LOCUS       NM_001136472            2440 bp    mRNA    linear   PRI 18-MAR-2025
DEFINITION  Homo sapiens lipopolysaccharide induced TNF factor (LITAF),
            transcript variant 2, mRNA.
ACCESSION   NM_001136472
VERSION     NM_001136472.2
KEYWORDS    RefSeq; MANE Select.
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 2440)
  AUTHORS   Tian,X., Zhang,Y., Zhao,M. and Yin,X.
  TITLE     Circ_0030042 inhibits trophoblast cell growth, invasion and
            epithelial-mesenchymal transition process in preeclampsia via
            miR-942-5p/LITAF
  JOURNAL   J Reprod Immunol 162, 104205 (2024)
   PUBMED   38262261
  REMARK    GeneRIF: Circ_0030042 inhibits trophoblast cell growth, invasion
            and epithelial-mesenchymal transition process in preeclampsia via
            miR-942-5p/LITAF.
REFERENCE   2  (bases 1 to 2440)
  AUTHORS   Park,J., Kim,H.S., Kwon,H.M., Kim,J., Nam,S.H., Jung,N.Y.,
            Lee,A.J., Jung,Y.H., Kim,S.B., Chung,K.W. and Choi,B.O.
  TITLE     Identification and clinical characterization of Charcot-Marie-Tooth
            disease type 1C patients with LITAF p.G112S mutation
  JOURNAL   Genes Genomics 44 (8), 1007-1016 (2022)
   PUBMED   35608774
  REMARK    GeneRIF: Identification and clinical characterization of
            Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S
            mutation.
REFERENCE   3  (bases 1 to 2440)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   4  (bases 1 to 2440)
  AUTHORS   Song,J., Liu,Y., Wan,J., Zhao,G.N., Wang,J.C., Dai,Z., Hu,S.,
            Yang,L., Liu,Z., Fu,Y., Dong,E. and Tang,Y.D.
  TITLE     SIMPLE Is an Endosomal Regulator That Protects Against NAFLD by
            Targeting the Lysosomal Degradation of EGFR
  JOURNAL   Hepatology 74 (6), 3091-3109 (2021)
   PUBMED   34320238
  REMARK    GeneRIF: SIMPLE Is an Endosomal Regulator That Protects Against
            NAFLD by Targeting the Lysosomal Degradation of EGFR.
REFERENCE   5  (bases 1 to 2440)
  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   6  (bases 1 to 2440)
  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   7  (bases 1 to 2440)
  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   8  (bases 1 to 2440)
  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
REFERENCE   9  (bases 1 to 2440)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   10 (bases 1 to 2440)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 1 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301384
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK314519.1, AB034747.1 and
            AA625937.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001136472.1.
            
            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].
            
            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.
            
