GGRNA | NM_005515.3

LOCUS       NM_005515               2176 bp    mRNA    linear   PRI 05-MAY-2013
DEFINITION  Homo sapiens motor neuron and pancreas homeobox 1 (MNX1),
            transcript variant 1, mRNA.
ACCESSION   NM_005515
VERSION     NM_005515.3  GI:89257347
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 2176)
  AUTHORS   Holm,I., Monclair,T., Lundar,T., Stadheim,B., Prescott,T.E. and
            Eiklid,K.L.
  TITLE     A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian
            family with Currarino syndrome
  JOURNAL   Gene 518 (2), 457-460 (2013)
   PUBMED   23370340
  REMARK    GeneRIF: study describes a Norwegian family with typical Currarino
            syndrome in which a heterozygous deletion removes the entire MNX1
            gene but no other known genes; also report MNX1 mutations in 3other
            Norwegian families and confirm that the GCC12 repeat
            (c.373_375[12]) is a normal allelic variant
REFERENCE   2  (bases 1 to 2176)
  AUTHORS   Wildenhain,S., Ingenhag,D., Ruckert,C., Degistirici,O., Dugas,M.,
            Meisel,R., Hauer,J. and Borkhardt,A.
  TITLE     Homeobox protein HB9 binds to the prostaglandin E receptor 2
            promoter and inhibits intracellular cAMP mobilization in leukemic
            cells
  JOURNAL   J. Biol. Chem. 287 (48), 40703-40712 (2012)
   PUBMED   23048027
  REMARK    GeneRIF: HB9 binds to the prostaglandin E receptor 2 promoter and
            inhibits intracellular cAMP mobilization in leukemic cells.
REFERENCE   3  (bases 1 to 2176)
  AUTHORS   Markljung,E., Adamovic,T., Cao,J., Naji,H., Kaiser,S., Wester,T.
            and Nordenskjold,A.
  TITLE     Novel mutations in the MNX1 gene in two families with Currarino
            syndrome and variable phenotype
  JOURNAL   Gene 507 (1), 50-53 (2012)
   PUBMED   22820079
  REMARK    GeneRIF: two novel mutations in the MNX1 gene in cases with
            Currarino syndrome
REFERENCE   4  (bases 1 to 2176)
  AUTHORS   Wang,Y. and Wu,Y.
  TITLE     A novel HLXB9 mutation in a Chinese family with Currarino syndrome
  JOURNAL   Eur J Pediatr Surg 22 (3), 243-245 (2012)
   PUBMED   21960426
  REMARK    GeneRIF: a new HLXB9 gene mutation identified in a Chinese family
            with members suffering from Currarino syndrome
REFERENCE   5  (bases 1 to 2176)
  AUTHORS   Zu,S., Winberg,J., Arnberg,F., Palmer,G., Svensson,P.J., Wester,T.
            and Nordenskjold,A.
  TITLE     Mutation analysis of the motor neuron and pancreas homeobox 1
            (MNX1, former HLXB9) gene in Swedish patients with Currarino
            syndrome
  JOURNAL   J. Pediatr. Surg. 46 (7), 1390-1395 (2011)
   PUBMED   21763840
  REMARK    GeneRIF: 2 previously described mutations, 1 de novo nonsense
            mutation (p.Gln212X) & 1 maternally inherited frameshift mutation
            (p.Pro18ProfsX38)were found among 14 Currarino syndrome patients
            with presacral tumors.
REFERENCE   6  (bases 1 to 2176)
  AUTHORS   Ross,A.J., Ruiz-Perez,V., Wang,Y., Hagan,D.M., Scherer,S.,
            Lynch,S.A., Lindsay,S., Custard,E., Belloni,E., Wilson,D.I.,
            Wadey,R., Goodman,F., Orstavik,K.H., Monclair,T., Robson,S.,
            Reardon,W., Burn,J., Scambler,P. and Strachan,T.
  TITLE     A homeobox gene, HLXB9, is the major locus for dominantly inherited
            sacral agenesis
  JOURNAL   Nat. Genet. 20 (4), 358-361 (1998)
   PUBMED   9843207
REFERENCE   7  (bases 1 to 2176)
  AUTHORS   Lynch,S.A., Bond,P.M., Copp,A.J., Kirwan,W.O., Nour,S., Balling,R.,
            Mariman,E., Burn,J. and Strachan,T.
  TITLE     A gene for autosomal dominant sacral agenesis maps to the
            holoprosencephaly region at 7q36
  JOURNAL   Nat. Genet. 11 (1), 93-95 (1995)
   PUBMED   7550324
REFERENCE   8  (bases 1 to 2176)
  AUTHORS   Harrison,K.A., Druey,K.M., Deguchi,Y., Tuscano,J.M. and Kehrl,J.H.
  TITLE     A novel human homeobox gene distantly related to proboscipedia is
            expressed in lymphoid and pancreatic tissues
  JOURNAL   J. Biol. Chem. 269 (31), 19968-19975 (1994)
   PUBMED   7914194
REFERENCE   9  (bases 1 to 2176)
  AUTHORS   Deguchi,Y. and Kehrl,J.H.
  TITLE     Selective expression of two homeobox genes in CD34-positive cells
            from human bone marrow
  JOURNAL   Blood 78 (2), 323-328 (1991)
   PUBMED   1712647
REFERENCE   10 (bases 1 to 2176)
  AUTHORS   Deguchi,Y. and Kehrl,J.H.
  TITLE     Nucleotide sequence of a novel diverged human homeobox gene encodes
            a DNA binding protein
  JOURNAL   Nucleic Acids Res. 19 (13), 3742 (1991)
   PUBMED   1677181
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006357.5 and AF107457.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 8, 2006 this sequence version replaced gi:38348182.
            
