LOCUS       NM_002448               1940 bp    mRNA    linear   PRI 08-JUN-2013
DEFINITION  Homo sapiens msh homeobox 1 (MSX1), mRNA.
ACCESSION   NM_002448
VERSION     NM_002448.3  GI:118582283
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 1940)
  AUTHORS   Boeira Junior,B.R. and Echeverrigaray,S.
  TITLE     Polymorphism in the MSX1 gene in a family with upper lateral
            incisor agenesis
  JOURNAL   Arch. Oral Biol. 57 (10), 1423-1428 (2012)
   PUBMED   22591773
  REMARK    GeneRIF: The *6C>T polymorphism, when homozygous, may contribute to
            agenesis of upper lateral incisors.
REFERENCE   2  (bases 1 to 1940)
  AUTHORS   Liang,J., Zhu,L., Meng,L., Chen,D. and Bian,Z.
  TITLE     Novel nonsense mutation in MSX1 causes tooth agenesis with cleft
            lip in a Chinese family
  JOURNAL   Eur. J. Oral Sci. 120 (4), 278-282 (2012)
   PUBMED   22813217
  REMARK    GeneRIF: Findings suggest that the nonsense mutation in MSX1 might
            have resulted in rapid degradation of the mutated transcript and
            caused the phenotype of tooth agenesis with cleft lip in the
            Chinese family.
REFERENCE   3  (bases 1 to 1940)
  AUTHORS   Menezes,M.E., Mitra,A., Shevde,L.A. and Samant,R.S.
  TITLE     DNAJB6 governs a novel regulatory loop determining Wnt/beta-catenin
            signalling activity
  JOURNAL   Biochem. J. 444 (3), 573-580 (2012)
   PUBMED   22455953
  REMARK    GeneRIF: The negative control of beta-catenin/DKK1 feedback loop by
            MSX1 may potentially contribute to excessive stabilization of
            beta-catenin.
REFERENCE   4  (bases 1 to 1940)
  AUTHORS   Mostowska,A., Biedziak,B. and Jagodzinski,P.P.
  TITLE     Novel MSX1 mutation in a family with autosomal-dominant hypodontia
            of second premolars and third molars
  JOURNAL   Arch. Oral Biol. 57 (6), 790-795 (2012)
   PUBMED   22297032
  REMARK    GeneRIF: The novel c.T671C mutation might be the etiological
            variant of the MSX1 gene responsible for the lack of permanent
            teeth in the tested family.
REFERENCE   5  (bases 1 to 1940)
  AUTHORS   Singh,V.P. and Ramu,D.
  TITLE     Association of MSX1 799 G>T variant with nonsyndromic cleft
            lip/palate in South Indian adolescent patients
  JOURNAL   Int J Paediatr Dent 22 (3), 228-231 (2012)
   PUBMED   21972896
  REMARK    GeneRIF: The results showed positive correlation between MSX1 (799
            G>T) gene variant and NSCLP patients. MSX1 (799 G>T) gene variants
            may be a good screening marker for NSCLP.
REFERENCE   6  (bases 1 to 1940)
  AUTHORS   Vastardis,H., Karimbux,N., Guthua,S.W., Seidman,J.G. and
            Seidman,C.E.
  TITLE     A human MSX1 homeodomain missense mutation causes selective tooth
            agenesis
  JOURNAL   Nat. Genet. 13 (4), 417-421 (1996)
   PUBMED   8696335
REFERENCE   7  (bases 1 to 1940)
  AUTHORS   Padanilam,B.J., Stadler,H.S., Mills,K.A., McLeod,L.B., Solursh,M.,
            Lee,B., Ramirez,F., Buetow,K.H. and Murray,J.C.
  TITLE     Characterization of the human HOX 7 cDNA and identification of
            polymorphic markers
  JOURNAL   Hum. Mol. Genet. 1 (6), 407-410 (1992)
   PUBMED   1284527
REFERENCE   8  (bases 1 to 1940)
  AUTHORS   Hewitt,J.E., Clark,L.N., Ivens,A. and Williamson,R.
  TITLE     Structure and sequence of the human homeobox gene HOX7
  JOURNAL   Genomics 11 (3), 670-678 (1991)
   PUBMED   1685479
REFERENCE   9  (bases 1 to 1940)
  AUTHORS   McAlpine,P.J. and Shows,T.B.
