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LITAF Gene

protein-coding   GIFtS: 63
GCID: GC16M011641

Lipopolysaccharide-Induced TNF Factor

  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
Lipopolysaccharide-Induced TNF Factor1 2     TP53I72
Small Integral Membrane Protein Of Lysosome/Late Endosome2 3     Lipopolysaccharide-Induced TNF-Alpha Factor2
PIG72 3     Lipopolysaccharide-Induced Tumor Necrosis Factor-Alpha Factor2
SIMPLE2 3     Tumor Protein P53 Inducible Protein 72
LPS-Induced TNF-Alpha Factor2 3     CMT1C5
P53-Induced Gene 7 Protein2 3     

External Ids:    HGNC: 168411   Entrez Gene: 95162   Ensembl: ENSG000001890677   OMIM: 6037955   UniProtKB: Q997323   

Export aliases for LITAF gene to outside databases

Previous GC identifers: GC16M011795 GC16M011608 GC16M011549


(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 LITAF Gene:
Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis
factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha
factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter
region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppresor p53 and has been
implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C
(CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively
spliced transcript variants have been found for this gene. (provided by RefSeq, Oct 2008)

GeneCards Summary for LITAF Gene:
LITAF (lipopolysaccharide-induced TNF factor) is a protein-coding gene. Diseases associated with LITAF include charcot-marie-tooth neuropathy type 1c, and charcot-marie-tooth disease type 1c. GO annotations related to this gene include WW domain binding and signal transducer activity. An important paralog of this gene is CDIP1.

UniProtKB/Swiss-Prot: LITAF_HUMAN, Q99732
Function: Probable role in regulating transcription of specific genes. May regulate through NFKB1 the expression
of the CCL2/MCP-1 chemokine. May play a role in tumor necrosis factor alpha (TNF-alpha) gene expression

Gene Wiki entry for LITAF 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_000016.10  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LITAF gene promoter:
         RORalpha1   AML1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): LITAF promoter sequence
   Search Chromatin IP Primers for LITAF

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


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

Entrez Gene cytogenetic band: 16p13.13   Ensembl cytogenetic band:  16p13.13   HGNC cytogenetic band: 16p13.3-p12

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M011641:  view genomic region     (about GC identifiers)

Start:
11,641,578 bp from pter      End:
11,730,237 bp from pter
Size:
88,660 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: LITAF_HUMAN, Q99732 (See protein sequence)
Recommended Name: Lipopolysaccharide-induced tumor necrosis factor-alpha factor  
Size: 161 amino acids; 17107 Da
Subunit: Interacts with NEDD4 (By similarity). Interacts with WWOX. Isoform 2 may interact with STAT6
Secondary accessions: D3DUG1 G5E9K0 Q05DW0 Q9C0L6
Alternative splicing: 3 isoforms:  Q99732-1   Q99732-2   Q99732-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LITAF: NX_Q99732

Explore proteomics data for LITAF at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys159
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_001129944.1  NP_001129945.1  NP_004853.2  

    ENSEMBL proteins: 
     ENSP00000459533   ENSP00000397958   ENSP00000340118   ENSP00000459138   ENSP00000459603  
     ENSP00000459094   ENSP00000460873   ENSP00000458836   ENSP00000461667   ENSP00000461813  
     ENSP00000460743   ENSP00000458871   ENSP00000458981   ENSP00000460133   ENSP00000459913  
     ENSP00000459898   ENSP00000459026   ENSP00000458538   ENSP00000371231  

    LITAF Human Recombinant Protein Products:

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    Novus Biologicals LITAF Proteins
    Novus Biologicals LITAF Lysates
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    Cloud-Clone Corp. Proteins for LITAF

    LITAF Antibody Products:

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    LITAF Assay Products:

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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR006629 LITAF

    Graphical View of Domain Structure for InterPro Entry Q99732

    ProtoNet protein and cluster: Q99732

    UniProtKB/Swiss-Prot: LITAF_HUMAN, Q99732
    Domain: The WW-binding motif mediates interaction with WWOX and, probably NEDD4
    Similarity: Belongs to the CDIP1/LITAF family


    LITAF 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: LITAF_HUMAN, Q99732
    Function: Probable role in regulating transcription of specific genes. May regulate through NFKB1 the expression
    of the CCL2/MCP-1 chemokine. May play a role in tumor necrosis factor alpha (TNF-alpha) gene expression
    Induction: By bacterial lipopolysaccharides (LPS) or p53/TP53. In monocytes by the Bacillus Calmette-Guerin (BCG)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IMP12761501
    GO:0005515protein binding IPI15064722
    GO:0050699WW domain binding IPI15064722
         
