GGRNA | NM_139058.2

LOCUS       NM_139058               2885 bp    mRNA    linear   PRI 01-JUL-2013
DEFINITION  Homo sapiens aristaless related homeobox (ARX), mRNA.
ACCESSION   NM_139058
VERSION     NM_139058.2  GI:169790795
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 2885)
  AUTHORS   Shoubridge,C., Gardner,A., Schwartz,C.E., Hackett,A., Field,M. and
            Gecz,J.
  TITLE     Is there a Mendelian transmission ratio distortion of the
            c.429_452dup(24bp) polyalanine tract ARX mutation?
  JOURNAL   Eur. J. Hum. Genet. 20 (12), 1311-1314 (2012)
   PUBMED   22490986
  REMARK    GeneRIF: We found a significant deviation from the expected
            Mendelian 1:1 ratio of transmission in favour of the c.429_452dup
            ARX mutation.
REFERENCE   2  (bases 1 to 2885)
  AUTHORS   Olivetti,P.R. and Noebels,J.L.
  TITLE     Interneuron, interrupted: molecular pathogenesis of ARX mutations
            and X-linked infantile spasms
  JOURNAL   Curr. Opin. Neurobiol. 22 (5), 859-865 (2012)
   PUBMED   22565167
  REMARK    GeneRIF: A spectrum of mutations in the Aristaless-Related Homeobox
            gene (ARX) has been linked to -linked Infantile Spasms Syndrome.
            Review article
REFERENCE   3  (bases 1 to 2885)
  AUTHORS   Kuwaik,G.A., Saldivar,J.S. and Yoon,G.
  TITLE     Novel mutation in ARX associated with early hand preference and a
            mild phenotype
  JOURNAL   J Dev Behav Pediatr 33 (7), 586-588 (2012)
   PUBMED   22922607
  REMARK    GeneRIF: Novel ARX mutation in 3 brothers associates with mild
            developmental delay and early hand preference.
REFERENCE   4  (bases 1 to 2885)
  AUTHORS   Abedini,S.S., Kahrizi,K., Behjati,F., Banihashemi,S., Ghasemi
            Firoozabadi,S. and Najmabadi,H.
  TITLE     Mutational screening of ARX gene in Iranian families with X-linked
            intellectual disability
  JOURNAL   Arch Iran Med 15 (6), 361-365 (2012)
   PUBMED   22642246
  REMARK    GeneRIF: The authors suggest that molecular analysis of ARX
            mutations as a second cause of X-linked intellectual disability
            (XLID) should be considered as a routine diagnostic procedure in
            any male who presents with either nonsyndromic or syndromic XLID.
REFERENCE   5  (bases 1 to 2885)
  AUTHORS   Arikan,Y., Bilgen,T., Koken,R., Turan,S., Mihci,E. and Keser,I.
  TITLE     C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish
            family
  JOURNAL   Genet. Couns. 23 (3), 367-373 (2012)
   PUBMED   23072184
  REMARK    GeneRIF: One patient in a Turkish family representing non-syndromic
            X-linked mental retardation shows an abnormal band pattern on
            agarose gel; sequence analysis of exon 2 of ARX reveals that the
            patient has the c.428_451 dup(24bp) mutation.
REFERENCE   6  (bases 1 to 2885)
  AUTHORS   Jemaa,L.B., des Portes,V., Zemni,R., Mrad,R., Maazoul,F.,
            Beldjord,C., Chaabouni,H. and Chelly,J.
  TITLE     Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific
            X-linked mental retardation gene (MRX54)
  JOURNAL   Am. J. Med. Genet. 85 (3), 276-282 (1999)
   PUBMED   10398243
REFERENCE   7  (bases 1 to 2885)
  AUTHORS   Hane,B., Schroer,R.J., Arena,J.F., Lubs,H.A., Schwartz,C.E. and
            Stevenson,R.E.
  TITLE     Nonsyndromic X-linked mental retardation: review and mapping of
            MRX29 to Xp21
  JOURNAL   Clin. Genet. 50 (4), 176-183 (1996)
   PUBMED   9001795
  REMARK    Review article
REFERENCE   8  (bases 1 to 2885)
  AUTHORS   Claes,S., Gu,X.X., Legius,E., Lorenzetti,E., Marynen,P.,
            Fryns,J.P., Cassiman,J.J. and Raeymaekers,P.
  TITLE     Linkage analysis in three families with nonspecific X-linked mental
            retardation
  JOURNAL   Am. J. Med. Genet. 64 (1), 137-146 (1996)
   PUBMED   8826464
REFERENCE   9  (bases 1 to 2885)
  AUTHORS   Holinski-Feder,E., Golla,A., Rost,I., Seidel,H., Rittinger,O. and
            Meindl,A.
  TITLE     Regional localization of two MRX genes to Xq28 (MRX28) and to
            Xp11.4-Xp22.12 (MRX33)
  JOURNAL   Am. J. Med. Genet. 64 (1), 125-130 (1996)
   PUBMED   8826462
REFERENCE   10 (bases 1 to 2885)
  AUTHORS   Schutz,C.K., Ives,E.J., Chalifoux,M., MacLaren,L., Farrell,S.,
            Robinson,P.D., White,B.N. and Holden,J.J.
  TITLE     Regional localization of an X-linked mental retardation gene to
            Xp21.1-Xp22.13 (MRX38)
  JOURNAL   Am. J. Med. Genet. 64 (1), 89-96 (1996)
   PUBMED   8826457
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ100952.1, AY038071.1,
            CA775911.1, BF196892.1 and AA484051.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 12, 2008 this sequence version replaced gi:24497588.
            
