LOCUS       NM_000315                791 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens parathyroid hormone (PTH), transcript variant 1, mRNA.
ACCESSION   NM_000315
VERSION     NM_000315.4
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 791)
  AUTHORS   di Filippo,L., Bilezikian,J.P., Canalis,E., Terenzi,U. and
            Giustina,A.
  TITLE     New insights into the vitamin D/PTH axis in endocrine-driven
            metabolic bone diseases
  JOURNAL   Endocrine 85 (3), 1007-1019 (2024)
   PUBMED   38632163
  REMARK    GeneRIF: New insights into the vitamin D/PTH axis in
            endocrine-driven metabolic bone diseases.
            Review article
REFERENCE   2  (bases 1 to 791)
  AUTHORS   Murat,K., Oguzhan,Y., Hakan,G., Ufuk,O. and Birhan,Y.M.
  TITLE     The Relationship Between Atrial Fibrillation and Parathyroid
            Hormone in Heart Failure Outpatients
  JOURNAL   Kardiologiia 63 (9), 51-55 (2023)
   PUBMED   37815140
  REMARK    GeneRIF: The Relationship Between Atrial Fibrillation and
            Parathyroid Hormone in Heart Failure Outpatients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 791)
  AUTHORS   Liu,L., Qian,L., Li,P., Li,J., Huang,S., Yi,W., Liu,S. and Wu,W.
  TITLE     [MiR-301a-5p modulates parathyroid hormone secretion in secondary
            hyperparathyroidism possibly by regulating calcium-sensing
            receptor]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 43 (8), 1363-1370 (2023)
   PUBMED   37712273
  REMARK    GeneRIF: [MiR-301a-5p modulates parathyroid hormone secretion in
            secondary hyperparathyroidism possibly by regulating
            calcium-sensing receptor].
REFERENCE   4  (bases 1 to 791)
  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 791)
  AUTHORS   Cheloha,R.W., Gellman,S.H., Vilardaga,J.P. and Gardella,T.J.
  TITLE     PTH receptor-1 signalling-mechanistic insights and therapeutic
            prospects
  JOURNAL   Nat Rev Endocrinol 11 (12), 712-724 (2015)
   PUBMED   26303600
  REMARK    Review article
REFERENCE   6  (bases 1 to 791)
  AUTHORS   Handt,O., Reis,A. and Schmidtke,J.
  TITLE     Ectopic transcription of the parathyroid hormone gene in
            lymphocytes, lymphoblastoid cells and tumour tissue
  JOURNAL   J Endocrinol 135 (2), 249-256 (1992)
   PUBMED   1474331
REFERENCE   7  (bases 1 to 791)
  AUTHORS   Parkinson,D.B. and Thakker,R.V.
  TITLE     A donor splice site mutation in the parathyroid hormone gene is
            associated with autosomal recessive hypoparathyroidism
  JOURNAL   Nat Genet 1 (2), 149-152 (1992)
   PUBMED   1302009
REFERENCE   8  (bases 1 to 791)
  AUTHORS   Vasicek,T.J., McDevitt,B.E., Freeman,M.W., Fennick,B.J.,
            Hendy,G.N., Potts,J.T. Jr., Rich,A. and Kronenberg,H.M.
  TITLE     Nucleotide sequence of the human parathyroid hormone gene
  JOURNAL   Proc Natl Acad Sci U S A 80 (8), 2127-2131 (1983)
   PUBMED   6220408
REFERENCE   9  (bases 1 to 791)
  AUTHORS   Keutmann,H.T., Sauer,M.M., Hendy,G.N., O'Riordan,L.H. and
            Potts,J.T. Jr.
  TITLE     Complete amino acid sequence of human parathyroid hormone
  JOURNAL   Biochemistry 17 (26), 5723-5729 (1978)
   PUBMED   728431
REFERENCE   10 (bases 1 to 791)
  AUTHORS   Keutmann,H.T., Niall,H.D., O'Riordan,J.L. and Potts,J.T. Jr.