    LITAF for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Litaf):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  nervous system 

    LITAF for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Litaftm1.1Ics for LITAF

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target LITAF:
    hsa-mir-128-3p (MIRT022102), hsa-mir-124-3p (MIRT002728), hsa-mir-320a (MIRT044539), hsa-mir-7-5p (MIRT025880), hsa-mir-375 (MIRT019921), hsa-mir-27a-3p (MIRT028706)

    Block miRNA regulation of human, mouse, rat LITAF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LITAF (see all 32):
    hsa-miR-548k hsa-miR-106a hsa-miR-15a hsa-miR-450a hsa-miR-605 hsa-miR-128 hsa-miR-124 hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidLITAF 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LITAF
    Predesigned siRNA for gene silencing in human, mouse, rat LITAF

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

    Clone
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    OriGene clones in human, mouse for LITAF (see all 16)
    OriGene ORF clones in mouse, rat for LITAF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): LITAF (NM_004862)
    Sino Biological Human cDNA Clone for LITAF
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LITAF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LITAF

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for LITAF 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LITAF


    (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
    LITAF_HUMAN, Q99732: Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Associated with
    membranes of lysosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    lysosome5
    vacuole5
    plasma membrane4
    endosome2
    extracellular2
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005765lysosomal membrane IDA11274176
    GO:0005794Golgi apparatus IMP16118794

    LITAF 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 LITAF About                                                                                                See pathways by source

    SuperPathContained pathways About
    1NF-kappaB Signaling
    NF-kappaB Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for LITAF
        NF-kappaB Signaling




    LITAF for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for LITAF

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

    Selected Interacting proteins for LITAF (Q997321, 2, 3 ENSP000003401184) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COMTP219642, 3, ENSP000003545114MINT-65288 I2D: score=4 STRING: ENSP00000354511
    RADILQ96JH82, 3MINT-65289 I2D: score=3 
    NEDD4P469341, 3, ENSP000003455304EBI-725647,EBI-726944 I2D: score=2 STRING: ENSP00000345530
    TSG101Q998161, ENSP000002519684EBI-725647,EBI-346882 STRING: ENSP00000251968
    NFATC2Q134693I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001817regulation of cytokine production IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS10200294
    GO:0006915apoptotic process IEA--
    GO:0007165signal transduction IMP12761501

    LITAF 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 LITAF

    1 Novoseek inferred chemical compound relationship for LITAF gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 4.44 2 18533723 (1), 2029872 (1)



    LITAF 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 LITAF gene (3 alternative transcripts): 
    NM_001136472.1  NM_001136473.1  NM_004862.3  

    Unigene Cluster for LITAF:

    Lipopolysaccharide-induced TNF factor
    Hs.459940  [show with all ESTs]
    Unigene Representative Sequence: NM_004862
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000571688(uc002dbd.3) ENST00000413364(uc002dba.3 uc002dbb.3)
    ENST00000339430(uc002daz.3) ENST00000570904 ENST00000571459 ENST00000575426
    ENST00000573332 ENST00000572255 ENST00000576036 ENST00000574763 ENST00000571627
    ENST00000570798 ENST00000574701 ENST00000571976 ENST00000574703(uc002dbe.3)
    ENST00000574848 ENST00000571277 ENST00000576334
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat LITAF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LITAF (see all 32):
    hsa-miR-548k hsa-miR-106a hsa-miR-15a hsa-miR-450a hsa-miR-605 hsa-miR-128 hsa-miR-124 hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidLITAF 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for LITAF
    Predesigned siRNA for gene silencing in human, mouse, rat LITAF
    Clone
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    OriGene clones in human, mouse for LITAF (see all 16)
    OriGene ORF clones in mouse, rat for LITAF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): LITAF (NM_004862)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LITAF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LITAF
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for LITAF
    OriGene qSTAR qPCR primer pairs in human, mouse for LITAF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LITAF
      QuantiTect SYBR Green Assays in human, mouse, rat LITAF
      QuantiFast Probe-based Assays in human, mouse, rat LITAF

    Additional mRNA sequence: 

