LOCUS       NM_000163               4899 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens growth hormone receptor (GHR), transcript variant 1,
            mRNA.
ACCESSION   NM_000163
VERSION     NM_000163.5
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 4899)
  AUTHORS   Falah,G., Sharvit,L. and Atzmon,G.
  TITLE     CRISPR-Cas9 mediated d3GHR knockout in HEK293 cells: Revealing the
            longevity associated isoform stress resilience
  JOURNAL   Exp Gerontol 196, 112586 (2024)
   PUBMED   39303817
  REMARK    GeneRIF: CRISPR-Cas9 mediated d3GHR knockout in HEK293 cells:
            Revealing the longevity associated isoform stress resilience.
REFERENCE   2  (bases 1 to 4899)
  AUTHORS   Unterberger,C.J., McIlwain,S.J., Tsourkas,P.K., Maklakova,V.I.,
            Prince,J.L., Onesti,A., Hu,R., Kopchick,J.J., Swanson,S.M. and
            Marker,P.C.
  TITLE     Conditional gene regulation models demonstrate a pro-proliferative
            role for growth hormone receptor in prostate cancer
  JOURNAL   Prostate 83 (5), 416-429 (2023)
   PUBMED   36562110
  REMARK    GeneRIF: Conditional gene regulation models demonstrate a
            pro-proliferative role for growth hormone receptor in prostate
            cancer.
REFERENCE   3  (bases 1 to 4899)
  AUTHORS   Kempf,E., Landgraf,K., Vogel,T., Spielau,U., Stein,R.,
            Raschpichler,M., Kratzsch,J., Kiess,W., Stanik,J. and Korner,A.
  TITLE     Associations of GHR, IGF-1 and IGFBP-3 expression in adipose tissue
            cells with obesity-related alterations in corresponding circulating
            levels and adipose tissue function in children
  JOURNAL   Adipocyte 11 (1), 630-642 (2022)
   PUBMED   36384443
  REMARK    GeneRIF: Associations of GHR, IGF-1 and IGFBP-3 expression in
            adipose tissue cells with obesity-related alterations in
            corresponding circulating levels and adipose tissue function in
            children.
REFERENCE   4  (bases 1 to 4899)
  AUTHORS   Hua,C. and Yu,D.
  TITLE     Correlation Study between Levels of Gastrin, Serum IGF-1, and GHBP
            and Growth and Development in Children with Short Stature Based on
            Big Data Analysis
  JOURNAL   Dis Markers 2022, 4614099 (2022)
   PUBMED   36061351
  REMARK    GeneRIF: Correlation Study between Levels of Gastrin, Serum IGF-1,
            and GHBP and Growth and Development in Children with Short Stature
            Based on Big Data Analysis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4899)
  AUTHORS   Osganian,S.A., Subudhi,S., Masia,R., Drescher,H.K., Bartsch,L.M.,
            Chicote,M.L., Chung,R.T., Gee,D.W., Witkowski,E.R., Bredella,M.A.,
            Lauer,G.M., Corey,K.E. and Dichtel,L.E.
  TITLE     Expression of IGF-1 receptor and GH receptor in hepatic tissue of
            patients with nonalcoholic fatty liver disease and nonalcoholic
            steatohepatitis
  JOURNAL   Growth Horm IGF Res 65, 101482 (2022)
   PUBMED   35780715
  REMARK    GeneRIF: Expression of IGF-1 receptor and GH receptor in hepatic
            tissue of patients with nonalcoholic fatty liver disease and
            nonalcoholic steatohepatitis.
REFERENCE   6  (bases 1 to 4899)
  AUTHORS   Pekhletsky,R.I., Chernov,B.K. and Rubtsov,P.M.
  TITLE     Variants of the 5'-untranslated sequence of human growth hormone
            receptor mRNA
  JOURNAL   Mol Cell Endocrinol 90 (1), 103-109 (1992)
   PUBMED   1301391
REFERENCE   7  (bases 1 to 4899)
  AUTHORS   Urbanek,M., MacLeod,J.N., Cooke,N.E. and Liebhaber,S.A.
  TITLE     Expression of a human growth hormone (hGH) receptor isoform is
            predicted by tissue-specific alternative splicing of exon 3 of the
            hGH receptor gene transcript
  JOURNAL   Mol Endocrinol 6 (2), 279-287 (1992)
   PUBMED   1569971
REFERENCE   8  (bases 1 to 4899)
  AUTHORS   de Vos,A.M., Ultsch,M. and Kossiakoff,A.A.
