LOCUS       NM_139058               2893 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens aristaless related homeobox (ARX), mRNA.
ACCESSION   NM_139058
VERSION     NM_139058.3
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 2893)
  AUTHORS   Gras,M., Heide,S., Keren,B., Valence,S., Garel,C., Whalen,S.,
            Jansen,A.C., Keymolen,K., Stouffs,K., Jennesson,M., Poirsier,C.,
            Lesca,G., Depienne,C., Nava,C., Rastetter,A., Curie,A., Cuisset,L.,
            Des Portes,V., Milh,M., Charles,P., Mignot,C. and Heron,D.
  TITLE     Further characterisation of ARX-related disorders in females due to
            inherited or de novo variants
  JOURNAL   J Med Genet 61 (2), 103-108 (2024)
   PUBMED   37879892
  REMARK    GeneRIF: Further characterisation of ARX-related disorders in
            females due to inherited or de novo variants.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2893)
  AUTHORS   Neyaz,A., Crotty,R., Rickelt,S., Pankaj,A., Stojanova,M.,
            Michelakos,T.P., Sekigami,Y., Kontos,F., Parrack,P.H., Patil,D.T.,
            Heaphy,C.M., Ferrone,C.R. and Deshpande,V.
  TITLE     Predicting recurrence in pancreatic neuroendocrine tumours: role of
            ARX and alternative lengthening of telomeres (ALT)
  JOURNAL   Histopathology 83 (4), 546-558 (2023)
   PUBMED   37455385
  REMARK    GeneRIF: Predicting recurrence in pancreatic neuroendocrine
            tumours: role of ARX and alternative lengthening of telomeres
            (ALT).
REFERENCE   3  (bases 1 to 2893)
  AUTHORS   Poeta,L., Malacarne,M., Padula,A., Drongitis,D., Verrillo,L.,
            Lioi,M.B., Chiariello,A.M., Bianco,S., Nicodemi,M., Piccione,M.,
            Salzano,E., Coviello,D. and Miano,M.G.
  TITLE     Further Delineation of Duplications of ARX Locus Detected in Male
            Patients with Varying Degrees of Intellectual Disability
  JOURNAL   Int J Mol Sci 23 (6), 3084 (2022)
   PUBMED   35328505
  REMARK    GeneRIF: Further Delineation of Duplications of ARX Locus Detected
            in Male Patients with Varying Degrees of Intellectual Disability.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2893)
  AUTHORS   Fujita,Y., Kozawa,J., Fukui,K., Iwahashi,H., Eguchi,H. and
            Shimomura,I.
  TITLE     Increased NKX6.1 expression and decreased ARX expression in alpha
            cells accompany reduced beta-cell volume in human subjects
  JOURNAL   Sci Rep 11 (1), 17796 (2021)
   PUBMED   34493754
  REMARK    GeneRIF: Increased NKX6.1 expression and decreased ARX expression
            in alpha cells accompany reduced beta-cell volume in human
            subjects.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2893)
  AUTHORS   Poeta,L., Padula,A., Lioi,M.B., van Bokhoven,H. and Miano,M.G.
  TITLE     Analysis of a Set of KDM5C Regulatory Genes Mutated in
            Neurodevelopmental Disorders Identifies Temporal Coexpression Brain
            Signatures
  JOURNAL   Genes (Basel) 12 (7), 1088 (2021)
   PUBMED   34356104
  REMARK    GeneRIF: Analysis of a Set of KDM5C Regulatory Genes Mutated in
            Neurodevelopmental Disorders Identifies Temporal Coexpression Brain
            Signatures.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2893)
  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 2893)
  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 2893)
  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 2893)
  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 2893)
  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 AC002504.1, BQ100952.1,
            AY038071.1, CA775911.1, BF196892.1 and AA484051.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_139058.2.
            
            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. Expansion of a polyalanine tract and other
            mutations in this gene cause X-linked cognitive disability and
            epilepsy. [provided by RefSeq, Jul 2016].
            
            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]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379044.5/ ENSP00000368332.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AC002504.1         50046-50062
            18-228              BQ100952.1         1-211
            229-1914            AY038071.1         1-1686
            1915-2446           CA775911.1         77-608
            2447-2598           BF196892.1         125-276
            2599-2893           AA484051.1         132-426
FEATURES             Location/Qualifiers
     source          1..2893
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.3"
     gene            1..2893
                     /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:HGNC:18060"
                     /db_xref="MIM:300382"
     exon            1..424
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /inference="alignment:Splign:2.1.0"
     CDS             229..1917
                     /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="CCDS:CCDS14215.1"
                     /db_xref="GeneID:170302"
                     /db_xref="HGNC:HGNC:18060"
                     /db_xref="MIM:300382"
                     /translation="MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLL
                     GAAQSLPAPLTSRADPEKAVQGSPKSSSAPFEAELHLPPKLRRLYGPGGGRLLQGAAA
                     AAAAAAAAAAAAATATAGPRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLK
                     ISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAG
                     GGTGTEDDEEELLEDEEDEDEEEELLEDDEEELLEDDARALLKEPRRCPVAATGAVAA
                     AAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYRTT
                     FTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQ
                     THPPGLPFPGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGS
                     ASLPPSGAPLGLSTFLGAAVFRHPAFISPAFGRLFSTMAPLTSASTAAALLRQPTPAV
                     EGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKEVC"
     exon            425..1301
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..1347
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /inference="alignment:Splign:2.1.0"
     exon            1348..1676
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /inference="alignment:Splign:2.1.0"
     exon            1677..2893
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2876..2881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /note="hexamer: ATTATA"
     polyA_site      2893
                     /gene="ARX"
                     /gene_synonym="CT121; EIEE1; ISSX; MRX29; MRX32; MRX33;
                     MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS"
                     /note="major polyA site"
ORIGIN      
        1 actacacttg ttaccgcttg tcctgagcgc ggagagggcg agctcgggcc gcgggcaggg
       61 cgggagccgg cagccggcaa ccaagggagg cagaaaggca caaagatcgc aataatatcc
      121 gttataaccc gctatctaac cccaccccca acacacaccc atccatccca ccctccggga
      181 gaggcagccg gcgatccgct ctctgcgccc tgggaaaaag ccccagccat gagcaatcag
      241 taccaggagg agggctgctc cgagaggccc gagtgcaaaa gtaaatctcc aactttgctc
      301 tcctcctact gcatcgacag catcctgggc cggaggagcc cgtgcaaaat gcggttgctg
      361 ggagccgcgc agagcttgcc tgctccgctg accagccgcg ccgacccgga aaaggccgtg
      421 caaggctccc ctaagagcag cagcgccccg ttcgaggccg agctgcacct gccgcccaag
      481 ctgcggcgcc tgtacggccc gggcgggggc cgcctccttc agggtgcggc agcggcggcg
      541 gcggcggcgg cggcggcggc ggcagcggcc gccacggcca cggcgggtcc acgcggggag
      601 gcccctccgc cgccaccgcc aaccgcgcgg cccggggaac ggccggacgg cgcaggggcc
      661 gccgcggcag ccgcggccgc ggccgccgcg gcctgggaca cgctcaagat cagccaggcg
      721 ccgcaggtga gcatcagccg cagcaagtcg taccgcgaga acggggcgcc cttcgtgccg
      781 ccgccgcccg cgctggacga gctgggcggc ccggggggcg tcacgcaccc ggaggagcgc
      841 ctcggcgtgg ccggcggccc gggcagcgcc ccggctgcgg gtggtggcac cggcaccgag
      901 gacgacgagg aggagctgct ggaggacgaa gaagatgagg acgaggaaga ggaactgctg
      961 gaggacgacg aggaggagct gctggaggac gacgcccgcg cgctgctcaa ggagccccgg
     1021 cgctgtcctg tggccgccac tggcgccgtg gccgcagcag ctgccgctgc agtggccaca
     1081 gagggcgggg agctgtcacc caaggaggag ctgctgctgc acccggaaga cgctgagggc
     1141 aaggacggcg aggacagcgt gtgcctctct gcgggcagcg actcggagga ggggctgctg
     1201 aaacgcaaac agaggcgcta ccgcaccacg ttcaccagct accagctgga ggaactggag
     1261 cgggccttcc agaagacgca ctacccggac gtcttcacca gggaggaact ggccatgagg
     1321 ctggacttga ccgaggcccg agtccaggtc tggttccaga accgtcgggc caagtggcgc
     1381 aagcgggaga aggcaggcgc gcagacccac ccccctgggc tgcccttccc ggggccgctc
     1441 tccgccaccc acccgctcag cccctacctg gacgccagcc ccttccctcc gcaccacccg
     1501 gcgctcgact ccgcttggac tgccgctgcc gccgccgccg ccgccgcctt cccgagccta
     1561 cctccgcctc cgggctcggc cagcctgccg cccagcgggg cgccgctggg cctgagcact
     1621 ttcctcggag cggcagtgtt ccgacaccca gctttcatca gcccggcatt cggcaggctc
     1681 ttttccacaa tggcccccct gaccagcgcg tcgaccgcgg ccgcgctcct gagacagccc
     1741 acacccgccg tggagggcgc agtggcatcg ggcgccctgg ccgacccggc cacggcggcc
     1801 gcagacagac gcgcctctag catagccgcg ctgaggctca aggccaagga gcacgcggcg
     1861 cagctcacgc agctcaacat cctgccgggc accagcacgg gcaaggaggt gtgctaaagg
     1921 ctgccctcca cacccgcgcc ccgcgcgcgc cccgaaaggt cacctcactc agcaccactc
     1981 aagaccaaat ggaaacagag gaccagcaca ctcccgagac ggcactgaga gagcgcagcc
     2041 gccttcacag cagtctggat gcgggcatgg cagccctcgg cgctccggga cgtggcacct
     2101 cctcggctgg ctgtccaccc gcccctgccc ctgcccctgc tactgccaac ctcgctccaa
     2161 ctccaacatc cactctctct tgttcttact ttcctgaaaa tatcggggag gttttctccc
     2221 ccagacgcct gatattgaag taaaaaattt aaaaagccca acctcttcct cctgacaccc
     2281 cacttagcct ttcttttctt tctttctttc tttctttttt ttttttaaat agcattttgg
     2341 cgctcgaagt tgatctcccc agcgagggcc ccagcgtgaa gccagggccc gggaagcaaa
     2401 tgcgagcctg taagatagct aacagtgcac ttaaaggaaa ggggcgtctt gttcttgttc
     2461 tcttctttat catacaccaa ccaaggtttt tatatcaaac caaagggaaa taatactctg
     2521 ctagaatatg gactgttgaa gtcaccaaac tgtgattatt gattctgtac ataccattgt
     2581 tattaaaaaa aaaaaaaaaa gaacagagct ttgtatattt gaaatgttat aacgcaattg
     2641 cactcagcgt ggtatggtaa aagtttgtcc tcccgtagat tcttactgtg ttgtagatac
     2701 ggtagggttc ctagacaaat atttatgtac tcaagccctt tatttaactt attaactgta
     2761 gaggcttccg aaaccttcaa gataaaggca atggtacagt acttttgtgt aatgtgtaat
     2821 tgttaccact tttccttgct atctagtgga gaagtgtcac gctcaaaata aaaaaattat
     2881 atgtttaaca aaa
//
