LOCUS       NM_001387690            3689 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens katanin catalytic subunit A1 like 2 (KATNAL2),
            transcript variant 15, mRNA.
ACCESSION   NM_001387690 XM_006722554
VERSION     NM_001387690.1
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 3689)
  AUTHORS   DeSpenza,T. Jr., Singh,A., Allington,G., Zhao,S., Lee,J.,
            Kiziltug,E., Prina,M.L., Desmet,N., Dang,H.Q., Fields,J.,
            Nelson-Williams,C., Zhang,J., Mekbib,K.Y., Dennis,E., Mehta,N.H.,
            Duy,P.Q., Shimelis,H., Walsh,L.K., Marlier,A., Deniz,E.,
            Lake,E.M.R., Constable,R.T., Hoffman,E.J., Lifton,R.P.,
            Gulledge,A., Fiering,S., Moreno-De-Luca,A., Haider,S., Alper,S.L.,
            Jin,S.C., Kahle,K.T. and Luikart,B.W.
  TITLE     Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and
            disrupt neuronal connectivity by impairing ciliary microtubule
            dynamics
  JOURNAL   Proc Natl Acad Sci U S A 121 (27), e2314702121 (2024)
   PUBMED   38916997
  REMARK    GeneRIF: Pathogenic variants in autism gene KATNAL2 cause
            hydrocephalus and disrupt neuronal connectivity by impairing
            ciliary microtubule dynamics.
REFERENCE   2  (bases 1 to 3689)
  AUTHORS   Wei,X., Liu,W., Zhu,X., Li,Y., Zhang,X., Chen,J., Isachenko,V.,
            Sha,Y. and Lu,Z.
  TITLE     Biallelic mutations in KATNAL2 cause male infertility due to
            oligo-astheno-teratozoospermia
  JOURNAL   Clin Genet 100 (4), 376-385 (2021)
   PUBMED   34096614
  REMARK    GeneRIF: Biallelic mutations in KATNAL2 cause male infertility due
            to oligo-astheno-teratozoospermia.
REFERENCE   3  (bases 1 to 3689)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3689)
  AUTHORS   Jiang,K., Rezabkova,L., Hua,S., Liu,Q., Capitani,G.,
            Altelaar,A.F.M., Heck,A.J.R., Kammerer,R.A., Steinmetz,M.O. and
            Akhmanova,A.
  TITLE     Microtubule minus-end regulation at spindle poles by an
            ASPM-katanin complex
  JOURNAL   Nat Cell Biol 19 (5), 480-492 (2017)
   PUBMED   28436967
  REMARK    Erratum:[Nat Cell Biol. 2017 Jun 29;19(7):873. doi:
            10.1038/ncb3557.. PMID: 28659643]
REFERENCE   5  (bases 1 to 3689)
  AUTHORS   Williams,M.R., Fricano-Kugler,C.J., Getz,S.A., Skelton,P.D.,
            Lee,J., Rizzuto,C.P., Geller,J.S., Li,M. and Luikart,B.W.
  TITLE     A Retroviral CRISPR-Cas9 System for Cellular Autism-Associated
            Phenotype Discovery in Developing Neurons
  JOURNAL   Sci Rep 6, 25611 (2016)
   PUBMED   27161796
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3689)
  AUTHORS   Ververis,A., Christodoulou,A., Christoforou,M., Kamilari,C.,
            Lederer,C.W. and Santama,N.
  TITLE     A novel family of katanin-like 2 protein isoforms (KATNAL2),
            interacting with nucleotide-binding proteins Nubp1 and Nubp2, are
            key regulators of different MT-based processes in mammalian cells
  JOURNAL   Cell Mol Life Sci 73 (1), 163-184 (2016)
   PUBMED   26153462
REFERENCE   7  (bases 1 to 3689)
  AUTHORS   Ropers,H.H. and Wienker,T.
  TITLE     Penetrance of pathogenic mutations in haploinsufficient genes for
            intellectual disability and related disorders
  JOURNAL   Eur J Med Genet 58 (12), 715-718 (2015)
   PUBMED   26506440
REFERENCE   8  (bases 1 to 3689)
  AUTHORS   Lendvai,A., Johannes,F., Grimm,C., Eijsink,J.J., Wardenaar,R.,
            Volders,H.H., Klip,H.G., Hollema,H., Jansen,R.C., Schuuring,E.,
            Wisman,G.B. and van der Zee,A.G.
