LOCUS       NM_005515               2185 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens motor neuron and pancreas homeobox 1 (MNX1),
            transcript variant 1, mRNA.
ACCESSION   NM_005515
VERSION     NM_005515.4
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 2185)
  AUTHORS   Waraky,A., Ostlund,A., Nilsson,T., Weichenhan,D., Lutsik,P.,
            Bahr,M., Hey,J., Tunali,G., Adamsson,J., Jacobsson,S.,
            Morsy,M.H.A., Li,S., Fogelstrand,L., Plass,C. and Palmqvist,L.
  TITLE     Aberrant MNX1 expression associated with t(7;12)(q36;p13) pediatric
            acute myeloid leukemia induces the disease through altering histone
            methylation
  JOURNAL   Haematologica 109 (3), 725-739 (2024)
   PUBMED   37317878
  REMARK    GeneRIF: Aberrant MNX1 expression associated with t(7;12)(q36;p13)
            pediatric acute myeloid leukemia induces the disease through
            altering histone methylation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2185)
  AUTHORS   Ragusa,D., Tosi,S. and Sisu,C.
  TITLE     Pan-Cancer Analysis Identifies MNX1 and Associated Antisense
            Transcripts as Biomarkers for Cancer
  JOURNAL   Cells 11 (22), 3577 (2022)
   PUBMED   36429006
  REMARK    GeneRIF: Pan-Cancer Analysis Identifies MNX1 and Associated
            Antisense Transcripts as Biomarkers for Cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2185)
  AUTHORS   Nilsson,T., Waraky,A., Ostlund,A., Li,S., Staffas,A., Asp,J.,
            Fogelstrand,L., Abrahamsson,J. and Palmqvist,L.
  TITLE     An induced pluripotent stem cell t(7;12)(q36;p13) acute myeloid
            leukemia model shows high expression of MNX1 and a block in
            differentiation of the erythroid and megakaryocytic lineages
  JOURNAL   Int J Cancer 151 (5), 770-782 (2022)
   PUBMED   35583991
  REMARK    GeneRIF: An induced pluripotent stem cell t(7;12)(q36;p13) acute
            myeloid leukemia model shows high expression of MNX1 and a block in
            differentiation of the erythroid and megakaryocytic lineages.
REFERENCE   4  (bases 1 to 2185)
  AUTHORS   Kato,H., Tateishi,K., Fujiwara,H., Nakatsuka,T., Yamamoto,K.,
            Kudo,Y., Hayakawa,Y., Nakagawa,H., Tanaka,Y., Ijichi,H., Otsuka,M.,
            Iwadate,D., Oyama,H., Kanai,S., Noguchi,K., Suzuki,T., Sato,T.,
            Hakuta,R., Ishigaki,K., Saito,K., Saito,T., Takahara,N.,
            Kishikawa,T., Hamada,T., Takahashi,R., Miyabayashi,K., Mizuno,S.,
            Kogure,H., Nakai,Y., Hirata,Y., Toyoda,A., Ichikawa,K., Qu,W.,
            Morishita,S., Arita,J., Tanaka,M., Ushiku,T., Hasegawa,K.,
            Fujishiro,M. and Koike,K.
  TITLE     MNX1-HNF1B Axis Is Indispensable for Intraductal Papillary Mucinous
            Neoplasm Lineages
  JOURNAL   Gastroenterology 162 (4), 1272-1287 (2022)
   PUBMED   34953915
  REMARK    GeneRIF: MNX1-HNF1B Axis Is Indispensable for Intraductal Papillary
            Mucinous Neoplasm Lineages.
REFERENCE   5  (bases 1 to 2185)
  AUTHORS   Scott,A.T., Tessmann,J.B., Braun,T., Brown,B., Breheny,P.J.,
            Darbro,B.W., Bellizzi,A.M., Dillon,J.S., O'Dorisio,T.M.,
            Alderson,A., Bennett,B., Bernat,J.A., Metz,D.C. and Howe,J.R.
  TITLE     Presacral neuroendocrine tumors associated with the Currarino
            syndrome
  JOURNAL   Am J Med Genet A 185 (5), 1582-1588 (2021)
   PUBMED   33650152
  REMARK    GeneRIF: Presacral neuroendocrine tumors associated with the
            Currarino syndrome.
            Erratum:[Am J Med Genet A. 2022 Apr;188(4):1340. doi:
            10.1002/ajmg.a.62618.. PMID: 34964246]
REFERENCE   6  (bases 1 to 2185)
  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   7  (bases 1 to 2185)
  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   8  (bases 1 to 2185)
  AUTHORS   De Leon,D.D. and Pinney,S.E.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301620
REFERENCE   9  (bases 1 to 2185)
  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 2185)
  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 Nov 22, 2018 this sequence version replaced NM_005515.3.
            
            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, SRR1163655.699827.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252971.11/ ENSP00000252971.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AC006357.5         16314-16323
            11-714              AC006357.5         16324-17027
            715-1684            AF107457.1         589-1558
            1685-2185           AC006357.5         21623-22123
FEATURES             Location/Qualifiers
     source          1..2185
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.3"
     gene            1..2185
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /note="motor neuron and pancreas homeobox 1"
                     /db_xref="GeneID:3110"
                     /db_xref="HGNC:HGNC:4979"
                     /db_xref="MIM:142994"
     exon            1..1004
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             314..1519
                     /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="CCDS:CCDS34788.1"
                     /db_xref="GeneID:3110"
                     /db_xref="HGNC:HGNC:4979"
                     /db_xref="MIM:142994"
                     /translation="MEKSKNFRIDALLAVDPPRAASAQSAPLALVTSLAAAASGTGGG
                     GGGGGASGGTSGSCSPASSEPPAAPADRLRAESPSPPRLLAAHCALLPKPGFLGAGGG
                     GGGTGGGHGGPHHHAHPGAAAAAAAAAAAAAAGGLALGLHPGGAQGGAGLPAQAALYG
                     HPVYGYSAAAAAAALAGQHPALSYSYPQVQGAHPAHPADPIKLGAGTFQLDQWLRAST
                     AGMILPKMPDFNSQAQSNLLGKCRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVAT
                     SLMLTETQVKIWFQNRRMKWKRSKKAKEQAAQEAEKQKGGGGGAGKGGAEEPGAEELL
                     GPPAPGDKGSGRRLRDLRDSDPEEDEDEDDEDHFPYSNGASVHAASSDCSSEDDSPPP
                     RPSHQPAPQ"
     exon            1005..1165
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..2185
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2164..2169
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /note="hexamer: AATAAA"
     polyA_site      2185
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /note="major polyA site"
ORIGIN      
        1 accacggcgg cagcggcctc cgcgcggtcg cctgagggct gcagcgcaaa gaaccgggct
       61 cccgggcccg gacgcgggga agcactcgcg tgggagtttg tgcgagcgcg gcccggggcg
      121 gggcccgcac ggaggaggcg ccgggaccat ggtcaccctc ggctgagttt ccggcggcga
      181 ctttgattat tggcaaataa ccaccataac aataccgagc ccccgggctt gcaccgcacg
      241 cactgactcc gcgagcccgc acacggccgc gtcgcccgcc accgggccct gagcgccagc
      301 cccaaacgag ccgatggaaa aatccaaaaa tttccgcatc gacgccctgc tggcggtgga
      361 ccccccacga gccgcctctg cgcagagcgc gccgctggcc ttggtcacgt cgctcgccgc
      421 cgccgcatct ggcaccggag gtggcggcgg cggcggcggg gcgagcggcg ggactagcgg
      481 cagctgcagc cccgcgtcct cggagccgcc ggctgcgccc gccgaccgcc tgcgcgccga
      541 gagcccgtcg ccgccgcgcc tgctggccgc gcactgcgcg ctgctgccca agccgggctt
      601 cctgggcgcg ggcggcggcg gcggcggcac gggcggcggg cacggggggc cccaccacca
      661 cgcgcatccg ggcgcagcgg ccgctgccgc cgccgccgcc gccgccgccg ccgctggggg
      721 cctggcgctg gggctgcacc ctgggggcgc gcagggcggc gcgggcctcc cggcgcaggc
      781 ggcgctctac ggccacccgg tctacggcta ctccgcggcg gcggcggcgg ctgcgctggc
      841 gggccagcac ccggcgctct cctactcgta cccgcaggtg caaggcgcgc accccgcgca
      901 ccccgccgac cccatcaagc tgggcgccgg caccttccag ctggaccagt ggctgcgcgc
      961 gtccaccgcg ggcatgatcc tgcctaagat gcccgacttc aactcccagg cgcagtcgaa
     1021 cctcctgggg aagtgccgcc ggccgcgcac cgccttcacc agccagcagc tgctggagct
     1081 ggagcaccag ttcaagctca acaagtacct gtcgcggccc aagcgcttcg aggtggccac
     1141 ctcgctcatg ctcaccgaga cccaggtgaa gatttggttc cagaaccggc ggatgaaatg
     1201 gaaacgcagc aaaaaggcca aagagcaggc ggcgcaggaa gcggagaaac agaagggcgg
     1261 cggcgggggc gcggggaagg gcggcgcgga ggagccggga gccgaggagc tgctggggcc
     1321 gccagcgccc ggagacaagg gcagcggacg ccgcctgcgg gacttgaggg acagtgaccc
     1381 cgaggaggac gaggacgagg acgacgagga ccatttcccc tacagcaacg gcgccagcgt
     1441 ccacgccgcc tcctccgact gctcctcgga ggacgactcg ccgcccccgc ggcccagcca
     1501 ccagcccgcg ccccagtagg agccccgcgg cccagcaggt gcggcgcgca cggagcgccc
     1561 cggccggcgg cttctcccgg aggccccggc gcccgcaccc acccggcccg gccccgagag
     1621 caggctcgac cgccgcccca tggacccctc gcccaggccg gggctggagg gattcggccg
     1681 cggctccggt cctgggcgct tcccttttaa gcaagggcgc ctcacctgct cttcaagaaa
     1741 cagcgagagg gagacccagg gggctgaaac ttgaactctg gttcttttaa aattaatttt
     1801 ggttggtgtt gggggaggcg cgagtgcgtg tgagaagaac cgacccaccc cgcgcaaggg
     1861 gaagcctcct gtctcccctt tccccgcgtc cgagaaggcg gaaacccaca gtgttacctg
     1921 acttatgaaa cttgaaaccg cctctggagc cgccattctg cagagtattt ggaaaaagaa
     1981 aaaagggttt atgcttacgt ctctggggtc ggggggatta tgtcacgagc gttcaaactg
     2041 ctggaaatct caaaactgta ctgtctttat ttttgtatat tgtatttata tataaaaaga
     2101 aacgtctacg tatgcatgct aaattattat ttagcttctc ccatcgccca cgatggaatg
     2161 taaaataaat tggttttgta ctgga
//
