LOCUS       NM_001368655            3050 bp    mRNA    linear   ROD 09-FEB-2025
DEFINITION  Mus musculus katanin p60 subunit A-like 2 (Katnal2), transcript
            variant 1, mRNA.
ACCESSION   NM_001368655 XM_006526437
VERSION     NM_001368655.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3050)
  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 3050)
  AUTHORS   Kang,R., Kim,K., Jung,Y., Choi,S.H., Lee,C., Im,G.H., Shin,M.,
            Ryu,K., Choi,S., Yang,E., Shin,W., Lee,S., Lee,S., Papadopoulos,Z.,
            Ahn,J.H., Koh,G.Y., Kipnis,J., Kang,H., Kim,H., Cho,W.K., Park,S.,
            Kim,S.G. and Kim,E.
  TITLE     Loss of Katnal2 leads to ependymal ciliary hyperfunction and
            autism-related phenotypes in mice
  JOURNAL   PLoS Biol 22 (5), e3002596 (2024)
   PUBMED   38718086
  REMARK    GeneRIF: Loss of Katnal2 leads to ependymal ciliary hyperfunction
            and autism-related phenotypes in mice.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3050)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   4  (bases 1 to 3050)
  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   5  (bases 1 to 3050)
  AUTHORS   Jung,H., Park,H., Choi,Y., Kang,H., Lee,E., Kweon,H., Roh,J.D.,
            Ellegood,J., Choi,W., Kang,J., Rhim,I., Choi,S.Y., Bae,M.,
            Kim,S.G., Lee,J., Chung,C., Yoo,T., Park,H., Kim,Y., Ha,S.,
            Um,S.M., Mo,S., Kwon,Y., Mah,W., Bae,Y.C., Kim,H., Lerch,J.P.,
            Paik,S.B. and Kim,E.
  TITLE     Sexually dimorphic behavior, neuronal activity, and gene expression
            in Chd8-mutant mice
  JOURNAL   Nat Neurosci 21 (9), 1218-1228 (2018)
   PUBMED   30104731
REFERENCE   6  (bases 1 to 3050)
  AUTHORS   Dunleavy,J.E.M., Okuda,H., O'Connor,A.E., Merriner,D.J.,
            O'Donnell,L., Jamsai,D., Bergmann,M. and O'Bryan,M.K.
  TITLE     Katanin-like 2 (KATNAL2) functions in multiple aspects of haploid
            male germ cell development in the mouse
  JOURNAL   PLoS Genet 13 (11), e1007078 (2017)
   PUBMED   29136647
  REMARK    GeneRIF: Authors present data suggesting that depending on context,
            KATNAL2 can partner with the regulatory protein KATNB1 or act
            autonomously. Data indicate KATNAL2 may regulate delta- and
            epsilon-tubulin rather than classical alpha-beta-tubulin
            microtubule polymers, suggesting the katanin family has a greater
            diversity of function than previously realised.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3050)
  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
  REMARK    GeneRIF: KATNAL2 isoforms interact with themselves, with each other
            and with Nubp1 and Nubp2.
REFERENCE   8  (bases 1 to 3050)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC132608.2.
            
            On Feb 14, 2019 this sequence version replaced XM_006526437.3.
