GGRNA | NM_006492.2

LOCUS       NM_006492               1478 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens ALX homeobox 3 (ALX3), mRNA.
ACCESSION   NM_006492
VERSION     NM_006492.2  GI:113204603
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 1478)
  AUTHORS   Ribeiro-Bicudo,L.A., Quiezi,R.G., Guion-Almeida,M.L., Legnaro,C.
            and Richieri-Costa,A.
  TITLE     Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients
            with the syndrome of frontonasal dysgenesis, callosal agenesis,
            basal encephalocele, and eye anomalies
  JOURNAL   Am. J. Med. Genet. A 158A (5), 1233-1235 (2012)
   PUBMED   22496059
  REMARK    GeneRIF: Exclusion of mutations in ALX3 gene in patients with the
            syndrome of frontonasal dysgenesis, callosal agenesis, basal
            encephalocele, and eye anomalies
REFERENCE   2  (bases 1 to 1478)
  AUTHORS   Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman
            K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman
            AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M,
            Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA and
            Borecki IB.
  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   3  (bases 1 to 1478)
  AUTHORS   Pham,N.S., Rafii,A., Liu,J., Boyadjiev,S.A. and Tollefson,T.T.
  TITLE     Clinical and genetic characterization of frontorhiny: report of 3
            novel cases and discussion of the surgical management
  JOURNAL   Arch Facial Plast Surg 13 (6), 415-420 (2011)
   PUBMED   22106187
  REMARK    GeneRIF: We report a novel Y214X mutation in ALX3 in frontorhiny.
REFERENCE   4  (bases 1 to 1478)
  AUTHORS   Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J.,
            Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S.,
            Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
  TITLE     Maternal genes and facial clefts in offspring: a comprehensive
            search for genetic associations in two population-based cleft
            studies from Scandinavia
  JOURNAL   PLoS ONE 5 (7), E11493 (2010)
   PUBMED   20634891
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1478)
  AUTHORS   Twigg,S.R., Versnel,S.L., Nurnberg,G., Lees,M.M., Bhat,M.,
            Hammond,P., Hennekam,R.C., Hoogeboom,A.J., Hurst,J.A., Johnson,D.,
            Robinson,A.A., Scambler,P.J., Gerrelli,D., Nurnberg,P.,
            Mathijssen,I.M. and Wilkie,A.O.
  TITLE     Frontorhiny, a distinctive presentation of frontonasal dysplasia
            caused by recessive mutations in the ALX3 homeobox gene
  JOURNAL   Am. J. Hum. Genet. 84 (5), 698-705 (2009)
   PUBMED   19409524
  REMARK    GeneRIF: ALX3 is essential for normal facial development in humans
            and that deficiency causes a clinically recognizable phenotype,
            which we term frontorhiny.
REFERENCE   6  (bases 1 to 1478)
  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   7  (bases 1 to 1478)
  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   8  (bases 1 to 1478)
  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   9  (bases 1 to 1478)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 25, 2006 this sequence version replaced gi:5729727.
            
            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].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC113428.1, BC112007.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1478              BC113428.1         1-1478
FEATURES             Location/Qualifiers
     source          1..1478
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..1478
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /note="ALX homeobox 3"
                     /db_xref="GeneID:257"
                     /db_xref="HGNC:449"
                     /db_xref="MIM:606014"
     STS             1..1478
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /db_xref="UniSTS:483167"
     exon            1..365
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    80..82
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /note="upstream in-frame stop codon"
     STS             89..1170
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /db_xref="UniSTS:481725"
     CDS             89..1120
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /note="aristaless-like homeobox 3; proline-rich
                     transcription factor ALX3"
                     /codon_start=1
                     /product="homeobox protein aristaless-like 3"
                     /protein_id="NP_006483.2"
                     /db_xref="GI:113204604"
                     /db_xref="CCDS:CCDS819.1"
                     /db_xref="GeneID:257"
                     /db_xref="HGNC:449"
                     /db_xref="MIM:606014"
                     /translation="

MDPEHCAPFRVGPAPGPYVASGDEPPGPQGTPAAAPHLHPAPPRGPRLTRFPACGPLEPYLPEPAKPPAKYLQDLGPGPALNGGHFYEGPAEAEEKTSKAASFPQLPLDCRGGPRDGPSNLQGSPGPCLASLHLPLSPGLPDSMELAKNKSKKRRNRTTFSTFQLEELEKVFQKTHYPDVYAREQLALRTDLTEARVQVWFQNRRAKWRKRERYGKIQEGRNPFTAAYDISVLPRTDSHPQLQNSLWASPGSGSPGGPCLVSPEGIPSPCMSPYSHPHGSVAGFMGVPAPSAAHPGIYSIHGFPPTLGGHSFEPSSDGDYKSPSLVSLRVKPKEPPGLLNWTT

"
     misc_feature    578..724
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /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(617..619,635..637,674..676,680..685,692..697,
                     701..709,713..718)
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(683..685,692..697,704..706)
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     exon            366..682
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /inference="alignment:Splign:1.39.8"
     STS             368..1120
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /standard_name="Alx3"
                     /db_xref="UniSTS:547182"
     exon            683..811
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /inference="alignment:Splign:1.39.8"
     exon            812..1478
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /inference="alignment:Splign:1.39.8"
     variation       1183
                     /gene="ALX3"
                     /gene_synonym="FND1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201416320"
ORIGIN

ccaggtccctcccccttggcgggcgctcacaggcggcgcgggcagcgcgagccccggagccccggaggcctgtgcgccctgagccggcatggaccccgagcactgcgcgcctttccgcgtggggcctgcacccggcccctatgtggcctcgggggacgagcctccgggcccgcagggaacccccgccgctgcgcctcacctgcaccccgcgccgccccgcggcccgcggctgacccgctttccggcctgcgggcccctggagccctacctcccagagccggccaagccgcccgccaagtacctgcaggacctcgggcccggcccggccctcaacggcggccacttctacgagggccccgcggaagctgaggagaagacctccaaagctgccagcttcccccagctgcccttggactgccgagggggccccagagacgggccctctaacttgcaaggctccccaggcccctgcctggccagcctgcatcttcctctttccccgggactccctgactccatggagttggccaagaacaagagcaagaagcgtcgtaaccgcacgaccttcagcacattccagctggaggagctggagaaggtcttccagaaaacccactatcctgatgtgtatgcccgggagcagctggccctgcgcacagacctgactgaggcccgggtacaggtctggttccagaaccgcagagccaagtggcggaagcgcgagcgttatgggaagatccaggaggggcggaaccccttcacggctgcctatgacatctctgtgctgccccgtactgacagccaccctcagctgcagaactccctgtgggccagtccaggatctgggagccctggaggcccctgccttgtgtctccagagggcatcccctccccatgcatgtctccatattcccacccccatgggagtgtggctggcttcatgggggtgccagccccttctgcggctcaccctggcatctactccatccatggctttccccccaccctggggggccacagctttgagccttcctcagatggtgactataagtctccaagcctcgtctcgctcagggtaaagcccaaggagccacccggccttctgaactggaccacgtgatcggttgcatggacctgcagaatgagctgcccacctctttttccattcccagtcgctcccagcccacctctgcctccaagccccagatggttctggaggctgcgagagcagctggcactgtcagcccccagcagggaacacgttacagggtcttttctcttagaacaaggtggggctgcctaggagaaggggcttcgaagcagccaggactcttcctaccacaaactgagtcccctcacctgaactctgggctggaggcagggagacactgccctgcttcctccagactttgtccaagtccattgtcatctctccagctaagacagcttacttggctcatcgttcagggaacccagga

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