LOCUS       NM_006492               1955 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ALX homeobox 3 (ALX3), mRNA.
ACCESSION   NM_006492
VERSION     NM_006492.3
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 1955)
  AUTHORS   Qi,J., Zhou,L., Li,D., Yang,J., Wang,H., Cao,H., Huang,Y.,
            Zhang,Z., Chang,L., Zhu,C., Zhan,J. and Yuan,Y.
  TITLE     Oncogenic role of ALX3 in cervical cancer cells through
            KDM2B-mediated histone demethylation of CDC25A
  JOURNAL   BMC Cancer 21 (1), 819 (2021)
   PUBMED   34266408
  REMARK    GeneRIF: Oncogenic role of ALX3 in cervical cancer cells through
            KDM2B-mediated histone demethylation of CDC25A.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1955)
  AUTHORS   Ullah,A., Umair,M., E-Kalsoom,U., Shahzad,S., Basit,S. and Ahmad,W.
  TITLE     Exome sequencing revealed a novel nonsense variant in ALX3 gene
            underlying frontorhiny
  JOURNAL   J Hum Genet 63 (1), 97-100 (2018)
   PUBMED   29215096
  REMARK    GeneRIF: Genome scan using 250k Nsp1 array followed by exome and
            Sanger sequence analysis revealed a novel homozygous nonsense
            variant (c.604C>T, p.Gln202*) in the ALX3 gene resulting in
            frontorhiny in the family. This is the first mutation in the ALX3
            gene, underlying frontorhiny, in Pakistani population.
REFERENCE   3  (bases 1 to 1955)
  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   4  (bases 1 to 1955)
  AUTHORS   Shin,S.Y., Fauman,E.B., Petersen,A.K., Krumsiek,J., Santos,R.,
            Huang,J., Arnold,M., Erte,I., Forgetta,V., Yang,T.P., Walter,K.,
            Menni,C., Chen,L., Vasquez,L., Valdes,A.M., Hyde,C.L., Wang,V.,
            Ziemek,D., Roberts,P., Xi,L., Grundberg,E., Waldenberger,M.,
            Richards,J.B., Mohney,R.P., Milburn,M.V., John,S.L., Trimmer,J.,
            Theis,F.J., Overington,J.P., Suhre,K., Brosnan,M.J., Gieger,C.,
            Kastenmuller,G., Spector,T.D. and Soranzo,N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   5  (bases 1 to 1955)
  AUTHORS   Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V.,
            Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C.,
            Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F.,
            Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M.,
            Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A.
            and Borecki,I.B.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   6  (bases 1 to 1955)
  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   7  (bases 1 to 1955)
  AUTHORS   Mirasierra,M. and Vallejo,M.
  TITLE     The homeoprotein Alx3 expressed in pancreatic beta-cells regulates
            insulin gene transcription by interacting with the basic
            helix-loop-helix protein E47
  JOURNAL   Mol Endocrinol 20 (11), 2876-2889 (2006)
   PUBMED   16825292
  REMARK    GeneRIF: Alx3 participates in the regulation of insulin gene
            expression in pancreatic beta-cells.
            GeneRIF: Chromatin immunoprecipitation assays indicated that Alx3
            in mouse pancreatic islets occupies the promoter of the mouse
            insulin genes.
REFERENCE   8  (bases 1 to 1955)
  AUTHORS   Perez-Villamil,B., Mirasierra,M. and Vallejo,M.
  TITLE     The homeoprotein Alx3 contains discrete functional domains and
            exhibits cell-specific and selective monomeric binding and
            transactivation
  JOURNAL   J Biol Chem 279 (36), 38062-38071 (2004)
   PUBMED   15226305
  REMARK    GeneRIF: Rat Alx3 undergoes restrictive or permissive interactions
            with nuclear proteins that determine its binding to and
            transactivation from TAAT target sites selected in a cell-specific
            manner.
