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Aliases for LITAF Gene

Aliases for LITAF Gene

  • Lipopolysaccharide-Induced TNF Factor 2 3
  • Small Integral Membrane Protein Of Lysosome/Late Endosome 3 4
  • LPS-Induced TNF-Alpha Factor 3 4
  • P53-Induced Gene 7 Protein 3 4
  • SIMPLE 3 4
  • PIG7 3 4
  • Lipopolysaccharide-Induced Tumor Necrosis Factor-Alpha Factor 3
  • Lipopolysaccharide-Induced TNF-Alpha Factor 3
  • Tumor Protein P53 Inducible Protein 7 3
  • TP53I7 3
  • CMT1C 6

External Ids for LITAF Gene

Summaries for LITAF Gene

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 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]

GeneCards Summary for LITAF Gene

LITAF (Lipopolysaccharide-Induced TNF Factor) is a Protein Coding gene. Diseases associated with LITAF include charcot-marie-tooth disease, type 1c and charcot-marie-tooth neuropathy type 1. Among its related pathways are NF-kappaB Signaling. GO annotations related to this gene include signal transducer activity and WW domain binding. An important paralog of this gene is CDIP1.

UniProtKB/Swiss-Prot for LITAF Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LITAF Gene

Genomics for LITAF Gene

Genomic Location for LITAF Gene

Start:
11,547,722 bp from pter
End:
11,636,381 bp from pter
Size:
88,660 bases
Orientation:
Minus strand

Genomic View for LITAF Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LITAF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LITAF Gene

Regulatory Elements for LITAF Gene

Proteins for LITAF Gene

  • Protein details for LITAF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99732-LITAF_HUMAN
    Recommended name:
    Lipopolysaccharide-induced tumor necrosis factor-alpha factor
    Protein Accession:
    Q99732
    Secondary Accessions:
    • D3DUG1
    • G5E9K0
    • Q05DW0
    • Q9C0L6

    Protein attributes for LITAF Gene

    Size:
    161 amino acids
    Molecular mass:
    17107 Da
    Quaternary structure:
    • Interacts with NEDD4 (By similarity). Interacts with WWOX. Isoform 2 may interact with STAT6.

    Alternative splice isoforms for LITAF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LITAF Gene

Proteomics data for LITAF Gene at MOPED

Post-translational modifications for LITAF Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys159

No data available for DME Specific Peptides for LITAF Gene

Domains for LITAF Gene

Protein Domains for LITAF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LITAF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99732

UniProtKB/Swiss-Prot:

LITAF_HUMAN
Domain:
  • The WW-binding motif mediates interaction with WWOX and, probably NEDD4.:
    • Q99732
Family:
  • Belongs to the CDIP1/LITAF family.:
    • Q99732
genes like me logo Genes that share domains with LITAF: view

No data available for Gene Families for LITAF Gene

Function for LITAF Gene

Molecular function for LITAF Gene

UniProtKB/Swiss-Prot 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
UniProtKB/Swiss-Prot Induction: By bacterial lipopolysaccharides (LPS) or p53/TP53. In monocytes by the Bacillus Calmette-Guerin (BCG).

Gene Ontology (GO) - Molecular Function for LITAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IMP 12761501
GO:0005515 protein binding IPI 15064722
GO:0050699 WW domain binding IPI 15064722
genes like me logo Genes that share ontologies with LITAF: view
genes like me logo Genes that share phenotypes with LITAF: view

Animal Models for LITAF Gene

MGI Knock Outs for LITAF:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for LITAF Gene

Localization for LITAF Gene

Subcellular locations from UniProtKB/Swiss-Prot for LITAF Gene

Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Associated with membranes of lysosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LITAF Gene COMPARTMENTS Subcellular localization image for LITAF gene
Compartment Confidence
golgi apparatus 5
lysosome 5
vacuole 5
plasma membrane 4
endosome 2
extracellular 2
nucleus 1

Gene Ontology (GO) - Cellular Components for LITAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005765 lysosomal membrane IDA 11274176
GO:0005794 Golgi apparatus IMP 16118794
genes like me logo Genes that share ontologies with LITAF: view

Pathways for LITAF Gene

SuperPathways for LITAF Gene

Superpath Contained pathways
1 NF-kappaB Signaling
genes like me logo Genes that share pathways with LITAF: view

Pathways by source for LITAF Gene

1 Cell Signaling Technology pathway for LITAF Gene

Gene Ontology (GO) - Biological Process for LITAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001817 regulation of cytokine production IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 10200294
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction IMP 12761501
genes like me logo Genes that share ontologies with LITAF: view

Compounds for LITAF Gene

(1) Novoseek inferred chemical compound relationships for LITAF Gene

Compound -log(P) Hits PubMed IDs
lipid 4.44 2
genes like me logo Genes that share compounds with LITAF: view

Transcripts for LITAF Gene

Unigene Clusters for LITAF Gene

Lipopolysaccharide-induced TNF factor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LITAF Gene

