2024-03-28 21:34:45, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001136473 2577 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens lipopolysaccharide-induced TNF factor (LITAF), transcript variant 3, mRNA. ACCESSION NM_001136473 VERSION NM_001136473.1 GI:210147506 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2577) AUTHORS Smith JG, Avery CL, Evans DS, Nalls MA, Meng YA, Smith EN, Palmer C, Tanaka T, Mehra R, Butler AM, Young T, Buxbaum SG, Kerr KF, Berenson GS, Schnabel RB, Li G, Ellinor PT, Magnani JW, Chen W, Bis JC, Curb JD, Hsueh WC, Rotter JI, Liu Y, Newman AB, Limacher MC, North KE, Reiner AP, Quibrera PM, Schork NJ, Singleton AB, Psaty BM, Soliman EZ, Solomon AJ, Srinivasan SR, Alonso A, Wallace R, Redline S, Zhang ZM, Post WS, Zonderman AB, Taylor HA, Murray SS, Ferrucci L, Arking DE, Evans MK, Fox ER, Sotoodehnia N, Heckbert SR, Whitsel EA and Newton-Cheh C. CONSRTM CARe and COGENT consortia TITLE Impact of ancestry and common genetic variants on QT interval in African Americans JOURNAL Circ Cardiovasc Genet 5 (6), 647-655 (2012) PUBMED 23166209 REFERENCE 2 (bases 1 to 2577) AUTHORS Lee,S.M., Chin,L.S. and Li,L. TITLE Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking JOURNAL J. Cell Biol. 199 (5), 799-816 (2012) PUBMED 23166352 REMARK GeneRIF: The findings indicate a function of SIMPLE as a regulator of endosomal trafficking and provide evidence linking dysregulated endosomal trafficking to CMT pathogenesis. REFERENCE 3 (bases 1 to 2577) AUTHORS Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Buning C, Cohain A, Cichon S, D'Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg MS, Annese V, Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC and Cho JH. CONSRTM International IBD Genetics Consortium (IIBDGC) TITLE Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease JOURNAL Nature 491 (7422), 119-124 (2012) PUBMED 23128233 REFERENCE 4 (bases 1 to 2577) AUTHORS Liu,J., Xing,H., Chen,Y., Wang,L., Wang,D., Rao,Q., Tang,K., Tian,Z., He,K., Wang,M. and Wang,J. TITLE PIG7, transactivated by AML1, promotes apoptosis and differentiation of leukemia cells with AML1-ETO fusion gene JOURNAL Leukemia 26 (1), 117-126 (2012) PUBMED 21836606 REMARK GeneRIF: PIG7 could be transactivated by AML1, which subsequently induces differentiation and apoptosis of leukemia cells, especially those with AML1-ETO fusion gene REFERENCE 5 (bases 1 to 2577) AUTHORS Lee,S.M., Olzmann,J.A., Chin,L.S. and Li,L. TITLE Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways JOURNAL J. Cell. Sci. 124 (PT 19), 3319-3331 (2011) PUBMED 21896645 REMARK GeneRIF: Our findings suggest that SIMPLE mutations cause Charcot-Marie-Tooth type 1 C peripheral neuropathy by a combination of loss-of-function and toxic gain-of-function mechanisms REFERENCE 6 (bases 1 to 2577) AUTHORS Street,V.A., Bennett,C.L., Goldy,J.D., Shirk,A.J., Kleopa,K.A., Tempel,B.L., Lipe,H.P., Scherer,S.S., Bird,T.D. and Chance,P.F. TITLE Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C JOURNAL Neurology 60 (1), 22-26 (2003) PUBMED 12525712 REFERENCE 7 (bases 1 to 2577) AUTHORS Street,V.A., Goldy,J.D., Golden,A.S., Tempel,B.L., Bird,T.D. and Chance,P.F. TITLE Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies JOURNAL Am. J. Hum. Genet. 70 (1), 244-250 (2002) PUBMED 11713717 REFERENCE 8 (bases 1 to 2577) AUTHORS Moriwaki,Y., Begum,N.A., Kobayashi,M., Matsumoto,M., Toyoshima,K. and Seya,T. TITLE 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 JOURNAL J. Biol. Chem. 276 (25), 23065-23076 (2001) PUBMED 11274176 REFERENCE 9 (bases 1 to 2577) AUTHORS Myokai,F., Takashiba,S., Lebo,R. and Amar,S. TITLE A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (8), 4518-4523 (1999) PUBMED 10200294 REFERENCE 10 (bases 1 to 2577) AUTHORS Polyak,K., Xia,Y., Zweier,J.L., Kinzler,K.W. and Vogelstein,B. TITLE A model for p53-induced apoptosis JOURNAL Nature 389 (6648), 300-305 (1997) PUBMED 9305847 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK095955.1, AB034747.1 and AA625937.1. This sequence is a reference standard in the RefSeqGene project. 