LOCUS       NM_000416               2074 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens interferon gamma receptor 1 (IFNGR1), transcript
            variant 1, mRNA.
ACCESSION   NM_000416
VERSION     NM_000416.3
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 2074)
  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 2074)
  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 2074)
  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 2074)
  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 2074)
  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 2074)
  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 2074)
  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 2074)
  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 2074)
  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 2074)
  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 BC005333.1, AK127636.1 and
            BU674317.1.
            
            On Dec 4, 2019 this sequence version replaced NM_000416.2.
            
            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 (1) 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 :: J03143.1, EF535103.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367739.9/ ENSP00000356713.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1729              BC005333.1         25-1753
            1730-1810           BC005333.1         1755-1835
            1811-2072           AK127636.1         2067-2328
            2073-2074           BU674317.1         20-21               c
FEATURES             Location/Qualifiers
     source          1..2074
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     gene            1..2074
                     /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..143
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1528
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 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 1 precursor"
                     /protein_id="NP_000407.1"
                     /db_xref="CCDS:CCDS5185.1"
                     /db_xref="GeneID:3459"
                     /db_xref="HGNC:HGNC:5439"
                     /db_xref="MIM:107470"
                     /translation="MALLFLLPLVMQGVSRAEMGTADLGPSSVPTPTNVTIESYNMNP
                     IVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHHYCNISDHVGDPSNSLWVRV
                     KARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVD
                     YDPETTCYIRVYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCVSAE
                     GVLHVWGVTTEKSKEVCITIFNSSIKGSLWIPVVAALLLFLVLSLVFICFYIKKINPL
                     KEKSIILPKSLISVVRSATLETKPESKYVSLITSYQPFSLEKEVVCEEPLSPATVPGM
                     HTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIERESSSPLSSNQSEPGSI
                     ALNSYHSRNCSESDHSRNGFDTDSSCLESHSSLSDSEFPPNNKGEIKTEGQELITVIK
                     APTSFGYDKPHVLVDLLVDDSGKESLIGYRPTEDSKEFS"
     exon            144..258
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     exon            259..431
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     exon            432..604
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     exon            605..791
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     exon            792..919
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     exon            920..2074
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2055..2060
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="hexamer: AATAAA"
     polyA_site      2074
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="major polyA site"
ORIGIN      
        1 agtgctgggc tggtcccgca ggcgctcggg gttggagcca gcgaccgtcg gtagcagcat
       61 ggctctcctc tttctcctac cccttgtcat gcagggtgtg agcagggctg agatgggcac
      121 cgcggatctg gggccgtcct cagtgcctac accaactaat gttacaattg aatcctataa
      181 catgaaccct atcgtatatt gggagtacca gatcatgcca caggtccctg tttttaccgt
      241 agaggtaaag aactatggtg ttaagaattc agaatggatt gatgcctgca tcaatatttc
      301 tcatcattat tgtaatattt ctgatcatgt tggtgatcca tcaaattctc tttgggtcag
      361 agttaaagcc agggttggac aaaaagaatc tgcctatgca aagtcagaag aatttgctgt
      421 atgccgagat ggaaaaattg gaccacctaa actggatatc agaaaggagg agaagcaaat
      481 catgattgac atatttcacc cttcagtttt tgtaaatgga gacgagcagg aagtcgatta
      541 tgatcccgaa actacctgtt acattagggt gtacaatgtg tatgtgagaa tgaacggaag
      601 tgagatccag tataaaatac tcacgcagaa ggaagatgat tgtgacgaga ttcagtgcca
      661 gttagcgatt ccagtatcct cactgaattc tcagtactgt gtttcagcag aaggagtctt
      721 acatgtgtgg ggtgttacaa ctgaaaagtc aaaagaagtt tgtattacca ttttcaatag
      781 cagtataaaa ggttctcttt ggattccagt tgttgctgct ttactactct ttctagtgct
      841 tagcctggta ttcatctgtt tttatattaa gaaaattaat ccattgaagg aaaaaagcat
      901 aatattaccc aagtccttga tctctgtggt aagaagtgct actttagaga caaaacctga
      961 atcaaaatat gtatcactca tcacgtcata ccagccattt tccttagaaa aggaggtggt
     1021 ctgtgaagag ccgttgtctc cagcaacagt tccaggcatg cataccgaag acaatccagg
     1081 aaaagtggaa catacagaag aactttctag tataacagaa gtggtgacta ctgaagaaaa
     1141 tattcctgac gtggtcccgg gcagccatct gactccaata gagagagaga gttcttcacc
     1201 tttaagtagt aaccagtctg aacctggcag catcgcttta aactcgtatc actccagaaa
     1261 ttgttctgag agtgatcact ccagaaatgg ttttgatact gattccagct gtctggaatc
     1321 acatagctcc ttatctgact cagaatttcc cccaaataat aaaggtgaaa taaaaacaga
     1381 aggacaagag ctcataaccg taataaaagc ccccacctcc tttggttatg ataaaccaca
     1441 tgtgctagtg gatctacttg tggatgatag cggtaaagag tccttgattg gttatagacc
     1501 aacagaagat tccaaagaat tttcatgaga tcagctaagt tgcaccaact ttgaagtctg
     1561 attttcctgg acagttttct gctttaattt catgaaaaga ttatgatctc agaaattgta
     1621 tcttagttgg tatcaaccaa atggagtgac ttagtgtaca tgaaagcgta aagaggatgt
     1681 gtggcatttt cacttttggc ttgtaaagta cagacttttt ttttttttta aacaaaaaaa
     1741 gcattgtaac ttatgaacct ttacatccag ataggttacc agtaacggaa cagtatccag
     1801 tactcctggt tcctaggtga gcaggtgatg ccccagggac ctttgtagcc acttcacttt
     1861 ttttcttttc tctgccttgg tatagcatat gtttttgtaa gtttatgcat acagtaattt
     1921 taagtaattt cagaagaaat tctgcaagct tttcaaaatt ggacttaaaa tctaattcaa
     1981 actaatagaa ttaatggaat atgtaaatag aaacgtgtat attttttatg aaacattaca
     2041 gttagagatt tttaaataaa gaattttaaa actc
//
