LOCUS       NM_198965               1578 bp    mRNA    linear   PRI 28-AUG-2024
DEFINITION  Homo sapiens parathyroid hormone like hormone (PTHLH), transcript
            variant 1, mRNA.
ACCESSION   NM_198965 XM_011520775
VERSION     NM_198965.2
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 1578)
  AUTHORS   Xie,S., Jin,L., Fu,J., Yuan,Q., Yin,T., Ren,J. and Liu,W.
  TITLE     PTHrP participates in the bone destruction of middle ear
            cholesteatoma via promoting macrophage differentiation into
            osteoclasts induced by RANKL
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 49 (5), 655-666 (2024)
   PUBMED   39174879
  REMARK    GeneRIF: PTHrP participates in the bone destruction of middle ear
            cholesteatoma via promoting macrophage differentiation into
            osteoclasts induced by RANKL.
REFERENCE   2  (bases 1 to 1578)
  AUTHORS   Lozano,D., Gortazar,A.R. and Portal-Nunez,S.
  TITLE     Osteostatin, a peptide for the future treatment of musculoskeletal
            diseases
  JOURNAL   Biochem Pharmacol 223, 116177 (2024)
   PUBMED   38552853
  REMARK    GeneRIF: Osteostatin, a peptide for the future treatment of
            musculoskeletal diseases.
            Review article
REFERENCE   3  (bases 1 to 1578)
  AUTHORS   Sun,J., Yang,N., Xu,Z., Cheng,H. and Zhang,X.
  TITLE     A novel heterozygous mutation in PTHLH causing autosomal dominant
            brachydactyly type E complicated with short stature
  JOURNAL   Mol Genet Genomic Med 12 (2), e2393 (2024)
   PUBMED   38407575
  REMARK    GeneRIF: A novel heterozygous mutation in PTHLH causing autosomal
            dominant brachydactyly type E complicated with short stature.
REFERENCE   4  (bases 1 to 1578)
  AUTHORS   Srisuwarn,P. and Disthabanchong,S.
  TITLE     Role of Parathyroid Hormone and Parathyroid Hormone-Related Protein
            in Protein-Energy Malnutrition
  JOURNAL   Front Biosci (Landmark Ed) 28 (8), 167 (2023)
   PUBMED   37664938
  REMARK    GeneRIF: Role of Parathyroid Hormone and Parathyroid
            Hormone-Related Protein in Protein-Energy Malnutrition.
            Review article
REFERENCE   5  (bases 1 to 1578)
  AUTHORS   Nguyen,M., He,B. and Karaplis,A.
  TITLE     Nuclear forms of parathyroid hormone-related peptide are translated
            from non-AUG start sites downstream from the initiator methionine
  JOURNAL   Endocrinology 142 (2), 694-703 (2001)
   PUBMED   11159841
  REMARK    GeneRIF: Alternative, in-frame translation initiation from non-AUG
            (CUG and GUG) start sites, downstream of the initiator AUG, give
            rise to nuclear forms of parathyroid hormone-related protein.
REFERENCE   6  (bases 1 to 1578)
  AUTHORS   Amizuka,N., Fukushi-Irie,M., Sasaki,T., Oda,K. and Ozawa,H.
  TITLE     Inefficient function of the signal sequence of PTHrP for targeting
            into the secretory pathway
  JOURNAL   Biochem Biophys Res Commun 273 (2), 621-629 (2000)
   PUBMED   10873655
  REMARK    GeneRIF: Translation initiation from non-AUG (CUG) start sites in
            the signal sequence, downstream of the initiator AUG codon, target
            PTHrP molecules exclusively to the nucleoli.
REFERENCE   7  (bases 1 to 1578)
  AUTHORS   Fenton,A.J., Kemp,B.E., Hammonds,R.G. Jr., Mitchelhill,K.,
            Moseley,J.M., Martin,T.J. and Nicholson,G.C.
