GGRNA | NM_003865.2

LOCUS       NM_003865               1182 bp    mRNA    linear   PRI 09-JUN-2013
DEFINITION  Homo sapiens HESX homeobox 1 (HESX1), mRNA.
ACCESSION   NM_003865
VERSION     NM_003865.2  GI:171184419
KEYWORDS    RefSeq.
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 1182)
  AUTHORS   Vivenza,D., Godi,M., Faienza,M.F., Mellone,S., Moia,S., Rapa,A.,
            Petri,A., Bellone,S., Riccomagno,S., Cavallo,L., Giordano,M. and
            Bona,G.
  TITLE     A novel HESX1 splice mutation causes isolated GH deficiency by
            interfering with mRNA processing
  JOURNAL   Eur. J. Endocrinol. 164 (5), 705-713 (2011)
   PUBMED   21325470
  REMARK    GeneRIF: A c.357+3G>A mutation prevents the generation of one of
            the alternative isoforms normally produced by the wild-type allele,
            predicting a truncated HESX1 protein.
REFERENCE   2  (bases 1 to 1182)
  AUTHORS   Reynaud,R., Albarel,F., Saveanu,A., Kaffel,N., Castinetti,F.,
            Lecomte,P., Brauner,R., Simonin,G., Gaudart,J., Carmona,E.,
            Enjalbert,A., Barlier,A. and Brue,T.
  TITLE     Pituitary stalk interruption syndrome in 83 patients: novel HESX1
            mutation and severe hormonal prognosis in malformative forms
  JOURNAL   Eur. J. Endocrinol. 164 (4), 457-465 (2011)
   PUBMED   21270112
  REMARK    GeneRIF: A novel HESX1 causative mutation was found in a
            consanguineous family, and two LHX4 mutations were present in
            familial Pituitary stalk interruption syndrome.
REFERENCE   3  (bases 1 to 1182)
  AUTHORS   Mellado,C., Poduri,A., Gleason,D., Elhosary,P.C., Barry,B.J.,
            Partlow,J.N., Chang,B.S., Shaw,G.M., Barkovich,A.J. and Walsh,C.A.
  TITLE     Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large
            schizencephaly cohort
  JOURNAL   Am. J. Med. Genet. A 152A (11), 2736-2742 (2010)
   PUBMED   20949537
  REMARK    GeneRIF: A large cohort of patients with schizencephaly, some with
            features of septo-optic dysplasia, were sequenced for mutations in
            LHX2, HESX1 and SOX2.
REFERENCE   4  (bases 1 to 1182)
  AUTHORS   Campanini,M.L., Colli,L.M., Paixao,B.M., Cabral,T.P., Amaral,F.C.,
            Machado,H.R., Neder,L.S., Saggioro,F., Moreira,A.C., Antonini,S.R.
            and de Castro,M.
  TITLE     CTNNB1 gene mutations, pituitary transcription factors, and
            MicroRNA expression involvement in the pathogenesis of
            adamantinomatous craniopharyngiomas
  JOURNAL   Horm Cancer 1 (4), 187-196 (2010)
   PUBMED   21761366
  REMARK    GeneRIF: Data show no mutations in HESX1, PROP1, and POU1F1 genes,
            seven different mutations in CTNNB1 in 8/16 patients, and
            hyperexpression of miR-150.
REFERENCE   5  (bases 1 to 1182)
  AUTHORS   Cruz,J.B., Nunes,V.S., Clara,S.A., Perone,D., Kopp,P. and
            Nogueira,C.R.
  TITLE     Molecular analysis of the PROP1 and HESX1 genes in patients with
            septo-optic dysplasia and/or pituitary hormone deficiency
  JOURNAL   Arq Bras Endocrinol Metabol 54 (5), 482-487 (2010)
   PUBMED   20694410
  REMARK    GeneRIF: Mutations in the PROP1 and HESX1 genes were not identified
            in these patients with sporadic growth hormone defiency, combined
            pituitary hormone deficiency and septo-optic dysplasia.
REFERENCE   6  (bases 1 to 1182)
  AUTHORS   Thomas,P.Q., Dattani,M.T., Brickman,J.M., McNay,D., Warne,G.,
            Zacharin,M., Cameron,F., Hurst,J., Woods,K., Dunger,D.,
            Stanhope,R., Forrest,S., Robinson,I.C. and Beddington,R.S.
  TITLE     Heterozygous HESX1 mutations associated with isolated congenital
            pituitary hypoplasia and septo-optic dysplasia
  JOURNAL   Hum. Mol. Genet. 10 (1), 39-45 (2001)
   PUBMED   11136712
REFERENCE   7  (bases 1 to 1182)
  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   8  (bases 1 to 1182)
  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   9  (bases 1 to 1182)
  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   10 (bases 1 to 1182)
  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
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 Mar 28, 2008 this sequence version replaced gi:4504366.
            
