LOCUS       NM_002448               1940 bp    mRNA    linear   PRI 06-DEC-2024
DEFINITION  Homo sapiens msh homeobox 1 (MSX1), mRNA.
ACCESSION   NM_002448
VERSION     NM_002448.3
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 1940)
  AUTHORS   Wang,Y.L., Chu,K.Y., Hsieh,T.F., Yao,C.J., Lin,C.H., Lee,Z.H. and
            Wang,S.K.
  TITLE     Orodental malformations associated with human MSX1 sequence
            variants
  JOURNAL   J Am Dent Assoc 155 (6), 484-495 (2024)
   PUBMED   38713117
  REMARK    GeneRIF: Orodental malformations associated with human MSX1
            sequence variants.
REFERENCE   2  (bases 1 to 1940)
  AUTHORS   Shen,Z., Zhang,S., Gao,Z., Yu,X., Wang,J., Pan,S., Kang,N., Liu,N.,
            Xu,H., Liu,M., Yang,Y., Deng,Q., Liu,J., Xie,Y. and Zhang,J.
  TITLE     Intrahepatic homeobox protein MSX-1 is a novel host restriction
            factor of hepatitis B virus
  JOURNAL   J Virol 98 (2), e0134523 (2024)
   PUBMED   38226815
  REMARK    GeneRIF: Intrahepatic homeobox protein MSX-1 is a novel host
            restriction factor of hepatitis B virus.
REFERENCE   3  (bases 1 to 1940)
  AUTHORS   Zhao,Y., Ren,J., Meng,L., Hou,Y., Liu,C., Zhang,G. and Shen,W.
  TITLE     Characterization of novel MSX1 variants causally associated with
            non-syndromic oligodontia in Chinese families
  JOURNAL   Mol Genet Genomic Med 12 (1), e2334 (2024)
   PUBMED   38069551
  REMARK    GeneRIF: Characterization of novel MSX1 variants causally
            associated with non-syndromic oligodontia in Chinese families.
REFERENCE   4  (bases 1 to 1940)
  AUTHORS   Zhu,Y., Zhang,Y., Dong,J., Ruan,W., Yang,S., Huang,P. and Duan,X.
  TITLE     MSX1 involved selective tooth agenesis and abnormal labial frenum,
            pedigree, and retrospective study
  JOURNAL   Oral Dis 29 (8), 3168-3172 (2023)
   PUBMED   36478500
  REMARK    GeneRIF: MSX1 involved selective tooth agenesis and abnormal labial
            frenum, pedigree, and retrospective study.
REFERENCE   5  (bases 1 to 1940)
  AUTHORS   Eppich,S., Kuhn,C., Schmoeckel,E., Mayr,D., Mahner,S., Jeschke,U.,
            Gallwas,J. and Heidegger,H.H.
  TITLE     MSX1-expression during the different phases in healthy human
            endometrium
  JOURNAL   Arch Gynecol Obstet 308 (1), 273-279 (2023)
   PUBMED   37101223
  REMARK    GeneRIF: MSX1-expression during the different phases in healthy
            human endometrium.
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 NM_002448.2.
