LOCUS       NM_001100174            2861 bp    mRNA    linear   ROD 21-JUN-2021
DEFINITION  Rattus norvegicus aristaless related homeobox (Arx), mRNA.
ACCESSION   NM_001100174 XM_001064618 XM_228590
VERSION     NM_001100174.1
KEYWORDS    RefSeq.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2861)
  AUTHORS   Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus
            A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron
            C, Cossee M, Leheup B, Philippe C, Laugel V, De Saint Martin A,
            Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B,
            Bieth E, Kauffmann D, Briot P, de Freminville B, Prieur F, Till M,
            Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A,
            Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani
            N, Gollub RL, Roy A and des Portes V.
  TITLE     The c.429_452 duplication of the ARX gene: a unique
            developmental-model of limb kinetic apraxia
  JOURNAL   Orphanet J Rare Dis 9, 25 (2014)
   PUBMED   24528893
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2861)
  AUTHORS   Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa
            S, Paciolla M, Courtney M, Collombat P, Lioi MB, Gecz J, Ursini MV
            and Miano MG.
  TITLE     A regulatory path associated with X-linked intellectual disability
            and epilepsy links KDM5C to the polyalanine expansions in ARX
  JOURNAL   Am J Hum Genet 92 (1), 114-125 (2013)
   PUBMED   23246292
REFERENCE   3  (bases 1 to 2861)
  AUTHORS   Du A, McCracken KW, Walp ER, Terry NA, Klein TJ, Han A, Wells JM
            and May CL.
  TITLE     Arx is required for normal enteroendocrine cell development in mice
            and humans
  JOURNAL   Dev Biol 365 (1), 175-188 (2012)
   PUBMED   22387004
REFERENCE   4  (bases 1 to 2861)
  AUTHORS   Quille ML, Carat S, Quemener-Redon S, Hirchaud E, Baron D, Benech
            C, Guihot J, Placet M, Mignen O, Ferec C, Houlgatte R and Friocourt
            G.
  TITLE     High-throughput analysis of promoter occupancy reveals new targets
            for Arx, a gene mutated in mental retardation and
            interneuronopathies
  JOURNAL   PLoS One 6 (9), e25181 (2011)
   PUBMED   21966449
REFERENCE   5  (bases 1 to 2861)
  AUTHORS   Kitamura K, Itou Y, Yanazawa M, Ohsawa M, Suzuki-Migishima R, Umeki
            Y, Hohjoh H, Yanagawa Y, Shinba T, Itoh M, Nakamura K and Goto Y.
  TITLE     Three human ARX mutations cause the lissencephaly-like and mental
            retardation with epilepsy-like pleiotropic phenotypes in mice
  JOURNAL   Hum Mol Genet 18 (19), 3708-3724 (2009)
   PUBMED   19605412
REFERENCE   6  (bases 1 to 2861)
  AUTHORS   Yoshihara S, Omichi K, Yanazawa M, Kitamura K and Yoshihara Y.
  TITLE     Arx homeobox gene is essential for development of mouse olfactory
            system
  JOURNAL   Development 132 (4), 751-762 (2005)
   PUBMED   15677725
REFERENCE   7  (bases 1 to 2861)
  AUTHORS   Poirier K, Van Esch H, Friocourt G, Saillour Y, Bahi N, Backer S,
            Souil E, Castelnau-Ptakhine L, Beldjord C, Francis F, Bienvenu T
            and Chelly J.
  TITLE     Neuroanatomical distribution of ARX in brain and its localisation
            in GABAergic neurons
  JOURNAL   Brain Res Mol Brain Res 122 (1), 35-46 (2004)
   PUBMED   14992814
REFERENCE   8  (bases 1 to 2861)
  AUTHORS   Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka
            M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo
            S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M,
            Dobyns WB, Yokoyama M and Morohashi K.
  TITLE     Mutation of ARX causes abnormal development of forebrain and testes
            in mice and X-linked lissencephaly with abnormal genitalia in
            humans
  JOURNAL   Nat Genet 32 (3), 359-369 (2002)
   PUBMED   12379852
REFERENCE   9  (bases 1 to 2861)
  AUTHORS   Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K,
            Parasivam G, Stromme P, Berkovic SF, Gecz J and Mulley JC.
  TITLE     X-linked myoclonic epilepsy with spasticity and intellectual
            disability: mutation in the homeobox gene ARX
  JOURNAL   Neurology 59 (3), 348-356 (2002)
   PUBMED   12177367
REFERENCE   10 (bases 1 to 2861)
  AUTHORS   Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau
            F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M,
            Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki
            K, Chaabouni H, Fryns JP, Desportes V, Beldjord C and Chelly J.
  TITLE     ARX, a novel Prd-class-homeobox gene highly expressed in the
            telencephalon, is mutated in X-linked mental retardation
  JOURNAL   Hum Mol Genet 11 (8), 981-991 (2002)
   PUBMED   11971879
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from EF638804.1.
            On or before Jul 29, 2007 this sequence version replaced
            XM_228590.4, XM_001064618.1.
            
