LOCUS       NM_003865                977 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens HESX homeobox 1 (HESX1), transcript variant 1, mRNA.
ACCESSION   NM_003865
VERSION     NM_003865.3
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 977)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 977)
  AUTHORS   Alesi,V., Dentici,M.L., Genovese,S., Loddo,S., Bellacchio,E.,
            Orlando,V., Di Tommaso,S., Catino,G., Calacci,C., Calvieri,G.,
            Pompili,D., Ubertini,G., Dallapiccola,B., Capolino,R. and
            Novelli,A.
  TITLE     Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth
            Hormone Deficiency and Early Onset Osteoporosis
  JOURNAL   Int J Mol Sci 22 (2), 750 (2021)
   PUBMED   33451138
  REMARK    GeneRIF: Homozygous HESX1 and COL1A1 Gene Variants in a Boy with
            Growth Hormone Deficiency and Early Onset Osteoporosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 977)
  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   4  (bases 1 to 977)
  AUTHORS   Madeira,J.L., Nishi,M.Y., Nakaguma,M., Benedetti,A.F.,
            Biscotto,I.P., Fernandes,T., Pequeno,T., Figueiredo,T.,
            Franca,M.M., Correa,F.A., Otto,A.P., Abrao,M., Miras,M.B.,
            Santos,S., Jorge,A.A., Costalonga,E.F., Mendonca,B.B., Arnhold,I.J.
            and Carvalho,L.R.
  TITLE     Molecular analysis of brazilian patients with combined pituitary
            hormone deficiency and orthotopic posterior pituitary lobe reveals
            eight different PROP1 alterations with three novel mutations
  JOURNAL   Clin Endocrinol (Oxf) 87 (6), 725-732 (2017)
   PUBMED   28734020
  REMARK    GeneRIF: Study did not identify HESX1 and LHX3 mutations by Sanger
            in brazilian patients with combined pituitary hormone deficiency
REFERENCE   5  (bases 1 to 977)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 977)
  AUTHORS   Dattani,M.T., Martinez-Barbera,J.P., Thomas,P.Q., Brickman,J.M.,
            Gupta,R., Martensson,I.L., Toresson,H., Fox,M., Wales,J.K.,
            Hindmarsh,P.C., Krauss,S., Beddington,R.S. and Robinson,I.C.
  TITLE     Mutations in the homeobox gene HESX1/Hesx1 associated with
            septo-optic dysplasia in human and mouse
  JOURNAL   Nat Genet 19 (2), 125-133 (1998)
   PUBMED   9620767
REFERENCE   7  (bases 1 to 977)
  AUTHORS   Kazanskaya,O.V., Severtzova,E.A., Barth,K.A., Ermakova,G.V.,
            Lukyanov,S.A., Benyumov,A.O., Pannese,M., Boncinelli,E.,
            Wilson,S.W. and Zaraisky,A.G.
  TITLE     Anf: a novel class of vertebrate homeobox genes expressed at the
            anterior end of the main embryonic axis
  JOURNAL   Gene 200 (1-2), 25-34 (1997)
   PUBMED   9373136
REFERENCE   8  (bases 1 to 977)
  AUTHORS   Wales,J.K. and Quarrell,O.W.
  TITLE     Evidence for possible Mendelian inheritance of septo-optic
            dysplasia
  JOURNAL   Acta Paediatr 85 (3), 391-392 (1996)
   PUBMED   8696006
REFERENCE   9  (bases 1 to 977)
  AUTHORS   Thomas,P.Q., Johnson,B.V., Rathjen,J. and Rathjen,P.D.
  TITLE     Sequence, genomic organization, and expression of the novel
            homeobox gene Hesx1
  JOURNAL   J Biol Chem 270 (8), 3869-3875 (1995)
   PUBMED   7876132
REFERENCE   10 (bases 1 to 977)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093928.2, BC112089.1 and
            AI652412.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003865.2.
            
            Summary: This gene encodes a conserved homeobox protein that is a
            transcriptional repressor in the developing forebrain and pituitary
            gland. Mutations in this gene are associated with septooptic
            dysplasia, HESX1-related growth hormone deficiency, and combined
            pituitary hormone deficiency. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1163655.695859.1, BC093979.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2163623 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295934.8/ ENSP00000295934.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AC093928.2         29719-29732         c
            15-676              BC112089.1         1-662
            677-899             AI652412.1         10-232              c
            900-977             AC093928.2         27592-27669         c
FEATURES             Location/Qualifiers
     source          1..977
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     gene            1..977
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /note="HESX homeobox 1"
                     /db_xref="GeneID:8820"
                     /db_xref="HGNC:HGNC:4877"
                     /db_xref="MIM:601802"
     exon            1..217
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..618
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /note="Rathke pouch homeobox; homeobox protein ANF;
                     Rathke's pouch homeobox"
                     /codon_start=1
                     /product="homeobox expressed in ES cells 1"
                     /protein_id="NP_003856.1"
                     /db_xref="CCDS:CCDS2881.1"
                     /db_xref="GeneID:8820"
                     /db_xref="HGNC:HGNC:4877"
                     /db_xref="MIM:601802"
                     /translation="MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRP
                     WADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMPEERASKYENYFSASERLSLKRE
                     LSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
                     AKLKRSHRESQFLMAKKNFNTNLLE"
     exon            218..417
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /inference="alignment:Splign:2.1.0"
     exon            418..519
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /inference="alignment:Splign:2.1.0"
     exon            520..977
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      876..881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /note="hexamer: AATAAA"
     polyA_site      899
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /note="major polyA site"
     regulatory      959..964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /note="hexamer: AATAAT"
     polyA_site      977
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /note="major polyA site"
ORIGIN      
        1 atacacgtgg ggcagagcca gcagaggcca gagctgttgc tctgtgcaga ccacgagagg
       61 atgtctccca gccttcagga aggcgctcag ctcggggaaa acaaaccctc aacttgctcc
      121 ttttcaattg agagaatctt aggactggac cagaagaaag actgtgttcc attaatgaaa
      181 ccccacaggc cctgggcaga cacctgcagc tcatcaggga aagatggtaa cttatgtcta
      241 catgtcccaa atcctcccag tgggatttca ttccctagcg tggtggatca cccaatgcca
      301 gaagaaagag cttcgaaata tgaaaattac ttttcagcct cagaaagact gtctttgaaa
      361 agagagttga gttggtatag aggccgaaga ccaagaactg cttttactca aaaccagatt
      421 gaagtgttag aaaatgtctt tagagtaaac tgctatcctg gtatcgatat tagagaagac
      481 ttagctcaaa aattgaatct agaggaagac agaatccaga tttggtttca aaatcggcgt
      541 gcaaaactga aaaggtccca tagagaatca cagtttctaa tggcgaaaaa aaatttcaac
      601 acaaatctgc tggaatagat agaaaactaa acaagtgaaa ttatcttcta attgcagagc
      661 atgaagaatc agtggaaata ttaagtgtta aaatgtgatg ttttctttcc tgcatttaat
      721 ctgaatattg tcattttttc tgaaaatata ttgtaaatac tattatagca tggtacatat
      781 ttgggcactt ttagttatag taaagacctt ttatatatat tttaataaac attttcagaa
      841 aagattgcta ttttttaagt aagccaaatt aatctaataa attagtttgt taaaatcaat
      901 agactcatga ctaagtgatt ccacaagctg gattctaatt ataaagtatt tcaagtaaaa
      961 taatctgaag aacaaaa
//
