LOCUS       NM_001363527            2457 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens interferon gamma receptor 1 (IFNGR1), transcript
            variant 3, mRNA.
ACCESSION   NM_001363527 XM_006715471
VERSION     NM_001363527.1
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 2457)
  AUTHORS   Dhiman,N.S., Saini,V. and Kumar,V.
  TITLE     Single nucleotide polymorphism rs2234711 of interferon gamma
            receptor 1 is associated with pulmonary tuberculosis in the
            population of North India
  JOURNAL   Cytokine 169, 156274 (2023)
   PUBMED   37327531
  REMARK    GeneRIF: Single nucleotide polymorphism rs2234711 of interferon
            gamma receptor 1 is associated with pulmonary tuberculosis in the
            population of North India.
REFERENCE   2  (bases 1 to 2457)
  AUTHORS   Tsai,K.D., Lee,Y.C., Chen,B.Y., Wu,L.S., Liang,S.Y., Liu,M.Y.,
            Hung,Y.W., Hsu,H.L., Chen,P.Q., Shieh,J.C., Lee,Y.J. and Lin,T.H.
  TITLE     Recombinant Klotho attenuates IFNgamma receptor signaling and
            SAMHD1 expression through blocking NF-kappaB translocation in
            glomerular mesangial cells
  JOURNAL   Int J Med Sci 20 (6), 810-817 (2023)
   PUBMED   37213666
  REMARK    GeneRIF: Recombinant Klotho attenuates IFNgamma receptor signaling
            and SAMHD1 expression through blocking NF-kappaB translocation in
            glomerular mesangial cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2457)
  AUTHORS   Wu,S.Q., Ding,X.J., Yang,Q.L., Wang,M.G. and He,J.Q.
  TITLE     IFNG and IFNGR1 polymorphisms are associated with tuberculosis: a
            case-control study
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (23), 8777-8787 (2022)
   PUBMED   36524496
  REMARK    GeneRIF: IFNG and IFNGR1 polymorphisms are associated with
            tuberculosis: a case-control study.
REFERENCE   4  (bases 1 to 2457)
  AUTHORS   Cheng,L., Zhang,F., Wang,Y., Chen,J. and Yuan,X.
  TITLE     Association between IFNGR1 gene polymorphisms and tuberculosis
            susceptibility: A meta-analysis
  JOURNAL   Front Public Health 10, 976221 (2022)
   PUBMED   36148347
  REMARK    GeneRIF: Association between IFNGR1 gene polymorphisms and
            tuberculosis susceptibility: A meta-analysis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2457)
  AUTHORS   Varahram,M., Besharati,S., Farnia,P., Ghanavi,J., Saif,S.,
            Nia,J.H., Madani,M.R., Farnia,P. and Velayati,A.A.
  TITLE     Correlation of single-nucleotide polymorphism at interferon-gamma
            R1 (at Position - 56) in positive purified protein derivative
            health workers with COVID-19 infection
  JOURNAL   Int J Mycobacteriol 11 (3), 318-322 (2022)
   PUBMED   36260452
  REMARK    GeneRIF: Correlation of single-nucleotide polymorphism at
            interferon-gamma R1 (at Position - 56) in positive purified protein
            derivative health workers with COVID-19 infection.
REFERENCE   6  (bases 1 to 2457)
  AUTHORS   Szente,B.E., Subramaniam,P.S. and Johnson,H.M.
  TITLE     Identification of IFN-gamma receptor binding sites for JAK2 and
            enhancement of binding by IFN-gamma and its C-terminal peptide
            IFN-gamma(95-133)
  JOURNAL   J Immunol 155 (12), 5617-5622 (1995)
   PUBMED   7499845
REFERENCE   7  (bases 1 to 2457)
  AUTHORS   van Loon,A.P., Ozmen,L., Fountoulakis,M., Kania,M., Haiker,M. and
            Garotta,G.
  TITLE     High-affinity receptor for interferon-gamma (IFN-gamma), a
            ubiquitous protein occurring in different molecular forms on human
            cells: blood monocytes and eleven different cell lines have the
            same IFN-gamma receptor protein
  JOURNAL   J Leukoc Biol 49 (5), 462-473 (1991)
   PUBMED   1826725
REFERENCE   8  (bases 1 to 2457)
  AUTHORS   Le Coniat,M., Alcaide-Loridan,C., Fellous,M. and Berger,R.
