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    LITAF lipopolysaccharide-induced TNF factor [ Homo sapiens (human) ]

    Gene ID: 9516, updated on 7-Feb-2016
    Official Symbol
    LITAFprovided by HGNC
    Official Full Name
    lipopolysaccharide-induced TNF factorprovided by HGNC
    Primary source
    HGNC:HGNC:16841
    See related
    Ensembl:ENSG00000189067; HPRD:10354; MIM:603795; Vega:OTTHUMG00000177415
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PIG7; SIMPLE; TP53I7
    Summary
    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 suppressor 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, Dec 2014]
    Orthologs
    See LITAF in Epigenomics, MapViewer
    Location:
    16p13.13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (11547722..11636377, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (11641578..11681322, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371082 Neighboring gene mitochondrial ribosomal protein L18 pseudogene Neighboring gene uncharacterized LOC400499 Neighboring gene uncharacterized LOC101927131 Neighboring gene thioredoxin domain containing 11 Neighboring gene stannin Neighboring gene zinc finger CCCH-type containing 7A

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease, type 1C Compare labs

    NHGRI GWAS Catalog

    Description
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    NHGRI GWA Catalog
    Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
    NHGRI GWA Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    NHGRI GWA Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    NHGRI GWA Catalog
    Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of lipopolysaccharide-induced TNF factor (LITAF) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ38636, MGC116698, MGC116700, MGC116701, MGC125274, MGC125275, MGC125276

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    WW domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal transducer activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of NF-kappaB import into nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi apparatus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    lipopolysaccharide-induced tumor necrosis factor-alpha factor
    Names
    LPS-induced TNF-alpha factor
    lipopolysaccharide-induced TNF-alpha factor
    p53-induced gene 7 protein
    small integral membrane protein of lysosome/late endosome
    tumor protein p53 inducible protein 7

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009008.1 RefSeqGene

      Range
      4485..44229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_253

    mRNA and Protein(s)

    1. NM_001136472.1NP_001129944.1  lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 1

      See identical proteins and their annotated locations for NP_001129944.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon, as compared to variant 1. Variants 1 and 2 encode the same isoform 1.
      Source sequence(s)
      AA625937, AB034747, AK314519
      Consensus CDS
      CCDS32386.1
      UniProtKB/Swiss-Prot
      Q99732
      Related
      ENSP00000483114, ENST00000622633
      Conserved Domains (1) summary
      pfam10601
      Location:87160
      zf-LITAF-like; LITAF-like zinc ribbon domain
    2. NM_001136473.1NP_001129945.1  lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 2

      See identical proteins and their annotated locations for NP_001129945.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR exon and an additional exon in the 3' region, as compared to variant 1. The resulting isoform (2) has a different and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AA625937, AB034747, AK095955
      Consensus CDS
      CCDS45411.1
      UniProtKB/Swiss-Prot
      Q99732
      Related
      ENSP00000397958, OTTHUMP00000256597, ENST00000413364, OTTHUMT00000436818
      Conserved Domains (1) summary
      cl02754
      Location:87129
      zf-LITAF-like; LITAF-like zinc ribbon domain
    3. NM_004862.3NP_004853.2  lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 1

      See identical proteins and their annotated locations for NP_004853.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA625937, AB034747, BC101402, DA955452
      Consensus CDS
      CCDS32386.1
      UniProtKB/Swiss-Prot
      Q99732
      Related
      ENSP00000340118, OTTHUMP00000256598, ENST00000339430, OTTHUMT00000436819
      Conserved Domains (1) summary
      pfam10601
      Location:87160
      zf-LITAF-like; LITAF-like zinc ribbon domain

    RNA

    1. NR_024320.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' exon, as compared to variant 1. The alternate 5' exon includes an upstream AUG codon, which results in an upstream ORF, and the transcript is a nonsense-mediated mRNA decay (NMD) candidate. Therefore, this variant is unlikely to make a functional protein.
      Source sequence(s)
      AA625937, AB034747, BI858484, BX537543

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

      Range
      11547722..11636377 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522754.1XP_011521056.1  

      Conserved Domains (1) summary
      pfam10601
      Location:117190
      zf-LITAF-like; LITAF-like zinc ribbon domain
    2. XM_006720982.2XP_006721045.1  

      See identical proteins and their annotated locations for XP_006721045.1

      UniProtKB/Swiss-Prot
      Q99732
      Conserved Domains (1) summary
      pfam10601
      Location:87160
      zf-LITAF-like; LITAF-like zinc ribbon domain
    3. XM_006720985.2XP_006721048.1  

      See identical proteins and their annotated locations for XP_006721048.1

      UniProtKB/Swiss-Prot
      Q99732
      Conserved Domains (1) summary
      pfam10601
      Location:87160
      zf-LITAF-like; LITAF-like zinc ribbon domain
    4. XM_006720984.2XP_006721047.1  

      See identical proteins and their annotated locations for XP_006721047.1

      UniProtKB/Swiss-Prot
      Q99732
      Conserved Domains (1) summary
      pfam10601
      Location:87160
      zf-LITAF-like; LITAF-like zinc ribbon domain
    5. XM_006720983.2XP_006721046.1  

      See identical proteins and their annotated locations for XP_006721046.1

      UniProtKB/Swiss-Prot
      Q99732
      Conserved Domains (1) summary
      pfam10601
      Location:87160
      zf-LITAF-like; LITAF-like zinc ribbon domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      11641642..11681379 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)