LOCUS       NM_133450               2772 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ankyrin repeat and sterile alpha motif domain
            containing 3 (ANKS3), transcript variant 1, mRNA.
ACCESSION   NM_133450 XM_375299
VERSION     NM_133450.4
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 2772)
  AUTHORS   Shamseldin,H.E., Yakulov,T.A., Hashem,A., Walz,G. and Alkuraya,F.S.
  TITLE     ANKS3 is mutated in a family with autosomal recessive laterality
            defect
  JOURNAL   Hum Genet 135 (11), 1233-1239 (2016)
   PUBMED   27417436
  REMARK    GeneRIF: Consistent with the proposed role of the ANKS3 variant in
            the pathogenesis of the reported family's phenotype, we show that
            the mutant RNA failed to rescue the laterality defect in anks3
            morphants compared to wild-type RNA. Furthermore, we describe a new
            mutant anks3 line that also displays laterality defect in the
            homozygous state
REFERENCE   2  (bases 1 to 2772)
  AUTHORS   Ramachandran,H., Engel,C., Muller,B., Dengjel,J., Walz,G. and
            Yakulov,T.A.
  TITLE     Anks3 alters the sub-cellular localization of the Nek7 kinase
  JOURNAL   Biochem Biophys Res Commun 464 (3), 901-907 (2015)
   PUBMED   26188091
REFERENCE   3  (bases 1 to 2772)
  AUTHORS   Leettola,C.N., Knight,M.J., Cascio,D., Hoffman,S. and Bowie,J.U.
  TITLE     Characterization of the SAM domain of the PKD-related protein ANKS6
            and its interaction with ANKS3
  JOURNAL   BMC Struct Biol 14, 17 (2014)
   PUBMED   24998259
  REMARK    GeneRIF: Study finds that ANKS3-SAM polymerizes and ANKS6-SAM can
            bind to one end of the polymer; study presents crystal structures
            of both the ANKS3-SAM polymer and the ANKS3-SAM/ANKS6-SAM complex,
            revealing the molecular details of their association.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2772)
  AUTHORS   Beausoleil,S.A., Villen,J., Gerber,S.A., Rush,J. and Gygi,S.P.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   5  (bases 1 to 2772)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020663.1, AK123496.1 and AI560632.1.
            
            On May 17, 2019 this sequence version replaced NM_133450.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK123496.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304283.9/ ENSP00000304586.4
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-109               AC020663.1         26924-27032         c
            110-2771            AK123496.1         2-2663
            2772-2772           AI560632.1         2-2                 c
FEATURES             Location/Qualifiers
     source          1..2772
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2772
                     /gene="ANKS3"
                     /note="ankyrin repeat and sterile alpha motif domain
                     containing 3"
                     /db_xref="GeneID:124401"
                     /db_xref="HGNC:HGNC:29422"
                     /db_xref="MIM:617310"
     exon            1..334
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            335..402
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            403..574
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     CDS             405..2375
                     /gene="ANKS3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ankyrin repeat and SAM domain-containing protein 3"
                     /codon_start=1
                     /product="ankyrin repeat and SAM domain-containing protein
                     3 isoform 1"
                     /protein_id="NP_597707.1"
                     /db_xref="CCDS:CCDS10520.1"
                     /db_xref="GeneID:124401"
                     /db_xref="HGNC:HGNC:29422"
                     /db_xref="MIM:617310"
                     /translation="MSELSDEASEPELLNRSLSMWHGLGTQVSGEELDVPLDLHTAAS
                     IGQYEVVKECVQRRELDLNKKNGGGWTPLMYASYIGHDTIVHLLLEAGVSVNVPTPEG
                     QTPLMLASSCGNESIAYFLLQQGAELEMKDIQGWTALFHCTSAGHQHMVRFLLDSGAN
                     ANVREPICGFTPLMEAAAAGHEIIVQYFLNHGVKVDARDHSGATARMLAKQYGHMKIV
                     ALMDTYSPSLPKSLYRSPEKYEDLSSSDESCPAPQRQRPCRKKGVSIHEGPRALARIT
                     GIGLGGRAPRPRYEQAPPRGYVTFNSSGENPLEEEGLCCRDVTSPINERDVESSSSSS
                     SREEHAFCANLGPVQSSSSSEGLARAQGLSSEASVESNEDSDHACKSSARKQAKSYMK
                     TKNPDSQWPPRAATDREGFLAESSPQTQRAPYSGPQDLAALLEQIGCLKYLQVFEEQD
                     VDLRIFLTLTESDLKEIGITLFGPKRKMTSAIARWHSSARPPGDALELAYADRLEAEM
                     QELAIQLHKRCEEVEATRGQVCQEQELRAVVESCLLEQDRAREDLQARLRETWALARD
                     AALVLDQLRACQAELSSRVRQDQPPGAATLGLAVPPADSKGWQASLQAMSLPELSGAL
                     EDRVREMGQALCLVTQSLEKLQVLNGKKWRET"
     exon            575..773
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            774..895
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            896..977
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            978..1113
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1272
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1413
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1523
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1524..1688
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..1813
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1814..1955
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1956..2128
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            2129..2214
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            2215..2298
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            2299..2386
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            2387..2772
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2752..2757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS3"
                     /note="hexamer: AATAAA"
     polyA_site      2772
                     /gene="ANKS3"
                     /note="major polyA site"
ORIGIN      
        1 acttccgggg cgggtgccgg gggcggtgcc ccggcgaggg agcgtggcgg cgagctgttt
       61 ggggggggtt ggcgacggca gcccgagggc ggcgcaaggc ctgaggccca gcacaggtgg
      121 gttccgcggc ggcccggccc cagcacttgc cggcacctgc agcccgccta gacccggcgc
      181 tcgggcgtcc cgcgctgcac ttgctcgccg cgtgactgga ggaccgagcc cccacatttt
      241 ctttatgtgg ttgtggtggg ggcacagtaa tgccctgtgc gccgtagcgt tcctgtgggg
      301 atgtggccgg ggggcgtcgg gaagcgtcac tgctgccagg tgcagtggct cacgcctata
      361 tttccaggac tttgagaggc tgaggcgggc ggatcacctg agtgatgtcc gagctcagcg
      421 atgaagccag cgagccggaa ctcctgaacc gcagcttgtc catgtggcac gggctcggga
      481 cacaggtcag cggggaggag ctggatgtcc ccctggatct tcacacagct gcttccattg
      541 gccagtatga agtggtgaag gagtgtgtgc agcggagaga gttagatttg aataagaaga
      601 atggtggtgg ctggaccccg ctgatgtatg cctcctacat tggccacgac acaatcgtgc
      661 acctgctgct tgaggcgggg gtgagtgtga atgtgccgac cccagaaggg cagactccac
      721 tgatgctggc ctccagctgt ggcaacgaga gcatcgccta ctttcttctc cagcaaggtg
      781 cagagctaga aatgaaagac atccagggct ggacagccct cttccactgt accagcgccg
      841 ggcaccagca catggtcagg ttcctcttgg acagtggagc caatgccaac gtgagggagc
      901 cgatatgtgg atttactccc ttgatggaag cagctgctgc tggccatgag ataatcgtgc
      961 agtattttct gaatcacgga gtcaaggtgg acgcgagaga ccacagtgga gccacagccc
     1021 ggatgctggc caagcagtac ggacacatga agatcgtggc cttgatggac acttactcgc
     1081 cctctctgcc caagagcctc tatcggagcc cagaaaagta cgaagatctg agctcttctg
     1141 acgagtcctg ccctgctcct cagagacaga ggccttgccg gaagaagggt gtcagcatcc
     1201 acgagggacc gcgagccctg gccaggatca caggcattgg cctgggcggc agagccccac
     1261 ggcctcgcta tgagcaggct cctccccgtg gctatgtcac cttcaacagc agtggcgaga
     1321 accccctgga agaagagggc ctctgctgcc gggatgtcac ctcccccatc aatgagcggg
     1381 atgtggagag cagcagcagc agcagcagtc gggaggaaca tgctttctgt gccaacctgg
     1441 ggcccgtcca gagcagcagc agcagcgagg gcctggccag agcccagggg ctcagcagcg
     1501 aagcttctgt ggagagcaac gaggactcgg atcatgcctg taaaagctca gctcgcaaac
     1561 aagctaaaag ttacatgaag accaagaatc ctgacagcca gtggcctccc cgcgctgcaa
     1621 ctgacaggga aggctttctc gctgagtcca gcccccagac tcagagggcc ccctactcag
     1681 gaccccagga ccttgccgca ctgctggagc agatcgggtg tctgaagtac ctgcaggtgt
     1741 ttgaggagca ggacgtggac ctccgcatct ttctgaccct cactgagagc gacctgaagg
     1801 aaattggcat cacgctgttt gggcccaaga ggaagatgac gtccgccatt gcccgctggc
     1861 acagcagtgc ccgcccaccc ggggatgccc tggagctggc ctacgccgac cggctggagg
     1921 ctgagatgca ggagctcgcc atccagctgc acaagcgctg cgaggaggta gaggccacgc
     1981 ggggccaggt gtgtcaggag caggagctgc gcgccgtggt ggagagctgc ctgctggagc
     2041 aggaccgcgc ccgcgaggac ctccaggccc ggctgcggga gacgtgggcc ctggcccggg
     2101 atgctgccct cgtcctggac cagctgcgag cctgtcaagc tgagctgtca tctcgagtga
     2161 ggcaggacca gccccctggt gcagccactc tgggcctagc cgtcccccca gctgactcca
     2221 agggctggca agcgtccctg caggccatga gcctccccga gctctcggga gccctggagg
     2281 accgtgtccg tgagatgggg caagcactgt gcttagtgac ccagagcctg gagaagctgc
     2341 aggtgctgaa cgggaagaag tggcgggaga cctagcctgc gggccgaatc tgacgttggg
     2401 tgattggtcc accctgaagc tgtgtgccag ggagtgagga ggacagtgag caggtagctg
     2461 ccatgtgcag cccaggccca gtgggggcca gaggatcagg ccccgggagc agccggcaga
     2521 cagaggcaag acgggggctg cggccctggc tcggcagctc gggccagcac tgaggcggga
     2581 cgagggcctc acccagaacc tcgtggtgag gcccagagtt catgggctgc cctggcccat
     2641 accaggcagg gccctggggg gaaagtgtat ccatatacac gcacaggtgc caactgaggt
     2701 gggaccttag gaatgaggac tggggcacct ggaaaatgcc attttttgga aaataaaatt
     2761 taagaacagc ta
//