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 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]. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK095955.1, BP294739.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1236 AK095955.1 1-1236 1237-2291 AB034747.1 1302-2356 2292-2577 AA625937.1 1-286 c FEATURES Location/Qualifiers source 1..2577 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16p13.13" gene 1..2577 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /note="lipopolysaccharide-induced TNF factor" /db_xref="GeneID:9516" /db_xref="HGNC:16841" /db_xref="MIM:603795" exon 1..65 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /inference="alignment:Splign:1.39.8" exon 66..290 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /inference="alignment:Splign:1.39.8" CDS 71..529 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /note="isoform 2 is encoded by transcript variant 3; small integral membrane protein of lysosome/late endosome; tumor protein p53 inducible protein 7; LPS-induced TNF-alpha factor; lipopolysaccharide-induced tumor necrosis factor-alpha factor; p53-induced gene 7 protein; lipopolysaccharide-induced TNF-alpha factor" /codon_start=1 /product="lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 2" /protein_id="NP_001129945.1" /db_xref="GI:210147507" /db_xref="CCDS:CCDS45411.1" /db_xref="GeneID:9516" /db_xref="HGNC:16841" /db_xref="MIM:603795" /translation="
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGQECSGTIVALRSFDLLGSCNPPSSAS
" misc_feature 128..139 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99732.2); Region: WW-binding" misc_feature 329..>448 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /note="LITAF-like zinc ribbon domain; Region: zf-LITAF-like; pfam10601" /db_xref="CDD:204526" exon 291..447 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /inference="alignment:Splign:1.39.8" variation 304 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /replace="a" /replace="g" /db_xref="dbSNP:9282774" variation 342 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /replace="a" /replace="c" /db_xref="dbSNP:11544251" variation 344 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /replace="a" /replace="g" /db_xref="dbSNP:4280262" variation 403 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:34448402" exon 448..545 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /inference="alignment:Splign:1.39.8" exon 546..2569 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /inference="alignment:Splign:1.39.8" variation 797 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /replace="c" /replace="t" /db_xref="dbSNP:1801977" variation 1224 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /replace="a" /replace="t" /db_xref="dbSNP:79834068" STS 1420..1676 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /standard_name="SHGC-61147" /db_xref="UniSTS:21213" variation 1471 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /replace="a" /replace="t" /db_xref="dbSNP:15035" STS 1829..2004 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /standard_name="G62064" /db_xref="UniSTS:139179" variation 2007 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /replace="c" /replace="t" /db_xref="dbSNP:5031040" STS 2020..2144 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /standard_name="D16S3304" /db_xref="UniSTS:23420" STS 2219..2281 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /standard_name="D16S2671" /db_xref="UniSTS:152420" polyA_signal 2268..2273 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" polyA_site 2291 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" STS 2336..2517 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" /standard_name="RH70306" /db_xref="UniSTS:19202" polyA_signal 2549..2554 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" polyA_site 2569 /gene="LITAF" /gene_synonym="PIG7; SIMPLE; TP53I7" ORIGIN
