LOCUS       NM_031944                699 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens Mix paired-like homeobox (MIXL1), mRNA.
ACCESSION   NM_031944
VERSION     NM_031944.1  GI:13994334
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 699)
  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   2  (bases 1 to 699)
  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   3  (bases 1 to 699)
  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   4  (bases 1 to 699)
  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   5  (bases 1 to 699)
  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   6  (bases 1 to 699)
  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     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF211891.1.
            
            Summary: Homeodomain proteins, such as MIXL1, are transcription
            factors that regulate cell fate during development (Hart et al.,
            2005 [PubMed 15982639]).[supplied by OMIM, Mar 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF211891.1, BC111974.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025085 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.12"
     gene            1..699
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /note="Mix paired-like homeobox"
                     /db_xref="GeneID:83881"
                     /db_xref="HGNC:13363"
                     /db_xref="HPRD:10086"
                     /db_xref="MIM:609852"
     CDS             1..699
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /note="Mix-like homeobox protein 1; hMix; homeodomain
                     protein MIX; mix.1 homeobox-like protein; MIX1
                     homeobox-like protein 1"
                     /codon_start=1
                     /product="homeobox protein MIXL1"
                     /protein_id="NP_114150.1"
                     /db_xref="GI:13994335"
                     /db_xref="CCDS:CCDS1552.1"
                     /db_xref="GeneID:83881"
                     /db_xref="HGNC:13363"
                     /db_xref="HPRD:10086"
                     /db_xref="MIM:609852"
                     /translation="

MATAESRALQFAEGAAFPAYRAPHAGGALLPPPSPAAALLPAPPAGPGPATFAGFLGRDPGPAPPPPASLGSPAPPKGAAAPSASQRRKRTSFSAEQLQLLELVFRRTRYPDIHLRERLAALTLLPESRIQVWFQNRRAKSRRQSGKSFQPLARPEIILNHCAPGTETKCLKPQLPLEVDVNCLPEPNGVGGGISDSSSQGQNFETCSPLSEDIGSKLDSWEEHIFSAFGNF

"
     misc_feature    58..60
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphotyrosine; propagated from
                     UniProtKB/Swiss-Prot (Q9H2W2.1); phosphorylation site"
     misc_feature    259..435
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /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(259..273,277..279,328..330,346..348,385..387,
                     391..396,403..408,412..420,424..429)
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(265..267,274..276,394..396,403..408,415..417)
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     STS             1..699
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /db_xref="UniSTS:480967"
     exon            1..393
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /inference="alignment:Splign:1.39.8"
     variation       282
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367839182"
     variation       285
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371299422"
     variation       304
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:202005618"
     variation       372
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202018885"
     exon            394..699
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /inference="alignment:Splign:1.39.8"
     variation       425
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:145225693"
     variation       465
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371129909"
     variation       487
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375666833"
     variation       494..495
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:36100504"
     variation       498
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150124070"
     variation       503
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368158684"
     variation       520
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:79599422"
     variation       522
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:376164738"
     variation       525
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143213308"
     variation       549
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3738796"
     variation       551
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370499405"
     variation       559
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201172577"
     variation       564
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375201314"
     variation       574
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368040108"
     variation       591
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:114679749"
     variation       600
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200310896"
     variation       625
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151275498"
     variation       628
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:375669537"
     variation       649
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200659360"
     variation       653
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368705607"
     variation       679
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374195143"
     variation       680
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:372262546"
     variation       684
                     /gene="MIXL1"
                     /gene_synonym="MILD1; MIX; MIXL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143393232"
ORIGIN      

atggccacagccgagtcccgtgcgctccagtttgccgagggcgccgcgtttccagcgtaccgggccccccacgccggcggggcgctcctgccgcccccgagccctgcggcagccctgctccctgcgccgcccgcgggccccggcccagcgacctttgcgggcttcctcggccgggaccccgggccggccccgccgccccccgccagcctgggctcgcctgcgccccccaaaggcgcggccgccccgtcggcgtcgcagcgccgcaagcgcacgtctttcagcgccgaacagctgcagctgctggagctcgtcttccgccggacccggtaccccgacatccacttgcgcgagcgcctggccgcgctcaccctgctccccgagtccaggatccaggtatggttccagaacaggcgtgccaagtctcggcgtcagagtgggaaatccttccaacctttggctaggccggagattatcctcaaccactgtgctcctggaactgaaacgaaatgtctgaagccccagctgcctcttgaggtagatgtgaactgcctgcccgaaccaaacggggttggagggggcatctctgactctagctcccaaggtcagaattttgaaacctgttcccctctctctgaagacattggttcaaagctggactcatgggaggaacacatcttttctgcctttggtaacttttga

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:83881 -> Molecular function: GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] evidence: ISS
            GeneID:83881 -> Molecular function: GO:0000980 [RNA polymerase II distal enhancer sequence-specific DNA binding] evidence: ISS
            GeneID:83881 -> Molecular function: GO:0000987 [core promoter proximal region sequence-specific DNA binding] evidence: ISS
            GeneID:83881 -> Molecular function: GO:0001071 [nucleic acid binding transcription factor activity] evidence: ISS
            GeneID:83881 -> Molecular function: GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] evidence: ISS
            GeneID:83881 -> Molecular function: GO:0001085 [RNA polymerase II transcription factor binding] evidence: ISS
            GeneID:83881 -> Molecular function: GO:0001103 [RNA polymerase II repressing transcription factor binding] evidence: IPI
            GeneID:83881 -> Molecular function: GO:0001190 [RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription] evidence: ISS
            GeneID:83881 -> Molecular function: GO:0001205 [RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] evidence: ISS
            GeneID:83881 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: ISS
            GeneID:83881 -> Biological process: GO:0002244 [hematopoietic progenitor cell differentiation] evidence: ISS
            GeneID:83881 -> Biological process: GO:0007369 [gastrulation] evidence: ISS
            GeneID:83881 -> Biological process: GO:0007492 [endoderm development] evidence: ISS
            GeneID:83881 -> Biological process: GO:0007507 [heart development] evidence: ISS
            GeneID:83881 -> Biological process: GO:0035987 [endodermal cell differentiation] evidence: ISS
            GeneID:83881 -> Biological process: GO:0042074 [cell migration involved in gastrulation] evidence: IEA
            GeneID:83881 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: ISS
            GeneID:83881 -> Biological process: GO:0048565 [digestive tract development] evidence: ISS
            GeneID:83881 -> Biological process: GO:1901533 [negative regulation of hematopoietic progenitor cell differentiation] evidence: ISS
            GeneID:83881 -> Biological process: GO:2000382 [positive regulation of mesoderm development] evidence: ISS
            GeneID:83881 -> Cellular component: GO:0000790 [nuclear chromatin] evidence: ISS