            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 :: EF638804.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA5760384, SAMEA5760386
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2861
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="W"
                     /db_xref="taxon:10116"
                     /chromosome="X"
                     /map="Xq22"
     gene            1..2861
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /note="aristaless related homeobox"
                     /db_xref="GeneID:317268"
                     /db_xref="RGD:1562672"
     exon            1..392
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    2..4
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /note="upstream in-frame stop codon"
     CDS             197..1897
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /codon_start=1
                     /product="homeobox protein ARX"
                     /protein_id="NP_001093644.1"
                     /db_xref="GeneID:317268"
                     /db_xref="RGD:1562672"
                     /translation="

MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLASRTDQEKAMQGSPKGSSAPFEAELHLPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATGTAGPRGEVPPPPPPAARPGERQDSAGAVAAAAAAAWDTLKISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVAHPEERLSAASGPGSAPAAGGGTGTEEDEEELLEDEEDEDEEEELLEDDEEELLEDDARALLKEPRRCSVATTGTVAAAAAAAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPFPGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPAFGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKEVC"

     misc_feature    197..259
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /note="propagated from UniProtKB/Swiss-Prot (A6YP92.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    344..433
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /note="propagated from UniProtKB/Swiss-Prot (A6YP92.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    551..988
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /note="propagated from UniProtKB/Swiss-Prot (A6YP92.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1052..1153
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /note="propagated from UniProtKB/Swiss-Prot (A6YP92.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    order(1193..1207,1211..1213,1262..1264,1280..1282,
                     1319..1321,1325..1330,1337..1342,1346..1354,1358..1363)
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     misc_feature    order(1199..1201,1208..1210,1328..1330,1337..1342,
                     1349..1351)
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:238039"
     misc_feature    1202..1360
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /note="Homeobox domain; Region: Homeobox; pfam00046"
                     /db_xref="CDD:278475"
     misc_feature    1784..1837
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /note="OAR domain; Region: OAR; pfam03826"
                     /db_xref="CDD:281777"
     misc_feature    1796..1837
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /note="propagated from UniProtKB/Swiss-Prot (A6YP92.1);
                     Region: OAR.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00138"
     exon            393..1281
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /inference="alignment:Splign:2.1.0"
     STS             1082..1864
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /standard_name="Arx"
                     /db_xref="UniSTS:546662"
     exon            1282..1327
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1656
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /inference="alignment:Splign:2.1.0"
     exon            1657..2851
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /inference="alignment:Splign:2.1.0"
     STS             1950..2822
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /standard_name="Arx"
                     /db_xref="UniSTS:506739"
     STS             2409..2822
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /standard_name="NoName"
                     /db_xref="UniSTS:532310"
     STS             2625..2823
                     /gene="Arx"
                     /gene_synonym="RGD1562672"
                     /standard_name="RH128932"
                     /db_xref="UniSTS:212240"
ORIGIN      

