LOCUS       NM_000823               1672 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens growth hormone releasing hormone receptor (GHRHR),
            mRNA.
ACCESSION   NM_000823
VERSION     NM_000823.4
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 1672)
  AUTHORS   Kirkgoz,T., Gursoy,S., Acar,S., Nalbantoglu,O., Ozkaya,B., Anil
            Korkmaz,H., Hazan,F. and Ozkan,B.
  TITLE     Genetic diagnosis of congenital hypopituitarism in Turkish patients
            by a target gene panel: novel pathogenic variants in GHRHR, GLI2,
            LHX4 and POU1F1 genes
  JOURNAL   Arch Endocrinol Metab 68, e220254 (2023)
   PUBMED   37948564
  REMARK    GeneRIF: Genetic diagnosis of congenital hypopituitarism in Turkish
            patients by a target gene panel: novel pathogenic variants in
            GHRHR, GLI2, LHX4 and POU1F1 genes.
REFERENCE   2  (bases 1 to 1672)
  AUTHORS   Kiaris,H., Schally,A.V., Busto,R., Halmos,G., Artavanis-Tsakonas,S.
            and Varga,J.L.
  TITLE     Expression of a splice variant of the receptor for GHRH in 3T3
            fibroblasts activates cell proliferation responses to GHRH analogs
  JOURNAL   Proc Natl Acad Sci U S A 99 (1), 196-200 (2002)
   PUBMED   11773624
  REMARK    GeneRIF: To ascertain whether (splice variant) SV1 mediates
            mitogenic effects on nonpituitary tissues, we expressed SV1 in 3T3
            mouse fibroblasts and studied the properties of the transfected
            cells
REFERENCE   3  (bases 1 to 1672)
  AUTHORS   Rekasi,Z., Czompoly,T., Schally,A.V. and Halmos,G.
  TITLE     Isolation and sequencing of cDNAs for splice variants of growth
            hormone-releasing hormone receptors from human cancers
  JOURNAL   Proc Natl Acad Sci U S A 97 (19), 10561-10566 (2000)
   PUBMED   10962031
REFERENCE   4  (bases 1 to 1672)
  AUTHORS   Maheshwari,H.G., Silverman,B.L., Dupuis,J. and Baumann,G.
  TITLE     Phenotype and genetic analysis of a syndrome caused by an
            inactivating mutation in the growth hormone-releasing hormone
            receptor: Dwarfism of Sindh
  JOURNAL   J Clin Endocrinol Metab 83 (11), 4065-4074 (1998)
   PUBMED   9814493
REFERENCE   5  (bases 1 to 1672)
  AUTHORS   Petersenn,S., Rasch,A.C., Heyens,M. and Schulte,H.M.
  TITLE     Structure and regulation of the human growth hormone-releasing
            hormone receptor gene
  JOURNAL   Mol Endocrinol 12 (2), 233-247 (1998)
   PUBMED   9482665
REFERENCE   6  (bases 1 to 1672)
  AUTHORS   Wajnrajch,M.P., Gertner,J.M., Harbison,M.D., Chua,S.C. Jr. and
            Leibel,R.L.
  TITLE     Nonsense mutation in the human growth hormone-releasing hormone
            receptor causes growth failure analogous to the little (lit) mouse
  JOURNAL   Nat Genet 12 (1), 88-90 (1996)
   PUBMED   8528260
REFERENCE   7  (bases 1 to 1672)
  AUTHORS   Hashimoto,K., Koga,M., Motomura,T., Kasayama,S., Kouhara,H.,
            Ohnishi,T., Arita,N., Hayakawa,T., Sato,B. and Kishimoto,T.
  TITLE     Identification of alternatively spliced messenger ribonucleic acid
            encoding truncated growth hormone-releasing hormone receptor in
            human pituitary adenomas
  JOURNAL   J Clin Endocrinol Metab 80 (10), 2933-2939 (1995)
   PUBMED   7559877
REFERENCE   8  (bases 1 to 1672)
  AUTHORS   Tang,J., Lagace,G., Castagne,J. and Collu,R.
  TITLE     Identification of human growth hormone-releasing hormone receptor
            splicing variants
  JOURNAL   J Clin Endocrinol Metab 80 (8), 2381-2387 (1995)
   PUBMED   7629234
REFERENCE   9  (bases 1 to 1672)
  AUTHORS   Gaylinn,B.D., von Kap-Herr,C., Golden,W.L. and Thorner,M.O.
  TITLE     Assignment of the human growth hormone-releasing hormone receptor
            gene (GHRHR) to 7p14 by in situ hybridization
  JOURNAL   Genomics 19 (1), 193-195 (1994)
   PUBMED   8188233
REFERENCE   10 (bases 1 to 1672)
  AUTHORS   Mayo,K.E.
  TITLE     Molecular cloning and expression of a pituitary-specific receptor
            for growth hormone-releasing hormone
  JOURNAL   Mol Endocrinol 6 (10), 1734-1744 (1992)
   PUBMED   1333056
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005155.1 and L09237.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000823.3.