  TITLE     A reinvestigation of the amino-terminal sequence of human
            parathyroid hormone
  JOURNAL   Biochemistry 14 (9), 1842-1847 (1975)
   PUBMED   1125201
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX106232.1 and AA889450.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000315.3.
            
            Summary: This gene encodes a member of the parathyroid family of
            proteins. The encoded preproprotein is proteolytically processed to
            generate a protein that binds to the parathyroid
            hormone/parathyroid hormone-related peptide receptor and regulates
            blood calcium and phosphate levels. Excess production of the
            encoded protein, known as hyperparathyroidism, can result in
            hypercalcemia and kidney stones. On the other hand, defective
            processing of the encoded protein may lead to hypoparathyroidism,
            which can result in hypocalcemia and numbness. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Oct
            2015].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the shorter 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 :: BX103059.1, ERR279834.9165.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153347, SAMEA2153733
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000282091.6/ ENSP00000282091.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-631               BX106232.1         24-654
            632-791             AA889450.1         6-165               c
FEATURES             Location/Qualifiers
     source          1..791
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.3"
     gene            1..791
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /note="parathyroid hormone"
                     /db_xref="GeneID:5741"
                     /db_xref="HGNC:HGNC:9606"
                     /db_xref="MIM:168450"
     exon            1..87
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /inference="alignment:Splign:2.1.0"
     exon            88..178
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..440
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; parathyroid hormone 1; parathyrin;
                     parathormone; prepro-PTH; preproparathyroid hormone"
                     /codon_start=1
                     /product="parathyroid hormone isoform 1 preproprotein"
                     /protein_id="NP_000306.1"
                     /db_xref="CCDS:CCDS7812.1"
                     /db_xref="GeneID:5741"
                     /db_xref="HGNC:HGNC:9606"
                     /db_xref="MIM:168450"
                     /translation="MIPAKDMAKVMIVMLAICFLTKSDGKSVKKRSVSEIQLMHNLGK
                     HLNSMERVEWLRKKLQDVHNFVALGAPLAPRDAGSQRPRKKEDNVLVESHEKSLGEAD
                     KADVNVLTKAKSQ"
     exon            179..791
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      768..773
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /note="hexamer: AATAAA"
     regulatory      772..777
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /note="hexamer: AATGAA"
     polyA_site      787
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
     polyA_site      791
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /note="major polyA site"
ORIGIN      
        1 gcagtccaat tcatcagttg tctttagttt actcagcatc agctactaac atacctgaac
       61 gaagatcttg ttctaagaca ttgtatgtga agatgatacc tgcaaaagac atggctaaag
      121 ttatgattgt catgttggca atttgttttc ttacaaaatc ggatgggaaa tctgttaaga
      181 agagatctgt gagtgaaata cagcttatgc ataacctggg aaaacatctg aactcgatgg
      241 agagagtaga atggctgcgt aagaagctgc aggatgtgca caattttgtt gcccttggag
      301 ctcctctagc tcccagagat gctggttccc agaggccccg aaaaaaggaa gacaatgtct
      361 tggttgagag ccatgaaaaa agtcttggag aggcagacaa agctgatgtg aatgtattaa
      421 ctaaagctaa atcccagtga aaatgaaaac agatattgtc agagttctgc tctagacagt
      481 gtagggcaac aatacatgct gctaattcaa agctctatta agatttccaa gtgccaatat
      541 ttctgatata acaaactaca tgtaatccat cactagccat gataactgca attttaattg
      601 attattctga ttccactttt attcatttga gttattttaa ttatcttttc tattgtttat
      661 tctttttaaa gtatgttatt gcataattta taaaagaata aaattgcact tttaaacctc
      721 tcttctacct taaaatgtaa aacaaaaatg taatgatcat aagtctaaat aaatgaagta
      781 tttctcactc a
//