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: - - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7: - - - - - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - -
SP11: - -
SP12: - - - -
SP13: - - - - - - -
SP14: - - - -
SP15: - - - - - -

ExUns: 13h · 13i
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for LITAF Gene

GeneLoc Exon Structure for
LITAF
ECgene alternative splicing isoforms for
LITAF

Expression for LITAF Gene

mRNA expression in normal human tissues for LITAF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LITAF Gene

This gene is overexpressed in Whole Blood (16.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for LITAF Gene

SOURCE GeneReport for Unigene cluster for LITAF Gene Hs.459940

mRNA Expression by UniProt/SwissProt for LITAF Gene

Q99732-LITAF_HUMAN
Tissue specificity: Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen.
genes like me logo Genes that share expressions with LITAF: view

Orthologs for LITAF Gene

This gene was present in the common ancestor of animals.

Orthologs for LITAF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LITAF 35
  • 99.17 (n)
  • 99.38 (a)
LITAF 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LITAF 35
  • 86.13 (n)
  • 86.96 (a)
LITAF 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LITAF 35
  • 86.13 (n)
  • 88.82 (a)
LITAF 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Litaf 35
  • 80.95 (n)
  • 85.71 (a)
Litaf 16
Litaf 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 70 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia LITAF 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Litaf 35
  • 81.37 (n)
  • 86.96 (a)
chicken
(Gallus gallus)
Aves LITAF 35
  • 67.68 (n)
  • 68.18 (a)
LITAF 36
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21754 35
tropical clawed frog
(Silurana tropicalis)
Amphibia litaf 35
  • 63.72 (n)
  • 65.49 (a)
MGC75991 35
zebrafish
(Danio rerio)
Actinopterygii litaf 35
  • 55.56 (n)
  • 47.29 (a)
litaf 36
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13559 36
  • 21 (a)
ManyToMany
CG32280 36
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F36G3.3 36
  • 24 (a)
OneToMany
Species with no ortholog for LITAF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LITAF Gene

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

Paralogs for LITAF Gene

Paralogs for LITAF Gene

genes like me logo Genes that share paralogs with LITAF: view

Variants for LITAF Gene

Sequence variations from dbSNP and Humsavar for LITAF Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1198 -- 11,548,841(+) TGTTC(A/G)AAAGT utr-variant-3-prime, nc-transcript-variant
rs7102 -- 11,548,386(+) GACTT(C/T)AGATT utr-variant-3-prime, nc-transcript-variant
rs13810 -- 11,548,954(+) AAGGG(A/G)AGACA utr-variant-3-prime, nc-transcript-variant
rs15035 -- 11,548,820(-) ttttt(A/T)aaaaa utr-variant-3-prime, nc-transcript-variant
rs1345441 -- 11,585,967(-) GGTGT(A/G)TGTTC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LITAF Gene

Variant ID Type Subtype PubMed ID
nsv457409 CNV Gain 19166990
nsv524676 CNV Loss 19592680
esv991827 CNV Deletion 20482838

Relevant External Links for LITAF Gene

HapMap Linkage Disequilibrium report
LITAF
Human Gene Mutation Database (HGMD)
LITAF
Locus Specific Mutation Databases (LSDB)
LITAF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LITAF Gene

Disorders for LITAF Gene

(1) OMIM Diseases for LITAF Gene (603795)

UniProtKB/Swiss-Prot

LITAF_HUMAN
  • 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. {ECO:0000269 PubMed:12525712, ECO:0000269 PubMed:15776429, ECO:0000269 PubMed:15786462}. 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.

(1) University of Copenhagen DISEASES for LITAF Gene

(4) Novoseek inferred disease relationships for LITAF Gene

Disease -log(P) Hits PubMed IDs
charcot-marie-tooth disease 85.4 6
sensory neuropathy 53.7 1
necrosis 23.1 3
tumors 0 3

Relevant External Links for LITAF

GeneTests
LITAF
GeneReviews
LITAF
Genetic Association Database (GAD)
LITAF
Human Genome Epidemiology (HuGE) Navigator
LITAF
genes like me logo Genes that share disorders with LITAF: view

Publications for LITAF Gene

  1. A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment. (PMID: 10200294) Myokai F. … Amar S. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23
  2. 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. (PMID: 11274176) Moriwaki Y. … Seya T. (J. Biol. Chem. 2001) 3 4 23
  3. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. (PMID: 12525712) Street V.A. … Chance P.F. (Neurology 2003) 3 4 23
  4. SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. (PMID: 15776429) Saifi G.M. … Lupski J.R. (Hum. Mutat. 2005) 3 4 23
  5. LPS induces the interaction of a transcription factor, LPS-induced TNF-alpha factor, and STAT6(B) with effects on multiple cytokines. (PMID: 15793005) Tang X. … Amar S. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 23

Products for LITAF Gene

Sources for LITAF Gene

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