    AB034747.1 AK095955.1 AK130788.1 AK314519.1 BC000053.2 BC008309.1 BC016491.1 BC039840.1 
    BC046154.1 BC065293.1 BC096063.1 BC096064.1 BC096065.1 BC096066.1 BC101401.1 BC101402.1 
    BC101969.1 BC107713.1 BX537543.1 NR_024320.1 U77396.1 

    Selected DOTS entries (see all 30):

    DT.101984829  DT.99934359  DT.100853157  DT.449383  DT.120713013  DT.95123966  DT.100703488  DT.95172075 
    DT.100853152  DT.92450101  DT.120713053  DT.120713187  DT.100853158  DT.120713104  DT.95172074  DT.100038190 
    DT.100668995  DT.100853146  DT.100853160  DT.102832854  DT.120713067  DT.100645120  DT.100853156  DT.102832853 

    Selected AceView cDNA sequences (see all 694):

    AW166929 AA340530 BP380116 AA988263 AA173910 AI146931 CK903723 BG953910 
    CR610758 AI963613 BQ433210 AI281359 AA625937 AI146776 AW510394 BU682906 
    BM471125 AL558198 AI472853 BE303025 AI269841 BM763583 AW168310 AI709132 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LITAF (see all 15)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e · 13f · 13g ·
    SP1:                                      -     -           -     -                 -     -           -     -     -                                             
    SP2:                                      -     -     -     -     -                 -     -           -                                                         
    SP3:                                      -           -     -     -                 -     -           -     -     -                                             
    SP4:        -     -     -     -     -     -     -     -     -     -                 -     -           -     -     -                                             
    SP5:                    -     -     -     -     -     -     -     -                 -     -           -                                                         

    ExUns: 13h · 13i
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for LITAF

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


    LITAF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Mesoderm (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    LITAF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LITAF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.459940

    UniProtKB/Swiss-Prot: LITAF_HUMAN, Q99732
    Tissue specificity: Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral
    blood leukocytes, lymph nodes and spleen

        Custom PCR Arrays for LITAF
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    QuantiFast Probe-based Assays in human, mouse, rat LITAF
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LITAF

    (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 LITAF gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Litaf1 , 5 LPS-induced TN factor1, 5 80.95(n)1
    85.71(a)1
      16 (6.28 cM)5
    567221  NM_019980.21  NP_064364.11 
     109592755 
    chicken
    (Gallus gallus)
    Aves LITAF1 lipopolysaccharide-induced TNF factor 67.68(n)
    68.18(a)
      374125  NM_204267.1  NP_989598.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.217542 Xenopus laevis transcribed sequence with weak similarity more 73.32(n)    BJ618945.1 
    zebrafish
    (Danio rerio)
    Actinopterygii litaf1 lipopolysaccharide-induced TNF factor 55.56(n)
    47.29(a)
      431731  NM_001002184.1  NP_001002184.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG322806
    CG135596
    --
    33(a)
    21(a)
    many ↔ many
    many ↔ many
    3L(3165181-3169080)
    2R(19390469-19391338)
    worm
    (Caenorhabditis elegans)
    Secernentea F36G3.36
    Protein F36G3.3 (F36G3.3) mRNA, complete cds
    24(a)
    1 → many
    X(9798835-9801038) WBGene00009484


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LITAF gene
    CDIP12  

    LITAF for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LITAF (see all 1143)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1418626021,2,,4
    C,FCharcot-Marie-Tooth disease 1C (CMT1C)4 --11546103(+) GCCCCG/ATCACA 7 /T /M mis12Minor allele frequency- A:0.00NA EU 5873
    VAR_0240144
    One EMPD primary tumor4--see VAR_0240142 Y H mis40--------
    VAR_0240194
    Charcot-Marie-Tooth disease 1C (CMT1C)4--see VAR_0240192 W G mis40--------
    VAR_0240174
    Charcot-Marie-Tooth disease 1C (CMT1C)4--see VAR_0240172 G S mis40--------
    VAR_0240204
    Charcot-Marie-Tooth disease 1C (CMT1C)4--see VAR_0240202 L V mis40--------
    VAR_0240184
    Charcot-Marie-Tooth disease 1C (CMT1C)4--see VAR_0240182 T N mis40--------
    rs2818651351,2
    Cpathogenic111539239(-) TCATCA/C/TCCTTC 10 T P S mis1 ut310--------
    rs1048945221,2
    Cpathogenic111543065(-) GGAGCC/GTGTGC 7 L V mis10--------
    rs1048945211,2
    Cpathogenic111543083(-) TGACCG/TGGCTG 7 G W mis10--------
    rs1048945201,2
    Cpathogenic111543085(-) TCTGAA/CCTGGC 7 N T mis10--------

