LOCUS       NM_003413               4001 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens Zic family member 3 (ZIC3), transcript variant 1,
            mRNA.
ACCESSION   NM_003413
VERSION     NM_003413.4
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 4001)
  AUTHORS   Hossain,I., Priam,P., Reynoso,S.C., Sahni,S., Zhang,X.X., Cote,L.,
            Doumat,J., Chik,C., Fu,T., Lessard,J.A. and Pastor,W.A.
  TITLE     ZIC2 and ZIC3 promote SWI/SNF recruitment to safeguard progression
            towards human primed pluripotency
  JOURNAL   Nat Commun 15 (1), 8539 (2024)
   PUBMED   39358345
  REMARK    GeneRIF: ZIC2 and ZIC3 promote SWI/SNF recruitment to safeguard
            progression towards human primed pluripotency.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4001)
  AUTHORS   Gao,J., Liu,L., Wu,Z. and Gan,H.
  TITLE     Zic family member 3 attenuates oxidative stress-induced vascular
            smooth muscle cell apoptosis in patients with chronic kidney
            disease
  JOURNAL   Tissue Cell 86, 102286 (2024)
   PUBMED   38091851
  REMARK    GeneRIF: Zic family member 3 attenuates oxidative stress-induced
            vascular smooth muscle cell apoptosis in patients with chronic
            kidney disease.
REFERENCE   3  (bases 1 to 4001)
  AUTHORS   Wang,Y., Dai,X., Liu,H., Peng,J. and Chen,J.
  TITLE     A novel ZIC3 mutation in a Chinese family with heterotaxy and
            multiple types of congenital heart defect
  JOURNAL   Prenat Diagn 43 (3), 275-279 (2023)
   PUBMED   36567274
  REMARK    GeneRIF: A novel ZIC3 mutation in a Chinese family with heterotaxy
            and multiple types of congenital heart defect.
REFERENCE   4  (bases 1 to 4001)
  AUTHORS   Trimouille,A., Tingaud-Sequeira,A., Lacombe,D., Duelund
            Hjortshoj,T., Kreiborg,S., Buciek Hove,H. and Rooryck,C.
  TITLE     Description of a family with X-linked oculo-auriculo-vertebral
            spectrum associated with polyalanine tract expansion in ZIC3
  JOURNAL   Clin Genet 98 (4), 384-389 (2020)
   PUBMED   32639022
  REMARK    GeneRIF: Description of a family with X-linked
            oculo-auriculo-vertebral spectrum associated with polyalanine tract
            expansion in ZIC3.
REFERENCE   5  (bases 1 to 4001)
  AUTHORS   Zhao,L., Ouyang,Y., Bai,Y., Gong,J. and Liao,H.
  TITLE     miR-155-5p inhibits the viability of vascular smooth muscle cell
            via targeting FOS and ZIC3 to promote aneurysm formation
  JOURNAL   Eur J Pharmacol 853, 145-152 (2019)
   PUBMED   30898623
  REMARK    GeneRIF: miR-155-5p inhibits the viability of vascular smooth
            muscle cell via targeting FOS and ZIC3 to promote aneurysm
            formation
REFERENCE   6  (bases 1 to 4001)
  AUTHORS   Bedard,J.E., Haaning,A.M. and Ware,S.M.
  TITLE     Identification of a novel ZIC3 isoform and mutation screening in
            patients with heterotaxy and congenital heart disease
  JOURNAL   PLoS One 6 (8), e23755 (2011)
   PUBMED   21858219
  REMARK    GeneRIF: Data show that transcript, termed Zic3-B, encompasses
            exons 1, 2, and 4 whereas Zic3-A encompasses exons 1, 2, and 3.
REFERENCE   7  (bases 1 to 4001)
  AUTHORS   Koyabu,Y., Nakata,K., Mizugishi,K., Aruga,J. and Mikoshiba,K.
  TITLE     Physical and functional interactions between Zic and Gli proteins
  JOURNAL   J Biol Chem 276 (10), 6889-6892 (2001)
   PUBMED   11238441
REFERENCE   8  (bases 1 to 4001)
  AUTHORS   Klootwijk,R., Franke,B., van der Zee,C.E., de Boer,R.T., Wilms,W.,
            Hol,F.A. and Mariman,E.C.