            
            Summary: This gene encodes a receptor for growth hormone-releasing
            hormone. Binding of this hormone to the receptor leads to synthesis
            and release of growth hormone. Mutations in this gene have been
            associated with isolated growth hormone deficiency (IGHD), also
            known as Dwarfism of Sindh, a disorder characterized by short
            stature. [provided by RefSeq, Jun 2010].
            
            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 :: L09237.1, L01406.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326139.7/ ENSP00000320180.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-68                AC005155.1         50557-50624
            69-1672             L09237.1           1-1604
FEATURES             Location/Qualifiers
     source          1..1672
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..1672
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="growth hormone releasing hormone receptor"
                     /db_xref="GeneID:2692"
                     /db_xref="HGNC:HGNC:4266"
                     /db_xref="MIM:139191"
     exon            1..173
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..1388
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="GRF receptor; GHRH receptor"
                     /codon_start=1
                     /product="growth hormone-releasing hormone receptor
                     precursor"
                     /protein_id="NP_000814.2"
                     /db_xref="CCDS:CCDS5432.1"
                     /db_xref="GeneID:2692"
                     /db_xref="HGNC:HGNC:4266"
                     /db_xref="MIM:139191"
                     /translation="MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQA
                     AEEMPNTTLGCPATWDGLLCWPTAGSGEWVTLPCPDFFSHFSSESGAVKRDCTITGWS
                     EPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCP
                     RNYVHTQLFTTFILKAGAVFLKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFS
                     WLLAEAVYLNCLLASTSPSSRRAFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLD
                     DTSPYWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHTQSQYWRLSKSTLFL
                     IPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWH
                     GHDPELLPAWRTRAKWTTPSRSAAKVLTSMC"
     exon            174..276
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     exon            277..384
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     exon            385..482
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     exon            483..580
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     exon            581..713
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     exon            714..867
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     exon            868..928
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     exon            929..998
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     exon            999..1090
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1220
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..1262
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1263..1672
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1655..1660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="hexamer: AATAAA"
     polyA_site      1672
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="major polyA site"
ORIGIN      
        1 acctgagaag gggaagcaga gggtgcggtg gaaacggctg tgtcagggga cagcagggga
       61 aggaagatag ccaaggctta ctgaggctgg tggagggagc cactgctggg ctcaccatgg
      121 accgccggat gtggggggcc cacgtcttct gcgtgttgag cccgttaccg accgtattgg
      181 gccacatgca cccagaatgt gacttcatca cccagctgag agaggatgag agtgcctgtc
      241 tacaagcagc agaggagatg cccaacacca ccctgggctg ccctgcgacc tgggatgggc
      301 tgctgtgctg gccaacggca ggctctggcg agtgggtcac cctcccctgc ccggatttct
      361 tctctcactt cagctcagag tcaggggctg tgaaacggga ttgtactatc actggctggt
      421 ctgagccctt tccaccttac cctgtggcct gccctgtgcc tctggagctg ctggctgagg
      481 aggaatctta cttctccaca gtgaagatta tctacaccgt gggccatagc atctctattg
      541 tagccctctt cgtggccatc accatcctgg ttgctctcag gaggctccac tgcccccgga
      601 actacgtcca cacccagctg ttcaccactt ttatcctcaa ggcgggagct gtgttcctga
      661 aggatgctgc ccttttccac agcgacgaca ctgaccactg cagcttctcc actgttctat
      721 gcaaggtctc tgtggccgcc tcccatttcg ccaccatgac caacttcagc tggctgttgg
      781 cagaagccgt ctacctgaac tgcctcctgg cctccacctc ccccagctca aggagagcct
      841 tctggtggct ggttctcgct ggctgggggc tgcccgtgct cttcactggc acgtgggtga
      901 gctgcaaact ggccttcgag gacatcgcgt gctgggacct ggacgacacc tccccctact
      961 ggtggatcat caaagggccc attgtcctct cggtcggggt gaactttggg ctttttctca
     1021 atattatccg catcctggtg aggaaactgg agccagctca gggcagcctc catacccagt
     1081 ctcagtattg gcgtctctcc aagtcgacac ttttcctgat cccactcttt ggaattcact
     1141 acatcatctt caacttcctg ccagacaatg ctggcctggg catccgcctc cccctggagc
     1201 tgggactggg ttccttccag ggcttcattg ttgccatcct ctactgcttc ctcaaccaag
     1261 aggtgaggac tgagatctca cggaagtggc atggccatga ccctgagctt ctgccagcct
     1321 ggaggacccg tgctaagtgg accacgcctt cccgctcggc ggcaaaggtg ctgacatcta
     1381 tgtgctaggc tgcctcatca cgccactgga gtccacactt gaatttgggc agctaccacg
     1441 ggtctgccat gctctggagg agcaaggggg ccacatcccc accccagctg ttacccagcc
     1501 cggggcaggt gcagcccttc ctccctgtct ctgcatctga ctctcttttg aggtccctgt
     1561 atgtctacct ctgacttctg tggtccctct gtgtctgctc tcatccattc ctcttactgg
     1621 ggcctggggc tctagcccaa ggctcagagg agccaataaa cctgtaaatg aa
//
