LOCUS       NM_001099857            1973 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens inhibitor of nuclear factor kappa B kinase regulatory
            subunit gamma (IKBKG), transcript variant 5, mRNA.
ACCESSION   NM_001099857
VERSION     NM_001099857.5
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 1973)
  AUTHORS   Steffann,J., De Oliveira Santos,J., Zelbin,A.L., Hadj-Rabia,S.,
            Charbit-Henrion,F. and Petit,F.
  TITLE     Familial recurrence of incontinentia pigmenti due to de novo
            pathogenic variants in the IKBKG gene
  JOURNAL   Am J Med Genet A 194 (8), e63591 (2024)
   PUBMED   38536952
  REMARK    GeneRIF: Familial recurrence of incontinentia pigmenti due to de
            novo pathogenic variants in the IKBKG gene.
REFERENCE   2  (bases 1 to 1973)
  AUTHORS   Yin,L., Li,Z., Zhan,W., Kang,Y., Tian,Q., Li,D. and Zhang,H.
  TITLE     Central nervous system anomalies in 41 Chinese children
            incontinentia pigmenti
  JOURNAL   BMC Neurosci 25 (1), 25 (2024)
   PUBMED   38773385
  REMARK    GeneRIF: Central nervous system anomalies in 41 Chinese children
            incontinentia pigmenti.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1973)
  AUTHORS   Tsesmelis,M., Buttner,U.F.G., Gerstenlauer,M., Manfras,U.,
            Tsesmelis,K., Du,Z., Sperb,N., Weissinger,S.E., Moller,P.,
            Barth,T.F.E., Maier,H.J., Chan,L.K. and Wirth,T.
  TITLE     NEMO/NF-kappaB signaling functions as a double-edged sword in PanIN
            formation versus progression to pancreatic cancer
  JOURNAL   Mol Cancer 23 (1), 103 (2024)
   PUBMED   38755681
  REMARK    GeneRIF: NEMO/NF-kappaB signaling functions as a double-edged sword
            in PanIN formation versus progression to pancreatic cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1973)
  AUTHORS   Tak,J., Joo,M.S., Kim,Y.S., Park,H.W., Lee,C.H., Park,G.C.,
            Hwang,S. and Kim,S.G.
  TITLE     Dual regulation of NEMO by Nrf2 and miR-125a inhibits ferroptosis
            and protects liver from endoplasmic reticulum stress-induced injury
  JOURNAL   Theranostics 14 (5), 1841-1859 (2024)
   PUBMED   38505605
  REMARK    GeneRIF: Dual regulation of NEMO by Nrf2 and miR-125a inhibits
            ferroptosis and protects liver from endoplasmic reticulum
            stress-induced injury.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1973)
  AUTHORS   Li,Y., Kang,J., Friedman,J., Tarassishin,L., Ye,J., Kovalenko,A.,
            Wallach,D. and Horwitz,M.S.
  TITLE     Identification of a cell protein (FIP-3) as a modulator of
            NF-kappaB activity and as a target of an adenovirus inhibitor of
            tumor necrosis factor alpha-induced apoptosis
  JOURNAL   Proc Natl Acad Sci U S A 96 (3), 1042-1047 (1999)
   PUBMED   9927690
REFERENCE   6  (bases 1 to 1973)
  AUTHORS   Mercurio,F., Murray,B.W., Shevchenko,A., Bennett,B.L., Young,D.B.,
            Li,J.W., Pascual,G., Motiwala,A., Zhu,H., Mann,M. and Manning,A.M.
  TITLE     IkappaB kinase (IKK)-associated protein 1, a common component of
            the heterogeneous IKK complex
  JOURNAL   Mol Cell Biol 19 (2), 1526-1538 (1999)
   PUBMED   9891086
REFERENCE   7  (bases 1 to 1973)
  AUTHORS   Rothwarf,D.M., Zandi,E., Natoli,G. and Karin,M.
  TITLE     IKK-gamma is an essential regulatory subunit of the IkappaB kinase
            complex
  JOURNAL   Nature 395 (6699), 297-300 (1998)
   PUBMED   9751060
REFERENCE   8  (bases 1 to 1973)
  AUTHORS   Arch,R.H., Gedrich,R.W. and Thompson,C.B.
