Gene:
LNX1 (ligand of numb-protein X 1, E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with LNX1 include autoimmune enteropathy, and usher syndrome, type 1c. GO annotations related to this gene include PDZ domain binding and ubiquitin-protein ligase activity. An important paralog of this gene is PARD3B.

UniProtKB/Swiss-Prot: LNX1_HUMAN, Q8TBB1
Function: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB.
E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then
directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72
of NUMB, but not that of isoform p71 or isoform p65 (By similarity)
Function: Isoform 2 provides an endocytic scaffold for IGSF5/JAM4 (By similarity)

Gene Wiki entry for LNX1 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_000004.12  NT_022853.16  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LNX1 gene promoter:
         E2F-4   E2F-3a   RFX1   E2F-5   Lmo2   E2F-2   Roaz   E2F-1   E2F   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLNX1 promoter sequence
   Search Chromatin IP Primers for LNX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LNX1


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

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

LNX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LNX1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M054325:  view genomic region     (about GC identifiers)

Start:
54,325,468 bp from pter      End:
54,567,572 bp from pter
Size:
242,105 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.)
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UniProtKB/Swiss-Prot: LNX1_HUMAN, Q8TBB1 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase LNX  
Size: 728 amino acids; 80629 Da
Subunit: Interacts with the phosphotyrosine interaction domain of all isoforms of NUMB (By similarity). Interacts
with MAGEB18 and MAGEF1. Interacts with the Coxsackievirus and adenovirus receptor CXADR. Interacts with
endogenous retrovirus K protein Np9. IGSF5/JAM4 interacts with isoform 2 through the second PDZ domain, other
isoforms may also interact with IGSF5/JAM4 (By similarity)
1 PDB 3D structure from and Proteopedia for LNX1:
3B76 (3D)    
Secondary accessions: Q4W5K7 Q8N4C2 Q96MJ7 Q9BY20
Alternative splicing: 2 isoforms:  Q8TBB1-1   Q8TBB1-2   

Explore the universe of human proteins at neXtProt for LNX1: NX_Q8TBB1

Explore proteomics data for LNX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See LNX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001119800.1  NP_116011.2  

    ENSEMBL proteins: 
     ENSP00000302879   ENSP00000263925   ENSP00000426445   ENSP00000421897   ENSP00000424364  
     ENSP00000425135   ENSP00000423344  

    LNX1 Human Recombinant Protein Products:

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    Novus Biologicals LNX1 Proteins
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    Cloud-Clone Corp. Proteins for LNX1

    LNX1 Antibody Products:

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    Cloud-Clone Corp. ELISAs for LNX1
    Cloud-Clone Corp. CLIAs for LNX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers

    5 InterPro protein domains:
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING
     IPR001478 PDZ
     IPR018957 Znf_C3HC4_RING-type
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q8TBB1

    ProtoNet protein and cluster: Q8TBB1

    2 Blocks protein domains:
    IPB001478 PDZ/DHR/GLGF domain
    IPB001841 Zn-finger


    UniProtKB/Swiss-Prot: LNX1_HUMAN, Q8TBB1
    Domain: The NPXY motif is required for the interaction with the PID domain of NUMB. It is however not sufficient
    Domain: The PDZ 1 domain participates in the interaction with the PID domain of NUMB, and participates in the
    isoform-specific ubiquitination of NUMB. The PDZ 2 domain of isoform 2 participates in the interaction with
    IGSF5/JAM4, other isoforms containing this domain may also interact with IGSF5/JAM4 (By similarity)
    Similarity: Contains 4 PDZ (DHR) domains
    Similarity: Contains 1 RING-type zinc finger


    LNX1 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: LNX1_HUMAN, Q8TBB1
    Function: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB.
    E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then
    directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72
    of NUMB, but not that of isoform p71 or isoform p65 (By similarity)
    Function: Isoform 2 provides an endocytic scaffold for IGSF5/JAM4 (By similarity)

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005515protein binding IPI16002321
    GO:0008270zinc ion binding IEA--
    GO:0030165PDZ domain binding IEA--
    GO:0046872metal ion binding ----
         
    LNX1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lnx1):
     hematopoietic system  immune system 

    LNX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lnx1tm1Lex for LNX1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LNX1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LNX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LNX1

    miRNA
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    miRTarBase miRNAs that target LNX1:
    hsa-mir-335-5p (MIRT018749), hsa-mir-26b-5p (MIRT030077)

    Block miRNA regulation of human, mouse, rat LNX1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate LNX1:
    hsa-miR-577 hsa-miR-539 hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmidLNX1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LNX1

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    GenScript: all cDNA clones in your preferred vector (see all 2): LNX1 (NM_032622)
    Sino Biological Human cDNA Clone for LNX1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LNX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LNX1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LNX1


    (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
    LNX1_HUMAN, Q8TBB1: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    LNX1 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 LNX1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Notch signaling pathway (Pathway Interaction Database)
    Notch signaling pathway

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for LNX1
        Epithelial Tight Junctions