REFERENCE   9  (bases 1 to 1955)
  AUTHORS   Wimmer,K., Zhu Xx,X.X., Rouillard,J.M., Ambros,P.F., Lamb,B.J.,
            Kuick,R., Eckart,M., Weinhausl,A., Fonatsch,C. and Hanash,S.M.
  TITLE     Combined restriction landmark genomic scanning and virtual genome
            scans identify a novel human homeobox gene, ALX3, that is
            hypermethylated in neuroblastoma
  JOURNAL   Genes Chromosomes Cancer 33 (3), 285-294 (2002)
   PUBMED   11807986
  REMARK    GeneRIF: The lack of a chromosome 1-derived fragment of ALX3 in
            restriction landmark genomic scanning and virtual genome scans of
            neuroblastomas is attributable to hypermethylation.
REFERENCE   10 (bases 1 to 1955)
  AUTHORS   Rudnick,A., Ling,T.Y., Odagiri,H., Rutter,W.J. and German,M.S.
  TITLE     Pancreatic beta cells express a diverse set of homeobox genes
  JOURNAL   Proc Natl Acad Sci U S A 91 (25), 12203-12207 (1994)
   PUBMED   7991607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC113428.1 and AL160006.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 31, 2018 this sequence version replaced NM_006492.2.
            
            Summary: This gene encodes a nuclear protein with a homeobox
            DNA-binding domain that functions as a transcriptional regulator
            involved in cell-type differentiation and development. Preferential
            methylation of this gene's promoter is associated with
            advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul
            2008].
            
            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.
            
            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 :: BC113428.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647563.2/ ENSP00000497310.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1450              BC113428.1         29-1478
            1451-1955           AL160006.16        6207-6711           c
FEATURES             Location/Qualifiers
     source          1..1955
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..1955
                     /gene="ALX3"
                     /gene_synonym="FND; FND1"
                     /note="ALX homeobox 3"
                     /db_xref="GeneID:257"
                     /db_xref="HGNC:HGNC:449"
                     /db_xref="MIM:606014"
     exon            1..337
                     /gene="ALX3"
                     /gene_synonym="FND; FND1"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1092
                     /gene="ALX3"
                     /gene_synonym="FND; FND1"
                     /note="aristaless-like homeobox 3; proline-rich
                     transcription factor ALX3; frontonasal dysplasia"
                     /codon_start=1
                     /product="homeobox protein aristaless-like 3"
                     /protein_id="NP_006483.2"
                     /db_xref="CCDS:CCDS819.1"
                     /db_xref="GeneID:257"
                     /db_xref="HGNC:HGNC:449"
                     /db_xref="MIM:606014"
                     /translation="MDPEHCAPFRVGPAPGPYVASGDEPPGPQGTPAAAPHLHPAPPR
                     GPRLTRFPACGPLEPYLPEPAKPPAKYLQDLGPGPALNGGHFYEGPAEAEEKTSKAAS
                     FPQLPLDCRGGPRDGPSNLQGSPGPCLASLHLPLSPGLPDSMELAKNKSKKRRNRTTF
                     STFQLEELEKVFQKTHYPDVYAREQLALRTDLTEARVQVWFQNRRAKWRKRERYGKIQ
                     EGRNPFTAAYDISVLPRTDSHPQLQNSLWASPGSGSPGGPCLVSPEGIPSPCMSPYSH
                     PHGSVAGFMGVPAPSAAHPGIYSIHGFPPTLGGHSFEPSSDGDYKSPSLVSLRVKPKE
                     PPGLLNWTT"
     exon            338..654
