LOCUS       NM_013435               3255 bp    mRNA    linear   PRI 10-DEC-2024
DEFINITION  Homo sapiens retina and anterior neural fold homeobox (RAX), mRNA.
ACCESSION   NM_013435
VERSION     NM_013435.3
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 3255)
  AUTHORS   Atefi,A., Kojouri,P.S., Karamali,F., Irani,S. and
            Nasr-Esfahani,M.H.
  TITLE     Construction and characterization of EGFP reporter plasmid
            harboring putative human RAX promoter for in vitro monitoring of
            retinal progenitor cells identity
  JOURNAL   BMC Mol Cell Biol 22 (1), 40 (2021)
   PUBMED   34348662
  REMARK    GeneRIF: Construction and characterization of EGFP reporter plasmid
            harboring putative human RAX promoter for in vitro monitoring of
            retinal progenitor cells identity.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3255)
  AUTHORS   Huang,X.F., Huang,Z.Q., Lin,D., Dai,M.L., Wang,Q.F., Chen,Z.J.,
            Jin,Z.B. and Wang,Y.
  TITLE     Unraveling the genetic cause of a consanguineous family with
            unilateral coloboma and retinoschisis: expanding the phenotypic
            variability of RAX mutations
  JOURNAL   Sci Rep 7 (1), 9064 (2017)
   PUBMED   28831107
  REMARK    GeneRIF: combination of WES and homozygosity mapping identified a
            novel homozygous RAX mutation in a consanguineous family
            segregating with rarely reported asymmetrical coloboma. Clinical
            findings and genetic results support that RAX mutation is
            responsible for eye malformations.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3255)
  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 3255)
  AUTHORS   Abouzeid,H., Youssef,M.A., Bayoumi,N., ElShakankiri,N., Marzouk,I.,
            Hauser,P. and Schorderet,D.F.
  TITLE     RAX and anophthalmia in humans: evidence of brain anomalies
  JOURNAL   Mol Vis 18, 1449-1456 (2012)
   PUBMED   22736936
  REMARK    GeneRIF: The three consanguineous Egyptian anophthalmia patients
            carry a novel homozygous c.543+3A>G mutation (IVS2+3A>G) in RAX.
REFERENCE   5  (bases 1 to 3255)
  AUTHORS   Seko,Y., Azuma,N., Kaneda,M., Nakatani,K., Miyagawa,Y., Noshiro,Y.,
            Kurokawa,R., Okano,H. and Umezawa,A.
  TITLE     Derivation of human differential photoreceptor-like cells from the
            iris by defined combinations of CRX, RX and NEUROD
  JOURNAL   PLoS One 7 (4), e35611 (2012)
   PUBMED   22558175
  REMARK    GeneRIF: Photosensitive photoreceptor cells can be generated by
            combinations of transcription factors. The combination of CRX and
            RX generate immature photoreceptors: and additional NEUROD promotes
            maturation.
REFERENCE   6  (bases 1 to 3255)
  AUTHORS   Mikkola,I., Bruun,J.A., Holm,T. and Johansen,T.
  TITLE     Superactivation of Pax6-mediated transactivation from paired
            domain-binding sites by dna-independent recruitment of different
            homeodomain proteins
  JOURNAL   J Biol Chem 276 (6), 4109-4118 (2001)
   PUBMED   11069920
REFERENCE   7  (bases 1 to 3255)
  AUTHORS   Mathers,P.H. and Jamrich,M.
  TITLE     Regulation of eye formation by the Rx and pax6 homeobox genes
  JOURNAL   Cell Mol Life Sci 57 (2), 186-194 (2000)
   PUBMED   10766016
  REMARK    Review article
REFERENCE   8  (bases 1 to 3255)
  AUTHORS   Kimura,A., Singh,D., Wawrousek,E.F., Kikuchi,M., Nakamura,M. and
            Shinohara,T.
  TITLE     Both PCE-1/RX and OTX/CRX interactions are necessary for
            photoreceptor-specific gene expression
  JOURNAL   J Biol Chem 275 (2), 1152-1160 (2000)
   PUBMED   10625658
REFERENCE   9  (bases 1 to 3255)
  AUTHORS   Mathers,P.H., Grinberg,A., Mahon,K.A. and Jamrich,M.
  TITLE     The Rx homeobox gene is essential for vertebrate eye development
  JOURNAL   Nature 387 (6633), 603-607 (1997)
   PUBMED   9177348
REFERENCE   10 (bases 1 to 3255)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067859.7 and AF115392.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_013435.2.
            
            Summary: This gene encodes a homeobox-containing transcription
            factor that functions in eye development. The gene is expressed
            early in the eye primordia, and is required for retinal cell fate
            determination and also regulates stem cell proliferation. Mutations
            in this gene have been reported in patients with defects in ocular
            development, including microphthalmia, anophthalmia, and
            coloboma.[provided by RefSeq, Oct 2009].