ctgagcgcggagaggacgagctccggctgaggtcagagtgggagcccgcatccgaggggggcagaaaggaacaaagatcgcagtaatacctgttataatcagcaatctaacccatccccaacacacactctttcaccctaccggccaggagaggcaggcagaggtccactctgagcccaaggaaaaagctccaaccatgagcaatcagtaccaggaagagggctgctctgagaggcccgagtgcaagagtaaatcgccaactttgctctcctcctactgcatcgacagcatcctgggccggagaagcccgtgcaaaatgaggcttctgggagccgcgcagagcttgcctgccccgctggccagccgtactgaccaagaaaaagccatgcaaggctcccccaagggcagcagcgccccgttcgaggctgagctgcacctgccacccaagctgcggcgcctgtacggcccgggcgggggccgcctcctccagggcgcagcagcggcggcagcggcggcggccgcggcggcggcggcggcagccacggccactggcaccgcaggtccccgtggagaggttcctccaccgccaccgccagcagcacggccaggggagcgtcaggacagcgcgggggccgtggccgccgccgccgccgctgcctgggacacgctcaaaattagccaggcaccgcaggtgagcatcagccgcagcaagtcgtaccgcgagaacggggcgcccttcgtgccaccgccgcccgccctggacgagctgggtggtccggggggcgtcgcgcacccagaggagcgcctcagcgcggccagcggacccggcagtgccccggcggcgggtggtggcacgggcaccgaggaggacgaggaggagctgttggaggatgaggaagatgaagatgaggaagaggagctgctggaggacgacgaggaggagctgctggaagacgatgcccgcgcgctactcaaggagccccggcgctgctctgtggccaccactggcacggtggccgccgccgccgccgccgccgctgccgccgccgccgtggccaccgagggcggggagctgtcgcccaaggaagagctgttgctgcacccggaggacgccgagggcaaggatggtgaggacagcgtgtgcctgtccgccggcagcgactccgaggaggggctcctgaagcgcaaacagaggcgttaccgcaccacgttcaccagttaccagctggaggaactggagcgggctttccagaagacacactaccctgacgtcttcaccagggaggagctggccatgaggctggacctgactgaggcccgagtccaggtgtggttccagaaccgcagggccaagtggcgcaagcgggagaaggctggcgcgcagacccaccccccggggctgccctttcccgggccactctcggctacccaccctctcagcccctacctggacgccagcccctttcccccgcatcacccagcgcttgactcggcctggaccgccgccgctgcagcggctgcagctgccttcccgagcctacctccgcccccgggctctgctagcctgccgcccagcggggcgccgctgggcctgagcactttcctgggagcagccgtgttccggcacccggccttcatcagcccagcatttggcaggctcttttccactatggcccccctgaccagcgcgtcgaccgcggctgcgctcctgagacagcccacacccgcagtggagggcgcagtggcctcgggcgcgctggccgatcccgccaccgctgcggcagacagacgcgcatcgagcatagcggcgctgaggctcaaggctaaggagcacgccgcgcagctcacgcagctcaacatcctcccgggcaccagcacggggaaggaggtgtgctaaaggctgccctccgcccttgcgcccctagggcgcgccccgaaaggtcacctcactcagcaccactcaagaccaaatggaaacagaggaccagctcactcccaagacggcaaagacagagcgcagccgccttcgcagcagcctggaccctggacgcggacaaggcagctcttggcgctaaaggacgtggcacctcttccgttggctgtccatttgcccttgtccctgtccctacccctgccactgccaacgtcactccaactcaaatgtccacgctcccgtttttatcttactgaaaacaagcgggagggtttctccccaatatgcctagtattgaagttttaaaaattaaaagcccaaccttctcttcctccggataccccacttagcttttcttttgaatagcattttggcgctctaagttgatttaagcgcggcccggctagacagacaccagggccagggaagcgaatacgaatctgtaagatagctaacagtgcacttaaaggaaaggggcgtctcgttcttgttctcttctttatcatacaccaaccaaggtttttatatcaaaccaaagggaaatactctgctagaatatggactgttgaagtcaccaaactgtgattattgattctgtacataccattgttattaaaaaaaaaagaacagagctttgtatatttgaaatgttataacgcaattgcactcagcgtggtatggtaaaagtttgtcctcctgtagattcttactgtgttgtagatatggtagggttcctagacaaatatttatgtactcaagccctttatttaacttattaactgtagaggcttcggaaaccttcaagataaaggcaatggtacagtacttttgtgtaatgtgtaattgttatcacttttccttgctatctagtggagaagtgtcacgctcaaaataaaaaaaaatatatgtttaacaaaaaaaaaaaaaa

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