LOCUS       NM_031944               1965 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens Mix paired-like homeobox (MIXL1), transcript variant
            2, mRNA.
ACCESSION   NM_031944
VERSION     NM_031944.3
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 1965)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (bases 1 to 1965)
  AUTHORS   Choi,S.C., Choi,J.H., Cui,L.H., Seo,H.R., Kim,J.H., Park,C.Y.,
            Joo,H.J., Park,J.H., Hong,S.J., Yu,C.W. and Lim,D.S.
  TITLE     Mixl1 and Flk1 Are Key Players of Wnt/TGF-beta Signaling During
            DMSO-Induced Mesodermal Specification in P19 cells
  JOURNAL   J Cell Physiol 230 (8), 1807-1821 (2015)
   PUBMED   25521758
  REMARK    GeneRIF: results demonstrate that Mixl1 and Flk1 play
            roles...during dimethyl sulfoxide-induced mesodermal specification
            in P19 cells.
REFERENCE   3  (bases 1 to 1965)
  AUTHORS   Raymond,A., Liu,B., Liang,H., Wei,C., Guindani,M., Lu,Y., Liang,S.,
            St John,L.S., Molldrem,J. and Nagarajan,L.
  TITLE     A role for BMP-induced homeobox gene MIXL1 in acute myelogenous
            leukemia and identification of type I BMP receptor as a potential
            target for therapy
  JOURNAL   Oncotarget 5 (24), 12675-12693 (2014)
   PUBMED   25544748
  REMARK    GeneRIF: Findings support the existence of a novel MIXL1-c REL
            mediated survival axis in AML that can be targeted by BMPR1
            inhibitors. (MIXL1- human gene, Mixl1- mouse ortholog, MIXL1-
            protein).
REFERENCE   4  (bases 1 to 1965)
  AUTHORS   Pereira,L.A., Wong,M.S., Lim,S.M., Sides,A., Stanley,E.G. and
            Elefanty,A.G.
  TITLE     Brachyury and related Tbx proteins interact with the Mixl1
            homeodomain protein and negatively regulate Mixl1 transcriptional
            activity
  JOURNAL   PLoS One 6 (12), e28394 (2011)
   PUBMED   22164283
  REMARK    GeneRIF: Brachyury and related Tbx proteins interact with the Mixl1
            homeodomain protein and negatively regulate Mixl1 transcriptional
            activity
REFERENCE   5  (bases 1 to 1965)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   6  (bases 1 to 1965)
  AUTHORS   Davis,R.P., Ng,E.S., Costa,M., Mossman,A.K., Sourris,K.,
            Elefanty,A.G. and Stanley,E.G.
  TITLE     Targeting a GFP reporter gene to the MIXL1 locus of human embryonic
            stem cells identifies human primitive streak-like cells and enables
            isolation of primitive hematopoietic precursors
  JOURNAL   Blood 111 (4), 1876-1884 (2008)
   PUBMED   18032708
  REMARK    GeneRIF: Targeted insertion in human embryonic stem cells of
            sequences encoding green fluorescent protein (GFP) into the locus
            of MIXL1, a gene transiently expressed in the primitive streak
            during embryogenesis.
REFERENCE   7  (bases 1 to 1965)
  AUTHORS   Drakos,E., Rassidakis,G.Z., Leventaki,V., Guo,W., Medeiros,L.J. and
            Nagarajan,L.
  TITLE     Differential expression of the human MIXL1 gene product in
            non-Hodgkin and Hodgkin lymphomas
  JOURNAL   Hum Pathol 38 (3), 500-507 (2007)
   PUBMED   17303500
  REMARK    GeneRIF: MIXL1 protein is differentially expressed in non-Hodgkin
            lymphoma and Hodgkin lymphoma; findings suggest that MIXL1
            overexpression may play a role in driving proliferatin or blocking
            differentiation in lymphoma oncogenesis
REFERENCE   8  (bases 1 to 1965)
  AUTHORS   Hart,A.H., Willson,T.A., Wong,M., Parker,K. and Robb,L.
  TITLE     Transcriptional regulation of the homeobox gene Mixl1 by TGF-beta
            and FoxH1
  JOURNAL   Biochem Biophys Res Commun 333 (4), 1361-1369 (2005)
   PUBMED   15982639
  REMARK    GeneRIF: These results demonstrate for a functional role for
            TGF-beta ligands in regulation of mammalian Mixl1, identify FoxH1
            as an essential co-activator, and implicate Nodal as the embryonic
            regulator of Mixl1 in mesendoderm morphogenesis.
REFERENCE   9  (bases 1 to 1965)
  AUTHORS   Guo,W., Chan,A.P., Liang,H., Wieder,E.D., Molldrem,J.J., Etkin,L.D.
            and Nagarajan,L.
  TITLE     A human Mix-like homeobox gene MIXL shows functional similarity to
            Xenopus Mix.1
  JOURNAL   Blood 100 (1), 89-95 (2002)
   PUBMED   12070013
  REMARK    GeneRIF: shows functional similarity to Xenopus Mix.1
REFERENCE   10 (bases 1 to 1965)
  AUTHORS   Sahr,K., Dias,D.C., Sanchez,R., Chen,D., Chen,S.W., Gudas,L.J. and
            Baron,M.H.
  TITLE     Structure, upstream promoter region, and functional domains of a
            mouse and human Mix paired-like homeobox gene
  JOURNAL   Gene 291 (1-2), 135-147 (2002)
   PUBMED   12095687
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC111974.1, AL592045.28 and CX165667.1.