            
            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 :: AF115392.1, ERR3218372.186945.1
                                           [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2147596,
                                           SAMEA2156670 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334889.4/ ENSP00000334813.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-61                AC067859.7         139191-139251       c
            62-537              AF115392.1         4-479
            538-605             AC067859.7         138344-138411       c
            606-1773            AF115392.1         548-1715
            1774-3255           AC067859.7         132835-134316       c
FEATURES             Location/Qualifiers
     source          1..3255
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.32"
     gene            1..3255
                     /gene="RAX"
                     /gene_synonym="MCOP3; MCOPS16; RAX1; RX"
                     /note="retina and anterior neural fold homeobox"
                     /db_xref="GeneID:30062"
                     /db_xref="HGNC:HGNC:18662"
                     /db_xref="MIM:601881"
     exon            1..537
                     /gene="RAX"
                     /gene_synonym="MCOP3; MCOPS16; RAX1; RX"
                     /inference="alignment:Splign:2.1.0"
     CDS             249..1289
                     /gene="RAX"
                     /gene_synonym="MCOP3; MCOPS16; RAX1; RX"
                     /note="retina and anterior neural fold homeobox protein"
                     /codon_start=1
                     /product="retinal homeobox protein Rx"
                     /protein_id="NP_038463.2"
                     /db_xref="CCDS:CCDS11972.1"
                     /db_xref="GeneID:30062"
                     /db_xref="HGNC:HGNC:18662"
                     /db_xref="MIM:601881"
                     /translation="MHLPGCAPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKD
                     DGILGTFPAERGARGAKERDRRLGARPACPKAPEEGSEPSPPPAPAPAPEYEAPRPYC
                     PKEPGEARPSPGLPVGPATGEAKLSEEEQPKKKHRRNRTTFTTYQLHELERAFEKSHY
                     PDVYSREELAGKVNLPEVRVQVWFQNRRAKWRRQEKLEVSSMKLQDSPLLSFSRSPPS
                     ATLSPLGAGPGSGGGPAGGALPLESWLGPPLPGGGATALQSLPGFGPPAQSLPASYTP
                     PPPPPPFLNSPPLGPGLQPLAPPPPSYPCGPGFGDKFPLDEADPRNSSIAALRLKAKE
                     HIQAIGKPWQAL"
     exon            538..791
                     /gene="RAX"
                     /gene_synonym="MCOP3; MCOPS16; RAX1; RX"
                     /inference="alignment:Splign:2.1.0"
     exon            792..3255
                     /gene="RAX"
                     /gene_synonym="MCOP3; MCOPS16; RAX1; RX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1747..1752
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAX"
                     /gene_synonym="MCOP3; MCOPS16; RAX1; RX"
                     /note="hexamer: ATTAAA"
     polyA_site      1773
                     /gene="RAX"
                     /gene_synonym="MCOP3; MCOPS16; RAX1; RX"
                     /note="major polyA site"
     regulatory      3236..3241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAX"
                     /gene_synonym="MCOP3; MCOPS16; RAX1; RX"
                     /note="hexamer: AACAAA"
     polyA_site      3255
                     /gene="RAX"
                     /gene_synonym="MCOP3; MCOPS16; RAX1; RX"
ORIGIN      
        1 agttggctcc ccgcctttag cgccgagagc cccagctacc ccgagcccga acttccgact
       61 tctgggacta aggcggcagc gggctgagcg ctcggccacc cccagcgtgc gcagcccggg
      121 cgggcttcgc ccgcggagct tgacctaggg tcgggacccg tcgggttgca ccgccgcact
      181 cgggaagacc cggcttcgag cctctcctct ccgtctccaa agcgccctcc cgcctcccgg