            Summary: This gene encodes a nuclear protein, which contains a
            homeobox domain and is a transcription factor. Mutations in this
            gene result in Currarino syndrome, an autosomic dominant congenital
            malformation. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: AF107457.1, X56537.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025085 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-704               AC006357.5         16324-17027
            705-1674            AF107457.1         589-1558
            1675-2176           AC006357.5         21623-22124
FEATURES             Location/Qualifiers
     source          1..2176
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36"
     gene            1..2176
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /note="motor neuron and pancreas homeobox 1"
                     /db_xref="GeneID:3110"
                     /db_xref="HGNC:4979"
                     /db_xref="MIM:142994"
     exon            1..994
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /inference="alignment:Splign:1.39.8"
     variation       11
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:885832"
     variation       195
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:3940311"
     misc_feature    280..282
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /note="upstream in-frame stop codon"
     CDS             304..1509
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     homeobox HB9; motor neuron and pancreas homeobox protein
                     1; homeobox protein HB9"
                     /codon_start=1
                     /product="motor neuron and pancreas homeobox protein 1
                     isoform 1"
                     /protein_id="NP_005506.3"
                     /db_xref="GI:89257348"
                     /db_xref="CCDS:CCDS34788.1"
                     /db_xref="GeneID:3110"
                     /db_xref="HGNC:4979"
                     /db_xref="MIM:142994"
                     /translation="

MEKSKNFRIDALLAVDPPRAASAQSAPLALVTSLAAAASGTGGGGGGGGASGGTSGSCSPASSEPPAAPADRLRAESPSPPRLLAAHCALLPKPGFLGAGGGGGGTGGGHGGPHHHAHPGAAAAAAAAAAAAAAGGLALGLHPGGAQGGAGLPAQAALYGHPVYGYSAAAAAAALAGQHPALSYSYPQVQGAHPAHPADPIKLGAGTFQLDQWLRASTAGMILPKMPDFNSQAQSNLLGKCRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVATSLMLTETQVKIWFQNRRMKWKRSKKAKEQAAQEAEKQKGGGGGAGKGGAEEPGAEELLGPPAPGDKGSGRRLRDLRDSDPEEDEDEDDEDHFPYSNGASVHAASSDCSSEDDSPPPRPSHQPAPQ

