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

LITAF Gene

protein-coding   GIFtS: 61
GCID: GC16M011641

lipopolysaccharide-induced TNF factor
 Explore 20 diseases affiliated with
LITAF via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for LITAF    

Aliases
for LITAF gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Lipopolysaccharide-Induced TNF Factor1 2     P53-Induced Gene 7 Protein2 3
PIG71 2 3     FLJ386361
SIMPLE1 2 3     Lipopolysaccharide-Induced TNF-Alpha Factor2
TP53I71 2     Lipopolysaccharide-Induced Tumor Necrosis Factor-Alpha Factor2
Small Integral Membrane Protein Of Lysosome/Late Endosome2 3     Tumor Protein P53 Inducible Protein 72
LPS-Induced TNF-Alpha Factor2 3     CMT1C5

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


Summaries
for LITAF gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for LITAF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for LITAF gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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
Subcellular location: Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Associated with membranes
of lysosomes
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99732

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

    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  

    Human Recombinant Protein Products: 
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    Novus Biologicals LITAF Protein
    Novus Biologicals LITAF Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for LITAF

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA11274176
    GO:0005794Golgi apparatus IMP16118794
    GO:0005886plasma membrane IMP16118794


    LITAF for ontologies           About GeneDecksing



    LITAF Antibody Products: 
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    ThermoFisher Antibodies for LITAF

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    Uscn ELISAs and CLIAs for LITAF

    Protein Domains /
    Families
    for LITAF gene

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

    1 InterPro domain/family:
     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


    Function
    for LITAF gene

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

         UniProtKB/Swiss-Prot: 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)

    miRNA
    Products:            		miRTarBase miRNAs that target LITAF:
    hsa-mir-124 (MIRT002728)

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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LITAF
    8/32 QIAGEN miScript miRNA 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 plasmid: LITAF 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LITAF (see all 7)
    OriGene shRNA RFP: LITAF
    OriGene siRNA: LITAF
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LITAF

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LITAF 

    Cell Line
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    Search LifeMap BioReagents cell lines for LITAF

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LITAF

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IMP12761501
    GO:0005515protein binding IPI16118794
    GO:0050699WW domain binding IPI15064722


    LITAF for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for LITAF gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NF-kappaB Signaling
    		NF-kappaB Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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



    LITAF for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LITAF

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

    5/11 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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

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


    LITAF for ontologies           About GeneDecksing



    Drugs & Compounds
    for LITAF gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LITAF for compounds           About GeneDecksing

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

    Browse Tocris compounds for LITAF
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about LITAF 

    Transcripts
    for LITAF gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/19 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
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LITAF
    8/32 QIAGEN miScript miRNA 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 plasmid: LITAF 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LITAF (see all 7)
    OriGene shRNA RFP: LITAF
    OriGene siRNA: LITAF
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LITAF
    Clone
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    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
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LITAF
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LITAF

    Additional cDNA 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 

    24/30 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.120713187  DT.120713053  DT.100853158  DT.120713104  DT.95172074  DT.100038190 
    DT.100668995  DT.100853146  DT.100853160  DT.102832854  DT.120713067  DT.100645120  DT.100853156  DT.102832853 

    24/694 AceView cDNA sequences (see all 694):

    AI963613 BQ029779 AI281359 AA625937 AA989340 AA173910 BU784168 AI479977 
    AW510394 BU682906 BM471125 AI334238 AI434893 CR612710 AI269841 AI472853 
    AI479473 BQ433210 CR623629 AI146776 BU195046 AW468224 AK095955 CR612810 

    GeneLoc Exon Structure

    5/15 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

    Expression
    for LITAF gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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

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

    LITAF expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    N2/LSB/S/F8/CHIR-induced cells (Generation of midbra...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    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

        SABiosciences Custom PCR Arrays for LITAF
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    In Situ
    Assay Products:     
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    Orthologs
    for LITAF gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for LITAF gene from 6/21 species (see all 21)    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 69.08(n)
    71.74(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 55.06(n)
    47.41(a)    		   431731  NM_001002184.1  NP_001002184.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG322806
    		 --
    		 34(a)
    		 possible ortholog
    		 3L(3165181-3169080)
    worm
    (Caenorhabditis elegans)    		 Secernentea Y87G2A.186
    F36G3.36
    		 --
    		 29(a)
    25(a)
    		 possible ortholog
    possible ortholog
    		 I(13511914-13514309)
    X(9798777-9800980)


