LOCUS       NM_005535               2713 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens interleukin 12 receptor subunit beta 1 (IL12RB1),
            transcript variant 1, mRNA.
ACCESSION   NM_005535
VERSION     NM_005535.3
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 2713)
  AUTHORS   Huang,J., He,Q., Huang,L., Liu,L., Yang,P. and Chen,M.
  TITLE     Discovering the link between IL12RB1 gene polymorphisms and
            tuberculosis susceptibility: a comprehensive meta-analysis
  JOURNAL   Front Public Health 12, 1249880 (2024)
   PUBMED   38317798
  REMARK    GeneRIF: Discovering the link between IL12RB1 gene polymorphisms
            and tuberculosis susceptibility: a comprehensive meta-analysis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2713)
  AUTHORS   Rosas Mejia,O., Claeys,T.A., Williams,A., Zafar,A. and
            Robinson,R.T.
  TITLE     IL12RB1 allele bias in human TH cells is regulated by functional
            SNPs in its 3'UTR
  JOURNAL   Cytokine 158, 155993 (2022)
   PUBMED   36007427
  REMARK    GeneRIF: IL12RB1 allele bias in human TH cells is regulated by
            functional SNPs in its 3'UTR.
REFERENCE   3  (bases 1 to 2713)
  AUTHORS   Khattak,F.A., Akbar,N.U., Riaz,M., Hussain,M., Rehman,K., Khan,S.N.
            and Khan,T.A.
  TITLE     Novel IL-12Rbeta1 deficiency-mediates recurrent cutaneous
            leishmaniasis
  JOURNAL   Int J Infect Dis 112, 338-345 (2021)
   PUBMED   34438084
  REMARK    GeneRIF: Novel IL-12Rbeta1 deficiency-mediates recurrent cutaneous
            leishmaniasis.
REFERENCE   4  (bases 1 to 2713)
  AUTHORS   Liu,M., Lu,B., Zeng,P., Huang,B., Xu,Y., Liang,H., Yang,D.,
            Yang,S., Luo,H.B., Lew,A.M., Masters,S.L., Geng,L., Zeng,H. and
            Zhang,Y.
  TITLE     Compound Heterozygous Mutations of IL12RB1 in a Patient with
            Selective Defects in Th17 Differentiation
  JOURNAL   J Clin Immunol 40 (4), 647-652 (2020)
   PUBMED   32221732
  REMARK    GeneRIF: Compound Heterozygous Mutations of IL12RB1 in a Patient
            with Selective Defects in Th17 Differentiation.
REFERENCE   5  (bases 1 to 2713)
  AUTHORS   Yamamoto,K., Kobayashi,H., Miura,O., Hirosawa,S. and Miyasaka,N.
  TITLE     Assignment of IL12RB1 and IL12RB2, interleukin-12 receptor beta 1
            and beta 2 chains, to human chromosome 19 band p13.1 and chromosome
            1 band p31.2, respectively, by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 77 (3-4), 257-258 (1997)
   PUBMED   9284929
REFERENCE   6  (bases 1 to 2713)
  AUTHORS   Presky,D.H., Yang,H., Minetti,L.J., Chua,A.O., Nabavi,N., Wu,C.Y.,
            Gately,M.K. and Gubler,U.
  TITLE     A functional interleukin 12 receptor complex is composed of two
            beta-type cytokine receptor subunits
  JOURNAL   Proc Natl Acad Sci U S A 93 (24), 14002-14007 (1996)
   PUBMED   8943050
REFERENCE   7  (bases 1 to 2713)
  AUTHORS   Gubler,U. and Presky,D.H.
  TITLE     Molecular biology of interleukin-12 receptors
  JOURNAL   Ann N Y Acad Sci 795, 36-40 (1996)
   PUBMED   8958915
REFERENCE   8  (bases 1 to 2713)
  AUTHORS   Ling,P., Gately,M.K., Gubler,U., Stern,A.S., Lin,P., Hollfelder,K.,
            Su,C., Pan,Y.C. and Hakimi,J.
  TITLE     Human IL-12 p40 homodimer binds to the IL-12 receptor but does not
            mediate biologic activity
  JOURNAL   J Immunol 154 (1), 116-127 (1995)
   PUBMED   7527811
REFERENCE   9  (bases 1 to 2713)
  AUTHORS   Gillessen,S., Carvajal,D., Ling,P., Podlaski,F.J., Stremlo,D.L.,
            Familletti,P.C., Gubler,U., Presky,D.H., Stern,A.S. and Gately,M.K.
  TITLE     Mouse interleukin-12 (IL-12) p40 homodimer: a potent IL-12
            antagonist
  JOURNAL   Eur J Immunol 25 (1), 200-206 (1995)
   PUBMED   7843232
REFERENCE   10 (bases 1 to 2713)
  AUTHORS   Chua,A.O., Chizzonite,R., Desai,B.B., Truitt,T.P., Nunes,P.,
            Minetti,L.J., Warrier,R.R., Presky,D.H., Levine,J.F., Gately,M.K.
            et al.