ccttttctcggggcgcccgagaggccagctcagacctcccggctcgacaggcggcgcgggcggcggtaaaatgtcggttccaggaccttaccaggcggccactgggccttcctcagcaccatccgcacctccatcctatgaagagacagtggctgttaacagttattaccccacacctccagctcccatgcctgggccaactacggggcttgtgacggggcctgatgggaagggcatgaatcctccttcgtattatacccagccagcgcccatccccaataacaatccaattaccgtgcagacggtctacgtgcagcaccccatcacctttttggaccgccctatccaaatgtgttgtccttcctgcaacaagatgatcgtgagtcagctgtcctataacgccggtgctctgacctggctgtcctgcgggagcctgtgcctgctggggcaggagtgcagtggtacgatcgtagctctccgcagctttgatctcctgggctcctgcaatccgcccagctcagcctcctgagtacctgggaccacaggtgcatagcgggctgctgcttcatccccttctgcgtggatgccctgcaggacgtggaccattactgtcccaactgcagagctctcctgggcacctacaagcgtttgtaggactcagccagacgtggagggagccgggtgccgcaggaagtcctttccacctctcatccagcttcacgcctggtggaggttctgccctggtggtctcacctctccagggggcccaccttcatgtcttcttttggggggaatacgtcgcaaaactaacaaatctccaaaccccagaaattgctgcttggagtcgtgcataggacttgcaaagacattccccttgagtgtcagttccacggtttcctgcctccctgagaccctgagtcctgccatctaactgtgatcattgccctatccgaatatcttcctgtgatctgccatcagtggctcttttttcctgcttccatgggcctttctggtggcagtctcaaactgagaagccacagttgccttatttttgaggctgttctgcccagagctcggctgaaccagcctttagtgcctaccattatcttatccgtctcttcccgtccctgatgacaaagatcttgccttacagactttacaggcttggctttgagattctgtaactgcagacttcattagcacacagattcactttaatttcttaattttttttttaaatacaaggagggggctattaacacccagtacagacatatccacaaggtcgtaaatgcatgctagaaaaatagggctggatcttatcactgccctgtctccccttgtttctctgtgccagatcttcagtgcccctttccatacagggatttttttctcatagagtaattatatgaacagtttttatgacctccttttggtctgaaatacttttgaacagaatttcttttttttaaaaaaaaacagagatggggtcttactatgttgcccaggctggtgtcgaactcctgggctcaagcgatccttctgccttggcctcccgaagtgctgggattgcaggcataagctaccatgctgggcctgaacataatttcaagaggaggatttataaaaccattttctgtaatcaaatgattggtgtcattttcccatttgccaatgtagtctcacttaaaaaaaaaaaaaagaaaaagaaatggataatttcatctactgcctttacttggggttaatgtgattcttaaacaccttcatcatggaactctcagagtggggtccgttttggtttcctggtggtgggttttgaaagataagggaaagcacattttgagcatgtctgggtaccatggtgcggatgcttgggaaccagaactgtttcagaggaatctaaagtctgattttagttttcagagacacagcttgttgtaaaacatgagaagacatgatttctaggactcaagcagcaagccaggattctaggttggctgctgtgtcatctttgaagtcaagacaaagctgggctcgaccttcaagggtcctcgttttgataatacttcagaatagggaactcatgtgaatactactatgtagaaataaaacctagaccttgagcgaacatctgtatattggttgaaaacgatagtggtaaccattgatcccccttcatttgatgtttggaaaattccagtaattatcatttttgcaacgaatatggataccacatagtactttggtgttacctgcttttgaaaaataaagtctttggttcacccggtgaactatttatgagttcttttggtgtgaagaaagggctcatgttgcatttccagccattgctacaaagaacctttatttgttcagtaacggtagaaaatccttcccgattaaaaacttcagacttgctgaatatcctgcaatgtcaagatgaccgatgttgagttgggtggatttgctaacgagtcagatttgaacatgaggctattggaacccaataggcgtcattgatggcggcaagccatagctttcaagttttaataaaatgcacaaaagagaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:9516 -> Molecular function: GO:0004871 [signal transducer activity] evidence: IMP GeneID:9516 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:9516 -> Molecular function: GO:0050699 [WW domain binding] evidence: IPI GeneID:9516 -> Biological process: GO:0001817 [regulation of cytokine production] evidence: IEA GeneID:9516 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:9516 -> Biological process: GO:0006357 [regulation of transcription from RNA polymerase II promoter] evidence: TAS GeneID:9516 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:9516 -> Biological process: GO:0007165 [signal transduction] evidence: IMP GeneID:9516 -> Biological process: GO:0042347 [negative regulation of NF-kappaB import into nucleus] evidence: IEA GeneID:9516 -> Biological process: GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB cascade] evidence: IMP GeneID:9516 -> Biological process: GO:0071222 [cellular response to lipopolysaccharide] evidence: IEA GeneID:9516 -> Cellular component: GO:0005765 [lysosomal membrane] evidence: IDA GeneID:9516 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IDA GeneID:9516 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IMP GeneID:9516 -> Cellular component: GO:0005886 [plasma membrane] evidence: IMP
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