            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 :: SRR18074969.2002125.1,
                                           SRR11853563.12144.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000622633.5/ ENSP00000483114.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-160               AK314519.1         32-191
            161-2162            AB034747.1         355-2356
            2163-2440           AA625937.1         9-286               c
FEATURES             Location/Qualifiers
     source          1..2440
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.13"
     gene            1..2440
                     /gene="LITAF"
                     /gene_synonym="PIG7; SIMPLE; TP53I7"
                     /note="lipopolysaccharide induced TNF factor"
                     /db_xref="GeneID:9516"
                     /db_xref="HGNC:HGNC:16841"
                     /db_xref="MIM:603795"
     exon            1..34
                     /gene="LITAF"
                     /gene_synonym="PIG7; SIMPLE; TP53I7"
                     /inference="alignment:Splign:2.1.0"
     exon            35..259
                     /gene="LITAF"
                     /gene_synonym="PIG7; SIMPLE; TP53I7"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..525
                     /gene="LITAF"
                     /gene_synonym="PIG7; SIMPLE; TP53I7"
                     /note="isoform 1 is encoded by transcript variant 2; 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; small
                     integral membrane protein of the late endosome"
                     /codon_start=1
                     /product="lipopolysaccharide-induced tumor necrosis
                     factor-alpha factor isoform 1"
                     /protein_id="NP_001129944.1"
                     /db_xref="CCDS:CCDS32386.1"
                     /db_xref="GeneID:9516"
                     /db_xref="HGNC:HGNC:16841"
                     /db_xref="MIM:603795"
                     /translation="MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPT
                     TGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKM
                     IVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
                     L"
     exon            260..416
                     /gene="LITAF"
                     /gene_synonym="PIG7; SIMPLE; TP53I7"
                     /inference="alignment:Splign:2.1.0"
     exon            417..2440
                     /gene="LITAF"
                     /gene_synonym="PIG7; SIMPLE; TP53I7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2139..2144
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LITAF"
                     /gene_synonym="PIG7; SIMPLE; TP53I7"
                     /note="hexamer: AATAAA"
     polyA_site      2165
                     /gene="LITAF"
                     /gene_synonym="PIG7; SIMPLE; TP53I7"
                     /note="major polyA site"
     regulatory      2420..2425
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LITAF"
                     /gene_synonym="PIG7; SIMPLE; TP53I7"
                     /note="hexamer: AATAAA"
     polyA_site      2440
                     /gene="LITAF"
                     /gene_synonym="PIG7; SIMPLE; TP53I7"
ORIGIN      
        1 agacctcccg gctcgacagg cggcgcgggc ggcggtaaaa tgtcggttcc aggaccttac
       61 caggcggcca ctgggccttc ctcagcacca tccgcacctc catcctatga agagacagtg
      121 gctgttaaca gttattaccc cacacctcca gctcccatgc ctgggccaac tacggggctt
      181 gtgacggggc ctgatgggaa gggcatgaat cctccttcgt attataccca gccagcgccc
      241 atccccaata acaatccaat taccgtgcag acggtctacg tgcagcaccc catcaccttt
      301 ttggaccgcc ctatccaaat gtgttgtcct tcctgcaaca agatgatcgt gagtcagctg
      361 tcctataacg ccggtgctct gacctggctg tcctgcggga gcctgtgcct gctggggtgc
      421 atagcgggct gctgcttcat ccccttctgc gtggatgccc tgcaggacgt ggaccattac
      481 tgtcccaact gcagagctct cctgggcacc tacaagcgtt tgtaggactc agccagacgt
      541 ggagggagcc gggtgccgca ggaagtcctt tccacctctc atccagcttc acgcctggtg
      601 gaggttctgc cctggtggtc tcacctctcc agggggccca ccttcatgtc ttcttttggg
      661 gggaatacgt cgcaaaacta acaaatctcc aaaccccaga aattgctgct tggagtcgtg
      721 cataggactt gcaaagacat tccccttgag tgtcagttcc acggtttcct gcctccctga
      781 gaccctgagt cctgccatct aactgtgatc attgccctat ccgaatatct tcctgtgatc
      841 tgccatcagt ggctcttttt tcctgcttcc atgggccttt ctggtggcag tctcaaactg
      901 agaagccaca gttgccttat ttttgaggct gttctgccca gagctcggct gaaccagcct
      961 ttagtgccta ccattatctt atccgtctct tcccgtccct gatgacaaag atcttgcctt
     1021 acagacttta caggcttggc tttgagattc tgtaactgca gacttcatta gcacacagat
     1081 tcactttaat ttcttaattt tttttttaaa tacaaggagg gggctattaa cacccagtac
     1141 agacatatcc acaaggtcgt aaatgcatgc tagaaaaata gggctggatc ttatcactgc
     1201 cctgtctccc cttgtttctc tgtgccagat cttcagtgcc cctttccata cagggatttt
     1261 tttctcatag agtaattata tgaacagttt ttatgacctc cttttggtct gaaatacttt
     1321 tgaacagaat ttcttttttt taaaaaaaaa cagagatggg gtcttactat gttgcccagg
     1381 ctggtgtcga actcctgggc tcaagcgatc cttctgcctt ggcctcccga agtgctggga
     1441 ttgcaggcat aagctaccat gctgggcctg aacataattt caagaggagg atttataaaa
     1501 ccattttctg taatcaaatg attggtgtca ttttcccatt tgccaatgta gtctcactta
     1561 aaaaaaaaaa aaagaaaaag aaatggataa tttcatctac tgcctttact tggggttaat
     1621 gtgattctta aacaccttca tcatggaact ctcagagtgg ggtccgtttt ggtttcctgg
     1681 tggtgggttt tgaaagataa gggaaagcac attttgagca tgtctgggta ccatggtgcg
     1741 gatgcttggg aaccagaact gtttcagagg aatctaaagt ctgattttag ttttcagaga
     1801 cacagcttgt tgtaaaacat gagaagacat gatttctagg actcaagcag caagccagga
     1861 ttctaggttg gctgctgtgt catctttgaa gtcaagacaa agctgggctc gaccttcaag
     1921 ggtcctcgtt ttgataatac ttcagaatag ggaactcatg tgaatactac tatgtagaaa
     1981 taaaacctag accttgagcg aacatctgta tattggttga aaacgatagt ggtaaccatt
     2041 gatccccctt catttgatgt ttggaaaatt ccagtaatta tcatttttgc aacgaatatg
     2101 gataccacat agtactttgg tgttacctgc ttttgaaaaa taaagtcttt ggttcacccg
     2161 gtgaactatt tatgagttct tttggtgtga agaaagggct catgttgcat ttccagccat
     2221 tgctacaaag aacctttatt tgttcagtaa cggtagaaaa tccttcccga ttaaaaactt
     2281 cagacttgct gaatatcctg caatgtcaag atgaccgatg ttgagttggg tggatttgct
     2341 aacgagtcag atttgaacat gaggctattg gaacccaata ggcgtcattg atggcggcaa
     2401 gccatagctt tcaagtttta ataaaatgca caaaagagaa
//
