LOCUS       NM_005007               1451 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens NFKB inhibitor like 1 (NFKBIL1), transcript variant 1,
            mRNA.
ACCESSION   NM_005007
VERSION     NM_005007.4
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 1451)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1451)
  AUTHORS   Strenn,N., Hovey,D., Jonsson,L., Anckarsater,H., Lundstrom,S.,
            Lichtenstein,P. and Ekman,A.
  TITLE     Associations between autistic-like traits and polymorphisms in
            NFKBIL1
  JOURNAL   Acta Neuropsychiatr 31 (4), 220-229 (2019)
   PUBMED   31162003
  REMARK    GeneRIF: Study found significant associations for two single
            nucleotide polymorphisms in NFKBIL1: rs2239707 showed a significant
            distribution of genotype frequencies in the case-control analysis
            both for all individuals combined and in boys only, and rs2230365
            was significantly associated with the ALTs-module language
            impairment in boys only.
REFERENCE   3  (bases 1 to 1451)
  AUTHORS   Gichohi-Wainaina,W.N., Melse-Boonstra,A., Swinkels,D.W.,
            Zimmermann,M.B., Feskens,E.J. and Towers,G.W.
  TITLE     Common Variants and Haplotypes in the TF, TNF-alpha, and TMPRSS6
            Genes Are Associated with Iron Status in a Female Black South
            African Population
  JOURNAL   J Nutr 145 (5), 945-953 (2015)
   PUBMED   25809685
  REMARK    GeneRIF: genetic association studies in a population of black women
            in South Africa: Data suggest that an SNP in NFKBIL1 (rs2071592) is
            associated with iron status/iron-deficiency anemia in the
            population studied.
REFERENCE   4  (bases 1 to 1451)
  AUTHORS   An,J., Nakajima,T., Shibata,H., Arimura,T., Yasunami,M. and
            Kimura,A.
  TITLE     A novel link of HLA locus to the regulation of immunity and
            infection: NFKBIL1 regulates alternative splicing of human
            immune-related genes and influenza virus M gene
  JOURNAL   J Autoimmun 47, 25-33 (2013)
   PUBMED   23953137
  REMARK    GeneRIF: These observations suggest a functional involvement of
            IkappaBL in the regulation of alternative splicing in both human
            and viral genes, which is a novel link of HLA locus to the
            regulation of immunity and infection in humans.
REFERENCE   5  (bases 1 to 1451)
  AUTHORS   Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P.,
            Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A.,
            Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E.,
            Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C.,
            Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N.,
            Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A.,
            Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S.,
            D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C.,
            Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K.,
            Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A.,
            Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L.,
            Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W.,
            Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W.,
            Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J.,
            Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M.,
            Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J.,
            Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M.,
            Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S.,
            Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V.,
            Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G.,
            Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M.,
            Vermeire,S., Barrett,J.C. and Cho,J.H.
  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   6  (bases 1 to 1451)
  AUTHORS   de la Concha,E.G., Fernandez-Arquero,M., Lopez-Nava,G., Martin,E.,
            Allcock,R.J., Conejero,L., Paredes,J.G. and Diaz-Rubio,M.
  TITLE     Susceptibility to severe ulcerative colitis is associated with
            polymorphism in the central MHC gene IKBL
  JOURNAL   Gastroenterology 119 (6), 1491-1495 (2000)
   PUBMED   11113070
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 1451)
  AUTHORS   Neville,M.J. and Campbell,R.D.
  TITLE     A new member of the Ig superfamily and a V-ATPase G subunit are
            among the predicted products of novel genes close to the TNF locus
            in the human MHC
  JOURNAL   J Immunol 162 (8), 4745-4754 (1999)
   PUBMED   10202016
REFERENCE   8  (bases 1 to 1451)
  AUTHORS   Shiina,T., Tamiya,G., Oka,A., Yamagata,T., Yamagata,N., Kikkawa,E.,
            Goto,K., Mizuki,N., Watanabe,K., Fukuzumi,Y., Taguchi,S.,
            Sugawara,C., Ono,A., Chen,L., Yamazaki,M., Tashiro,H., Ando,A.,
            Ikemura,T., Kimura,M. and Inoko,H.
  TITLE     Nucleotide sequencing analysis of the 146-kilobase segment around
            the IkBL and MICA genes at the centromeric end of the HLA class I
            region
  JOURNAL   Genomics 47 (3), 372-382 (1998)
   PUBMED   9480751
REFERENCE   9  (bases 1 to 1451)
  AUTHORS   Albertella,M.R. and Campbell,R.D.
  TITLE     Characterization of a novel gene in the human major
            histocompatibility complex that encodes a potential new member of
            the I kappa B family of proteins
  JOURNAL   Hum Mol Genet 3 (5), 793-799 (1994)
   PUBMED   8081366
REFERENCE   10 (bases 1 to 1451)
  AUTHORS   Iris,F.J., Bougueleret,L., Prieur,S., Caterina,D., Primas,G.,
            Perrot,V., Jurka,J., Rodriguez-Tome,P., Claverie,J.M., Dausset,J.
            et al.
  TITLE     Dense Alu clustering and a potential new member of the NF kappa B
            family within a 90 kilobase HLA class III segment
  JOURNAL   Nat Genet 3 (2), 137-145 (1993)
   PUBMED   8499947
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291893.1, AF097422.1 and
            X77909.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005007.3.
            
            Summary: This gene encodes a divergent member of the I-kappa-B
            family of proteins. Its function has not been determined. The gene
            lies within the major histocompatibility complex (MHC) class I
            region on chromosome 6. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jan 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: ERR279874.4135.1,
                                           SRR1163657.104629.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376148.9/ ENSP00000365318.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-756               AK291893.1         33-788
            757-1421            AF097422.1         672-1336
            1422-1451           X77909.1           1403-1432
FEATURES             Location/Qualifiers
     source          1..1451
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..1451
                     /gene="NFKBIL1"
                     /gene_synonym="IKBL; NFKBIL"
                     /note="NFKB inhibitor like 1"
                     /db_xref="GeneID:4795"
                     /db_xref="HGNC:HGNC:7800"
                     /db_xref="MIM:601022"
     exon            1..144
                     /gene="NFKBIL1"
                     /gene_synonym="IKBL; NFKBIL"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..1233
                     /gene="NFKBIL1"
                     /gene_synonym="IKBL; NFKBIL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     I-kappa-B-like protein; NF-kappa-B inhibitor-like protein
                     1; ikappaBL; inhibitor of kappa B-like protein; nuclear
                     factor of kappa light polypeptide gene enhancer in B-cells
                     inhibitor-like 1"
                     /codon_start=1
                     /product="NF-kappa-B inhibitor-like protein 1 isoform 1"
                     /protein_id="NP_004998.3"
                     /db_xref="CCDS:CCDS4700.1"
                     /db_xref="GeneID:4795"
                     /db_xref="HGNC:HGNC:7800"
                     /db_xref="MIM:601022"
                     /translation="MSNPSPQVPEEEASTSVCRPKSSMASTSRRQRRERRFRRYLSAG
                     RLVRAQALLQRHPGLDVDAGQPPPLHRACARHDAPALCLLLRLGADPAHQDRHGDTAL
                     HAAARQGPDAYTDFFLPLLSRCPSAMGIKNKDGETPGQILGWGPPWDSAEEEEEDDAS
                     KEREWRQKLQGELEDEWQEVMGRFEGDASHETQEPESFSAWSDRLAREHAQKCQQQQR
                     EAEGSRRPPRAEGSSQSWRQQEEEQRLFRERARAKEEELRESRARRAQEALGDREPKP
                     TRAGPREEHPRGAGRGSLWRFGDVPWPCPGGGDPEAMAAALVARGPPLEEQGALRRYL
                     RVQQVRWHPDRFLQRFRSQIETWELGRVMGAVTALSQALNRHAEALK"
     exon            145..421
                     /gene="NFKBIL1"
                     /gene_synonym="IKBL; NFKBIL"
                     /inference="alignment:Splign:2.1.0"
     exon            422..643
                     /gene="NFKBIL1"
                     /gene_synonym="IKBL; NFKBIL"
                     /inference="alignment:Splign:2.1.0"
     exon            644..1451
                     /gene="NFKBIL1"
                     /gene_synonym="IKBL; NFKBIL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1428..1433
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NFKBIL1"
                     /gene_synonym="IKBL; NFKBIL"
                     /note="hexamer: AATAAG"
     polyA_site      1451
                     /gene="NFKBIL1"
                     /gene_synonym="IKBL; NFKBIL"
                     /note="major polyA site"
ORIGIN      
        1 ccttcccgcc tcccgtctcc gagcttctta aacacaggcc ttgggcctac ggctctgggg
       61 gtacttgggg gggcgggggc aggtctgatg agtaacccct ccccccaggt tccagaggaa
      121 gaagcctcca catctgtctg ccggcccaag agttccatgg cctccacttc ccgccgccaa
      181 cgccgagaac gtcgctttcg tcgttacttg tctgcaggac ggctggtccg ggcccaggcc
      241 ctcctccagc gacacccagg cctcgatgta gatgctgggc agcccccacc actgcaccgg
      301 gcctgtgccc gccacgatgc ccctgccctg tgcctgctgc ttcggctcgg ggctgaccct
      361 gcccaccagg accgccatgg ggacacggca ctgcatgctg ctgcccgcca gggcccagat
      421 gcctacaccg atttcttcct cccgctgcta agccgctgtc cctccgccat gggaataaag
      481 aataaggatg gggagacccc tggccaaatt ttgggctggg gacccccctg ggattctgct
      541 gaagaggagg aagaagatga tgcctccaag gagcgggaat ggagacagaa gctccagggt
      601 gagctggagg acgagtggca ggaagtcatg gggaggtttg aaggtgatgc ctcccatgaa
      661 acccaggaac ctgagtcctt ctcagcctgg tcagatcgcc tggcccggga acatgcccag
      721 aagtgccagc agcagcagcg agaagcagag ggatcccgtc gacccccacg tgctgagggc
      781 tccagccaga gctggcgaca gcaggaggag gagcagcggc tcttcaggga gcgagcccgg
      841 gccaaggagg aagagctgcg tgagagccga gccaggaggg cgcaggaggc tctaggggac
      901 cgagaaccca agccaaccag ggccgggccc agggaagagc accccagagg agcggggagg
      961 ggcagcctct ggcgatttgg tgatgtgccc tggccctgcc ctgggggagg ggacccagag
     1021 gccatggctg cagccctggt ggccaggggc ccccctttgg aggaacaggg ggctctgagg
     1081 aggtacttga gggtccagca ggtccgctgg caccctgacc gcttcctgca gcgattccga
     1141 agccagattg agacctggga gctgggccgt gtgatgggag cagtgacagc cctttctcag
     1201 gccctgaatc gccatgcaga ggccctcaag tgaccctagg gaagaagcaa gaaacttcgg
     1261 ggctgcagcc tcaggatgag gcagaaggaa gggtaaggga aaggatgggg accacaagga
     1321 agagccaggt gctgctcagc agaggatatg ggtgggagcg aaagttgtaa caagtggggg
     1381 tggggggtgc gggccgccac cactgctcct tgactctgcc gtttcctaat aagacctggt
     1441 tccacatctc a
//