            Summary: This gene is a homeobox-containing gene expressed during
            development. The expressed protein contains two conserved domains,
            a C-peptide (or aristaless domain) and the prd-like class homeobox
            domain. It is a member of the group-II aristaless-related protein
            family whose members are expressed primarily in the central and/or
            peripheral nervous system. This gene is thought to be involved in
            CNS development. Mutations in this gene cause X-linked mental
            retardation and epilepsy. [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 :: AY038071.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025086 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-211               BQ100952.1         1-211
            212-1897            AY038071.1         1-1686
            1898-2429           CA775911.1         77-608
            2430-2581           BF196892.1         125-276
            2582-2885           AA484051.1         132-435
FEATURES             Location/Qualifiers
     source          1..2885
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.3"
     gene            1..2885
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /note="aristaless related homeobox"
                     /db_xref="GeneID:170302"
                     /db_xref="HGNC:18060"
                     /db_xref="HPRD:02307"
                     /db_xref="MIM:300382"
     exon            1..407
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /inference="alignment:Splign:1.39.8"
     CDS             212..1900
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /note="cancer/testis antigen 121; aristaless-related
                     homeobox, X-linked"
                     /codon_start=1
                     /product="homeobox protein ARX"
                     /protein_id="NP_620689.1"
                     /db_xref="GI:24497589"
                     /db_xref="CCDS:CCDS14215.1"
                     /db_xref="GeneID:170302"
                     /db_xref="HGNC:18060"
                     /db_xref="HPRD:02307"
                     /db_xref="MIM:300382"
                     /translation="

MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKSSSAPFEAELHLPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLKISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEEEELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPFPGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPAFGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKEVC

"
     misc_feature    1196..1372
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /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(1196..1210,1214..1216,1265..1267,1283..1285,
                     1322..1324,1328..1333,1340..1345,1349..1357,1361..1366)
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(1202..1204,1211..1213,1331..1333,1340..1345,
                     1352..1354)
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     misc_feature    1799..1840
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QS3.1);
                     Region: OAR"
     exon            408..1284
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /inference="alignment:Splign:1.39.8"
     exon            1285..1330
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /inference="alignment:Splign:1.39.8"
     exon            1331..1659
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /inference="alignment:Splign:1.39.8"
     exon            1660..2876
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /inference="alignment:Splign:1.39.8"
     STS             1951..2848
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /standard_name="Arx"
                     /db_xref="UniSTS:506739"
     STS             2426..2848
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /standard_name="Arx"
                     /db_xref="UniSTS:532310"
     STS             2651..2849
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /standard_name="RH128932"
                     /db_xref="UniSTS:212240"
     variation       2843
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373745386"
     polyA_signal    2850..2855
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
     polyA_site      2876
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
ORIGIN