  TITLE     A deletion encompassing Zic3 in bent tail, a mouse model for
            X-linked neural tube defects
  JOURNAL   Hum Mol Genet 9 (11), 1615-1622 (2000)
   PUBMED   10861288
REFERENCE   9  (bases 1 to 4001)
  AUTHORS   Gebbia,M., Ferrero,G.B., Pilia,G., Bassi,M.T., Aylsworth,A.,
            Penman-Splitt,M., Bird,L.M., Bamforth,J.S., Burn,J.,
            Schlessinger,D., Nelson,D.L. and Casey,B.
  TITLE     X-linked situs abnormalities result from mutations in ZIC3
  JOURNAL   Nat Genet 17 (3), 305-308 (1997)
   PUBMED   9354794
REFERENCE   10 (bases 1 to 4001)
  AUTHORS   Casey,B., Devoto,M., Jones,K.L. and Ballabio,A.
  TITLE     Mapping a gene for familial situs abnormalities to human chromosome
            Xq24-q27.1
  JOURNAL   Nat Genet 5 (4), 403-407 (1993)
   PUBMED   8298651
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035443.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003413.3.
            
            Summary: This gene encodes a member of the ZIC family of C2H2-type
            zinc finger proteins. This nuclear protein probably functions as a
            transcription factor in early stages of left-right body axis
            formation. Mutations in this gene cause X-linked visceral
            heterotaxy, which includes congenital heart disease and left-right
            axis defects in organs. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1, also known as ZIC3-A)
            represents the longer transcript and encodes the longer isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1660803.120824.1, AF028706.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000287538.10/ ENSP00000287538.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-60                AL035443.4         66831-66890
            61-1625             AL035443.4         66891-68455
            1626-1789           AL035443.4         69606-69769
            1790-3999           AL035443.4         70595-72804
            4000-4001           AL035443.4         72805-72806
FEATURES             Location/Qualifiers
     source          1..4001
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     gene            1..4001
                     /gene="ZIC3"
                     /gene_synonym="HTX; HTX1; VACTERLX; ZNF203"
                     /note="Zic family member 3"
                     /db_xref="GeneID:7547"
                     /db_xref="HGNC:HGNC:12874"
                     /db_xref="MIM:300265"
     exon            1..1625
                     /gene="ZIC3"
                     /gene_synonym="HTX; HTX1; VACTERLX; ZNF203"
                     /inference="alignment:Splign:2.1.0"
     CDS             566..1969
                     /gene="ZIC3"
                     /gene_synonym="HTX; HTX1; VACTERLX; ZNF203"
                     /note="isoform 1 is encoded by transcript variant 1; Zic
                     family member 3 (odd-paired homolog, Drosophila); zinc
                     finger protein ZIC 3; heterotaxy 1; zinc finger protein of
                     the cerebellum 3; zinc finger protein 203"
                     /codon_start=1
                     /product="zinc finger protein ZIC 3 isoform 1"
                     /protein_id="NP_003404.1"
                     /db_xref="CCDS:CCDS14663.1"
                     /db_xref="GeneID:7547"
                     /db_xref="HGNC:HGNC:12874"
                     /db_xref="MIM:300265"