    1 BioSystems Pathway for LNX1
        Notch signaling pathway



    UniProtKB/Swiss-Prot: LNX1_HUMAN, Q8TBB1
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including LNX1: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LNX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LNX1 (Q8TBB11, 2, 3 ENSP000002639254) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COILP384321, 2, 3, ENSP000002403164EBI-739832,EBI-945751 MINT-2877433 MINT-2855463 I2D: score=3 STRING: ENSP00000240316
    NAGKQ9UJ701, 2, 3, ENSP000002442044EBI-739832,EBI-372578 MINT-67311 I2D: score=5 STRING: ENSP00000244204
    ENSG00000206376Q96KQ72, 3MINT-68040 I2D: score=5 
    ENSG00000232045Q96KQ72, 3MINT-68040 I2D: score=5 
    ENSG00000236759Q96KQ72, 3MINT-68040 I2D: score=5 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process ----
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IEA--
    GO:0051260protein homooligomerization IEA--

    LNX1 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 LNX1

    4 HMDB Compounds for LNX1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    6 Novoseek inferred chemical compound relationships for LNX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    p-mca 51 2 17393022 (1), 15145946 (1)
    hpvs 46.9 1 15507623 (1)
    nmda 43 3 18615145 (1), 15030393 (1)
    guanylate 39.5 1 9786987 (1)
    glutamate 28 3 10414325 (1), 10896157 (1), 19153575 (1)
    tyrosine 0 2 18000562 (1), 12175853 (1)



    LNX1 for compounds           About GeneDecksing



    (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 LNX1 gene (2 alternative transcripts): 
    NM_001126328.2  NM_032622.2  

    Unigene Cluster for LNX1:

    Ligand of numb-protein X 1, E3 ubiquitin protein ligase
    Hs.518760  [show with all ESTs]
    Unigene Representative Sequence: AF237782
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306888(uc003haf.4) ENST00000263925(uc003hag.4 uc003hah.4)
    ENST00000511398 ENST00000513421 ENST00000510143 ENST00000512247 ENST00000507168
    ENST00000504299 ENST00000504605
    miRNA
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    hsa-miR-577 hsa-miR-539 hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmidLNX1 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat LNX1
      QuantiFast Probe-based Assays in human, mouse, rat LNX1

    Additional mRNA sequence: 

    AF237782.1 AK056823.1 AK294611.1 AY358326.1 BC022983.1 BC034737.1 BC094772.1 

    10 DOTS entries:

    DT.100815949  DT.411959  DT.97859095  DT.121243706  DT.452814  DT.100033442  DT.40316133  DT.100737701 
    DT.121243725  DT.97817811 

    Selected AceView cDNA sequences (see all 89):

    AI148633 T35290 BQ011669 BI825467 AA587775 BM977730 AW137673 T33125 
    T35291 BC022983 AL533617 BC034737 BM477203 AL565198 AU185793 AI923216 
    AA774861 CR598037 AI738919 T35286 F05185 BU078044 AY358326 F03307 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LNX1 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                                                                          
    SP2:                                -                                                         
    SP3:                                                                                          
    SP4:                                                                                          
    SP5:                                      -                                                   


    ECgene alternative splicing isoforms for LNX1

    (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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    LNX1 expression in normal human tissues (normalized intensities)      LNX1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGCTTGGC
    LNX1 Expression
    About this image


    LNX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
    LNX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LNX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518760

    UniProtKB/Swiss-Prot: LNX1_HUMAN, Q8TBB1
    Tissue specificity: Expressed in heart, placenta, kidney, pancreas and brain

        Pathway & Disease-focused RT2 Profiler PCR Array including LNX1: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat LNX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LNX1

    (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 animals.

    Orthologs for LNX1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lnx11 , 5 ligand of numb-protein X 11, 5 84.99(n)1
    88.95(a)1
      5 (39.52 cM)5
    169241  NM_001159577.11  NP_001153049.11 
     745924465 
    chicken
    (Gallus gallus)
    Aves LNX11 ligand of numb-protein X 1, E3 ubiquitin protein ligase 73.47(n)
    74.93(a)
      422752  XM_001232233.3  XP_001232234.1 
    lizard
    (Anolis carolinensis)
    Reptilia LNX16
    ligand of numb-protein X 1, E3 ubiquitin protein l...
    72(a)
    1 ↔ 1
    5(103511228-103642126)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lnx11 ligand of numb-protein X 1, E3 ubiquitin protein ligase 66.25(n)
    64.81(a)
      100487348  XM_002934668.2  XP_002934714.2 
    zebrafish
    (Danio rerio)
    Actinopterygii lnx11 ligand of numb-protein X 1 62.82(n)
    62.17(a)
      561226  NM_001075113.1  NP_001068581.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta inaD6
    inactivation no afterpotential D
    15(a)
    1 → many
    2R(18743211-18746317)