    HapMap Linkage Disequilibrium report for LITAF (11641578 - 11730237 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for LITAF:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv991827CNV Deletion20482838
    nsv524676CNV Loss19592680
    nsv457409CNV Gain19166990

    Human Gene Mutation Database (HGMD): LITAF
    Locus Specific Mutation Databases (LSDB): LITAF

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LITAF
    DNA2.0 Custom Variant and Variant Library Synthesis for LITAF

    (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: 603795   
    OMIM disorders: 601098  
    UniProtKB/Swiss-Prot: LITAF_HUMAN, Q99732
  • Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]: A dominant demyelinating form of Charcot-Marie-Tooth
    disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy,
    initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is
    classified in two main groups on the basis of electrophysiologic properties and histopathology: primary
    peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral
    axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction
    velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve
    biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=Defects in LITAF may be involved in extramammary Paget disease (EMPD) carcinogenesis. EMPD is a
    cancerous disease representing about 8% of all malignant skin cancers; it usually appears in the anogenital area
    and can be fatal by metastasizing to internal organs when left untreated for a long time. The clinical features
    are usually those of eczematous eruptions with weeping and crust formation

  • Selected diseases for LITAF (see all 31):    About MalaCards
    charcot-marie-tooth neuropathy type 1c    charcot-marie-tooth disease type 1c    peroneal neuropathy    charcot-marie-tooth neuropathy type 1
    charcot-marie-tooth disease type 1    lens subluxation    tooth disease    charcot-marie-tooth disease
    axonal neuropathy    neuropathy    human t-cell leukemia virus type 1    polyneuropathy
    lung cancer susceptibility    acute leukemia    t-cell leukemia    influenza
    coronary heart disease    insulin resistance    obesity    inflammatory bowel disease

    1 disease from the University of Copenhagen DISEASES database for LITAF:
    Neuropathy

    LITAF for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for LITAF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    charcot-marie-tooth disease 85.4 7 15776429 (2), 16118794 (2), 15122712 (1), 16787513 (1)
    sensory neuropathy 53.7 1 19541485 (1)
    necrosis 23.1 3 11584851 (1), 15025820 (1), 11274176 (1)
    tumors 0 4 15025820 (1), 11274176 (1), 16118794 (1)

    GeneTests: LITAF
    GeneReviews: LITAF
    Genetic Association Database (GAD): LITAF
    Human Genome Epidemiology (HuGE) Navigator: LITAF (8 documents)

    Export disorders for LITAF 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 LITAF gene, integrated from 10 sources (see all 88):
    (articles sorted by number of sources associating them with LITAF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment. (PubMed id 10200294)1, 2, 3, 9 Myokai F.... Amar S. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    2. A model for p53-induced apoptosis. (PubMed id 9305847)1, 2, 3 Polyak K.... Vogelstein B. (Nature 1997)
    3. SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. (PubMed id 15776429)1, 2, 9 Saifi G.M.... Lupski J.R. (Hum. Mutat. 2005)
    4. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. (PubMed id 12525712)1, 2, 9 Street V.A.... Chance P.F. (Neurology 2003)
    5. LPS induces the interaction of a transcription factor, LPS-induced TNF-alpha factor, and STAT6(B) with effects on multiple cytokines. (PubMed id 15793005)1, 2, 9 Tang X.... Amar S. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    6. Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. (PubMed id 16912585)1, 4, 9 Song S....Zhong N. (Genet. Med. 2006)
    7. Mycobacterium bovis Bacillus Calmette-Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF(PIG7), and estrogen-inducible gene, EET-1. (PubMed id 11274176)1, 2, 9 Moriwaki Y....Seya T. (J. Biol. Chem. 2001)
    8. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PubMed id 21347282)1, 4 Lettre G....Boerwinkle E. (PLoS Genet. 2011)
    9. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    10. Common variants at ten loci modulate the QT interval duration in the QTSCD Study. (PubMed id 19305409)1, 4 Pfeufer A.... Chakravarti A. (Nat. Genet. 2009)

    (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: 9516 HGNC: 16841 AceView: LITAF Ensembl:ENSG00000189067 euGenes: HUgn9516
    ECgene: LITAF H-InvDB: LITAF

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for LITAF Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LITAF Genetics and Cytogenetics in Oncology and Haematology
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LITAF[genesymbol]

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

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



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