            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 :: BC093979.1, EL736199.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025083, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-288               AC093928.2         29719-30006         c
            289-950             BC112089.1         1-662
            951-1182            AI652412.1         1-232               c
FEATURES             Location/Qualifiers
     source          1..1182
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     gene            1..1182
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /note="HESX homeobox 1"
                     /db_xref="GeneID:8820"
                     /db_xref="HGNC:4877"
                     /db_xref="HPRD:03482"
                     /db_xref="MIM:601802"
     exon            1..491
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /inference="alignment:Splign:1.39.8"
     variation       59
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:983243"
     misc_feature    245..247
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /note="upstream in-frame stop codon"
     STS             266..892
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /db_xref="UniSTS:480628"
     STS             289..950
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /db_xref="UniSTS:483477"
     CDS             335..892
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /note="homeobox, ES cell expressed 1; Rathke pouch
                     homeobox; hAnf; homeobox protein ANF"
                     /codon_start=1
                     /product="homeobox expressed in ES cells 1"
                     /protein_id="NP_003856.1"
                     /db_xref="GI:4504367"
                     /db_xref="CCDS:CCDS2881.1"
                     /db_xref="GeneID:8820"
                     /db_xref="HGNC:4877"
                     /db_xref="HPRD:03482"
                     /db_xref="MIM:601802"
                     /translation="

MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMPEERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRRAKLKRSHRESQFLMAKKNFNTNLLE

"
     misc_feature    659..835
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(659..673,677..679,728..730,746..748,785..787,
                     791..796,803..808,812..820,824..829)
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(665..667,674..676,794..796,803..808,815..817)
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     exon            492..691
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /inference="alignment:Splign:1.39.8"
     exon            692..793
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /inference="alignment:Splign:1.39.8"
     exon            794..1173
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /inference="alignment:Splign:1.39.8"
     STS             928..1062
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /standard_name="RH48343"
                     /db_xref="UniSTS:58053"
     polyA_signal    1150..1155
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
     polyA_site      1173
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
ORIGIN

ccacatttgtgcatcacttctttagagaaagttaagtctgtgttctgcttaggagagataacactttttgtccctgtaggtggcccccctggtgtagccattagttgctaattacttgcaaacaaataaacaattaactccttaagctgctggctgggcaagtgttcattgacatgctaaaactttctaagacaggattttaattagtgacgttctaaatccagcccccttgtcagcggagctataaggtgaactgcaggaagatcccagccctatacacgtggggcagagccagcagaggccagagctgttgctctgtgcagaccacgagaggatgtctcccagccttcaggaaggcgctcagctcggggaaaacaaaccctcaacttgctccttttcaattgagagaatcttaggactggaccagaagaaagactgtgttccattaatgaaaccccacaggccctgggcagacacctgcagctcatcagggaaagatggtaacttatgtctacatgtcccaaatcctcccagtgggatttcattccctagcgtggtggatcacccaatgccagaagaaagagcttcgaaatatgaaaattacttttcagcctcagaaagactgtctttgaaaagagagttgagttggtatagaggccgaagaccaagaactgcttttactcaaaaccagattgaagtgttagaaaatgtctttagagtaaactgctatcctggtatcgatattagagaagacttagctcaaaaattgaatctagaggaagacagaatccagatttggtttcaaaatcggcgtgcaaaactgaaaaggtcccatagagaatcacagtttctaatggcgaaaaaaaatttcaacacaaatctgctggaatagatagaaaactaaacaagtgaaattatcttctaattgcagagcatgaagaatcagtggaaatattaagtgttaaaatgtgatgttttctttcctgcatttaatctgaatattgtcattttttctgaaaatatattgtaaatactattatagcatggtacatatttgggcacttttagttatagtaaagaccttttatatatattttaataaacattttcagaaaagattgctattttttaagtaagccaaattaatctaataaattagtttgttaaaatcaaaaaaaaaaa

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