  TITLE     A potent inhibitor of osteoclastic bone resorption within a highly
            conserved pentapeptide region of parathyroid hormone-related
            protein; PTHrP[107-111]
  JOURNAL   Endocrinology 129 (6), 3424-3426 (1991)
   PUBMED   1954916
REFERENCE   8  (bases 1 to 1578)
  AUTHORS   Fenton,A.J., Kemp,B.E., Kent,G.N., Moseley,J.M., Zheng,M.H.,
            Rowe,D.J., Britto,J.M., Martin,T.J. and Nicholson,G.C.
  TITLE     A carboxyl-terminal peptide from the parathyroid hormone-related
            protein inhibits bone resorption by osteoclasts
  JOURNAL   Endocrinology 129 (4), 1762-1768 (1991)
   PUBMED   1915066
REFERENCE   9  (bases 1 to 1578)
  AUTHORS   Moniz,C., Burton,P.B., Malik,A.N., Dixit,M., Banga,J.P.,
            Nicolaides,K., Quirke,P., Knight,D.E. and McGregor,A.M.
  TITLE     Parathyroid hormone-related peptide in normal human fetal
            development
  JOURNAL   J Mol Endocrinol 5 (3), 259-266 (1990)
   PUBMED   2288637
REFERENCE   10 (bases 1 to 1578)
  AUTHORS   Chou,C.H., Fritz,R.B., Chou,F.C. and Kibler,R.F.
  TITLE     The immune response of Lewis rats to peptide 68-88 of guinea pig
            myelin basic protein. I. T cell determinants
  JOURNAL   J Immunol 123 (4), 1540-1543 (1979)
   PUBMED   90087
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008011.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Apr 17, 2019 this sequence version replaced
            XM_011520775.2, NM_198965.1.
            
            Summary: The protein encoded by this gene is a member of the
            parathyroid hormone family. This hormone, via its receptor, PTHR1,
            regulates endochondral bone development and epithelial-mesenchymal
            interactions during the formation of the mammary glands and teeth.
            It is responsible for most cases of humoral hypercalcemia of
            malignancy, and mutations in this gene are associated with
            brachydactyly type E2 (BDE2). Alternatively spliced transcript
            variants have been found for this gene. There is also evidence for
            alternative translation initiation from non-AUG (CUG and GUG) start
            sites, downstream of the initiator AUG codon, resulting in nuclear
            forms of this hormone. [provided by RefSeq, Nov 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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##
            CDS exon combination :: BI752853.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2147975, SAMEA2153427 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000545234.6/ ENSP00000441765.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-211               AC008011.11        23301-23511
            212-304             AC008011.11        24015-24107
            305-547             AC008011.11        25767-26009
            548-670             AC008011.11        26518-26640
            671-1093            AC008011.11        32264-32686
            1094-1578           AC008011.11        37466-37950
FEATURES             Location/Qualifiers
     source          1..1578
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.22"
     gene            1..1578
                     /gene="PTHLH"
                     /gene_synonym="BDE2; HHM; PLP; PTHR; PTHRP"
                     /note="parathyroid hormone like hormone"
                     /db_xref="GeneID:5744"
                     /db_xref="HGNC:HGNC:9607"
                     /db_xref="MIM:168470"
     exon            1..211
                     /gene="PTHLH"
                     /gene_synonym="BDE2; HHM; PLP; PTHR; PTHRP"
                     /inference="alignment:Splign:2.1.0"
     exon            212..304
                     /gene="PTHLH"
                     /gene_synonym="BDE2; HHM; PLP; PTHR; PTHRP"
                     /inference="alignment:Splign:2.1.0"
     exon            305..547
                     /gene="PTHLH"
                     /gene_synonym="BDE2; HHM; PLP; PTHR; PTHRP"
