LOCUS       NM_133886               4384 bp    mRNA    linear   ROD 10-FEB-2025
DEFINITION  Mus musculus expressed sequence AU040320 (AU040320), transcript
            variant 3, mRNA.
ACCESSION   NM_133886
VERSION     NM_133886.2
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 4384)
  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   2  (bases 1 to 4384)
  AUTHORS   Zengel,J., Wang,Y.X., Seo,J.W., Ning,K., Hamilton,J.N., Wu,B.,
            Raie,M., Holbrook,C., Su,S., Clements,D.R., Pillay,S.,
            Puschnik,A.S., Winslow,M.M., Idoyaga,J., Nagamine,C.M., Sun,Y.,
            Mahajan,V.B., Ferrara,K.W., Blau,H.M. and Carette,J.E.
  TITLE     Hardwiring tissue-specific AAV transduction in mice through
            engineered receptor expression
  JOURNAL   Nat Methods 20 (7), 1070-1081 (2023)
   PUBMED   37291262
REFERENCE   3  (bases 1 to 4384)
  AUTHORS   Huang,Q., Chan,K.Y., Tobey,I.G., Chan,Y.A., Poterba,T.,
            Boutros,C.L., Balazs,A.B., Daneman,R., Bloom,J.M., Seed,C. and
            Deverman,B.E.
  TITLE     Delivering genes across the blood-brain barrier: LY6A, a novel
            cellular receptor for AAV-PHP.B capsids
  JOURNAL   PLoS One 14 (11), e0225206 (2019)
   PUBMED   31725765
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4384)
  AUTHORS   Guidi,L.G., Holloway,Z.G., Arnoult,C., Ray,P.F., Monaco,A.P.,
            Molnar,Z. and Velayos-Baeza,A.
  TITLE     AU040320 deficiency leads to disruption of acrosome biogenesis and
            infertility in homozygous mutant mice
  JOURNAL   Sci Rep 8 (1), 10379 (2018)
   PUBMED   29991750
  REMARK    GeneRIF: results suggest AU040320 may be necessary for the normal
            formation of proacrosomal vesicles or the recruitment of cargo
            proteins required for downstream events leading to acrosomal
            fusion.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4384)
  AUTHORS   Guidi,L.G., Mattley,J., Martinez-Garay,I., Monaco,A.P.,
            Linden,J.F., Velayos-Baeza,A. and Molnar,Z.
  TITLE     Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319
            and KIAA0319L have Unaffected Neuronal Migration but Display
            Abnormal Auditory Processing
  JOURNAL   Cereb Cortex 27 (12), 5831-5845 (2017)
   PUBMED   29045729
  REMARK    GeneRIF: Analyses of Kiaa0319L (AU040320) and double
            Kiaa0319;AU040320 knockouts (dKO) revealed no evidence for impaired
            cortical lamination, neuronal migration, neurogenesis or other
            anatomical abnormalities. However, dKO mice displayed an auditory
            deficit in a behavioral gap-in-noise detection task. Recordings of
            click-evoked auditory brainstem responses revealed suprathreshold
            deficits in wave III amplitude in AU040320-KO mice.
REFERENCE   6  (bases 1 to 4384)
  AUTHORS   Pillay,S., Meyer,N.L., Puschnik,A.S., Davulcu,O., Diep,J.,
            Ishikawa,Y., Jae,L.T., Wosen,J.E., Nagamine,C.M., Chapman,M.S. and
            Carette,J.E.
  TITLE     An essential receptor for adeno-associated virus infection
  JOURNAL   Nature 530 (7588), 108-112 (2016)
   PUBMED   26814968
  REMARK    GeneRIF: genetic ablation of AAVR renders a wide range of mammalian
            cell types highly resistant to AAV2 infection
            Erratum:[Nature. 2016 Nov 17;539(7629):456. doi:
            10.1038/nature19835.. PMID: 27680708]
REFERENCE   7  (bases 1 to 4384)
  AUTHORS   Evsikov,A.V., Graber,J.H., Brockman,J.M., Hampl,A., Holbrook,A.E.,
            Singh,P., Eppig,J.J., Solter,D. and Knowles,B.B.
  TITLE     Cracking the egg: molecular dynamics and evolutionary aspects of
            the transition from the fully grown oocyte to embryo
  JOURNAL   Genes Dev 20 (19), 2713-2727 (2006)
   PUBMED   17015433
REFERENCE   8  (bases 1 to 4384)
  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
            BY289654.1, BY308757.1, BM942797.1, CB249000.1, CB527694.1,
            CA540237.1, AK161493.1 and AL606908.10.