    ENSEMBL Gene Tree for LNX1 (if available)
    TreeFam Gene Tree for LNX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LNX1 gene
    PARD3B2  IL162  PDZD22  INADL2  LNX22  PARD32  MPDZ2  
    10 SIMAP similar genes for LNX1 using alignment to 4 protein entries:     LNX1_HUMAN (see all proteins):
    LNX2    TRIM39    CHFR    TRIM5    LONRF1    ANKIB1
    RAD18    PCGF3    TRAF4    TRIM59

    LNX1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for LNX1
    PGOHUM00000237246


    (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 LNX1 (see all 2263)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs614768811,2
    C--54308021(+) AAAGAG/-AAAAA 2 -- int11Minor allele frequency- -:0.00NA 2
    rs1477301371,2
    C--54326700(+) AGCTG-/TAAAT 
            
    TAAAT
    2 -- ut310--------
    rs1502770561,2
    C--54326791(+) ATACA-/AATC  
            
    AATCA
    2 -- ut310--------
    rs358523951,2
    C--54326792(+) AATCA-/AAT   
      C
    /ATCA
    TTTTA
    4 -- ut310--------
    rs1920401991,2
    --54326843(+) AAACAA/GTGTTG 2 -- ut310--------
    rs1857989341,2
    --54326851(+) TTGTAA/GAGTAA 2 -- ut310--------
    rs1159313791,2
    C,F--54326924(+) GAGGTG/CTAACT 2 -- ut311Minor allele frequency- C:0.03WA 118
    rs348236511,2
    C--54327032(+) TAGCC-/TATTATTT 2 -- cds10--------
    rs573668231,2
    C--54327033(+) AGCCT-/AT    
       T
    /TAT
    ATTTG
    4 -- cds11CSA 2
    rs609098721,2
    C--54327211(+) AAAAA-/ACAAAA 2 -- spa10--------

    HapMap Linkage Disequilibrium report for LNX1 (54325468 - 54567572 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for LNX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv274190CNV Insertion20981092
    esv272100CNV Insertion20981092
    esv268131CNV Insertion20981092
    esv268900CNV Insertion20981092
    esv1673226CNV Insertion17803354
    nsv879014CNV Loss21882294
    nsv516916CNV Loss19592680
    nsv437918CNV Loss16468122
    esv28169CNV Gain19812545
    nsv829936CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing LNX1:
    Glioma
    SeqTarget long-range PCR primers for resequencing LNX1
    DNA2.0 Custom Variant and Variant Library Synthesis for LNX1

    (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.)
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    OMIM gene information: 609732    OMIM disorders: --

    17 diseases for LNX1:    About MalaCards
    autoimmune enteropathy    usher syndrome, type 1c    q fever    usher syndrome
    human t-cell leukemia virus type 1    cystic fibrosis    kawasaki disease    t-cell leukemia
    glioblastoma multiforme    ataxia    leukemia    retinitis
    melanoma    prostatitis    prostate cancer    breast cancer
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for LNX1:
    Q fever

    LNX1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for LNX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    usher syndrome 59.3 1 10973247 (1)
    leukemia t-cell 49.2 1 12569363 (1)
    cystic fibrosis 22.6 1 11707463 (1)
    tumors 11.5 3 17121805 (1), 11289102 (1), 18690705 (1)
    cancer 1.51 2 17308124 (1), 9326658 (1)
    metastasis 0 1 17308124 (1)
    carcinoma 0 1 10496535 (1)

    Genetic Association Database (GAD): LNX1
    Human Genome Epidemiology (HuGE) Navigator: LNX1 (3 documents)

    Export disorders for LNX1 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 LNX1 gene, integrated from 10 sources (see all 144):
    (articles sorted by number of sources associating them with LNX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human LNX protein containing multiple PDZ domains. (PubMed id 11521506)1, 2, 3, 9 Xie Y.... Mao Y. (Biochem. Genet. 2001)
    2. MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases. (PubMed id 20864041)1, 2 Doyle J.M.... Potts P.R. (Mol. Cell 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease. (PubMed id 19132087)1, 4 Burgner D....Hibberd M.L. (PLoS Genet. 2009)
    5. Mutation and copy number analysis of LNX1 and Numbl in nervous system tumors. (PubMed id 18940473)1, 4 Blom T....Nupponen N.N. (Cancer Genet. Cytogenet. 2008)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Np9 protein of human endogenous retrovirus K interacts with ligand of numb protein X. (PubMed id 15367597)1, 2 Armbruester V.... Mueller-Lantzsch N. (J. Virol. 2004)
    8. 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. (Genome Res. 2004)
    9. The Coxsackievirus and adenovirus receptor (CAR) forms a complex with the PDZ domain-containing protein ligand-of-numb protein-X (LNX). (PubMed id 12468544)1, 2 Sollerbrant K.... Pettersson R.F. (J. Biol. Chem. 2003)
    10. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 84708 HGNC: 6657 AceView: LNX Ensembl:ENSG00000072201 euGenes: HUgn84708
    ECgene: LNX1 H-InvDB: LNX1

    (According to HUGE)
    About This Section

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      --

    (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 LNX1 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 LNX1 gene:
    Search GeneIP for patents involving LNX1

    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
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