  TITLE     Human growth hormone and extracellular domain of its receptor:
            crystal structure of the complex
  JOURNAL   Science 255 (5042), 306-312 (1992)
   PUBMED   1549776
REFERENCE   9  (bases 1 to 4899)
  AUTHORS   Berg,M.A., Guevara-Aguirre,J., Rosenbloom,A.L., Rosenfeld,R.G. and
            Francke,U.
  TITLE     Mutation creating a new splice site in the growth hormone receptor
            genes of 37 Ecuadorean patients with Laron syndrome
  JOURNAL   Hum Mutat 1 (1), 24-32 (1992)
   PUBMED   1284474
REFERENCE   10 (bases 1 to 4899)
  AUTHORS   Baumann,G., Davila,N., Shaw,M.A., Ray,J., Liebhaber,S.A. and
            Cooke,N.E.
  TITLE     Binding of human growth hormone (GH)-variant (placental GH) to
            GH-binding proteins in human plasma
  JOURNAL   J Clin Endocrinol Metab 73 (6), 1175-1179 (1991)
   PUBMED   1955498
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC116343.2, Z11801.1, X06562.1
            and AC113368.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000163.4.
            
            Summary: This gene encodes a member of the type I cytokine receptor
            family, which is a transmembrane receptor for growth hormone.
            Binding of growth hormone to the receptor leads to receptor
            dimerization and the activation of an intra- and intercellular
            signal transduction pathway leading to growth. Mutations in this
            gene have been associated with Laron syndrome, also known as the
            growth hormone insensitivity syndrome (GHIS), a disorder
            characterized by short stature. In humans and rabbits, but not
            rodents, growth hormone binding protein (GHBP) is generated by
            proteolytic cleavage of the extracellular ligand-binding domain
            from the mature growth hormone receptor protein. Multiple
            alternatively spliced transcript variants have been found for this
            gene.[provided by RefSeq, Jun 2011].
            
            Transcript Variant: This variant (1, also known as V2) and variants
            3 through 9 encode the predominant protein (isoform 1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: X06562.1, DRR138522.962219.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000230882.9/ ENSP00000230882.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-481               AC116343.2         140800-141280
            482-531             Z11801.1           96-145
            532-2963            X06562.1           47-2478
            2964-4899           AC113368.3         86651-88586
FEATURES             Location/Qualifiers
     source          1..4899
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1-p12"
     gene            1..4899
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="growth hormone receptor"
                     /db_xref="GeneID:2690"
                     /db_xref="HGNC:HGNC:4263"
                     /db_xref="MIM:600946"
     exon            1..517
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            518..598
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /inference="alignment:Splign:2.1.0"
     CDS             529..2445
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; growth hormone binding protein; somatotropin
                     receptor; serum binding protein; GH receptor; mutant
                     growth hormone receptor"
                     /codon_start=1
                     /product="growth hormone receptor isoform 1 precursor"
                     /protein_id="NP_000154.1"
                     /db_xref="CCDS:CCDS3940.1"
                     /db_xref="GeneID:2690"
                     /db_xref="HGNC:HGNC:4263"
                     /db_xref="MIM:600946"
                     /translation="MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLK
                     TNSSKEPKFTKCRSPERETFSCHWTDEVHHGTKNLGPIQLFYTRRNTQEWTQEWKECP