      241 cgctccccat gcacctgccg ggctgcgcgc cagccatggc cgacgggagc ttctcgcttg
      301 ccggccacct gctccgcagc ccgggcggga gcacctcgcg acttcacagc atcgaggcca
      361 tcctggggtt taccaaggac gacgggatcc tcggcacctt cccggcggag cggggcgccc
      421 ggggcgcgaa ggagcgggat aggaggctgg gcgcgcggcc cgcctgcccc aaggcgcccg
      481 aggaaggctc cgagccctcc ccgccgccag ccccggcgcc cgcccccgag tacgaagccc
      541 ctcgacccta ctgccccaag gagcccgggg aggcacggcc gagcccaggg ctgcccgtcg
      601 ggccagccac cggcgaagcg aaactgtcag aggaggaaca gcccaagaaa aagcatcggc
      661 ggaaccgcac gactttcacc acgtaccagc tgcatgagct ggagcgcgcg ttcgagaagt
      721 cccactaccc ggacgtgtac agccgcgagg agctggccgg caaggtcaac ctaccagagg
      781 tccgggtcca ggtgtggttc cagaaccgac gggctaagtg gcggcggcag gagaagctgg
      841 aagtgtcctc catgaagctg caggactcgc ccctcctctc cttcagccgc tccccgccct
      901 ccgcgacgct gtcgcccctc ggggcgggcc cgggcagcgg tggcgggccg gctgggggcg
      961 cgctgccgct ggagtcctgg ctcgggccgc cgctgccggg cgggggcgcc acggcgctgc
     1021 agagcctgcc gggcttcggg ccgccggcgc agagcctgcc tgccagctac acgccaccgc
     1081 cgccgcctcc gcccttcctg aactccccgc cgttgggccc cggcctgcaa cctctcgcgc
     1141 cgccgccgcc ctcctacccg tgcgggcccg gcttcgggga caagttcccg ctggacgagg
     1201 cggacccgcg caacagcagc atcgcggcgc tgcgtctgaa agccaaggag cacatccagg
     1261 ccatcgggaa gccgtggcag gccctctagg ggcactgggg aacgtcttgg gatccgaccc
     1321 cgggccgacc gcaccgtacc cgcatcctct ctcccaggga caacccccct ccccagctcg
     1381 gcccctcttt ccctgtcgcc tgcagccacc cgccaagcat agttcagggc cacgcgcctg
     1441 ctcccgatgc acggggagaa gggcgacttt caggcctgag gagaggccct ctggccgcct
     1501 caacgcactt cgcggacctc agccctgcag ctggagggca acaggctgcc gggccccgct
     1561 ggccacgccg ctcccatcac cgcaggcgct ggagcctcca ggcccaaaca ggctgaagct
     1621 cctaaacttg gccattccca ggaggcttgg agacccccag ataaccataa cagggaagca
     1681 ggggaggcgg aaaaatagag tttgagaaac ttttgtataa gtagtttcaa actatttgag
     1741 aggagaatta aagacatgct tgttttgttt cgactctgtt taagcacgct caggacttgg
     1801 ggagaggagt gaatattggg gtacgggagg agggtgcgtt gacggacagg gtgggtcagg
     1861 gaaagaggag gactgagaag aagctcaggg tttccttgtg aaaattctag ggacacttcg
     1921 ctgcagcaga gaatcgtccc cattccgaac gcttcggcgg cctagaccag aggcgccctt
     1981 ccctggagcc ggcgtgcgcg cttggggtcc ggagtggatg gggctaaggc tcagatgcta
     2041 gcgcgctccc agttcccccg ctagccccat agtccagcgg cagctgatat tttcaagttt
     2101 gacttcaata gaaagcgtca agaccacctt ccctagggcg agagcgaagt gtcccccggc
     2161 ccctggcgtc cccgctctcc taaggactcc tctcagttca ccaagcagat ctccggttcg
     2221 gtgccagtcc ctaacaccca aggttgatca ccagcggtac aagaactgag gcaaagagat
     2281 gcttttcctt ttcggagccg cgagactctc taacctcccc aactcgctcc acactcgcca
     2341 acccagagtt cggtaaaagg cgcgtctggt gaggtgccgc gctcggagag tgtcctggag
     2401 cgccctacgc caccgccccg agagctagtt cttgcgggcg tgccctggac agtatctgca
     2461 gttctttggc gccggctcta gggcgaggaa ggaatctcga aatctcagcc cgcttcacaa
     2521 tctcctgaga ctctctgaag aaggagagtc ccggactccc gcctgagcgt gctcgatatc
     2581 caccgttgac actggaagct gggcgaccgc cagcagaacc tggatgcccg ccaacaggtc
     2641 ctggcacggg gggggggggg gcgtccaccc cacaaccccc gtccctaagc gtgctttcag
     2701 gatgatgccc ccagagcctt aattagcatc aactggctac tgtctgtcgg tcctgagcaa
     2761 attagtgaag ctcccagtcc cctttcctcg tctaaataaa ctctgtctct ctggaaggtg
     2821 ggaaagatgg aataagatca cctgtaaagg ctttgtggaa agtaccaaga ccctggcatg
     2881 acgcaatatg gattgtaatc atcgtcccca tttccccgaa attccctggc tgttctccgg
     2941 ttcctgaaac cgacttggga aaaggatgac cacgctggag ctgggaatat gggaagcctc
     3001 atcatagttt ccagtccttt ctctgcgggt ctaagaggct attgcataac cagggctgtg
     3061 tacccctaga cctccagatg gtgccttgca cacagtaggc tgatcagtaa aaatgtactg
     3121 aataaattat tcccccccaa gaggtaggga gtaatatctg cacttttcct cacaaggatg
     3181 tctccttggg ggaggaggat ggagcagccc gtgtgttatc accttttagc aagaaaacaa
     3241 aacaaaacaa aacca
//
