LITAF

LITAF
Identifiers
Aliases	LITAF,PIG7, SIMPLE, TP53I7, lipopolysaccharide induced TNF factor
External IDs	OMIM:603795;MGI:1929512;HomoloGene:37974;GeneCards:LITAF;OMA:LITAF - orthologs
Gene location (Human) Chr. Chromosome 16 (human) Band 16p13.13 Start 11,547,722bp End 11,636,381bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16|16 A1 Start 10,777,139bp End 10,884,021bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in blood palpebral conjunctiva periodontal fiber visceral pleura mucosa of urinary bladder appendix tibia granulocyte canal of the cervix gallbladder Top expressed in granulocyte endothelial cell of lymphatic vessel stroma of bone marrow blood decidua vestibular sensory epithelium left colon gastrula vestibular membrane of cochlear duct skin of external ear More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signal transducer activity protein binding WW domain binding zinc ion binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA binding metal ion binding Cellular component membrane nucleoplasm lysosomal membrane lysosome cytosol cytoplasmic side of plasma membrane cytoplasmic side of early endosome membrane cytoplasmic side of late endosome membrane cytoplasmic side of lysosomal membrane Golgi membrane nucleus cytoplasm endosome Golgi apparatus plasma membrane endosome membrane early endosome membrane late endosome membrane intracellular membrane-bounded organelle integral component of membrane Biological process regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II human ageing transcription, DNA-templated regulation of cytokine production response to lipopolysaccharide positive regulation of I-kappaB kinase/NF-kappaB signaling cellular response to lipopolysaccharide signal transduction transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 9516 56722 Ensembl ENSG00000189067 ENSMUSG00000022500 UniProt Q99732 Q9JLJ0 RefSeq (mRNA) NM_001136472 NM_001136473 NM_004862 NM_019980 RefSeq (protein) NP_001129944 NP_001129945 NP_004853 NP_064364 Location (UCSC) Chr 16: 11.55 – 11.64 Mb Chr 16: 10.78 – 10.88 Mb PubMedsearch
Wikidata
View/Edit Human View/Edit Mouse

Lipopolysaccharide-induced tumor necrosis factor- Alpha factoris aproteinthat in humans is encoded by theLITAFgene.

It is associated withCharcot–Marie–Tooth disease1C.

External links

• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 1

Further reading

• Jolliffe CN, Harvey KF, Haines BP, et al. (2001)."Identification of multiple proteins expressed in murine embryos as binding partners for the WW domains of the ubiquitin-protein ligase Nedd4".Biochem. J.351(3): 557–65.doi:10.1042/0264-6021:3510557.PMC1221394.PMID11042109.
• Moriwaki Y, Begum NA, Kobayashi M, et al. (2001)."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".J. Biol. Chem.276(25): 23065–76.doi:10.1074/jbc.M011660200.PMID11274176.
• Street VA, Goldy JD, Golden AS, et al. (2002)."Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies".Am. J. Hum. Genet.70(1): 244–50.doi:10.1086/337943.PMC384893.PMID11713717.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003)."Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences".Proc. Natl. Acad. Sci. U.S.A.99(26): 16899–903.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC139241.PMID12477932.
• Street VA, Bennett CL, Goldy JD, et al. (2003). "Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C".Neurology.60(1): 22–6.doi:10.1212/wnl.60.1.22.PMID12525712.S2CID7495837.
• Matsuda A, Suzuki Y, Honda G, et al. (2003). "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways".Oncogene.22(21): 3307–18.doi:10.1038/sj.onc.1206406.PMID12761501.S2CID38880905.
• Street VA, Bennett CL, Bird TD, Chance PF (2004). "New gene for CMT".J. Peripher. Nerv. Syst.8(4): 206.doi:10.1111/j.1085-9489.2003.03025.x.PMID14641644.S2CID12117063.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004)."Complete sequencing and characterization of 21,243 full-length human cDNAs".Nat. Genet.36(1): 40–5.doi:10.1038/ng1285.PMID14702039.
• Ludes-Meyers JH, Kil H, Bednarek AK, et al. (2004)."WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins".Oncogene.23(29): 5049–55.doi:10.1038/sj.onc.1207680.PMC4143251.PMID15064722.
• Bennett CL, Shirk AJ, Huynh HM, et al. (2004). "SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve".Ann. Neurol.55(5): 713–20.doi:10.1002/ana.20094.PMID15122712.S2CID7719672.
• Matsumura Y, Matsumura Y, Nishigori C, et al. (2004). "PIG7/LITAF gene mutation and overexpression of its gene product in extramammary Paget's disease".Int. J. Cancer.111(2): 218–23.doi:10.1002/ijc.20251.PMID15197774.S2CID27155753.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004)."The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)".Genome Res.14(10B): 2121–7.doi:10.1101/gr.2596504.PMC528928.PMID15489334.
• Saifi GM, Szigeti K, Wiszniewski W, et al. (2006). "SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation".Hum. Mutat.25(4): 372–83.doi:10.1002/humu.20153.PMID15776429.S2CID20127440.
• Meggouh F, de Visser M, Arts WF, et al. (2005). "Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease".Ann. Neurol.57(4): 589–91.doi:10.1002/ana.20434.PMID15786462.S2CID32014135.
• Tang X, Marciano DL, Leeman SE, Amar S (2005)."LPS induces the interaction of a transcription factor, LPS-induced TNF- Alpha factor, and STAT6(B) with effects on multiple cytokines".Proc. Natl. Acad. Sci. U.S.A.102(14): 5132–7.Bibcode:2005PNAS..102.5132T.doi:10.1073/pnas.0501159102.PMC555602.PMID15793005.
• Beauvais K, Furby A, Latour P (2006). "Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE".Neuromuscul. Disord.16(1): 14–8.doi:10.1016/j.nmd.2005.09.008.PMID16373087.S2CID32730191.
• Latour P, Gonnaud PM, Ollagnon E, et al. (2006)."SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations".J. Peripher. Nerv. Syst.11(2): 148–55.doi:10.1111/j.1085-9489.2006.00080.x.PMID16787513.S2CID24702162.
• Stucchi A, Reed K, O'Brien M, et al. (2007)."A new transcription factor that regulates TNF- Alpha gene expression, LITAF, is increased in intestinal tissues from patients with CD and UC".Inflamm. Bowel Dis.12(7): 581–7.doi:10.1097/01.MIB.0000225338.14356.d5.PMID16804395.S2CID28836872.