  TITLE     Genome-wide methylation profiling identifies hypermethylated
            biomarkers in high-grade cervical intraepithelial neoplasia
  JOURNAL   Epigenetics 7 (11), 1268-1278 (2012)
   PUBMED   23018867
  REMARK    GeneRIF: KATNAL2 methylation correlates with severity of cervical
            intraepithelial neoplasia
REFERENCE   9  (bases 1 to 3689)
  AUTHORS   Neale,B.M., Kou,Y., Liu,L., Ma'ayan,A., Samocha,K.E., Sabo,A.,
            Lin,C.F., Stevens,C., Wang,L.S., Makarov,V., Polak,P., Yoon,S.,
            Maguire,J., Crawford,E.L., Campbell,N.G., Geller,E.T.,
            Valladares,O., Schafer,C., Liu,H., Zhao,T., Cai,G., Lihm,J.,
            Dannenfelser,R., Jabado,O., Peralta,Z., Nagaswamy,U., Muzny,D.,
            Reid,J.G., Newsham,I., Wu,Y., Lewis,L., Han,Y., Voight,B.F.,
            Lim,E., Rossin,E., Kirby,A., Flannick,J., Fromer,M., Shakir,K.,
            Fennell,T., Garimella,K., Banks,E., Poplin,R., Gabriel,S.,
            DePristo,M., Wimbish,J.R., Boone,B.E., Levy,S.E., Betancur,C.,
            Sunyaev,S., Boerwinkle,E., Buxbaum,J.D., Cook,E.H. Jr., Devlin,B.,
            Gibbs,R.A., Roeder,K., Schellenberg,G.D., Sutcliffe,J.S. and
            Daly,M.J.
  TITLE     Patterns and rates of exonic de novo mutations in autism spectrum
            disorders
  JOURNAL   Nature 485 (7397), 242-245 (2012)
   PUBMED   22495311
  REMARK    GeneRIF: results from de novo events and a large parallel
            case-control study provide strong evidence in favour of CHD8 and
            KATNAL2 as genuine autism risk factors
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 3689)
  AUTHORS   de Moor,M.H., Costa,P.T., Terracciano,A., Krueger,R.F., de
            Geus,E.J., Toshiko,T., Penninx,B.W., Esko,T., Madden,P.A.,
            Derringer,J., Amin,N., Willemsen,G., Hottenga,J.J., Distel,M.A.,
            Uda,M., Sanna,S., Spinhoven,P., Hartman,C.A., Sullivan,P.,
            Realo,A., Allik,J., Heath,A.C., Pergadia,M.L., Agrawal,A., Lin,P.,
            Grucza,R., Nutile,T., Ciullo,M., Rujescu,D., Giegling,I., Konte,B.,
            Widen,E., Cousminer,D.L., Eriksson,J.G., Palotie,A., Peltonen,L.,
            Luciano,M., Tenesa,A., Davies,G., Lopez,L.M., Hansell,N.K.,
            Medland,S.E., Ferrucci,L., Schlessinger,D., Montgomery,G.W.,
            Wright,M.J., Aulchenko,Y.S., Janssens,A.C., Oostra,B.A.,
            Metspalu,A., Abecasis,G.R., Deary,I.J., Raikkonen,K., Bierut,L.J.,
            Martin,N.G., van Duijn,C.M. and Boomsma,D.I.
  TITLE     Meta-analysis of genome-wide association studies for personality
  JOURNAL   Mol Psychiatry 17 (3), 337-349 (2012)
   PUBMED   21173776
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090373.11 and AC012254.12.
            
            On Oct 8, 2020 this sequence version replaced XM_006722554.4.
            
            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 :: SRR14038191.545981.1,
                                           SRR18074968.2125272.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000683218.1/ ENSP00000508137.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-325               AC090373.11        51987-52311         c
            326-815             AC090373.11        23367-23856         c
            816-885             AC090373.11        22990-23059         c
            886-956             AC012254.12        99670-99740         c
            957-1123            AC012254.12        93151-93317         c
            1124-1166           AC012254.12        91759-91801         c
            1167-1284           AC012254.12        87845-87962         c
            1285-1383           AC012254.12        86543-86641         c
            1384-1482           AC012254.12        83127-83225         c
            1483-1560           AC012254.12        82836-82913         c
            1561-1659           AC012254.12        79078-79176         c
            1660-1723           AC012254.12        76914-76977         c
            1724-1842           AC012254.12        76597-76715         c
            1843-1934           AC012254.12        70829-70920         c
            1935-2045           AC012254.12        68736-68846         c
            2046-2208           AC012254.12        46792-46954         c