                     /translation="MTMLLDGGPQFPGLGVGSFGAPRHHEMPNREPAGMGLNPFGDST
                     HAAAAAAAAAAFKLSPAAAHDLSSGQSSAFTPQGSGYANALGHHHHHHHHHHHTSQVP
                     SYGGAASAAFNSTREFLFRQRSSGLSEAASGGGQHGLFAGSASSLHAPAGIPEPPSYL
                     LFPGLHEQGAGHPSPTGHVDNNQVHLGLRGELFGRADPYRPVASPRTDPYAAGAQFPN
                     YSPMNMNMGVNVAAHHGPGAFFRYMRQPIKQELSCKWIDEAQLSRPKKSCDRTFSTMH
                     ELVTHVTMEHVGGPEQNNHVCYWEECPREGKSFKAKYKLVNHIRVHTGEKPFPCPFPG
                     CGKIFARSENLKIHKRTHTGEKPFKCEFEGCDRRFANSSDRKKHMHVHTSDKPYICKV
                     CDKSYTHPSSLRKHMKVHESQGSDSSPAASSGYESSTPPAIASANSKDTTKTPSAVQT
                     STSHNPGLPPNFNEWYV"
     exon            1626..1789
                     /gene="ZIC3"
                     /gene_synonym="HTX; HTX1; VACTERLX; ZNF203"
                     /inference="alignment:Splign:2.1.0"
     exon            1790..4001
                     /gene="ZIC3"
                     /gene_synonym="HTX; HTX1; VACTERLX; ZNF203"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3580..3585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZIC3"
                     /gene_synonym="HTX; HTX1; VACTERLX; ZNF203"
                     /note="hexamer: ATTAAA"
     polyA_site      3603
                     /gene="ZIC3"
                     /gene_synonym="HTX; HTX1; VACTERLX; ZNF203"
                     /note="major polyA site"
     regulatory      3966..3971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZIC3"
                     /gene_synonym="HTX; HTX1; VACTERLX; ZNF203"
                     /note="hexamer: AATAAA"
     polyA_site      4001
                     /gene="ZIC3"
                     /gene_synonym="HTX; HTX1; VACTERLX; ZNF203"
ORIGIN      
        1 atcagtccaa ggacattact ctggaggcga agaggctggg actcgcgcgg cgagcggcaa
       61 gcggcgagta acgagcctgc ctactgcccg ctgcccgcct gcccggccgc tagccggctc
      121 cgccacttgg cgcagcccag cccggaggcc ggtacccagg gagcctcctg gccccgcggt
      181 tctgtgcact cggggagagg aggggtgccc gggacaggat tggcaaactc cgccctccac
      241 ttactatttt gcttattttt ctttgtgcgc gcctgttagt ttgttaaacc agatctagtc
      301 cgagtctttt ctcctccctt ctcctccctc ctcctccccc cgccaacacc ccctccctgc
      361 tctttcttcc cctcctccct cctatccctc tgcaggagac tcttgcagtg acggaaagtt
      421 gcagcccctg gtagcgcctt gggggtctcc ccgcagtgtc caaccgccgc cacccctttc
      481 cgactacggc acttcggaga tctcctcctt cgccggtacc ctctctcact tcggccggat
      541 cgcctgtgcc cagaacgtcc cacccatgac gatgctcctg gacggaggcc cgcagttccc
      601 tgggctggga gtgggcagct tcggcgcgcc gcgccaccac gagatgccca accgtgagcc
      661 ggcaggcatg gggctgaatc ccttcgggga ctcaacccac gccgccgccg ccgccgccgc
      721 cgccgctgcc ttcaagctga gccctgccgc ggcgcacgat ctatcttcag gccagagctc
      781 ggctttcacg ccgcagggtt cgggctacgc caacgccctg ggccaccatc accaccacca
      841 tcaccatcat caccacacca gccaggtgcc cagctacggt ggcgctgcct ctgccgcctt
      901 caactcaacg cgcgagtttc tgttccgcca gcgcagctcc gggctcagtg aggcggcctc
      961 gggtggcggg cagcacgggc tcttcgccgg ctcggcgagc agcctgcatg ctccagctgg
     1021 catccccgag ccccctagct acttgctgtt tcccgggctg catgagcagg gcgctgggca
     1081 cccgtcgccc acagggcacg tggacaacaa ccaggtccac ctggggctgc gtggggagct
     1141 gttcggccgt gctgacccat accgcccagt ggccagcccg cgcacggacc cctacgcggc
     1201 cggcgctcag tttcctaact acagccccat gaacatgaac atgggagtga acgtggcggc
     1261 ccaccacggg cccggcgcct tcttccgtta tatgcggcag cctatcaagc aggagctgtc