            
            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 :: LN831862.1, SRR1660815.62589.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-124               AC132608.2         159905-160028       c
            125-195             AC132608.2         131916-131986       c
            196-362             AC132608.2         130192-130358       c
            363-405             AC132608.2         128733-128775       c
            406-526             AC132608.2         124715-124835       c
            527-625             AC132608.2         123678-123776       c
            626-724             AC132608.2         120516-120614       c
            725-802             AC132608.2         120239-120316       c
            803-901             AC132608.2         117454-117552       c
            902-965             AC132608.2         115468-115531       c
            966-1084            AC132608.2         115162-115280       c
            1085-1176           AC132608.2         110330-110421       c
            1177-1287           AC132608.2         107125-107235       c
            1288-1450           AC132608.2         92730-92892         c
            1451-1553           AC132608.2         91161-91263         c
            1554-3050           AC132608.2         88760-90256         c
FEATURES             Location/Qualifiers
     source          1..3050
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="18"
                     /map="18 52.02 cM"
     gene            1..3050
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /note="katanin p60 subunit A-like 2"
                     /db_xref="GeneID:71206"
                     /db_xref="MGI:MGI:1924234"
     exon            1..124
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             74..1693
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /EC_number="5.6.1.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     katanin p60 ATPase-containing subunit A-like 2; p60
                     katanin-like 2"
                     /codon_start=1
                     /product="katanin p60 ATPase-containing subunit A-like 2
                     isoform 1"
                     /protein_id="NP_001355584.1"
                     /db_xref="CCDS:CCDS89281.1"
                     /db_xref="GeneID:71206"
                     /db_xref="MGI:MGI:1924234"
                     /translation="MELSYQTLKLTHQAREAYEMRTEARRKNLLILILHYLTQEGYMD
                     AAKALEEETKLGLRRFEVCDNVDLETILMEYESYYFVKFQKYPKVVKKAPDPVENNLP
                     SRSGGKNKRLTNDSCQNLPKICHQKSRPKTSAVKTGDTKSVKEHLKQVKESVTDTQAE
                     STDFGLNISKIHKDQPEEKAQPRRGQIIDFRGLLSDAIKGATSEFALNTFECNPDPSE
                     RLLKPLSAFIGMNSEMRELAAVVSRDIYLHNPNIKWNDIIGLDAAKQLVKEAVVYPIR
                     YPQLFTGILSPWKGLLLYGPPGTGKTLLAKAVATECKTTFFNISASTIVSKWRGDSEK
                     LVRVLFELARYHAPSTIFLDELESVMSQRGMVPGGEHEGSLRMKTELLVQMDGLARSE
                     DLVFVLAASNLPWELDCAMLRRLEKRILVDLPSQEARQAMIYHWLPPVSKNHALELHT
                     QLEYSVLSQETEGYSGSDIKLVCREAAMRPVRKIFSVLENNQSESNNLPGIQLDTVTT
                     QDFLDVLAHTKPSAKNLTERYLAWQEKFESV"
     exon            125..195
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            196..362
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            363..405
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            406..526
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            527..625
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            626..724
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            725..802
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            803..901
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            902..965
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1084
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1176
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1287
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1450
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..1553
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1554..3050
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1912..1917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /note="hexamer: TATAAA"