ttgtcctgagcgcggagagggcgagctcgggccgcgggcagggcgggagccggcagccggcaaccaagggaggcagaaaggcacaaagatcgcaataatatccgttataacccgctatctaaccccacccccaacacacacccatccatcccaccctccgggagaggcagccggcgatccgctctctgcgccctgggaaaaagccccagccatgagcaatcagtaccaggaggagggctgctccgagaggcccgagtgcaaaagtaaatctccaactttgctctcctcctactgcatcgacagcatcctgggccggaggagcccgtgcaaaatgcggttgctgggagccgcgcagagcttgcctgctccgctgaccagccgcgccgacccggaaaaggccgtgcaaggctcccctaagagcagcagcgccccgttcgaggccgagctgcacctgccgcccaagctgcggcgcctgtacggcccgggcgggggccgcctccttcagggtgcggcagcggcggcggcggcggcggcggcggcggcggcagcggccgccacggccacggcgggtccacgcggggaggcccctccgccgccaccgccaaccgcgcggcccggggaacggccggacggcgcaggggccgccgcggcagccgcggccgcggccgccgcggcctgggacacgctcaagatcagccaggcgccgcaggtgagcatcagccgcagcaagtcgtaccgcgagaacggggcgcccttcgtgccgccgccgcccgcgctggacgagctgggcggcccggggggcgtcacgcacccggaggagcgcctcggcgtggccggcggcccgggcagcgccccggctgcgggtggtggcaccggcaccgaggacgacgaggaggagctgctggaggacgaagaagatgaggacgaggaagaggaactgctggaggacgacgaggaggagctgctggaggacgacgcccgcgcgctgctcaaggagccccggcgctgtcctgtggccgccactggcgccgtggccgcagcagctgccgctgcagtggccacagagggcggggagctgtcacccaaggaggagctgctgctgcacccggaagacgctgagggcaaggacggcgaggacagcgtgtgcctctctgcgggcagcgactcggaggaggggctgctgaaacgcaaacagaggcgctaccgcaccacgttcaccagctaccagctggaggaactggagcgggccttccagaagacgcactacccggacgtcttcaccagggaggaactggccatgaggctggacttgaccgaggcccgagtccaggtctggttccagaaccgtcgggccaagtggcgcaagcgggagaaggcaggcgcgcagacccacccccctgggctgcccttcccggggccgctctccgccacccacccgctcagcccctacctggacgccagccccttccctccgcaccacccggcgctcgactccgcttggactgccgctgccgccgccgccgccgccgccttcccgagcctacctccgcctccgggctcggccagcctgccgcccagcggggcgccgctgggcctgagcactttcctcggagcggcagtgttccgacacccagctttcatcagcccggcattcggcaggctcttttccacaatggcccccctgaccagcgcgtcgaccgcggccgcgctcctgagacagcccacacccgccgtggagggcgcagtggcatcgggcgccctggccgacccggccacggcggccgcagacagacgcgcctctagcatagccgcgctgaggctcaaggccaaggagcacgcggcgcagctcacgcagctcaacatcctgccgggcaccagcacgggcaaggaggtgtgctaaaggctgccctccacacccgcgccccgcgcgcgccccgaaaggtcacctcactcagcaccactcaagaccaaatggaaacagaggaccagcacactcccgagacggcactgagagagcgcagccgccttcacagcagtctggatgcgggcatggcagccctcggcgctccgggacgtggcacctcctcggctggctgtccacccgcccctgcccctgcccctgctactgccaacctcgctccaactccaacatccactctctcttgttcttactttcctgaaaatatcggggaggttttctcccccagacgcctgatattgaagtaaaaaatttaaaaagcccaacctcttcctcctgacaccccacttagcctttcttttctttctttctttctttcttttttttttttaaatagcattttggcgctcgaagttgatctccccagcgagggccccagcgtgaagccagggcccgggaagcaaatgcgagcctgtaagatagctaacagtgcacttaaaggaaaggggcgtcttgttcttgttctcttctttatcatacaccaaccaaggtttttatatcaaaccaaagggaaataatactctgctagaatatggactgttgaagtcaccaaactgtgattattgattctgtacataccattgttattaaaaaaaaaaaaaaaagaacagagctttgtatatttgaaatgttataacgcaattgcactcagcgtggtatggtaaaagtttgtcctcccgtagattcttactgtgttgtagatacggtagggttcctagacaaatatttatgtactcaagccctttatttaacttattaactgtagaggcttccgaaaccttcaagataaaggcaatggtacagtacttttgtgtaatgtgtaattgttaccacttttccttgctatctagtggagaagtgtcacgctcaaaataaaaaaattatatgtttaacaaaaaaaaaaaaa

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