     1321 gtgcaagtgg atcgacgagg ctcagctgag ccggcccaag aagagctgcg accggacctt
     1381 cagcaccatg catgagctgg tgacacatgt caccatggag catgtggggg gcccggagca
     1441 gaacaaccac gtctgctact gggaggagtg cccccgggag ggcaagtctt tcaaggcgaa
     1501 gtacaaactg gtcaaccaca tccgagtgca cacgggcgag aagcccttcc catgcccctt
     1561 cccgggctgc gggaagatct ttgcccgttc tgagaacctc aagatccaca agaggaccca
     1621 cacaggtgag aaacctttca aatgtgaatt tgaaggctgt gacagacgct ttgccaacag
     1681 cagcgaccgt aagaagcaca tgcatgtgca tacctcggac aagccctata tctgcaaagt
     1741 gtgcgacaag tcctacacgc acccgagctc cctgcgcaaa cacatgaagg ttcatgaatc
     1801 tcaagggtca gattcctccc ctgctgccag ttcaggctat gaatcttcca ctccacccgc
     1861 tatagcttct gcaaacagta aagataccac taaaacccct tctgcagttc aaactagcac
     1921 cagccacaac cctggacttc ctcctaattt taacgaatgg tacgtctgag gacaaacaca
     1981 aaccctgtta attatagaat ggaccaaata catttttaaa agaaaactga gaccaatcag
     2041 atggaaatgg agttttaagg caagaggcca tatatagggc tacatcttgt taattgcaat
     2101 tgtccaggaa ggttttgggc aagatccaaa agtagccatg cccttttctc aggatagaaa
     2161 atatgttttg gcatttgaag cattttttac aaaatcttta cactactttt tcttcccctt
     2221 cctcttgctc tctgcacacc ccattcttaa actcctccaa ttcattttaa cacttgtcct
     2281 gtttcttgag aggaagttat agaaggcttg ttggtggtgg tgatgttaaa ctgatggaaa
     2341 ttctttttcg ccttagtggt gattgtttaa actctcacag tcttaaaccg tgccaaagtc
     2401 ctgttatgtc ttgaactttt cctcaaagca ttacacttgt gaatgtattt ttgtctaata
     2461 gggtcgaaac tgttgttcag tattttttca ggctgaggat gtgatgttac tctacacatt
     2521 gtgacgttta gtatacagtt gccttttgta ataacttttt ttttgtaaat acatatccat
     2581 tgatgccata tttatcgttt gtaatttaat tattgctaca agtgccggga actgaacaat
     2641 atttatggat aaatgttttc taacaaattc tgtacagctt ttgattataa ctgctttagc
     2701 attaaaaatt gttttgaaag aagaacacaa tttacaattt tggaaccact gactcctttc
     2761 tcttgttttg taacagcctt cttctacaaa gaggagatgt gagcaaatta aatcttgttt
     2821 gttggtattt ataactcact cagatccctt ttttaattgt taaattattt ttctattaca
     2881 gtataaattc cttacagtgt cagtttccat ctgggaagac tctcctttct ttatctctat
     2941 ctcagatggt tgtttaactg cgagtttaaa tgtgtttgtc ctggattttc ggcatgcaaa
     3001 tcaaatatta ctgatcaatt cagttagtgg ccatgacatc tcaatcttgt acttcaaaga
     3061 ctgagaagct ggatttaatc atccctgccc tacatatata aacataaggt aacctactga
     3121 attttatgtc ccttagttct ttattacctt acataaaaat gaaaattgcg gcaggatgca
     3181 tgtctgtctg ttctatctag agatcaccca tatacctata tatgtttgta tctatgactt
     3241 atctaatctg cctatcaatc tatctagtag ctatctatat attttcaaaa gatagcttat
     3301 gtctaaaaca gtggtgatga gtaaggccag ttgagcattg cttacttatg gttaaagtgc
     3361 ttcttaaaag aaccatagtc catttacaat tttggaaggc aaaggctgat ttgtttgctg
     3421 tatatagttc aattcataat tatcgcaatt atccataaca tttatatagc ggtgtaataa
     3481 ctgcagcagt tctgaaatga tgctatggga aaaaaattgc aaaatatgta tttttaaagt
     3541 tcatgatttg taggcaaaga tgttaagagc attgtttcca ttaaaatcaa taacaatgaa
     3601 aaacggttgt ttgctttgtg ataaaatgtt aacaatccat ttaatcttca gtgaagcaac
     3661 tcatttggac aaacagttct tttacagtgg ttatatggaa aagaaattga ttgctatttt
     3721 ggggggctgg agtgggtaga gtattgagac cttttttatt agggtgctgt ttgttattga
     3781 gagcccaatc tctgcatgaa taacagaaag gtggacataa ggaattgtaa agtatttaga
     3841 atgtattgaa taggcttaag tacctccttt aaggggcaat gctctaggtt tttggtggca
     3901 gtcaatttgg tattatatat gatcattttc aattctagaa ttttgtttat tgttcttttt
     3961 gaagaaataa agtcttggca catcttattt atgttataac a
//