     polyA_site      1931
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /note="major polyA site"
     regulatory      3028..3033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /note="hexamer: ATTAAA"
     polyA_site      3050
                     /gene="Katnal2"
                     /gene_synonym="3110023G01Rik; 4933439B08Rik"
                     /note="major polyA site"
ORIGIN      
        1 cgatttgcag caggcacagg tccgttggtg gcgtgctact cttctctctt cgtggtccct
       61 ggcccagtgt ctaatggagc tttcttacca gactctcaaa ctcactcacc aggcgcggga
      121 ggcgtacgag atgagaacag aagcacggcg aaaaaatctt ctcattctga ttttgcatta
      181 cttaacacaa gaaggctaca tggatgcagc taaggctttg gaggaggaga ccaaactggg
      241 attacggcgc tttgaagttt gtgacaacgt tgacctggaa actattttga tggaatatga
      301 gagctattat tttgtaaagt tccagaagta ccccaaagtg gttaagaagg ccccggaccc
      361 agtggaaaat aatttaccgt cacgaagtgg agggaagaac aaaaggctga cgaatgacag
      421 ttgtcaaaat ctccccaaga tatgtcacca gaagtcacga cctaaaactt cagcagtgaa
      481 gacaggggac accaaatctg tcaaggaaca ccttaaacag gtcaaggaga gtgtcactga
      541 cactcaagca gagagcactg acttcggcct gaacatatca aaaatccaca aagaccagcc
      601 agaggaaaag gcccaaccac gaagaggcca aatcattgac ttccgaggac tgctctcaga
      661 cgctatcaaa ggagccacaa gtgaatttgc attgaacacc tttgaatgta acccagaccc
      721 ttcagagcga ttgctgaaac ctctgagtgc atttattggc atgaacagtg agatgcgaga
      781 actggcagcg gtggtgagcc gggacattta tctccataat cccaacataa agtggaatga
      841 cattattgga ctggacgcag ccaagcagct agtcaaagaa gccgttgtgt acccaataag
      901 atacccgcag ctcttcacag gaattctttc cccgtggaaa ggactgctgc tttacggccc
      961 cccaggcaca gggaagactt tgctggccaa agcggtggcc accgaatgca aaaccacctt
     1021 ctttaacatt tctgcatcca ctattgtcag caaatggaga ggagattccg aaaaactggt
     1081 ccgggtgctg tttgaacttg cgcgatatca tgccccctcc acgatcttcc tggatgagct
     1141 ggagtcggtg atgagtcaga gaggcatggt tcctgggggg gaacatgaag ggagccttcg
     1201 gatgaagacg gagttactgg tgcagatgga tggcttagca cgctcggagg atctcgtgtt
     1261 tgtcttagca gcctcaaacc tgccatggga gctggactgt gccatgttgc ggcgcctgga
     1321 gaagaggatt ctggttgatc tccccagcca agaggccaga caagccatga tctaccactg
     1381 gctgccgcct gtgagcaaga accatgccct ggagctacac acacagctgg agtacagcgt
     1441 gctgagccag gaaacagagg gctactcagg ctccgacatt aagctggtct gcagggaggc
     1501 agccatgcgg cctgtgcgaa agatcttcag tgtgcttgaa aacaaccagt cagagagcaa
     1561 caatttacct gggatccagc tggacactgt gaccacacag gactttctgg atgttttggc
     1621 tcacaccaag ccttcagcaa agaatctgac cgagagatac ttggcctggc aagagaagtt
     1681 tgagtctgta taaagctgtg cccagcctga cctggccaga ggcagccgag agcctcccca
     1741 gcgtgactgg gatggaaggg aggaagttat ccttgagagc tggactcatt tggacaactg
     1801 tgttcctttg gaaacatgag ctctcgtgtc atggatgtca gcagagtgaa gatttcagca
     1861 gtgagtgtgt gctgttgggt caggcaatag aggttttttt cacaatttga ttataaaatt
     1921 ttgaagaagt ttcctgtgtt tctcctcatt tgtgaactga gatcttcatt ttgaagaaaa
     1981 atgttttctt agtctctatt cttaatttct ttcttgtaag acatcctcaa gtttgtcaga
     2041 taccatcagt atcctcccct cctccctccc ttccttcctt ccttccttcc ttccttcctt
     2101 ccttccttcc ttccttcctt ccttccttcc ttccttcctt ccttccttcc ttccttccct
     2161 ctttccctcc ctccctcccg aggccctgta gaccaggctg gccttgactt cagagatcca
     2221 cctgcctctg ctgggactaa gagtgctgcc ctaacccagc tggccgtatg cttttctaac
     2281 tggctgaatg ccccgtgtaa ctctctgttc tccccactgc ctgctccagg gaaagcagac
     2341 caccgtagaa ccataaccat ccctcctttc cgcccctctc accctagctg accaccacga
     2401 tcactgcctt gccctcacag gtactgtcct caaggcctta accgctgctt ccccagagaa
     2461 tttccagaag gaaaacctcc atccctcctg gctactcggg gttctggagt cccgctagtt
     2521 tgtcagctaa tttttcagcc acttgacttt cagccctgcc ttacatttcc ctctacacag
     2581 tcgctcaaag attccagttt tggagagtgt tctgaaggat agagtacgga tgtagtttgt
     2641 ttggtttttg cctttgatac ccagtttggt tatttagaaa cccactttga gtcttccagt
     2701 gttaacatcg tctcacccgc atcctcttac tttctgatct tgtgggctta tgacctctct
     2761 atttccttca ttttagtgga ggtttgagaa agagatcaac tcgtacacaa atttactgta
     2821 gactacctac agttacttgt tctttgtgtg agtgaatgtc acatgtgtac agatgccatg
     2881 gaggccagaa gactgtgtca gctcgtctgg atcacctgta gctggagtta caggcagttg
     2941 caagacgttg tgtactgaac tcatgtcctc taaaagaatg caaatgttct taaccaactg
     3001 aaccatctct cctgccctga tttactaatt aaatgtattc tttgacagtt
//