                     /gene="ALX3"
                     /gene_synonym="FND; FND1"
                     /inference="alignment:Splign:2.1.0"
     exon            655..783
                     /gene="ALX3"
                     /gene_synonym="FND; FND1"
                     /inference="alignment:Splign:2.1.0"
     exon            784..1955
                     /gene="ALX3"
                     /gene_synonym="FND; FND1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1808..1813
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALX3"
                     /gene_synonym="FND; FND1"
                     /note="hexamer: AATAAA"
     polyA_site      1832
                     /gene="ALX3"
                     /gene_synonym="FND; FND1"
                     /note="major polyA site"
     regulatory      1931..1936
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALX3"
                     /gene_synonym="FND; FND1"
                     /note="hexamer: AATAAA"
     polyA_site      1955
                     /gene="ALX3"
                     /gene_synonym="FND; FND1"
ORIGIN      
        1 acaggcggcg cgggcagcgc gagccccgga gccccggagg cctgtgcgcc ctgagccggc
       61 atggaccccg agcactgcgc gcctttccgc gtggggcctg cacccggccc ctatgtggcc
      121 tcgggggacg agcctccggg cccgcaggga acccccgccg ctgcgcctca cctgcacccc
      181 gcgccgcccc gcggcccgcg gctgacccgc tttccggcct gcgggcccct ggagccctac
      241 ctcccagagc cggccaagcc gcccgccaag tacctgcagg acctcgggcc cggcccggcc
      301 ctcaacggcg gccacttcta cgagggcccc gcggaagctg aggagaagac ctccaaagct
      361 gccagcttcc cccagctgcc cttggactgc cgagggggcc ccagagacgg gccctctaac
      421 ttgcaaggct ccccaggccc ctgcctggcc agcctgcatc ttcctctttc cccgggactc
      481 cctgactcca tggagttggc caagaacaag agcaagaagc gtcgtaaccg cacgaccttc
      541 agcacattcc agctggagga gctggagaag gtcttccaga aaacccacta tcctgatgtg
      601 tatgcccggg agcagctggc cctgcgcaca gacctgactg aggcccgggt acaggtctgg
      661 ttccagaacc gcagagccaa gtggcggaag cgcgagcgtt atgggaagat ccaggagggg
      721 cggaacccct tcacggctgc ctatgacatc tctgtgctgc cccgtactga cagccaccct
      781 cagctgcaga actccctgtg ggccagtcca ggatctggga gccctggagg cccctgcctt
      841 gtgtctccag agggcatccc ctccccatgc atgtctccat attcccaccc ccatgggagt
      901 gtggctggct tcatgggggt gccagcccct tctgcggctc accctggcat ctactccatc
      961 catggctttc cccccaccct ggggggccac agctttgagc cttcctcaga tggtgactat
     1021 aagtctccaa gcctcgtctc gctcagggta aagcccaagg agccacccgg ccttctgaac
     1081 tggaccacgt gatcggttgc atggacctgc agaatgagct gcccacctct ttttccattc
     1141 ccagtcgctc ccagcccacc tctgcctcca agccccagat ggttctggag gctgcgagag
     1201 cagctggcac tgtcagcccc cagcagggaa cacgttacag ggtcttttct cttagaacaa
     1261 ggtggggctg cctaggagaa ggggcttcga agcagccagg actcttccta ccacaaactg
     1321 agtcccctca cctgaactct gggctggagg cagggagaca ctgccctgct tcctccagac
     1381 tttgtccaag tccattgtca tctctccagc taagacagct tacttggctc atcgttcagg
     1441 gaacccagga aaatgggagg agaacgccgc gtggactgaa gctcttcatg atgagatgga
     1501 aaccaaaagg gagtctccca tgatggggtg gagtcagccc tgcttcccct ccccaccagc
     1561 agggggcgca ctggtgtctg acactaagga gggtgtaaag gccaaggtca gcatagactg
     1621 aggcacactg gctcctcagc tccagccacc ctcactcctg ccatgtgcct gcactcccag
     1681 catgccatgc agtcatcttc ccctccaagg gggcagaaat tccaccagaa atcaccacat
     1741 atttggaatc tcttccacgg gaccagccca gagctatgcc atggaaatga tattggatgt
     1801 tggtaagaat aaaacagatt tctacagact gagatcctga tccccatttt tgtacagaca
     1861 cttttgtgtt ttttttgttt aaaaaaaaaa aaaaggagag agagagaaaa aaaaggctgc
     1921 ccagcattct aataaaggtg gtggtgtttt ttata
//