  TITLE     Nomenclature for human homeobox genes
  JOURNAL   Genomics 7 (3), 460 (1990)
   PUBMED   1973146
REFERENCE   10 (bases 1 to 1940)
  AUTHORS   Ivens,A., Flavin,N., Williamson,R., Dixon,M., Bates,G.,
            Buckingham,M. and Robert,B.
  TITLE     The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be
            implicated in Wolf-Hirschhorn syndrome
  JOURNAL   Hum. Genet. 84 (5), 473-476 (1990)
   PUBMED   1969845
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU117561.1, BC067353.1 and
            AC092437.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 1, 2006 this sequence version replaced gi:84452152.
            
            Summary: This gene encodes a member of the muscle segment homeobox
            gene family. The encoded protein functions as a transcriptional
            repressor during embryogenesis through interactions with components
            of the core transcription complex and other homeoproteins. It may
            also have roles in limb-pattern formation, craniofacial
            development, particularly odontogenesis, and tumor growth
            inhibition. Mutations in this gene, which was once known as
            homeobox 7, have been associated with nonsyndromic cleft lip with
            or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome,
            and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008].
            
            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 :: M97676.1, BC021285.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-574               AU117561.1         1-574
            575-1585            BC067353.1         335-1345
            1586-1940           AC092437.4         83655-84009
FEATURES             Location/Qualifiers
     source          1..1940
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.2"
     gene            1..1940
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /note="msh homeobox 1"
                     /db_xref="GeneID:4487"
                     /db_xref="HGNC:7391"
                     /db_xref="MIM:142983"
     exon            1..704
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /inference="alignment:Splign:1.39.8"
     variation       218
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186861426"
     variation       220
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:373089119"
     CDS             236..1147
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /note="homeobox 7; msh homeo box 1; homeobox protein
                     Hox-7; msh homeobox 1-like protein; msh homeobox homolog
                     1"
                     /codon_start=1
                     /product="homeobox protein MSX-1"
                     /protein_id="NP_002439.2"
                     /db_xref="GI:118582284"
                     /db_xref="CCDS:CCDS3378.2"
                     /db_xref="GeneID:4487"
                     /db_xref="HGNC:7391"
                     /db_xref="MIM:142983"
                     /translation="

MAPAADMTSLPLGVKVEDSAFGKPAGGGAGQAPSAAAATAAAMGADEEGAKPKVSPSLLPFSVEALMADHRKPGAKESALAPSEGVQAAGGSAQPLGVPPGSLGAPDAPSSPRPLGHFSVGGLLKLPEDALVKAESPEKPERTPWMQSPRFSPPPARRLSPPACTLRKHKTNRKPRTPFTTAQLLALERKFRQKQYLSIAERAEFSSSLSLTETQVKIWFQNRRAKAKRLQEAELEKLKMAAKPMLPPAAFGLSFPLGGPAAVAAAAGASLYGASGPFQRAALPVAPVGLYTAHVGYSMYHLT

"
     misc_feature    752..928
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /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(752..766,770..772,821..823,839..841,878..880,
                     884..889,896..901,905..913,917..922)
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(758..760,767..769,887..889,896..901,908..910)
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       354
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:36059701"
     variation       389
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:10213286"
     variation       435
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:121913130"
     variation       453
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201156596"
     variation       465
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1062592"
     variation       486
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:28928890"
     variation       524
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1062591"
     variation       567
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:104893852"
     variation       583
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34165410"
     variation       600
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:28933081"
     STS             603..1142
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /standard_name="Msx1"
                     /db_xref="UniSTS:532515"
     variation       662
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:369625915"
     variation       671
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:13127820"
     variation       693
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:104893854"
     exon            705..1940
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /inference="alignment:Splign:1.39.8"
     variation       706
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:150284621"
     variation       766
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144660633"
     variation       778
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147849679"
     variation       780
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370243708"
     variation       781
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140353960"
     variation       796
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149960650"
     variation       811
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144984121"
     variation       812
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:104893850"
     variation       816
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149092063"