  TITLE     Human interferon gamma receptor 1 (IFNGR1) gene maps to chromosome
            region 6q23-6q24
  JOURNAL   Hum Genet 84 (1), 92-94 (1989)
   PUBMED   2532616
REFERENCE   9  (bases 1 to 2457)
  AUTHORS   Aguet,M., Dembic,Z. and Merlin,G.
  TITLE     Molecular cloning and expression of the human interferon-gamma
            receptor
  JOURNAL   Cell 55 (2), 273-280 (1988)
   PUBMED   2971451
REFERENCE   10 (bases 1 to 2457)
  AUTHORS   Novick,D., Orchansky,P., Revel,M. and Rubinstein,M.
  TITLE     The human interferon-gamma receptor. Purification,
            characterization, and preparation of antibodies
  JOURNAL   J Biol Chem 262 (18), 8483-8487 (1987)
   PUBMED   2954953
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL050337.6.
            
            On May 21, 2018 this sequence version replaced XM_006715471.3.
            
            Summary: This gene (IFNGR1) encodes the ligand-binding chain
            (alpha) of the gamma interferon receptor. Human interferon-gamma
            receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation
            in IFNGR1 is associated with susceptibility to Helicobacter pylori
            infection. In addition, defects in IFNGR1 are a cause of mendelian
            susceptibility to mycobacterial disease, also known as familial
            disseminated atypical mycobacterial infection. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (3) is
            shorter at the N-terminus 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 :: SRR11853562.27943.1,
                                           SRR11853560.25375.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-525               AL050337.6         80282-80806         c
            526-640             AL050337.6         68573-68687         c
            641-813             AL050337.6         67746-67918         c
            814-986             AL050337.6         65942-66114         c
            987-1173            AL050337.6         65109-65295         c
            1174-1301           AL050337.6         62491-62618         c
            1302-2457           AL050337.6         59094-60249         c
FEATURES             Location/Qualifiers
     source          1..2457
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     gene            1..2457
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="interferon gamma receptor 1"
                     /db_xref="GeneID:3459"
                     /db_xref="HGNC:HGNC:5439"
                     /db_xref="MIM:107470"
     exon            1..525
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     exon            526..640
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     CDS             564..1910
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="isoform 3 is encoded by transcript variant 3;
                     antiviral protein, type 2; CD119 antigen; AVP, type 2;
                     interferon-gamma receptor alpha chain; immune interferon
                     receptor 1; IFN-gamma-R-alpha; CDw119; IFN-gamma-R1;
                     IFN-gamma receptor 1"
                     /codon_start=1
                     /product="interferon gamma receptor 1 isoform 3"
                     /protein_id="NP_001350456.1"
                     /db_xref="CCDS:CCDS87445.1"
                     /db_xref="GeneID:3459"
                     /db_xref="HGNC:HGNC:5439"
                     /db_xref="MIM:107470"
                     /translation="MNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHHYC
                     NISDHVGDPSNSLWVRVKARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMI
                     DIFHPSVFVNGDEQEVDYDPETTCYIRVYNVYVRMNGSEIQYKILTQKEDDCDEIQCQ
                     LAIPVSSLNSQYCVSAEGVLHVWGVTTEKSKEVCITIFNSSIKGSLWIPVVAALLLFL
                     VLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKPESKYVSLITSYQPFSLE
                     KEVVCEEPLSPATVPGMHTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIE
                     RESSSPLSSNQSEPGSIALNSYHSRNCSESDHSRNGFDTDSSCLESHSSLSDSEFPPN
                     NKGEIKTEGQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYRPTEDSKEFS"
     exon            641..813
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     exon            814..986
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1173
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1301
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..2457
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2437..2442
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="hexamer: AATAAA"
     polyA_site      2456
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="major polyA site"
ORIGIN      
        1 agggagggat ccgccccagc cgggaagccc cgccccgctt ctccgaggtc gccctagccc
       61 gggacccctg cgtcgggccc tgagcgggcg acggggacgc gaggtggggt cgcgagactg
      121 gggctccgtg gtttgaactc gtcggttgcc tttctcctgc ctcttccctg gttgccgcca
      181 caacaaatca cgccgcttgt ttttccgact cttgtaatcc acttttaaat acgattatgc
      241 gctgcagaag gacgttgctg gtcaatgtgg gacagcgtgg tctcaaagat tataatatcg
      301 tcttcttact gtaccttttt ttatggttag atacgcagat actcactagt atgctacggt
      361 tgcctgcagt gttcagtgca gtgacaggct gtacaggttc atgacctaag agcagtaggc
      421 tgtgtcatct gggtttgtct gggtttctac tgcccgaaga aattgcctaa ggggacattt
      481 ctccatttct cagaacggat ctccatcgtt aagtgacgca tgacttgcct acaccaacta
      541 atgttacaat tgaatcctat aacatgaacc ctatcgtata ttgggagtac cagatcatgc
      601 cacaggtccc tgtttttacc gtagaggtaa agaactatgg tgttaagaat tcagaatgga
      661 ttgatgcctg catcaatatt tctcatcatt attgtaatat ttctgatcat gttggtgatc
      721 catcaaattc tctttgggtc agagttaaag ccagggttgg acaaaaagaa tctgcctatg
      781 caaagtcaga agaatttgct gtatgccgag atggaaaaat tggaccacct aaactggata
      841 tcagaaagga ggagaagcaa atcatgattg acatatttca cccttcagtt tttgtaaatg
      901 gagacgagca ggaagtcgat tatgatcccg aaactacctg ttacattagg gtgtacaatg
      961 tgtatgtgag aatgaacgga agtgagatcc agtataaaat actcacgcag aaggaagatg
     1021 attgtgacga gattcagtgc cagttagcga ttccagtatc ctcactgaat tctcagtact
     1081 gtgtttcagc agaaggagtc ttacatgtgt ggggtgttac aactgaaaag tcaaaagaag
     1141 tttgtattac cattttcaat agcagtataa aaggttctct ttggattcca gttgttgctg
     1201 ctttactact ctttctagtg cttagcctgg tattcatctg tttttatatt aagaaaatta
     1261 atccattgaa ggaaaaaagc ataatattac ccaagtcctt gatctctgtg gtaagaagtg
     1321 ctactttaga gacaaaacct gaatcaaaat atgtatcact catcacgtca taccagccat
     1381 tttccttaga aaaggaggtg gtctgtgaag agccgttgtc tccagcaaca gttccaggca
     1441 tgcataccga agacaatcca ggaaaagtgg aacatacaga agaactttct agtataacag
     1501 aagtggtgac tactgaagaa aatattcctg acgtggtccc gggcagccat ctgactccaa
     1561 tagagagaga gagttcttca cctttaagta gtaaccagtc tgaacctggc agcatcgctt
     1621 taaactcgta tcactccaga aattgttctg agagtgatca ctccagaaat ggttttgata
     1681 ctgattccag ctgtctggaa tcacatagct ccttatctga ctcagaattt cccccaaata
     1741 ataaaggtga aataaaaaca gaaggacaag agctcataac cgtaataaaa gcccccacct
     1801 cctttggtta tgataaacca catgtgctag tggatctact tgtggatgat agcggtaaag
     1861 agtccttgat tggttataga ccaacagaag attccaaaga attttcatga gatcagctaa
     1921 gttgcaccaa ctttgaagtc tgattttcct ggacagtttt ctgctttaat ttcatgaaaa
     1981 gattatgatc tcagaaattg tatcttagtt ggtatcaacc aaatggagtg acttagtgta
     2041 catgaaagcg taaagaggat gtgtggcatt ttcacttttg gcttgtaaag tacagacttt
     2101 tttttttttt taaacaaaaa aagcattgta acttatgaac ctttacatcc agataggtta
     2161 ccagtaacgg aacagtatcc agtactcctg gttcctaggt gagcaggtga tgccccaggg
     2221 acctttgtag ccacttcact ttttttcttt tctctgcctt ggtatagcat atgtttttgt
     2281 aagtttatgc atacagtaat tttaagtaat ttcagaagaa attctgcaag cttttcaaaa
     2341 ttggacttaa aatctaattc aaactaatag aattaatgga atatgtaaat agaaacgtgt
     2401 atatttttta tgaaacatta cagttagaga tttttaaata aagaatttta aaactcg
//