                     DYVSAGENSCYFNSSFTSIWIPYCIKLTSNGGTVDEKCFSVDEIVQPDPPIALNWTLL
                     NVSLTGIHADIQVRWEAPRNADIQKGWMVLEYELQYKEVNETKWKMMDPILTTSVPVY
                     SLKVDKEYEVRVRSKQRNSGNYGEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIF
                     GLTVMLFVFLFSKQQRIKMLILPPVPVPKIKGIDPDLLKEGKLEEVNTILAIHDSYKP
                     EFHSDDSWVEFIELDIDEPDEKTEESDTDRLLSSDHEKSHSNLGVKDGDSGRTSCCEP
                     DILETDFNANDIHEGTSEVAQPQRLKGEADLLCLDQKNQNNSPYHDACPATQQPSVIQ
                     AEKNKPQPLPTEGAESTHQAAHIQLSNPSSLSNIDFYAQVSDITPAGSVVLSPGQKNK
                     AGMSQCDMHPEMVSLCQENFLMDNAYFCEADAKKCIPVAPHIKVESHIQPSLNQEDIY
                     ITTESLTTAAGRPGTGEHVPGSEMPVPDYTSIHIVQSPQGLILNATALPLPDKEFLSS
                     CGYVSTDQLNKIMP"
     exon            599..664
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            665..794
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            795..967
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1146
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1312
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1403
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1473
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..4899
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4826..4831
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="hexamer: AATAAA"
     polyA_site      4845
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="major polyA site"
     regulatory      4880..4885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="hexamer: CATAAA"
     polyA_site      4899
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
ORIGIN      
        1 agttgagagt gacacgcacc aactccagct cctcgccggg aagacttcat cccagcaact
       61 cggaatgctt ggcccgggcg gcactcggcc tctccgcagc agttctcgaa ctggcctcct
      121 tgaacgtccg cttcgccttc gcttctgcaa cctggatctg ggggactgcg ggccaggcgc
      181 ggcgtgaccc ctggtgaacg gtggccgcct tttcccaccc ctgccctccc atcctccctt
      241 cccgtttcac cccgccccct ctctcctccc caagcctgac agcccgcgag ctgccaagca
      301 gggcgcagcc atgggaagag gaggagggct agggagcggc ggcggcggcg gcagcggcag
      361 cagcagctgc tacagtggcg gtggcggcgg cggctgctgc tgagcccggg cggcggcggg
      421 gaccccgggc tggggccacg cgggccggag gccccggcac cattggcccc agcgcagacg
      481 cgaacccgcg ctctctgatc agaggcgaag ctcggaggtc ctacaggtat ggatctctgg
      541 cagctgctgt tgaccttggc actggcagga tcaagtgatg ctttttctgg aagtgaggcc
      601 acagcagcta tccttagcag agcaccctgg agtctgcaaa gtgttaatcc aggcctaaag
      661 acaaattctt ctaaggagcc taaattcacc aagtgccgtt cacctgagcg agagactttt
      721 tcatgccact ggacagatga ggttcatcat ggtacaaaga acctaggacc catacagctg
      781 ttctatacca gaaggaacac tcaagaatgg actcaagaat ggaaagaatg ccctgattat
      841 gtttctgctg gggaaaacag ctgttacttt aattcatcgt ttacctccat ctggatacct
      901 tattgtatca agctaactag caatggtggt acagtggatg aaaagtgttt ctctgttgat
      961 gaaatagtgc aaccagatcc acccattgcc ctcaactgga ctttactgaa cgtcagttta
     1021 actgggattc atgcagatat ccaagtgaga tgggaagcac cacgcaatgc agatattcag
     1081 aaaggatgga tggttctgga gtatgaactt caatacaaag aagtaaatga aactaaatgg
     1141 aaaatgatgg accctatatt gacaacatca gttccagtgt actcattgaa agtggataag
     1201 gaatatgaag tgcgtgtgag atccaaacaa cgaaactctg gaaattatgg cgagttcagt
     1261 gaggtgctct atgtaacact tcctcagatg agccaattta catgtgaaga agatttctac
     1321 tttccatggc tcttaattat tatctttgga atatttgggc taacagtgat gctatttgta
     1381 ttcttatttt ctaaacagca aaggattaaa atgctgattc tgcccccagt tccagttcca
     1441 aagattaaag gaatcgatcc agatctcctc aaggaaggaa aattagagga ggtgaacaca
     1501 atcttagcca ttcatgatag ctataaaccc gaattccaca gtgatgactc ttgggttgaa
     1561 tttattgagc tagatattga tgagccagat gaaaagactg aggaatcaga cacagacaga
     1621 cttctaagca gtgaccatga gaaatcacat agtaacctag gggtgaagga tggcgactct
     1681 ggacgtacca gctgttgtga acctgacatt ctggagactg atttcaatgc caatgacata
     1741 catgagggta cctcagaggt tgctcagcca cagaggttaa aaggggaagc agatctctta