            
            On Oct 31, 2005 this sequence version replaced NM_133886.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR and has
            multiple coding region differences (compared to variant 2), one of
            which results in a frameshift. This results in a shorter isoform
            (2) with a distinct C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC028869.1, SRR1660817.305692.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-89                BY289654.1         1-89
            90-427              BY308757.1         66-403
            428-926             BM942797.1         83-581
            927-1336            CB249000.1         285-694
            1337-1883           CB527694.1         139-685
            1884-2031           CA540237.1         190-337
            2032-3213           AK161493.1         95-1276
            3214-4384           AL606908.10        116763-117933
FEATURES             Location/Qualifiers
     source          1..4384
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 60.94 cM"
     gene            1..4384
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /note="expressed sequence AU040320"
                     /db_xref="GeneID:100317"
                     /db_xref="MGI:MGI:2140475"
     exon            1..226
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            227..396
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     CDS             255..3401
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /note="isoform 2 is encoded by transcript variant 3;
                     dyslexia-associated protein KIAA0319-like protein; likely
                     ortholog of H. sapiens polycystic kidney disease 1-like
                     (PKD1-like); adeno-associated virus receptor"
                     /codon_start=1
                     /product="dyslexia-associated protein KIAA0319-like
                     protein isoform 2"
                     /protein_id="NP_598647.1"
                     /db_xref="CCDS:CCDS18661.1"
                     /db_xref="GeneID:100317"
                     /db_xref="MGI:MGI:2140475"
                     /translation="MEKRLGVKPSPASWVLPGYCWQTSVKLPRSLYLLYSFFCFSVLW
                     LSTDADESRCQQGKTLYGAGLRTEGENHLRLLAGSLPFHACRAACCRDSACHALWWLE
                     GMCFQADCSKPQSCQPFRTDSSNSMLIIFQKSQTTDDLGLLPEDDEPHLLRLGWGRTS
                     WRRQSLLGAPLTLSVPSSHHQSLLRDRQKRDLSVVPTHGAMQHSKVNHSEEAGALSPT
                     SAEVRKTITVAGSFTSNHTTQTPEWPKNVSIHPEPSEHSSPVSGTPQVKSTEHSPTDA
                     PLPVAPSYSYATPTPQASSQSTSAPHPVVKELVVSAGKSVQITLPKNEVQLNAFVLPE
                     AEPGETYTYDWQLITHPTDYSGEVERKHSQSLQLSKLTPGLYEFKVTVDGQNAHGEGY
                     VNVTVKPEPRKNRPPVAVVSPQFQEISLPTTSTIIDGSQSTDDDKIVQYHWEELKGPL
                     REEKISEDTAILKLSKLVPGNYTFSLTVVDSDGATNSTTASLTVNKAVDYPPVANAGP
                     NQVITLPQNSITLFGNQSTDDHGITSYEWSLSPSSKGKVVEMQGVRTPALQLSAMQEG
                     DYTYQLTVTDTAGQQATAQVTVIVQPENNKPPQADAGPDKELTLPVDSTTLDGSKSTD
                     DQRVVSYLWEQSRGPDGVQLENANSSVATVTGLQVGTYVFTLTVKDERNLQSQSSVNV
                     IVKEEINKPPVAKIAGNVVVTLPTSTAELDGSRSSDDKGIVSYLWTRDETSPAAGEVL
                     NHSDHHPVLFLSNLVEGTYTFHLKVTDAKGESDTDRTTVEVKPDPRKSNLVEIILDVN
                     VSQLTERLKGMLIRQIGVLLGVLDSDIIVQKIQPYTEQSTKMLFFVQNDPPHQLFKGH
                     EVAAMLKSELQKQKADFLIFRALEISTVTCQLNCSDHGHCDSFTKRCVCDPFWMENFI
                     KVQLRDGDSNCEWSVLYVIIASFVIVVALGILSWTTICCCKRQKGKPKRKSRYKILDA
                     TDQESLELKPTSRAGSKQKGPTLSSSLMHSESELDSDDAIFTWPDREKGKLLYGQNGS
                     VPNGQTPLKSRSAREEIL"
     exon            397..917