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

    Paralogs
    for LITAF gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LITAF gene
    CDIP12  
    1 SIMAP similar gene for LITAF using alignment to 12 protein entries:     LITAF_HUMAN (see all proteins):
    CDIP1

    LITAF for paralogs           About GeneDecksing



    Genomic Variants
    for LITAF gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/943 NCBI SNPs in LITAF are shown (see all 943)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048945221,2
    		Cpathogenic11647402(-) GGAGCC/GTGTGC 7 L V mis10--------
    rs1048945211,2
    		Cpathogenic11647420(-) TGACCG/TGGCTG 7 G W nc-transcript-variantmis10--------
    rs1048945201,2
    		Cpathogenic11647422(-) TCTGAA/CCTGGC 7 N T mis10--------
    rs72031931,2
    		C,F,A,H,--11641180(+) TGAACA/GCTTCA 4 -- ds500130Minor allele frequency- N:0.00EA NA NS WA CSA 2839
    rs1449690801,2
    		--11641214(+) GTTCCG/TCATAA 4 -- ds50010--------
    rs1387991341,2
    		--11641215(+) TTCCGA/CATAAG 4 -- ds50010--------
    rs1406079181,2
    		--11641268(+) CTTTGC/TATATG 4 -- ds50010--------
    rs745068521,2
    		F,--11641509(+) TTCCTG/AACATG 4 -- ds50012Minor allele frequency- A:0.10WA EA 238
    rs72032881,2
    		C,F,--11641540(+) CATCTC/AACAAA 4 -- ds50012Minor allele frequency- A:0.09WA NA 238
    rs1504724751,2
    		--11641623(+) TTGCCA/GCCATC 4 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for LITAF (11641578 - 11730237 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for LITAF: --
    Human Gene Mutation Database (HGMD): LITAF

    Locus Specific Mutation Databases (LSDB): LITAF

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LITAF
    DNA2.0 Custom Variant and Variant Library Synthesis for LITAF

    Disorders / Diseases
    for LITAF gene

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

    OMIM gene information: 603795   
    OMIM disorders: 601098  
    UniProtKB/Swiss-Prot: LITAF_HUMAN, Q99732
  • Defects in LITAF are the cause of Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]. CMT1C is a form of
    • Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth
    disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary
    peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the
    CMT1 group 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=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

    20 diseases for LITAF:    About MalaCards
    charcot-marie-tooth disease type 1c    charcot-marie-tooth disease    charcot-marie-tooth disease type 1    charcot-marie-tooth neuropathy
    tooth disease    charcot-marie-tooth neuropathy type 1    lens subluxation    human t-cell leukemia virus type 1
    peroneal neuropathy    pneumopericardium    axonal neuropathy    neuropathy
    schizophrenia simplex    t-cell leukemia    skin cancer    acute leukemia
    pulmonary disease    leukemia    influenza    obesity

    2 diseases from the University of Copenhagen DISEASES database for LITAF:
    Charcot-Marie-Tooth disease     Peroneal neuropathy

    4 Novoseek 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
    Charcot-Marie-Tooth Neuropathy Type 1

    Human Genome Epidemiology (HuGE) Navigator: LITAF (8 documents)

    Export disorders for LITAF gene to outside databases

    Publications
    for LITAF gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LITAF gene, integrated from 9 sources (see all 79):
    (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. (1999)
    2. A model for p53-induced apoptosis. (PubMed id 9305847)1, 2, 3 Polyak K....Vogelstein B. (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. (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. (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. (2005)
    6. 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. (2001)
    7. Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. (PubMed id 15786462)1, 2 Meggouh F.... Baas F. (2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins. (PubMed id 15064722)1, 2 Ludes-Meyers J.H....Aldaz C.M. (2004)
    10. PIG7/LITAF gene mutation and overexpression of its gene product in extramammary Paget's disease. (PubMed id 15197774)1, 2 Matsumura Y.... Miyachi Y. (2004)

    External Searches for LITAF gene

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

    Genome Databases showing LITAF gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9516 HGNC: 16841 AceView: LITAF Ensembl:ENSG00000189067 euGenes: HUgn9516
    ECgene: LITAF H-InvDB: LITAF

    Other Databases showing LITAF gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing LITAF gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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/sites/GeneTests/lab/gene/LITAF

    Intellectual Property
    for LITAF gene

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



    Products
    for LITAF gene

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    About This Section

     
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