  TITLE     Tumor necrosis factor receptor-associated factors (TRAFs)--a family
            of adapter proteins that regulates life and death
  JOURNAL   Genes Dev 12 (18), 2821-2830 (1998)
   PUBMED   9744859
  REMARK    Review article
REFERENCE   9  (bases 1 to 1973)
  AUTHORS   Scheuerle,A.E. and Ursini,M.V.
  TITLE     Incontinentia Pigmenti
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301645
REFERENCE   10 (bases 1 to 1973)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - 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   20301552
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC244090.3.
            
            On Mar 16, 2020 this sequence version replaced NM_001099857.4.
            
            Summary: This gene encodes the regulatory subunit of the inhibitor
            of kappaB kinase (IKK) complex, which activates NF-kappaB resulting
            in activation of genes involved in inflammation, immunity, cell
            survival, and other pathways. Mutations in this gene result in
            incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and
            several other types of immunodeficiencies. A pseudogene highly
            similar to this locus is located in an adjacent region of the X
            chromosome. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (5), as well as variants 1, 3, and
            7, encodes isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BC000299.2, AF062089.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000594239.6/ ENSP00000471166.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-126               AC244090.3         174399-174524
            127-328             AC244090.3         178767-178968
            329-540             AC244090.3         182944-183155
            541-659             AC244090.3         185311-185429
            660-812             AC244090.3         187186-187338
            813-909             AC244090.3         188467-188563
            910-1053            AC244090.3         189589-189732
            1054-1196           AC244090.3         190338-190480
            1197-1258           AC244090.3         190738-190799
            1259-1973           AC244090.3         191098-191812
FEATURES             Location/Qualifiers
     source          1..1973
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1973
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /note="inhibitor of nuclear factor kappa B kinase
                     regulatory subunit gamma"
                     /db_xref="GeneID:8517"
                     /db_xref="HGNC:HGNC:5961"
                     /db_xref="MIM:300248"
     exon            1..126
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /inference="alignment:Splign:2.1.0"
     exon            127..328
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..1401
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /note="isoform a is encoded by transcript variant 5;
                     incontinentia pigmenti; NF-kappa-B essential modulator;
                     ikB kinase subunit gamma; inhibitor of kappa light
                     polypeptide gene enhancer in B-cells, kinase gamma;
                     NF-kappa-B essential modifier; I-kappa-B kinase subunit
                     gamma; ikB kinase-associated protein 1; inhibitor of
                     nuclear factor kappa B kinase subunit gamma; 14.7K
                     (adenovirus E3 protein) interacting protein 3"
                     /codon_start=1
                     /product="NF-kappa-B essential modulator isoform a"
                     /protein_id="NP_001093327.1"
                     /db_xref="CCDS:CCDS14757.1"
                     /db_xref="GeneID:8517"
                     /db_xref="HGNC:HGNC:5961"
                     /db_xref="MIM:300248"
                     /translation="MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSE
                     QGAPETLQRCLEENQELRDAIRQSNQILRERCEELLHFQASQREEKEFLMCKFQEARK
                     LVERLGLEKLDLKRQKEQALREVEHLKRCQQQMAEDKASVKAQVTSLLGELQESQSRL
                     EAATKECQALEGRARAASEQARQLESEREALQQQHSVQVDQLRMQGQSVEAALRMERQ
                     AASEEKRKLAQLQVAYHQLFQEYDNHIKSSVVGSERKRGMQLEDLKQQLQQAEEALVA
                     KQEVIDKLKEEAEQHKIVMETVPVLKAQADIYKADFQAERQAREKLAEKKELLQEQLE
                     QLQREYSKLKASCQESARIEDMRKRHVEVSQAPLPPAPAYLSSPLALPSQRRSPPEEP
                     PDFCCPKCQYQAPDMDTLQIHVMECIE"
     exon            329..540
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /inference="alignment:Splign:2.1.0"
     exon            541..659
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /inference="alignment:Splign:2.1.0"
     exon            660..812
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /inference="alignment:Splign:2.1.0"
     exon            813..909
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1053
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..1196
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1258
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1259..1973
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1955..1960
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /note="hexamer: AATAAT"
     polyA_site      1973
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /note="major polyA site"
ORIGIN      
        1 ggaagccgga agcgtggtag ggaagggcga ccgcgaaact gggactttct cggagcgccg
       61 gggccctacc agcgttcaca gtccgccgct cccacccttc tcacgtctga cggactctgc
      121 tgacagccct tgccctgttg gatgaatagg cacctctgga agagccaact gtgtgagatg
      181 gtgcagccca gtggtggccc ggcagcagat caggacgtac tgggcgaaga gtctcctctg
      241 gggaagccag ccatgctgca cctgccttca gaacagggcg ctcctgagac cctccagcgc
      301 tgcctggagg agaatcaaga gctccgagat gccatccggc agagcaacca gattctgcgg
      361 gagcgctgcg aggagcttct gcatttccaa gccagccaga gggaggagaa ggagttcctc
      421 atgtgcaagt tccaggaggc caggaaactg gtggagagac tcggcctgga gaagctcgat
      481 ctgaagaggc agaaggagca ggctctgcgg gaggtggagc acctgaagag atgccagcag
      541 cagatggctg aggacaaggc ctctgtgaaa gcccaggtga cgtccttgct cggggagctg
      601 caggagagcc agagtcgctt ggaggctgcc actaaggaat gccaggctct ggagggtcgg
      661 gcccgggcgg ccagcgagca ggcgcggcag ctggagagtg agcgcgaggc gctgcagcag
      721 cagcacagcg tgcaggtgga ccagctgcgc atgcagggcc agagcgtgga ggccgcgctc
      781 cgcatggagc gccaggccgc ctcggaggag aagaggaagc tggcccagtt gcaggtggcc
      841 tatcaccagc tcttccaaga atacgacaac cacatcaaga gcagcgtggt gggcagtgag
      901 cggaagcgag gaatgcagct ggaagatctc aaacagcagc tccagcaggc cgaggaggcc
      961 ctggtggcca aacaggaggt gatcgataag ctgaaggagg aggccgagca gcacaagatt
     1021 gtgatggaga ccgttccggt gctgaaggcc caggcggata tctacaaggc ggacttccag
     1081 gctgagaggc aggcccggga gaagctggcc gagaagaagg agctcctgca ggagcagctg
     1141 gagcagctgc agagggagta cagcaaactg aaggccagct gtcaggagtc ggccaggatc
     1201 gaggacatga ggaagcggca tgtcgaggtc tcccaggccc ccttgccccc cgcccctgcc
     1261 tacctctcct ctcccctggc cctgcccagc cagaggagga gcccccccga ggagccacct
     1321 gacttctgct gtcccaagtg ccagtatcag gcccctgata tggacaccct gcagatacat
     1381 gtcatggagt gcattgagta gggccggcca gtgcaaggcc actgcctgcc gaggacgtgc
     1441 ccgggaccgt gcagtctgcg ctttcctctc ccgcctgcct agcccaggat gaagggctgg
     1501 gtggccacaa ctgggatgcc acctggagcc ccacccagga gctggccgcg gcaccttacg
     1561 cttcagctgt tgatccgctg gtcccctctt ttggggtaga tgcggccccg atcaggcctg
     1621 actcgctgct ctttttgttc ccttctgtct gctcgaacca cttgcctcgg gctaatccct
     1681 ccctcttcct ccacccggca ctggggaagt caagaatggg gcctggggct ctcagggaga
     1741 actgcttccc ctggcagagc tgggtggccg ctcttcctcc caccggacac cgacccgccc
     1801 gccgctgtgc cctgggagtg ctgccctctt accatgcaca cgggtgctct ccttttgggc
     1861 tgcatgctat tccattttgc agccagaccg atgtgtattt aaccagtcac tattgatgga
     1921 catttgggtt gtttcccatc tttttgttac cataaataat ggcatagtaa aaa
//