            2209-2311           AC012254.12        45841-45943         c
            2312-3689           AC012254.12        43954-45331         c
FEATURES             Location/Qualifiers
     source          1..3689
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     gene            1..3689
                     /gene="KATNAL2"
                     /note="katanin catalytic subunit A1 like 2"
                     /db_xref="GeneID:83473"
                     /db_xref="HGNC:HGNC:25387"
                     /db_xref="MIM:614697"
     exon            1..325
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            326..815
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            816..885
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             835..2451
                     /gene="KATNAL2"
                     /EC_number="5.6.1.1"
                     /note="isoform 13 is encoded by transcript variant 15;
                     katanin p60 ATPase-containing subunit A-like 2; p60
                     katanin-like 2; katanin p60 subunit A like 2; katanin
                     catalytic subunit A like 2"
                     /codon_start=1
                     /product="katanin p60 ATPase-containing subunit A-like 2
                     isoform 13"
                     /protein_id="NP_001374619.1"
                     /db_xref="CCDS:CCDS92456.1"
                     /db_xref="GeneID:83473"
                     /db_xref="HGNC:HGNC:25387"
                     /db_xref="MIM:614697"
                     /translation="MELSYQTLKFTHQAREACEMRTEARRKNLLILISHYLTQEGYID
                     TANALEQETKLGLRRFEVCDNIDLETILMEYESYYFVKFQKYPKIVKKSSDTAENNLP
                     QRSRGKTRRMMNDSCQNLPKINQQRPRSKTTAGKTGDTKSLNKEHPNQEVVDNTRLES
                     ANFGLHISRIRKDSGEENAHPRRGQIIDFQGLLTDAIKGATSELALNTFDHNPDPSER
                     LLKPLSAFIGMNSEMRELAAVVSRDIYLHNPNIKWNDIIGLDAAKQLVKEAVVYPIRY
                     PQLFTGILSPWKGLLLYGPPGTGKTLLAKAVATECKTTFFNISASTIVSKWRGDSEKL
                     VRVLFELARYHAPSTIFLDELESVMSQRGTASGGEHEGSLRMKTELLVQMDGLARSED
                     LVFVLAASNLPWELDCAMLRRLEKRILVDLPSREARQAMIYHWLPPVSKSRALELHTE
                     LEYSVLSQETEGYSGSDIKLVCREAAMRPVRKIFDALENHQSESSDLPRIQLDIVTTA
                     DFLDVLTHTKPSAKNLAQRYSDWQREFESV"
     exon            886..956
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1123
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1124..1166
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1167..1284
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1383
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1384..1482
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1560
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..1659
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1660..1723
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1724..1842
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1843..1934
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1935..2045
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..2208
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2209..2311
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2312..3689
                     /gene="KATNAL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2719..2724
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KATNAL2"
                     /note="hexamer: CATAAA"
     polyA_site      2738
                     /gene="KATNAL2"
                     /note="major polyA site"
     regulatory      3644..3649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KATNAL2"
                     /note="hexamer: AATATA"
     polyA_site      3663
                     /gene="KATNAL2"
     regulatory      3669..3674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KATNAL2"
                     /note="hexamer: AATAAA"
     polyA_site      3689
                     /gene="KATNAL2"
ORIGIN      
        1 agtccgcgcg gcgacagcgc ccgcccgcgc ctgccccggc gtgctgcccc gcggcttggc
       61 cccgctcggc cccaggtcgt gccttccctc cccggcggag gcccctgcgg actgcctaga
      121 gctgggtcgc aactgaggcg ttatccgcgg gcctggcctc gggaagtggc ggggaggaag
      181 aagaggcggc cgggacgcgt gacaggagca ttcgggaaga ttcttacggt gcccttcacg
      241 cggtgcctat ggacggagaa agccgccgca aataaaacca tcccccagag tagttgtggc