            
            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
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382723.5/ ENSP00000372170.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-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:HGNC:7391"
                     /db_xref="MIM:142983"
     exon            1..704
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /inference="alignment:Splign:2.1.0"
     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="CCDS:CCDS3378.2"
                     /db_xref="GeneID:4487"
                     /db_xref="HGNC:HGNC:7391"
                     /db_xref="MIM:142983"
                     /translation="MAPAADMTSLPLGVKVEDSAFGKPAGGGAGQAPSAAAATAAAMG
                     ADEEGAKPKVSPSLLPFSVEALMADHRKPGAKESALAPSEGVQAAGGSAQPLGVPPGS
                     LGAPDAPSSPRPLGHFSVGGLLKLPEDALVKAESPEKPERTPWMQSPRFSPPPARRLS
                     PPACTLRKHKTNRKPRTPFTTAQLLALERKFRQKQYLSIAERAEFSSSLSLTETQVKI
                     WFQNRRAKAKRLQEAELEKLKMAAKPMLPPAAFGLSFPLGGPAAVAAAAGASLYGASG
                     PFQRAALPVAPVGLYTAHVGYSMYHLT"
     exon            705..1940
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1915..1920
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /note="hexamer: AATAAA"
     polyA_site      1940
                     /gene="MSX1"
                     /gene_synonym="ECTD3; HOX7; HYD1; STHAG1"
                     /note="major polyA site"
ORIGIN      
        1 agggcccgga gccggcgagt gctcccggga actctgcctg cgcggcggca gcgaccggag
       61 gccaggccca gcacgccgga gctggcctgc tggggagggg cgggaggcgc gcgcgggagg
      121 gtccgcccgg ccagggcccc gggcgctcgc agaggccggc cgcgctccca gcccgcccgg
      181 agcccatgcc cggcggctgg ccagtgctgc ggcagaaggg ggggcccggc tctgcatggc
      241 cccggctgct gacatgactt ctttgccact cggtgtcaaa gtggaggact ccgccttcgg
      301 caagccggcg gggggaggcg cgggccaggc ccccagcgcc gccgcggcca cggcagccgc
      361 catgggcgcg gacgaggagg gggccaagcc caaagtgtcc ccttcgctcc tgcccttcag
      421 cgtggaggcg ctcatggccg accacaggaa gccgggggcc aaggagagcg ccctggcgcc
      481 ctccgagggc gtgcaggcgg cgggtggctc ggcgcagcca ctgggcgtcc cgccggggtc
      541 gctgggagcc ccggacgcgc cctcttcgcc gcggccgctc ggccatttct cggtgggggg
      601 actcctcaag ctgccagaag atgcgctcgt caaagccgag agccccgaga agcccgagag
      661 gaccccgtgg atgcagagcc cccgcttctc cccgccgccg gccaggcggc tgagcccccc
      721 agcctgcacc ctccgcaaac acaagacgaa ccgtaagccg cggacgccct tcaccaccgc
      781 gcagctgctg gcgctggagc gcaagttccg ccagaagcag tacctgtcca tcgccgagcg
      841 cgcggagttc tccagctcgc tcagcctcac tgagacgcag gtgaagatat ggttccagaa
      901 ccgccgcgcc aaggcaaaga gactacaaga ggcagagctg gagaagctga agatggccgc
      961 caagcccatg ctgccaccgg ctgccttcgg cctctccttc cctctcggcg gccccgcagc
     1021 tgtagcggcc gcggcgggtg cctcgctcta cggtgcctct ggccccttcc agcgcgccgc
     1081 gctgcctgtg gcgcccgtgg gactctacac ggcccatgtg ggctacagca tgtaccacct
     1141 gacatagagg gtcccaggtc gcccacctgt gggccagccg attcctccag ccctggtgct
     1201 gtacccccga cgtgctcccc tgctcggcac cgccagccgc cttcccttta accctcacac
     1261 tgctccagtt tcacctcttt gctccctgag ttcactctcc gaagtctgat ccctgccaaa
     1321 aagtggctgg aagagtccct tagtactctt ctagcattta gatctacact ctcgagttaa
     1381 agatggggaa actgagggca gagaggttaa cagatttatc taaggtcccc agcagaattg
     1441 acagttgaac agagctagag gccatgtctc ctgcatagct tttccctgtc ctgacaccag
     1501 gcaagaaaag cgcagagaaa tcggtgtctg acgattttgg aaatgagaac aatctcaaaa
     1561 aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aagaaaagag aaaaaaaaga ctagccagcc
     1621 aggaagatga atcctagctt cttccattgg aaaatttaag acaagttcaa caacaaaaca
     1681 tttgctctgg ggggcaggga aaacacagat gtgttgcaaa ggtaggttga agggacctct
     1741 ctcttaccag taccagaaac acaattgtaa aattaaaaaa aaaaaaaaac tctttctatt
     1801 taacagtaca tttgtgtggc tctcaaacat ccctttggaa gggattgtgt gtactatgta
     1861 atatactgta tatttgaaat tttattatca tttatattat agctatattt gttaaataaa
     1921 ttaattttaa gctacaaaaa
//