     variation       840
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:121913129"
     variation       853
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201419918"
     variation       858
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:104893853"
     variation       859
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:369820958"
     variation       864
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143068777"
     variation       913
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138620114"
     variation       969
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201781025"
     variation       973
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374562894"
     variation       989
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140231550"
     variation       1031
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376516578"
     variation       1032
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:371178224"
     variation       1051
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375828884"
     variation       1052
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:184700656"
     variation       1056
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:62636562"
     variation       1063
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376186261"
     variation       1065
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:367573135"
     variation       1078
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371411459"
     variation       1081
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113829749"
     STS             1121..1252
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /standard_name="G62104"
                     /db_xref="UniSTS:139140"
     variation       1151
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376130060"
     variation       1153
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:8670"
     variation       1208
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137940514"
     variation       1215
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1095"
     variation       1217
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2229262"
     variation       1268
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:115200552"
     variation       1277
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35106909"
     STS             1282..1394
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /standard_name="D4S3135"
                     /db_xref="UniSTS:37074"
     variation       1331
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201950865"
     variation       1368
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3111687"
     variation       1420
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35244344"
     variation       1423
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:12532"
     variation       1476
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:35672913"
     variation       1485
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:79767909"
     variation       1496
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2968682"
     variation       1515
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2968683"
     variation       1528
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2933582"
     variation       1532
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:115908415"
     variation       1557..1562
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2933581"
     variation       1569
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace=""
                     /replace="aaa"
                     /replace="aaaaaaa"
                     /replace="aaaaaaaaa"
                     /replace="aaaaaaaaaaaa"
                     /replace="aaaaaaaaaaaaaaaa"
                     /db_xref="dbSNP:34037198"
     variation       1592
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace=""
                     /replace="a"
                     /replace="aaaaaaaaaaaa"
                     /replace="aaaaaaaaaaaaaaaa"
                     /db_xref="dbSNP:33949394"
     variation       1593..1600
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace=""
                     /replace="gaaaagag"
                     /db_xref="dbSNP:368527986"
     variation       1647
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:114279217"
     variation       1694
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190020520"
     variation       1753
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138698654"
     variation       1772
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:372079376"
     variation       1774..1775
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace=""
                     /replace="a"
                     /replace="aa"
                     /db_xref="dbSNP:371693380"
     variation       1774
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:200033995"
     variation       1775
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:33962425"
     variation       1783..1784
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:372146381"
     variation       1785..1786
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:371300142"
     variation       1788..1789
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:375054505"
     variation       1789..1790
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:374804405"
     variation       1790..1791
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:34695096"
     variation       1803
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375940444"
     polyA_signal    1915..1920
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
     polyA_site      1940
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
ORIGIN      