            
            On Jun 2, 2019 this sequence version replaced NM_031944.2.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. This
            results in a shorter protein (isoform 2), compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3034628.1,
                                           SRR14038194.2816606.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366810.6/ ENSP00000355775.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-770               BC111974.1         47-816
            771-1605            AL592045.28        98033-98867
            1606-1960           CX165667.1         19-373              c
            1961-1965           AL592045.28        99223-99227
FEATURES             Location/Qualifiers
     source          1..1965
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.12"
     gene            1..1965
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /note="Mix paired-like homeobox"
                     /db_xref="GeneID:83881"
                     /db_xref="HGNC:HGNC:13363"
                     /db_xref="MIM:609852"
     exon            1..411
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /inference="alignment:Splign:2.1.0"
     CDS             19..717
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /note="isoform 2 is encoded by transcript variant 2;
                     Mix-like homeobox protein 1; homeobox protein MIXL1;
                     homeodomain protein MIX; mix.1 homeobox-like protein; MIX1
                     homeobox-like protein 1"
                     /codon_start=1
                     /product="homeobox protein MIXL1 isoform 2"
                     /protein_id="NP_114150.1"
                     /db_xref="CCDS:CCDS1552.1"
                     /db_xref="GeneID:83881"
                     /db_xref="HGNC:HGNC:13363"
                     /db_xref="MIM:609852"
                     /translation="MATAESRALQFAEGAAFPAYRAPHAGGALLPPPSPAAALLPAPP
                     AGPGPATFAGFLGRDPGPAPPPPASLGSPAPPKGAAAPSASQRRKRTSFSAEQLQLLE
                     LVFRRTRYPDIHLRERLAALTLLPESRIQVWFQNRRAKSRRQSGKSFQPLARPEIILN
                     HCAPGTETKCLKPQLPLEVDVNCLPEPNGVGGGISDSSSQGQNFETCSPLSEDIGSKL
                     DSWEEHIFSAFGNF"
     exon            412..1965
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1939..1944
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /note="hexamer: ATTAAA"
     polyA_site      1965
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /note="major polyA site"
ORIGIN      
        1 gcgctgggtt ccggagcgat ggccacagcc gagtcccgtg cgctccagtt tgccgagggc
       61 gccgcgtttc cagcgtaccg ggccccccac gccggcgggg cgctcctgcc gcccccgagc
      121 cctgcggcag ccctgctccc tgcgccgccc gcgggccccg gcccagcgac ctttgcgggc
      181 ttcctcggcc gggaccccgg gccggccccg ccgccccccg ccagcctggg ctcgcctgcg
      241 ccccccaaag gcgcggccgc cccgtcggcg tcgcagcgcc gcaagcgcac gtctttcagc
      301 gccgaacagc tgcagctgct ggagctcgtc ttccgccgga cccggtaccc cgacatccac
      361 ttgcgcgagc gcctggccgc gctcaccctg ctccccgagt ccaggatcca ggtatggttc
      421 cagaacaggc gtgccaagtc tcggcgtcag agtgggaaat ccttccaacc tttggctagg
      481 ccggagatta tcctcaacca ctgtgctcct ggaactgaaa cgaaatgtct gaagccccag
      541 ctgcctcttg aggtagatgt gaactgcctg cccgaaccaa acggggttgg agggggcatc
      601 tctgactcta gctcccaagg tcagaatttt gaaacctgtt cccctctctc tgaagacatt
      661 ggttcaaagc tggactcatg ggaggaacac atcttttctg cctttggtaa cttttgagga
      721 ttctgggaga attcgggata agctctgagg agccatgact gacagcctgg gagagacaca
      781 tcagcatact gtcctttctg acttccatgc taaggacatg tccttgttaa ccttgatgat
      841 ggttttgaca gcacctctca catttgaagg taccccgcca ctttgtcaat gacgttttaa
      901 gcccacactc ccaccccaga gttcccgcat tcgtttttac ctgtgttctc tccaagcctg
      961 cacattccat tggtctgcat ccctatgcct tcttgccagg cctgttttta gtttttggac
     1021 tggttgttca gaactcatta ttttcttcac aagaatgcct cagcttgact cagtttcccc
     1081 ttgtgtttga cagctgccat tttctcctgg tccctccaag gcttataatc ttaaagtcac
     1141 tctaccccgt ctcttcaacc ctcatcctag gtttattact ttttaaaatt gggcctgtca
     1201 tcttcacgtt caatcatagc tccaatgact ctgcatgcag attatttcga cagccccctt
     1261 gcctctagct tctcaactac ttaaaaaaaa ttaccctctg tgggccaggt gcagtggctc
     1321 actcctgcaa tctcagcact ttgggaggcc gagtgggtgg atcacctgaa gtcaggagtt
     1381 caagaccagc ctggccaata tggcgaaacc ccatctctgc taaaaatata aaacttagct
     1441 gggcacggtg acgggagcct gtagtcccag ctactcagga ggctgaggca ggagaatcac
     1501 ttgagcctgg gaggtggagg ttgcagtgat ctaagatcgt gccactgcac ttcagcctgg
     1561 gagacagagg gaggctctca aaaaaaaaaa aaaaaaaaaa aaaaattact ctatggttct
     1621 gtggtagcct ccagttgcta ccaaattata aaaagctttc agttaccctc ccagataact
     1681 gatatcatcc ttagcctgca ggacagctat gcaaatctga aggtcaacta tccacaatat
     1741 atgctttggt cttaaagtca ctcctttcag ttttgaacca aattcatacc ttttgctttc
     1801 aaaacactcg aggactcccc acctgccttc tgaagtctga aattttctct aagtaatcct
     1861 gattttgcac ctgttacttc gatcactcca ttacccttag cacttgttat tgtacttcct
     1921 gtgcaagttt tgtggattat taaatgtctt tcacaaatgt tccaa
//