  TITLE     Expression cloning of a human IL-12 receptor component. A new
            member of the cytokine receptor superfamily with strong homology to
            gp130
  JOURNAL   J Immunol 153 (1), 128-136 (1994)
   PUBMED   7911493
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA008204.1, U03187.1,
            AI637915.1, AC020904.7 and BX647221.1.
            
            On May 17, 2019 this sequence version replaced NM_005535.2.
            
            Summary: The protein encoded by this gene is a type I transmembrane
            protein that belongs to the hemopoietin receptor superfamily. This
            protein binds to interleukine 12 (IL12) with a low affinity, and is
            thought to be a part of IL12 receptor complex. This protein forms a
            disulfide-linked oligomer, which is required for its IL12 binding
            activity. The coexpression of this and IL12RB2 proteins was shown
            to lead to the formation of high-affinity IL12 binding sites and
            reconstitution of IL12 dependent signaling. Mutations in this gene
            impair the development of interleukin-17-producing T lymphocytes
            and result in increased susceptibility to mycobacterial and
            Salmonella infections. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (1) represents the use of an
            alternate promoter, differs in the 5' UTR and uses a downstream
            start codon compared to variant 4. The encoded isoform (1, also
            known as Long) has a shorter N-terminus compared to isoform 4.
            
            Sequence Note: The 5' UTR was inferred from partial sequence data.
            
            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 :: U03187.1, BC137404.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000593993.7/ ENSP00000472165.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                DA008204.1         70-116
            48-2147             U03187.1           1-2100
            2148-2252           AI637915.1         462-566             c
            2253-2254           AC020904.7         105323-105324       c
            2255-2713           BX647221.1         2316-2774
FEATURES             Location/Qualifiers
     source          1..2713
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..2713
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /note="interleukin 12 receptor subunit beta 1"
                     /db_xref="GeneID:3594"
                     /db_xref="HGNC:HGNC:5971"
                     /db_xref="MIM:601604"
     exon            1..175
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     CDS             112..2100
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; IL-12 receptor beta component; interleukin-12
                     receptor beta-1 chain; IL-12R subunit beta-1; IL-12
                     receptor subunit beta-1; cluster of differentiation 212;
                     interleukin 12 receptor, beta 1"
                     /codon_start=1
                     /product="interleukin-12 receptor subunit beta-1 isoform 1
                     precursor"
                     /protein_id="NP_005526.1"
                     /db_xref="CCDS:CCDS54232.1"
                     /db_xref="GeneID:3594"
                     /db_xref="HGNC:HGNC:5971"
                     /db_xref="MIM:601604"
                     /translation="MEPLVTWVVPLLFLFLLSRQGAACRTSECCFQDPPYPDADSGSA
                     SGPRDLRCYRISSDRYECSWQYEGPTAGVSHFLRCCLSSGRCCYFAAGSATRLQFSDQ
                     AGVSVLYTVTLWVESWARNQTEKSPEVTLQLYNSVKYEPPLGDIKVSKLAGQLRMEWE
                     TPDNQVGAEVQFRHRTPSSPWKLGDCGPQDDDTESCLCPLEMNVAQEFQLRRRQLGSQ
                     GSSWSKWSSPVCVPPENPPQPQVRFSVEQLGQDGRRRLTLKEQPTQLELPEGCQGLAP
                     GTEVTYRLQLHMLSCPCKAKATRTLHLGKMPYLSGAAYNVAVISSNQFGPGLNQTWHI
                     PADTHTEPVALNISVGTNGTTMYWPARAQSMTYCIEWQPVGQDGGLATCSLTAPQDPD
                     PAGMATYSWSRESGAMGQEKCYYITIFASAHPEKLTLWSTVLSTYHFGGNASAAGTPH
                     HVSVKNHSLDSVSVDWAPSLLSTCPGVLKEYVVRCRDEDSKQVSEHPVQPTETQVTLS
                     GLRAGVAYTVQVRADTAWLRGVWSQPQRFSIEVQVSDWLIFFASLGSFLSILLVGVLG
                     YLGLNRAARHLCPPLPTPCASSAIEFPGGKETWQWINPVDFQEEASLQEALVVEMSWD
                     KGERTEPLEKTELPEGAPELALDTELSLEDGDRCKAKM"
     exon            176..235
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            236..350
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            351..520
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            521..660