agggcccggagccggcgagtgctcccgggaactctgcctgcgcggcggcagcgaccggaggccaggcccagcacgccggagctggcctgctggggaggggcgggaggcgcgcgcgggagggtccgcccggccagggccccgggcgctcgcagaggccggccgcgctcccagcccgcccggagcccatgcccggcggctggccagtgctgcggcagaagggggggcccggctctgcatggccccggctgctgacatgacttctttgccactcggtgtcaaagtggaggactccgccttcggcaagccggcggggggaggcgcgggccaggcccccagcgccgccgcggccacggcagccgccatgggcgcggacgaggagggggccaagcccaaagtgtccccttcgctcctgcccttcagcgtggaggcgctcatggccgaccacaggaagccgggggccaaggagagcgccctggcgccctccgagggcgtgcaggcggcgggtggctcggcgcagccactgggcgtcccgccggggtcgctgggagccccggacgcgccctcttcgccgcggccgctcggccatttctcggtggggggactcctcaagctgccagaagatgcgctcgtcaaagccgagagccccgagaagcccgagaggaccccgtggatgcagagcccccgcttctccccgccgccggccaggcggctgagccccccagcctgcaccctccgcaaacacaagacgaaccgtaagccgcggacgcccttcaccaccgcgcagctgctggcgctggagcgcaagttccgccagaagcagtacctgtccatcgccgagcgcgcggagttctccagctcgctcagcctcactgagacgcaggtgaagatatggttccagaaccgccgcgccaaggcaaagagactacaagaggcagagctggagaagctgaagatggccgccaagcccatgctgccaccggctgccttcggcctctccttccctctcggcggccccgcagctgtagcggccgcggcgggtgcctcgctctacggtgcctctggccccttccagcgcgccgcgctgcctgtggcgcccgtgggactctacacggcccatgtgggctacagcatgtaccacctgacatagagggtcccaggtcgcccacctgtgggccagccgattcctccagccctggtgctgtacccccgacgtgctcccctgctcggcaccgccagccgccttccctttaaccctcacactgctccagtttcacctctttgctccctgagttcactctccgaagtctgatccctgccaaaaagtggctggaagagtcccttagtactcttctagcatttagatctacactctcgagttaaagatggggaaactgagggcagagaggttaacagatttatctaaggtccccagcagaattgacagttgaacagagctagaggccatgtctcctgcatagcttttccctgtcctgacaccaggcaagaaaagcgcagagaaatcggtgtctgacgattttggaaatgagaacaatctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaagaaaagagaaaaaaaagactagccagccaggaagatgaatcctagcttcttccattggaaaatttaagacaagttcaacaacaaaacatttgctctggggggcagggaaaacacagatgtgttgcaaaggtaggttgaagggacctctctcttaccagtaccagaaacacaattgtaaaattaaaaaaaaaaaaaaactctttctatttaacagtacatttgtgtggctctcaaacatccctttggaagggattgtgtgtactatgtaatatactgtatatttgaaattttattatcatttatattatagctatatttgttaaataaattaattttaagctacaaaaa

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:4487 -> Molecular function: GO:0000982 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:4487 -> Molecular function: GO:0002039 [p53 binding] evidence: IPI
            GeneID:4487 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:4487 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IEA
            GeneID:4487 -> Biological process: GO:0000902 [cell morphogenesis] evidence: IDA
            GeneID:4487 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA
            GeneID:4487 -> Biological process: GO:0003198 [epithelial to mesenchymal transition involved in endocardial cushion formation] evidence: IEA
            GeneID:4487 -> Biological process: GO:0007517 [muscle organ development] evidence: IEA
            GeneID:4487 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: IEA
            GeneID:4487 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA
            GeneID:4487 -> Biological process: GO:0010463 [mesenchymal cell proliferation] evidence: IEA
            GeneID:4487 -> Biological process: GO:0023019 [signal transduction involved in regulation of gene expression] evidence: IEA
            GeneID:4487 -> Biological process: GO:0030262 [apoptotic nuclear changes] evidence: IDA
            GeneID:4487 -> Biological process: GO:0030308 [negative regulation of cell growth] evidence: IDA
            GeneID:4487 -> Biological process: GO:0030513 [positive regulation of BMP signaling pathway] evidence: IEA
            GeneID:4487 -> Biological process: GO:0030900 [forebrain development] evidence: IEA
            GeneID:4487 -> Biological process: GO:0030901 [midbrain development] evidence: IEA
            GeneID:4487 -> Biological process: GO:0034504 [protein localization to nucleus] evidence: IDA
            GeneID:4487 -> Biological process: GO:0035115 [embryonic forelimb morphogenesis] evidence: IEA
            GeneID:4487 -> Biological process: GO:0035116 [embryonic hindlimb morphogenesis] evidence: IEA
            GeneID:4487 -> Biological process: GO:0035880 [embryonic nail plate morphogenesis] evidence: IMP
            GeneID:4487 -> Biological process: GO:0042474 [middle ear morphogenesis] evidence: IEA
            GeneID:4487 -> Biological process: GO:0042475 [odontogenesis of dentin-containing tooth] evidence: IMP
            GeneID:4487 -> Biological process: GO:0042481 [regulation of odontogenesis] evidence: IEA
            GeneID:4487 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IEA
            GeneID:4487 -> Biological process: GO:0043517 [positive regulation of DNA damage response, signal transduction by p53 class mediator] evidence: IC
            GeneID:4487 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
            GeneID:4487 -> Biological process: GO:0050821 [protein stabilization] evidence: IDA
            GeneID:4487 -> Biological process: GO:0051154 [negative regulation of striated muscle cell differentiation] evidence: IEA
            GeneID:4487 -> Biological process: GO:0060021 [palate development] evidence: IEA
            GeneID:4487 -> Biological process: GO:0060325 [face morphogenesis] evidence: IMP
            GeneID:4487 -> Biological process: GO:0060349 [bone morphogenesis] evidence: IEA
            GeneID:4487 -> Biological process: GO:0060536 [cartilage morphogenesis] evidence: IEA
            GeneID:4487 -> Biological process: GO:0061180 [mammary gland epithelium development] evidence: IEA
            GeneID:4487 -> Biological process: GO:0061312 [BMP signaling pathway involved in heart development] evidence: IEA
            GeneID:4487 -> Biological process: GO:1902255 [positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator] evidence: IDA
            GeneID:4487 -> Biological process: GO:2000678 [negative regulation of transcription regulatory region DNA binding] evidence: IEA
            GeneID:4487 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:4487 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA