LOCUS       NM_001324129            1993 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens ankyrin repeat and sterile alpha motif domain
            containing 3 (ANKS3), transcript variant 5, mRNA.
ACCESSION   NM_001324129 XM_011522376
VERSION     NM_001324129.2
KEYWORDS    RefSeq.
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 1993)
  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 1993)
  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 1993)
  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 1993)
  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 1993)
  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 and AC023830.9.
            
            On Jun 1, 2019 this sequence version replaced NM_001324129.1.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.950030.1,
                                           SRR18074969.512699.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-116               AC020663.1         26917-27032         c
            117-198             AC020663.1         17511-17592         c
            199-334             AC020663.1         6812-6947           c
            335-493             AC023830.9         174803-174961       c
            494-634             AC023830.9         171810-171950       c
            635-744             AC023830.9         171142-171251       c
            745-909             AC023830.9         170678-170842       c
            910-1034            AC023830.9         168760-168884       c
            1035-1176           AC023830.9         168508-168649       c
            1177-1349           AC023830.9         168135-168307       c
            1350-1435           AC023830.9         167685-167770       c
            1436-1519           AC023830.9         167041-167124       c
            1520-1607           AC023830.9         166725-166812       c
            1608-1993           AC023830.9         166219-166604       c
FEATURES             Location/Qualifiers
     source          1..1993
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1993
                     /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..116
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            117..198
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     CDS             145..1596
                     /gene="ANKS3"
                     /note="isoform 4 is encoded by transcript variant 5;
                     ankyrin repeat and SAM domain-containing protein 3"
                     /codon_start=1
                     /product="ankyrin repeat and SAM domain-containing protein
                     3 isoform 4"
                     /protein_id="NP_001311058.1"
                     /db_xref="GeneID:124401"
                     /db_xref="HGNC:HGNC:29422"
                     /db_xref="MIM:617310"
                     /translation="MEAAAAGHEIIVQYFLNHGVKVDARDHSGATARMLAKQYGHMKI
                     VALMDTYSPSLPKSLYRSPEKYEDLSSSDESCPAPQRQRPCRKKGVSIHEGPRALARI
                     TGIGLGGRAPRPRYEQAPPRGYVTFNSSGENPLEEEGLCCRDVTSPINERDVESSSSS
                     SSREEHAFCANLGPVQSSSSSEGLARAQGLSSEASVESNEDSDHACKSSARKQAKSYM
                     KTKNPDSQWPPRAATDREGFLAESSPQTQRAPYSGPQDLAALLEQIGCLKYLQVFEEQ
                     DVDLRIFLTLTESDLKEIGITLFGPKRKMTSAIARWHSSARPPGDALELAYADRLEAE
                     MQELAIQLHKRCEEVEATRGQVCQEQELRAVVESCLLEQDRAREDLQARLRETWALAR
                     DAALVLDQLRACQAELSSRVRQDQPPGAATLGLAVPPADSKGWQASLQAMSLPELSGA
                     LEDRVREMGQALCLVTQSLEKLQVLNGKKWRET"
     exon            199..334
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            335..493
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            494..634
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            635..744
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            745..909
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1034
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1176
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1349
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..1435
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1436..1519
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1520..1607
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1608..1993
                     /gene="ANKS3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1973..1978
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS3"
                     /note="hexamer: AATAAA"
     polyA_site      1993
                     /gene="ANKS3"
                     /note="major polyA site"
ORIGIN      
        1 acttccgggg cgggtgccgg gggcggtgcc ccggcgaggg agcgtggcgg cgagctgttt
       61 ggggggggtt ggcgacggca gcccgagggc ggcgcaaggc ctgaggccca gcacagggag
      121 ccgatatgtg gatttactcc cttgatggaa gcagctgctg ctggccatga gataatcgtg
      181 cagtattttc tgaatcacgg agtcaaggtg gacgcgagag accacagtgg agccacagcc
      241 cggatgctgg ccaagcagta cggacacatg aagatcgtgg ccttgatgga cacttactcg
      301 ccctctctgc ccaagagcct ctatcggagc ccagaaaagt acgaagatct gagctcttct
      361 gacgagtcct gccctgctcc tcagagacag aggccttgcc ggaagaaggg tgtcagcatc
      421 cacgagggac cgcgagccct ggccaggatc acaggcattg gcctgggcgg cagagcccca
      481 cggcctcgct atgagcaggc tcctccccgt ggctatgtca ccttcaacag cagtggcgag
      541 aaccccctgg aagaagaggg cctctgctgc cgggatgtca cctcccccat caatgagcgg
      601 gatgtggaga gcagcagcag cagcagcagt cgggaggaac atgctttctg tgccaacctg
      661 gggcccgtcc agagcagcag cagcagcgag ggcctggcca gagcccaggg gctcagcagc
      721 gaagcttctg tggagagcaa cgaggactcg gatcatgcct gtaaaagctc agctcgcaaa
      781 caagctaaaa gttacatgaa gaccaagaat cctgacagcc agtggcctcc ccgcgctgca
      841 actgacaggg aaggctttct cgctgagtcc agcccccaga ctcagagggc cccctactca
      901 ggaccccagg accttgccgc actgctggag cagatcgggt gtctgaagta cctgcaggtg
      961 tttgaggagc aggacgtgga cctccgcatc tttctgaccc tcactgagag cgacctgaag
     1021 gaaattggca tcacgctgtt tgggcccaag aggaagatga cgtccgccat tgcccgctgg
     1081 cacagcagtg cccgcccacc cggggatgcc ctggagctgg cctacgccga ccggctggag
     1141 gctgagatgc aggagctcgc catccagctg cacaagcgct gcgaggaggt agaggccacg
     1201 cggggccagg tgtgtcagga gcaggagctg cgcgccgtgg tggagagctg cctgctggag
     1261 caggaccgcg cccgcgagga cctccaggcc cggctgcggg agacgtgggc cctggcccgg
     1321 gatgctgccc tcgtcctgga ccagctgcga gcctgtcaag ctgagctgtc atctcgagtg
     1381 aggcaggacc agccccctgg tgcagccact ctgggcctag ccgtcccccc agctgactcc
     1441 aagggctggc aagcgtccct gcaggccatg agcctccccg agctctcggg agccctggag
     1501 gaccgtgtcc gtgagatggg gcaagcactg tgcttagtga cccagagcct ggagaagctg
     1561 caggtgctga acgggaagaa gtggcgggag acctagcctg cgggccgaat ctgacgttgg
     1621 gtgattggtc caccctgaag ctgtgtgcca gggagtgagg aggacagtga gcaggtagct
     1681 gccatgtgca gcccaggccc agtgggggcc agaggatcag gccccgggag cagccggcag
     1741 acagaggcaa gacgggggct gcggccctgg ctcggcagct cgggccagca ctgaggcggg
     1801 acgagggcct cacccagaac ctcgtggtga ggcccagagt tcatgggctg ccctggccca
     1861 taccaggcag ggccctgggg ggaaagtgta tccatataca cgcacaggtg ccaactgagg
     1921 tgggacctta ggaatgagga ctggggcacc tggaaaatgc cattttttgg aaaataaaat
     1981 ttaagaacag cta
//