                     /inference="alignment:Splign:2.1.0"
     exon            548..670
                     /gene="PTHLH"
                     /gene_synonym="BDE2; HHM; PLP; PTHR; PTHRP"
                     /inference="alignment:Splign:2.1.0"
     CDS             570..1103
                     /gene="PTHLH"
                     /gene_synonym="BDE2; HHM; PLP; PTHR; PTHRP"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; PTH-related protein; parathyroid hormone-like
                     hormone preproprotein; osteostatin; parathyroid
                     hormone-like related protein; PTH-rP"
                     /codon_start=1
                     /product="parathyroid hormone-related protein isoform 1
                     preproprotein"
                     /protein_id="NP_945316.1"
                     /db_xref="CCDS:CCDS44853.1"
                     /db_xref="GeneID:5744"
                     /db_xref="HGNC:HGNC:9607"
                     /db_xref="MIM:168470"
                     /translation="MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLL
                     HDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGR
                     YLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLDSGVTGSGLEGD
                     HLSDTSTTSLELDSRRH"
     exon            671..1093
                     /gene="PTHLH"
                     /gene_synonym="BDE2; HHM; PLP; PTHR; PTHRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1578
                     /gene="PTHLH"
                     /gene_synonym="BDE2; HHM; PLP; PTHR; PTHRP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1551..1556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTHLH"
                     /gene_synonym="BDE2; HHM; PLP; PTHR; PTHRP"
                     /note="hexamer: AATAAA"
     polyA_site      1578
                     /gene="PTHLH"
                     /gene_synonym="BDE2; HHM; PLP; PTHR; PTHRP"
                     /note="major polyA site"
ORIGIN      
        1 aataaacagg gcagcttgga agaggtacct gctttctaat aattgccttt agtgggaaca
       61 gaagtctcct ttcaagaagc ttttaattca ttttaagatt taattttatg ttttctgaag
      121 aacaacaaaa aatatttctg gaaaagactg ctgagaagat ttccctcttt cagccagaag
      181 agcagagaga agattgtaaa tcaaggaaaa gatttccccc ttcagatcta acgattacat
      241 tagggctcct gcatcttttt ggaaggattc tttttataaa tcagaaagtg ttcgaggttc
      301 aaaggtttgc ctcggagcgt gtgaacattc ctccgctcgg ttttcaactc gcctccaacc
      361 tgcgccgccc ggccagcatg tctccccgcc cgtgaagcgg ggctgccgcc tccctgccgc
      421 tccggctgcc actaacgacc cgccctcgcc gccacctggc cctcctgatc gacgacacac
      481 gcacttgaaa cttgttctca gggtgtgtgg aatcaacttt ccggaagcaa ccagcccacc
      541 agaggaggtc ccgagcgcga gcggagacga tgcagcggag actggttcag cagtggagcg
      601 tcgcggtgtt cctgctgagc tacgcggtgc cctcctgcgg gcgctcggtg gagggtctca
      661 gccgccgcct caaaagagct gtgtctgaac atcagctcct ccatgacaag gggaagtcca
      721 tccaagattt acggcgacga ttcttccttc accatctgat cgcagaaatc cacacagctg
      781 aaatcagagc tacctcggag gtgtccccta actccaagcc ctctcccaac acaaagaacc
      841 accccgtccg atttgggtct gatgatgagg gcagatacct aactcaggaa actaacaagg
      901 tggagacgta caaagagcag ccgctcaaga cacctgggaa gaaaaagaaa ggcaagcccg
      961 ggaaacgcaa ggagcaggaa aagaaaaaac ggcgaactcg ctctgcctgg ttagactctg
     1021 gagtgactgg gagtgggcta gaaggggacc acctgtctga cacctccaca acgtcgctgg
     1081 agctcgattc acggaggcat tgaaattttc agcagagacc ttccaaggac atattgcagg
     1141 attctgtaat agtgaacata tggaaagtat tagaaatatt tattgtctgt aaatactgta
     1201 aatgcattgg aataaaactg tctcccccat tgctctatga aactgcacat tggtcattgt
     1261 gaatattttt tttttgccaa ggctaatcca attattatta tcacatttac cataatttat
     1321 tttgtccatt gatgtattta ttttgtaaat gtatcttggt gctgctgaat ttctatattt
     1381 tttgtaacat aatgcacttt agatatacat atcaagtatg ttgataaatg acacaatgaa
     1441 gtgtctctat tttgtggttg attttaatga atgcctaaat ataattatcc aaattgattt
     1501 tcctttgtgc atgtaaaaat aacagtattt taaatttgta aagaatgtct aataaaatat
     1561 aatctaatta catcatga
//
