LOCUS       NM_006261               1464 bp    mRNA    linear   PRI 08-FEB-2025
DEFINITION  Homo sapiens PROP paired-like homeobox 1 (PROP1), mRNA.
ACCESSION   NM_006261
VERSION     NM_006261.5
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 1464)
  AUTHORS   Zygmunt-Gorska,A., Wojcik,M., Gilis-Januszewska,A., Starmach,A.,
            Bik-Multanowski,M. and Starzyk,J.B.
  TITLE     Comparison of clinical characteristics of a pediatric cohort with
            combined pituitary hormone deficiency caused by mutation of the
            PROP1 gene or of other origins
  JOURNAL   Hormones (Athens) 23 (1), 69-79 (2024)
   PUBMED   38147295
  REMARK    GeneRIF: Comparison of clinical characteristics of a pediatric
            cohort with combined pituitary hormone deficiency caused by
            mutation of the PROP1 gene or of other origins.
            Erratum:[Hormones (Athens). 2024 Jun;23(2):357. doi:
            10.1007/s42000-024-00543-0.. PMID: 38498234]
REFERENCE   2  (bases 1 to 1464)
  AUTHORS   Almatrafi,A.M., Hibshi,A.M. and Basit,S.
  TITLE     Association of Homozygous PROP1 Mutation in a Saudi Family with
            Combined Pituitary Hormone Deficiency
  JOURNAL   Medicina (Kaunas) 59 (3), 474 (2023)
   PUBMED   36984475
  REMARK    GeneRIF: Association of Homozygous PROP1 Mutation in a Saudi Family
            with Combined Pituitary Hormone Deficiency.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1464)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   4  (bases 1 to 1464)
  AUTHORS   Bulut,F.D., Ozdemir Dilek,S., Kotan,D., Mengen,E., Gurbuz,F. and
            Yuksel,B.
  TITLE     Mutations Within the Transcription Factor PROP1 in a Cohort of
            Turkish Patients with Combined Pituitary Hormone Deficiency
  JOURNAL   J Clin Res Pediatr Endocrinol 12 (3), 261-268 (2020)
   PUBMED   31948187
  REMARK    GeneRIF: Mutations Within the Transcription Factor PROP1 in a
            Cohort of Turkish Patients with Combined Pituitary Hormone
            Deficiency
REFERENCE   5  (bases 1 to 1464)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1464)
  AUTHORS   Cogan,J.D., Wu,W., Phillips,J.A. 3rd, Arnhold,I.J., Agapito,A.,
            Fofanova,O.V., Osorio,M.G., Bircan,I., Moreno,A. and Mendonca,B.B.
  TITLE     The PROP1 2-base pair deletion is a common cause of combined
            pituitary hormone deficiency
  JOURNAL   J Clin Endocrinol Metab 83 (9), 3346-3349 (1998)
   PUBMED   9745452
REFERENCE   7  (bases 1 to 1464)
  AUTHORS   Amendt,B.A., Sutherland,L.B., Semina,E.V. and Russo,A.F.
  TITLE     The molecular basis of Rieger syndrome. Analysis of Pitx2
            homeodomain protein activities
  JOURNAL   J Biol Chem 273 (32), 20066-20072 (1998)
   PUBMED   9685346
REFERENCE   8  (bases 1 to 1464)
  AUTHORS   Fofanova,O., Takamura,N., Kinoshita,E., Parks,J.S., Brown,M.R.,
            Peterkova,V.A., Evgrafov,O.V., Goncharov,N.P., Bulatov,A.A.,
            Dedov,I.I. and Yamashita,S.
  TITLE     Compound heterozygous deletion of the PROP-1 gene in children with
            combined pituitary hormone deficiency
  JOURNAL   J Clin Endocrinol Metab 83 (7), 2601-2604 (1998)
   PUBMED   9661653
REFERENCE   9  (bases 1 to 1464)
  AUTHORS   Wu,W., Cogan,J.D., Pfaffle,R.W., Dasen,J.S., Frisch,H.,
            O'Connell,S.M., Flynn,S.E., Brown,M.R., Mullis,P.E., Parks,J.S.,
            Phillips,J.A. 3rd and Rosenfeld,M.G.
  TITLE     Mutations in PROP1 cause familial combined pituitary hormone
            deficiency
  JOURNAL   Nat Genet 18 (2), 147-149 (1998)
   PUBMED   9462743
REFERENCE   10 (bases 1 to 1464)
  AUTHORS   Carvalho,L.R., Nishi,M.Y., Correa,F.A., Moreira Marques,J.,
            Arnhold,I.J.P. and Mendonca,B.B.
  TITLE     PROP1-Related Combined Pituitary Hormone Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301521
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC136940.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 21, 2020 this sequence version replaced NM_006261.4.
            
            Summary: This gene encodes a paired-like homeodomain transcription
            factor in the developing pituitary gland. Expression occurs prior
            to and is required for expression of pou domain transcription
            factor 1, which is responsible for pituitary development and
            hormone expression. Mutations in this gene have been associated
            with combined pituitary hormone deficiency-2 as well as
            deficiencies in luteinizing hormone, follicle-stimulating hormone,
            growth hormone, prolactin, and thyroid-stimulating hormone.
            [provided by RefSeq, Sep 2011].
            
            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 :: AF076215.1, BC069076.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968968,
                                           SAMN03465402 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308304.2/ ENSP00000311290.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-418               AC136940.2         33302-33719
            419-651             AC136940.2         35206-35438
            652-1464            AC136940.2         36497-37309
FEATURES             Location/Qualifiers
     source          1..1464
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..1464
                     /gene="PROP1"
                     /gene_synonym="CPHD2; PROP-1"
                     /note="PROP paired-like homeobox 1"
                     /db_xref="GeneID:5626"
                     /db_xref="HGNC:HGNC:9455"
                     /db_xref="MIM:601538"
     exon            1..418
                     /gene="PROP1"
                     /gene_synonym="CPHD2; PROP-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             310..990
                     /gene="PROP1"
                     /gene_synonym="CPHD2; PROP-1"
                     /note="prophet of Pit1, paired-like homeodomain
                     transcription factor; pituitary-specific homeodomain
                     factor"
                     /codon_start=1
                     /product="homeobox protein prophet of Pit-1"
                     /protein_id="NP_006252.4"
                     /db_xref="CCDS:CCDS4430.1"
                     /db_xref="GeneID:5626"
                     /db_xref="HGNC:HGNC:9455"
                     /db_xref="MIM:601538"
                     /translation="MEAERRRQAEKPKKGRVGSNLLPERHPATGTPTTTVDSSAPPCR
                     RLPGAGGGRSRFSPQGGQRGRPHSRRRHRTTFSPVQLEQLESAFGRNQYPDIWARESL
                     ARDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSPAAFSSFLPESTACPYSYAAP
                     PPPVTCFPHPYSHALPSQPSTGGAFALSHQSEDWYPTLHPAPAGHLPCPPPPPMLPLS
                     LEPSKSWN"
     exon            419..651
                     /gene="PROP1"
                     /gene_synonym="CPHD2; PROP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            652..1464
                     /gene="PROP1"
                     /gene_synonym="CPHD2; PROP-1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcatcccggt ggggagaagg gccaggcaga gaaaagtagt cagaaacaga gcaacaggtg
       61 aggctgaggc aggagattga gctgacactc aagccaagga agggggaatt aggaaacaat
      121 tagaaaaaaa gtaaagacag tgaaaaagtc agagacagct gcctgcacct acacacacat
      181 tcagagacag agtcccagag ggtggcatac acagagggag aaggggaggg aacaggtgtg
      241 gagaggagct gcggaagcag agaaatctca agtcagagat tcagggacac ttggtccccg
      301 tggcgagcca tggaagcaga aaggaggcgc caggctgaga agccaaagaa ggggcgagtc
      361 ggcagcaacc tgttgcctga gagacacccg gccactggga ccccgaccac cacggtggac
      421 tcgagtgctc caccctgcag aaggctccct ggtgcaggag gggggagatc aaggttctcc
      481 ccgcaaggag gacagagggg ccgcccgcac tcccggcgcc gccaccgcac caccttcagc
      541 ccagtgcagt tggaacagct ggagtcagcc tttgggagga accagtaccc cgacatctgg
      601 gcccgagaga gtcttgcccg ggacactggc ctcagtgagg cccgaatcca ggtctggttc
      661 cagaaccgca gagctaagca acggaagcaa gagcgctcac tgcttcagcc tctggcccat
      721 ctgtctcctg ccgccttttc cagcttcttg ccagagtcca ctgcttgccc ctattcttac
      781 gcagcaccac caccaccagt gacctgcttc cctcacccct acagccatgc cctcccttcc
      841 cagccctcca caggaggcgc ctttgctttg tcacaccagt ctgaggactg gtaccctacc
      901 ttgcacccag cccctgccgg ccatctgccc tgccccccac cccctcccat gctccccctc
      961 agccttgagc catccaagtc ctggaactga ggtcaaacaa gtaccaccaa ggtgatcccc
     1021 agcctgcggc cctcgtgaaa agacaagaaa atggggtggc ttcctttcca tctatgggtg
     1081 aagcagatgc atggtgaggg tcagctcagc gattagaaat ttaaaaatgg gagatcatgg
     1141 tgaattctca ctggggtgat tagtggagga agtctgggga ggtgagctac tggaagagac
     1201 agggcaagat gcctcggtgg agctgcctgc tgaagggtga tattgatgaa gacagttgct
     1261 ggtgagtgga gatgattgaa gggctaggag gtgagggcct tcattaattg agatcacgat
     1321 tgaagaagat cccagctctt tctggctgat ttcagtaagg cttctgactt aagagtctac
     1381 ctatacatcc cttccccatt gcccaccccg ccatctcaat cagtcactga cttttgttta
     1441 ttctgtccta gaaatacctt tttt
//