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1164
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            1165..1266
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            1267..1364
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            1365..1452
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            1453..1545
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            1546..1678
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            1679..1907
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            1908..2031
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            2032..2164
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            2165..2313
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            2314..2465
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            2466..2604
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            2605..2764
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            2765..2907
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            2908..3030
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            3031..3121
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            3122..3213
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     exon            3214..4384
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4362..4367
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /note="hexamer: ATTAAA"
     polyA_site      4384
                     /gene="AU040320"
                     /gene_synonym="A730047D20Rik; AAVR; Kiaa0319l"
                     /note="major polyA site"
ORIGIN      
        1 atgtttccgg gttgagcccc gggaggtggg aaggaggcgg cgtttccggc cgcggtcgct
       61 gtccagggag gctgaggcaa gagggagctg tccgggtggg gagccagcac ttccttcttc
      121 ctcctctgcg tgaggggaga gaaggttggg ggtccccgag cccatggatc gggaggaggc
      181 ggaggccgcc gagagccggc acccctctat gtggccctga gccccgtgta ctggttccgc
      241 ctctctggaa ggccatggag aagagactgg gagtcaagcc aagtcccgct tcctgggttt
      301 tgccaggata ttgttggcag acatcagtga agctgccgag aagcctgtac ctgctttaca
      361 gtttcttctg cttcagcgtt ctgtggttgt caacagatgc tgatgagagc agatgccaac
      421 aggggaagac actttatgga gctggcttga gaactgaggg agaaaatcac ctccggcttc
      481 ttgcaggaag cctgcctttc cacgcctgtc gggctgcctg ctgccgggac tctgcctgcc
      541 acgctctatg gtggctggaa gggatgtgct ttcaggctga ctgcagtaag ccccagagct
      601 gccagccttt taggacagac tcttccaatt ccatgctgat catttttcaa aaatcccaaa
      661 ctacagatga tttgggcctt ctgcctgaag atgatgaacc acatcttctg aggctaggct
      721 ggggcaggac atcgtggagg aggcagagcc ttcttggggc tcccctcacc ctttctgtac
      781 cctctagtca ccaccagagc ttactcaggg atcggcagaa gagagatctc agtgtggtac
      841 ctacacatgg agcgatgcag cattctaaag tgaatcactc ggaggaagca ggtgctctga
      901 gtcccacctc tgcagaggtc cgcaaaacca ttacagttgc cggttccttc accagtaacc
      961 acactacaca gactcctgag tggcccaaga atgtgtccat ccatcctgaa ccatccgagc
     1021 actccagtcc tgtatctggt actccgcaag taaaaagcac tgagcacagt ccaactgatg
     1081 cccctctgcc agtggccccc tcctacagct atgccacccc cacgccccag gcctcttctc
     1141 agagcacctc agcaccacac ccagttgtaa aggagctggt ggtgtctgct gggaagagcg
     1201 tccagatcac cctgcctaag aatgaagttc agttaaatgc cttcgtcctt ccagaagcag
     1261 agccaggaga aacctacacc tacgactggc agctgatcac tcatcctaca gactacagtg
     1321 gagaggtgga gaggaaacat tcccagagcc tccaactgtc caagctgact ccaggcctgt
     1381 acgaattcaa ggtgactgtg gatggccaga atgcccatgg ggaaggctac gtgaatgtga
     1441 cagtgaaacc agagccccgt aagaaccggc ctcccgttgc tgtggtgtca cctcagttcc
