LOCUS       NP_005506                401 aa            linear   PRI 27-APR-2025
DEFINITION  motor neuron and pancreas homeobox protein 1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_005506
VERSION     NP_005506.3
DBSOURCE    REFSEQ: accession 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  (residues 1 to 401)
  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  (residues 1 to 401)
  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  (residues 1 to 401)
  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  (residues 1 to 401)
  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  (residues 1 to 401)
  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  (residues 1 to 401)
  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  (residues 1 to 401)
  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  (residues 1 to 401)
  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  (residues 1 to 401)
  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 (residues 1 to 401)
  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 NP_005506.2.
            
            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##
FEATURES             Location/Qualifiers
     source          1..401
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.3"
     Protein         1..401
                     /product="motor neuron and pancreas homeobox protein 1
                     isoform 1"
                     /note="homeobox HB9; motor neuron and pancreas homeobox
                     protein 1; homeobox protein HB9"
                     /calculated_mol_wt=40438
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P50219.3)"
     Region          37..78
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P50219.3)"
     Site            77
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P50219.3)"
     Site            79
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P50219.3)"
     Region          101..120
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P50219.3)"
     Region          242..298
                     /region_name="Homeodomain"
                     /note="pfam00046"
                     /db_xref="CDD:459649"
     Region          299..401
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P50219.3)"
     CDS             1..401
                     /gene="MNX1"
                     /gene_synonym="HB9; HLXB9; HOXHB9; SCRA1"
                     /coded_by="NM_005515.4:314..1519"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS34788.1"
                     /db_xref="GeneID:3110"
                     /db_xref="HGNC:HGNC:4979"
                     /db_xref="MIM:142994"
ORIGIN      
        1 meksknfrid allavdppra asaqsaplal vtslaaaasg tgggggggga sggtsgscsp
       61 asseppaapa drlraespsp prllaahcal lpkpgflgag gggggtgggh ggphhhahpg
      121 aaaaaaaaaa aaaagglalg lhpggaqgga glpaqaalyg hpvygysaaa aaaalagqhp
      181 alsysypqvq gahpahpadp iklgagtfql dqwlrastag milpkmpdfn sqaqsnllgk
      241 crrprtafts qqllelehqf klnkylsrpk rfevatslml tetqvkiwfq nrrmkwkrsk
      301 kakeqaaqea ekqkggggga gkggaeepga eellgppapg dkgsgrrlrd lrdsdpeede
      361 deddedhfpy sngasvhaas sdcsseddsp pprpshqpap q
//