      301 ggaataatct aaatatgggt gttggattga ggaaacttga atatttttgt atcctgaagg
      361 gagaaatgga tgaagaagaa atggatgaag aagaccgaag ataatgatga agggataatt
      421 tggaatagga ttcacagcaa gagagacaga agggaaagac attgaagaaa cagactagtt
      481 aacacatgaa aaaaatagag cagaggaaaa cacgtccatg tttttccacg tctaatgaga
      541 acaggtctga tgtgaaagga attggaggag aaggggaagt ttggtgatgc acagtttgca
      601 tcccagaagg ctcttgacaa ccaaagtgtc cacagcagat tcgtccagtc tagatagacc
      661 atgcacagag aatttcaaag aaaagcagaa tagatttcca aacctttacc ctaatccagg
      721 gaggagaaga cgggacgtca aaatatagtc ttgggtatag aagcattggg tcgcaaagac
      781 ctgaacaacg gctgaaatca aggacaaata ttatgggtcc tagcacagtg tctgatggag
      841 ctttcctacc agaccctgaa attcacgcat caggcgcggg aagcgtgcga gatgaggaca
      901 gaagcacgac gaaaaaatct tctcattttg atttcgcatt atttaacaca agaagggtat
      961 atcgatacag caaatgcttt ggagcaagaa actaaactgg ggttacgacg gtttgaagtt
     1021 tgtgacaaca ttgatcttga aactattttg atggaatatg agagttatta ttttgtaaaa
     1081 tttcagaaat accccaaaat tgtcaaaaag tcatcagaca cagcagaaaa taatttaccg
     1141 caaagaagta gagggaagac cagaaggatg atgaacgaca gttgtcaaaa tcttcccaag
     1201 atcaatcagc agaggccccg gtccaaaacc acagcgggga agacagggga caccaaatcg
     1261 ctcaataagg agcatcctaa tcaggaggta gttgataaca ctcgcctgga aagtgccaac
     1321 ttcggcctac atatatcaag aatccgtaaa gacagtggag aggaaaatgc ccacccacga
     1381 agaggccaaa tcattgactt ccaagggctg ctcacagatg ccatcaaggg agcaaccagt
     1441 gaacttgcct tgaacacctt cgaccataat ccagacccct cagaacgact gctgaaacct
     1501 ctgagtgcat ttattggcat gaacagtgag atgcgagaat tggcagccgt ggtgagccgg
     1561 gacatttatc tccataatcc aaacataaag tggaatgaca ttattggact tgatgcagcc
     1621 aagcagttag tcaaagaagc tgttgtgtat cctataaggt atccacagct atttacagga
     1681 attctttctc cctggaaagg actactgctg tacggccctc caggtacagg aaagacttta
     1741 ctggccaaag ctgtggccac tgaatgtaaa acaaccttct ttaacatttc tgcatccacc
     1801 attgtcagca aatggagagg ggattcagaa aaactcgttc gggtgttatt tgagcttgcc
     1861 cgctaccacg ccccatccac gatcttcctg gacgagctgg agtcggtgat gagtcagaga
     1921 ggcacagctt ctgggggaga acatgaagga agcctgcgga tgaagacaga gttactggtg
     1981 cagatggatg ggctggcacg ctcagaagat ctcgtatttg tcttagcagc ttctaacctg
     2041 ccgtgggagc tggactgtgc catgttacgc cgcctggaga agaggattct ggtcgatctc
     2101 cccagccggg aggccaggca ggccatgatc taccactggc tgcctcctgt gagcaagagc
     2161 agggccttgg agctgcacac agagctggag tacagtgtgc tgagccagga gactgagggc
     2221 tactcaggct cagatattaa gctcgtctgc agggaagcag ccatgcggcc cgtgaggaag
     2281 atctttgatg cacttgaaaa tcaccagtca gaaagcagcg acttacccag gatccagttg
     2341 gatatagtaa ccactgccga ctttctggat gtgctaactc acaccaagcc ctccgcaaag
     2401 aatctggctc agagatactc agactggcaa agagagttcg agtctgtctg aaaccacatt
     2461 taccctgacc tggccacaaa ggcaaccaca aagacctcct agtttattaa tgtccgtggg
     2521 agaacaaaat gattggaatg gaaaagagaa aattattttt gaagactgga ttaacttgag
     2581 ccactgtatt gttttggata gctgagatat atttattaac ttaccattat cgatgtcagc
     2641 aaaatattga gagtttcagt tacatacata tatgtgctat tgggtcatac aatggagatt
     2701 tttctgacaa ttagactcca taaaatttta atgaacaatt ttctgtaatg ttactcattt
     2761 gtaaactttt taagaaaaag atgtacttag aaaagttgtg ttggccacac acaggatgac
     2821 cctgagttgg ggcagccaag tagaagctaa gcttgacagg cactgcccag ctgacagtcc
     2881 cagggtgaag gaggacggaa gcagggaagg caatgcagtc tgtttctcat tccggacaat
     2941 attctgaatc tcatcagctc cccctaattc tgactccatc cagctttgtc agcagcaaac
     3001 ccctcccaaa ctaagcccca ctcagaaatg tcactgagca ttctgatgct agagctaata
     3061 gccagggtga ctagcacacc atcaccatca gctgccagtc tgattgtttt gggttctggc
     3121 ccccaataac atcttttcac tcttcacacc tcacatccgg tgtgctctgc ccttctcttt
     3181 ccattgccgc agcttctcat cagatccaaa gcttaggatg gggcacctaa gcttcgagaa
     3241 cattcatccc aagtcttccc tgctcttagg ctcttccccc tctccttaag gggttataaa
     3301 caactagacg catctctctc agaaacccac aatccgaggc atctactttc aacccttgat
     3361 aaattttgaa ggcttctact aagtaatgcc acttcttttc ccccactaga acttacctat
     3421 gggaaatcac cttcttttct cttccttgcc ttgtcttcat catccctgca gacagactct
     3481 tcaagaggaa aaacctccag aaagagacac tttggatagc taagtatccc aaaggatttt
     3541 acccttttaa acaaaaccaa agcatttttt tcggtatcga ttattttgag attattctca
     3601 aatgcctctt taaacatcat ttcatggaaa atgtcaaatt gaaaatatac cttatttaac
     3661 aaattgaaaa taaaaaagat ttcatctca
//