"
     misc_feature    1027..1200
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /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(1027..1041,1045..1047,1096..1098,1114..1116,
                     1153..1155,1159..1164,1171..1176,1180..1188,1192..1197)
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(1033..1035,1042..1044,1162..1164,1171..1176,
                     1183..1185)
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     exon            995..1155
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /inference="alignment:Splign:1.39.8"
     exon            1156..2176
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /inference="alignment:Splign:1.39.8"
     STS             1922..2023
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /standard_name="D7S2795"
                     /db_xref="UniSTS:79303"
     variation       1941
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1047240"
     polyA_signal    2154..2159
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
     polyA_site      2175
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
ORIGIN

cagcggcctccgcgcggtcgcctgagggctgcagcgcaaagaaccgggctcccgggcccggacgcggggaagcactcgcgtgggagtttgtgcgagcgcggcccggggcggggcccgcacggaggaggcgccgggaccatggtcaccctcggctgagtttccggcggcgactttgattattggcaaataaccaccataacaataccgagcccccgggcttgcaccgcacgcactgactccgcgagcccgcacacggccgcgtcgcccgccaccgggccctgagcgccagccccaaacgagccgatggaaaaatccaaaaatttccgcatcgacgccctgctggcggtggaccccccacgagccgcctctgcgcagagcgcgccgctggccttggtcacgtcgctcgccgccgccgcatctggcaccggaggtggcggcggcggcggcggggcgagcggcgggactagcggcagctgcagccccgcgtcctcggagccgccggctgcgcccgccgaccgcctgcgcgccgagagcccgtcgccgccgcgcctgctggccgcgcactgcgcgctgctgcccaagccgggcttcctgggcgcgggcggcggcggcggcggcacgggcggcgggcacggggggccccaccaccacgcgcatccgggcgcagcggccgctgccgccgccgccgccgccgccgccgccgctgggggcctggcgctggggctgcaccctgggggcgcgcagggcggcgcgggcctcccggcgcaggcggcgctctacggccacccggtctacggctactccgcggcggcggcggcggctgcgctggcgggccagcacccggcgctctcctactcgtacccgcaggtgcaaggcgcgcaccccgcgcaccccgccgaccccatcaagctgggcgccggcaccttccagctggaccagtggctgcgcgcgtccaccgcgggcatgatcctgcctaagatgcccgacttcaactcccaggcgcagtcgaacctcctggggaagtgccgccggccgcgcaccgccttcaccagccagcagctgctggagctggagcaccagttcaagctcaacaagtacctgtcgcggcccaagcgcttcgaggtggccacctcgctcatgctcaccgagacccaggtgaagatttggttccagaaccggcggatgaaatggaaacgcagcaaaaaggccaaagagcaggcggcgcaggaagcggagaaacagaagggcggcggcgggggcgcggggaagggcggcgcggaggagccgggagccgaggagctgctggggccgccagcgcccggagacaagggcagcggacgccgcctgcgggacttgagggacagtgaccccgaggaggacgaggacgaggacgacgaggaccatttcccctacagcaacggcgccagcgtccacgccgcctcctccgactgctcctcggaggacgactcgccgcccccgcggcccagccaccagcccgcgccccagtaggagccccgcggcccagcaggtgcggcgcgcacggagcgccccggccggcggcttctcccggaggccccggcgcccgcacccacccggcccggccccgagagcaggctcgaccgccgccccatggacccctcgcccaggccggggctggagggattcggccgcggctccggtcctgggcgcttcccttttaagcaagggcgcctcacctgctcttcaagaaacagcgagagggagacccagggggctgaaacttgaactctggttcttttaaaattaattttggttggtgttgggggaggcgcgagtgcgtgtgagaagaaccgacccaccccgcgcaaggggaagcctcctgtctcccctttccccgcgtccgagaaggcggaaacccacagtgttacctgacttatgaaacttgaaaccgcctctggagccgccattctgcagagtatttggaaaaagaaaaaagggtttatgcttacgtctctggggtcggggggattatgtcacgagcgttcaaactgctggaaatctcaaaactgtactgtctttatttttgtatattgtatttatatataaaaagaaacgtctacgtatgcatgctaaattattatttagcttctcccatcgcccacgatggaatgtaaaataaattggttttgtactggat

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