     1501 aggagatctc gctgccaacc acttctacca tcattgatgg cagccagagc acggatgacg
     1561 ataaaattgt ccagtaccac tgggaagagc ttaaggggcc cctgagagaa gagaagatct
     1621 ctgaagacac agccatacta aaacttagta agctcgtccc ggggaactac accttcagct
     1681 taactgttgt cgactctgac ggggctacca actccaccac tgcaagcctg actgtgaaca
     1741 aagctgtgga ctaccctccc gtggccaatg caggccccaa ccaagtgatc accctgcctc
     1801 agaactccat caccctcttt ggaaaccaga gcacggatga ccacggcatc accagctatg
     1861 agtggtcgct cagcccgagc agcaaaggga aggtggtgga gatgcaggga gttagaacgc
     1921 cagccctgca gctgtccgca atgcaagaag gagactatac ctaccagctc acagtgactg
     1981 acaccgcagg acaacaggcc accgcccaag tgactgtgat tgtgcagcct gagaacaaca
     2041 agcctcctca ggcagatgca ggcccagaca aagagctgac cctgcccgtg gacagcacaa
     2101 ccctggacgg cagcaagagc acagatgacc agagagtcgt ctcttacctt tgggagcaga
     2161 gtcggggacc tgacggggtg cagctggaga atgccaacag cagtgtcgcc actgtgactg
     2221 ggctgcaagt cgggacttat gtattcacct tgactgtcaa agatgagagg aacctacaga
     2281 gccagagctc cgttaatgtc attgtcaaag aagaaataaa caaaccgcca gtagccaaga
     2341 tcgctgggaa cgtggtggtg accttgccca cgagcacagc tgagctggat ggctcgaggt
     2401 cctcagatga caaggggata gtcagctacc tgtggactcg agatgagacg agcccagccg
     2461 caggggaggt gctgaatcac tctgaccacc accctgtcct cttcctctcc aacctggtgg
     2521 aggggaccta cacgtttcac ctgaaagtga cagatgcaaa gggcgagagc gacacagacc
     2581 ggacgacagt ggaagtgaag cctgacccca ggaaaagcaa cctagtggag atcatcttgg
     2641 atgtgaacgt cagtcagctg actgagaggc tgaaggggat gctcatccgc cagattgggg
     2701 tcctcctggg ggtgctggat tccgacatca ttgtgcaaaa gattcagccg tacacggagc
     2761 agagcaccaa gatgttgttt tttgttcaga acgaccctcc ccaccagctc ttcaaaggcc
     2821 atgaggtggc agccatgctc aagagcgagc tgcagaagca gaaggctgac ttcctcatct
     2881 tcagagccct ggaaatcagc acagtcacat gtcagctgaa ctgttctgac catggccact
     2941 gtgactcatt caccaagcgc tgtgtctgtg acccgttttg gatggagaat ttcatcaagg
     3001 tgcagctgag ggatggagac agcaactgtg aatggagcgt gctctacgtc atcattgcct
     3061 cctttgtcat tgttgttgcc ttggggatcc tgtcatggac tacaatctgc tgctgcaaga
     3121 ggcaaaaagg aaaacccaag aggaaaagca gatacaagat cctggatgcc acagatcagg
     3181 agagcctgga gctgaaacca acctcccgag caggcagcaa acagaaaggc cccacgctga
     3241 gcagcagcct gatgcattct gaatcggagc tggacagcga cgatgccatc ttcacatggc
     3301 cagaccggga gaagggcaaa ctactgtatg gtcagaatgg ctctgtgcca aacgggcaaa
     3361 cacctttgaa gtccaggagc gcacgggagg agatcttgta gccccctgat ctgtctcaac
     3421 agtctgggcc tcagtgctag gggccagagc acctctaggc tgattcctca ccttttgggt
     3481 ctgagggcag ctgctctccc agcatgtgct ggccactcca tcccaaaagc ccccatcaga
     3541 actgctggta cttgaatcct cagatacttt ataggagccc ttgaatgaag ctgtgaatgg
     3601 agaggttttc tctataaacc tatgtggtag cccccccccc ggccccccaa atgtcctcat
     3661 ctcagggcct cactttctgc acacacctcc ctgcctgaga gcagacacaa acaggcccat
     3721 agcctctcct ctgctgttag agcaatgcag ctgggcccag aacacccatg atgaggttca
     3781 ctgcgtctac cctgcacctc gcacagaacc aagagccacc agcctcctga tggcaggggc
     3841 ctagccctgg gcatattcat ttgtttgctt ctctgggaca gtatgccctg ccttccctgg
     3901 gccaaaagaa atccgtgctg tcactgatgc tggcgatgat gcagagctgt cgctgccctc
     3961 agctcctgct ggcttgttta tcagggatat gggagctgcg ggcatgacag ccacattctc
     4021 ccagaagaga cagccacaga tagactggaa ctctctggca tgtgagtgca tatgtgtgac
     4081 tgccccactg tgggacctgc cacatccctc catccatgtc ttttctgtgt cctttgcacg
     4141 tgtgagtgct cgagtgtatg tgcccattcc tcataggtct cttggctgct ctcaaggtta
     4201 attttaactt ggagactttc agctccttga aagactatta atccctccag cctgatgacc
     4261 agttctcagc tgtggtgtgg cagctgagga attgggtttc ggggagagtg actttttaaa
     4321 aaggacttaa tttctactac tgcactatct gttgtgagat aattaaacat gctatttaat
     4381 tgtg
//
