LITAF

Lipopolysaccharide-induced tumor necrosis factor-alpha factor is a protein that in humans is encoded by the LITAF gene.[5][6][7]

LITAF
Identifiers
Aliases	LITAF, PIG7, SIMPLE, TP53I7, lipopolysaccharide induced TNF factor
External IDs	OMIM: 603795 MGI: 1929512 HomoloGene: 37974 GeneCards: LITAF
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.13 Start 11,547,722 bp[1] End 11,636,381 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 A1 Start 10,959,275 bp[2] End 11,066,157 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • signal transducer activity • GO:0001948 protein binding • WW domain binding • zinc ion binding • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 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 • cell nucleus • cytoplasm • endosome • Golgi apparatus • cell 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 from RNA polymerase II promoter • aging • 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 from RNA polymerase II promoter • positive regulation of transcription from RNA polymerase II promoter 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: 10.96 – 11.07 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

It is associated with Charcot–Marie–Tooth disease 1C.

References

1. GRCh38: Ensembl release 89: ENSG00000189067 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022500 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Polyak K, Xia Y, Zweier JL, Kinzler KW, Vogelstein B (Sep 1997). "A model for p53-induced apoptosis". Nature. 389 (6648): 300–5. doi:10.1038/38525. PMID 9305847.
6. Myokai F, Takashiba S, Lebo R, Amar S (May 1999). "A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment". Proc Natl Acad Sci U S A. 96 (8): 4518–23. doi:10.1073/pnas.96.8.4518. PMC 16364. PMID 10200294.
7. "Entrez Gene: LITAF lipopolysaccharide-induced TNF factor".

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. PMC 1221394. PMID 11042109.
• 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. PMID 11274176.
• 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. PMC 384893. PMID 11713717.
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• 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. PMID 12525712.
• 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. PMID 12761501.
• 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. PMID 14641644.
• 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. PMID 14702039.
• 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. PMC 4143251. PMID 15064722.
• 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. PMID 15122712.
• 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. PMID 15197774.
• 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. PMC 528928. PMID 15489334.
• 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. PMID 15776429.
• 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. PMID 15786462.
• 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. doi:10.1073/pnas.0501159102. PMC 555602. PMID 15793005.
• 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. PMID 16373087.
• 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. PMID 16787513.
• 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. PMID 16804395.