     1801 tgccttgacc agaagaatca aaataactca ccttatcatg atgcttgccc tgctactcag
     1861 cagcccagtg ttatccaagc agagaaaaac aaaccacaac cacttcctac tgaaggagct
     1921 gagtcaactc accaagctgc ccatattcag ctaagcaatc caagttcact gtcaaacatc
     1981 gacttttatg cccaggtgag cgacattaca ccagcaggta gtgtggtcct ttccccgggc
     2041 caaaagaata aggcagggat gtcccaatgt gacatgcacc cggaaatggt ctcactctgc
     2101 caagaaaact tccttatgga caatgcctac ttctgtgagg cagatgccaa aaagtgcatc
     2161 cctgtggctc ctcacatcaa ggttgaatca cacatacagc caagcttaaa ccaagaggac
     2221 atttacatca ccacagaaag ccttaccact gctgctggga ggcctgggac aggagaacat
     2281 gttccaggtt ctgagatgcc tgtcccagac tatacctcca ttcatatagt acagtcccca
     2341 cagggcctca tactcaatgc gactgccttg cccttgcctg acaaagagtt tctctcatca
     2401 tgtggctatg tgagcacaga ccaactgaac aaaatcatgc cttagccttt ctttggtttc
     2461 ccaagagcta cgtatttaat agcaaagaat tgactggggc aataacgttt aagccaaaac
     2521 aatgtttaaa ccttttttgg gggagtgaca ggatggggta tggattctaa aatgcctttt
     2581 cccaaaatgt tgaaatatga tgttaaaaaa ataagaagaa tgcttaatca gatagatatt
     2641 cctattgtgc aatgtaaata ttttaaagaa ttgtgtcaga ctgtttagta gcagtgattg
     2701 tcttaatatt gtgggtgtta atttttgata ctaagcattg aatggctatg tttttaatgt
     2761 atagtaaatc acgctttttg aaaaagcgaa aaaatcaggt ggcttttgcg gttcaggaaa
     2821 attgaatgca aaccatagca caggctaatt ttttgttgtt tcttaaataa gaaacttttt
     2881 tatttaaaaa actaaaaact agaggtgaga aatttaaact ataagcaaga aggcaaaaat
     2941 agtttggata tgtaaaacat ttattttgac ataaagttga taaagatttt ttaataattt
     3001 agacttcaag catggctatt ttatattaca ctacacactg tgtactgcag ttggtatgac
     3061 ccctctaagg agtgtagcaa ctacagtcta aagctggttt aatgttttgg ccaatgcacc
     3121 taaagaaaaa caaactcgtt ttttacaaag cccttttata cctccccaga ctccttcaac
     3181 aattctaaaa tgattgtagt aatctgcatt attggaatat aattgtttta tctgaatttt
     3241 taaacaagta tttgttaatt tagaaaactt taaagcgttt gcacagatca acttaccagg
     3301 caccaaaaga agtaaaagca aaaaagaaaa cctttcttca ccaaatcttg gttgatgcca
     3361 aaaaaaaata catgctaaga gaagtagaaa tcatagctgg ttcacactga ccaagatact
     3421 taagtgctgc aattgcacgc ggagtgagtt ttttagtgcg tgcagatggt gagagataag
     3481 atctatagcc tctgcagcgg aatctgttca cacccaactt ggttttgcta cataattatc
     3541 caggaaggga ataaggtaca agaagcattt tgtaagttga agcaaatcga atgaaattaa
     3601 ctgggtaatg aaacaaagag ttcaagaaat aagtttttgt ttcacagcct ataaccagac
     3661 acatactcat ttttcatgat aatgaacaga acatagacag aagaaacaag gttttcagtc
     3721 cccacagata actgaaaatt atttaaaccg ctaaaagaaa ctttctttct cactaaatct
     3781 tttataggat ttatttaaaa tagcaaaaga agaagtttca tcatttttta cttcctctct
     3841 gagtggactg gcctcaaagc aagcattcag aagaaaaaga agcaacctca gtaatttaga
     3901 aatcattttg caatccctta atatcctaaa catcattcat ttttgttgtt gttgttgttg
     3961 ttgagacaga gtctcgctct gtcgccaggc tagagtgcgg tggcgcgatc ttgactcact
     4021 gcaatctcca cctcccacag gttcaggcga ttcccgtgcc tcagcctcct gagtagctgg
     4081 gactacaggc acgcaccacc atgccaggct aatttttttg tattttagca gagacggggt
     4141 ttcaccatgt tggccaggat ggtctcgatc tcctgacctc gtgatccacc cgactcggcc
     4201 tcccaaagtg ctgggattac aggtgtaagc caccgtgccc agccctaaac atcattcttg
     4261 agagcattgg gatatctcct gaaaaggttt atgaaaaaga agaatctcat ctcagtgaag
     4321 aatacttctc attttttaaa aaagcttaaa actttgaagt tagctttaac ttaaatagta
     4381 tttcccattt atcgcagacc ttttttagga agcaagctta atggctgata attttaaatt
     4441 ctctctcttg caggaaggac tatgaaaagc tagaattgag tgtttaaagt tcaacatgtt
     4501 atttgtaata gatgtttgat agattttctg ctactttgct gctatggttt tctccaagag
     4561 ctacataatt tagtttcata taaagtatca tcagtgtaga acctaattca attcaaagct
     4621 gtgtgtttgg aagactatct tactatttca caacagcctg acaacatttc tatagccaaa
     4681 aatagctaaa tacctcaatc agtctcagaa tgtcattttg gtactttggt ggccacataa
     4741 gccattattc actagtatga ctagttgtgt ctggcagttt atatttaact ctctttatgt
     4801 ctgtggattt tttccttcaa agtttaataa atttattttc ttggattcct gatagtgtgc
     4861 ttctgttatc aaacaccaac ataaaaatga tctaaacca
//