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            661..691
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            692..811
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            812..894
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            895..1132
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            1133..1300
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            1301..1438
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            1439..1594
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            1595..1729
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            1730..1826
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            1827..1902
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            1903..2094
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     exon            2095..2713
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2713
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /note="major polyA site"
ORIGIN      
        1 agtcttttct ccttgctcag cttcaatgtg ttccggagtg gggacggggt ggctgaacct
       61 cgcaggtggc agagaggctc ccctggggct gtggggctct acgtggatcc gatggagccg
      121 ctggtgacct gggtggtccc cctcctcttc ctcttcctgc tgtccaggca gggcgctgcc
      181 tgcagaacca gtgagtgctg ttttcaggac ccgccatatc cggatgcaga ctcaggctcg
      241 gcctcgggcc ctagggacct gagatgctat cggatatcca gtgatcgtta cgagtgctcc
      301 tggcagtatg agggtcccac agctggggtc agccacttcc tgcggtgttg ccttagctcc
      361 gggcgctgct gctacttcgc cgccggctca gccaccaggc tgcagttctc cgaccaggct
      421 ggggtgtctg tgctgtacac tgtcacactc tgggtggaat cctgggccag gaaccagaca
      481 gagaagtctc ctgaggtgac cctgcagctc tacaactcag ttaaatatga gcctcctctg
      541 ggagacatca aggtgtccaa gttggccggg cagctgcgta tggagtggga gaccccggat
      601 aaccaggttg gtgctgaggt gcagttccgg caccggacac ccagcagccc atggaagttg
      661 ggcgactgcg gacctcagga tgatgatact gagtcctgcc tctgccccct ggagatgaat
      721 gtggcccagg aattccagct ccgacgacgg cagctgggga gccaaggaag ttcctggagc
      781 aagtggagca gccccgtgtg cgttccccct gaaaaccccc cacagcctca ggtgagattc
      841 tcggtggagc agctgggcca ggatgggagg aggcggctga ccctgaaaga gcagccaacc
      901 cagctggagc ttccagaagg ctgtcaaggg ctggcgcctg gcacggaggt cacttaccga
      961 ctacagctcc acatgctgtc ctgcccgtgt aaggccaagg ccaccaggac cctgcacctg
     1021 gggaagatgc cctatctctc gggtgctgcc tacaacgtgg ctgtcatctc ctcgaaccaa
     1081 tttggtcctg gcctgaacca gacgtggcac attcctgccg acacccacac agaaccagtg
     1141 gctctgaata tcagcgtcgg aaccaacggg accaccatgt attggccagc ccgggctcag
     1201 agcatgacgt attgcattga atggcagcct gtgggccagg acgggggcct tgccacctgc
     1261 agcctgactg cgccgcaaga cccggatccg gctggaatgg caacctacag ctggagtcga
     1321 gagtctgggg caatggggca ggaaaagtgt tactacatta ccatctttgc ctctgcgcac
     1381 cccgagaagc tcaccttgtg gtctacggtc ctgtccacct accactttgg gggcaatgcc
     1441 tcagcagctg ggacaccgca ccacgtctcg gtgaagaatc atagcttgga ctctgtgtct
     1501 gtggactggg caccatccct gctgagcacc tgtcccggcg tcctaaagga gtatgttgtc
     1561 cgctgccgag atgaagacag caaacaggtg tcagagcatc ccgtgcagcc cacagagacc
     1621 caagttaccc tcagtggcct gcgggctggt gtagcctaca cggtgcaggt gcgagcagac
     1681 acagcgtggc tgaggggtgt ctggagccag ccccagcgct tcagcatcga agtgcaggtt
     1741 tctgattggc tcatcttctt cgcctccctg gggagcttcc tgagcatcct tctcgtgggc
     1801 gtccttggct accttggcct gaacagggcc gcacggcacc tgtgcccgcc gctgcccaca
     1861 ccctgtgcca gctccgccat tgagttccct ggagggaagg agacttggca gtggatcaac
     1921 ccagtggact tccaggaaga ggcatccctg caggaggccc tggtggtaga gatgtcctgg
     1981 gacaaaggcg agaggactga gcctctcgag aagacagagc tacctgaggg tgcccctgag
     2041 ctggccctgg atacagagtt gtccttggag gatggagaca ggtgcaaggc caagatgtga
     2101 tcgttgaggc tcagagaggg tgagtgactc gcccgaggct acgtagcaca cacaggagtc
     2161 acatttggac ccaaataacc cagagctcct ccaggctcca gtgcacctgc ctcctctctg
     2221 ccccgtgcct gttgccaccc atcctgcggg ggaaccctag atgctgccat gaaatggaag
     2281 ctgctgcacc ctgctgggcc tggcatccgt ggggcaggag cagaccctgc catttacctg
     2341 ttctggcgta gaatggactg ggaatggggg caaggggggc tcagatggat ccctggaccc
     2401 tgggctgggc atccaccccc aggagcactg gatggggagt ctggactcaa gggctccctg
     2461 cagcattgcg gggtcttgta gcttggagga tccaggcata tagggaaggg ggctgtaaac
     2521 tttgtgggaa aaatgacggt cctcccatcc caccccccac cccaccctca cccccctata
     2581 aaatgggggt ggtgataatg accttacaca gctgttcaaa atcatcgtaa atgagcctcc
     2641 tcttgggtat ttttttcctg tttgaagctt gaatgtcctg ctcaaaatct caaaacacga
     2701 gccttggaat tca
//
