LOCUS       NM_001127363            2843 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus inositol polyphosphate-5-phosphatase A (Inpp5a),
            transcript variant 1, mRNA.
ACCESSION   NM_001127363
VERSION     NM_001127363.1
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 2843)
  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 2843)
  AUTHORS   Gresakova,V., Novosadova,V., Prochazkova,M., Prochazka,J. and
            Sedlacek,R.
  TITLE     Dual role of Fam208a during zygotic cleavage and early embryonic
            development
  JOURNAL   Exp Cell Res 406 (2), 112723 (2021)
   PUBMED   34216590
REFERENCE   3  (bases 1 to 2843)
  AUTHORS   Fernandez,A., Drozd,M., Thummler,S., Bardoni,B., Askenazy,F. and
            Capovilla,M.
  TITLE     A novel microduplication in INPP5A segregates with schizophrenia
            spectrum disorder in the family of a patient with both childhood
            onset schizophrenia and autism spectrum disorder
  JOURNAL   Am J Med Genet A 185 (6), 1841-1847 (2021)
   PUBMED   33720513
  REMARK    GeneRIF: A novel microduplication in INPP5A segregates with
            schizophrenia spectrum disorder in the family of a patient with
            both childhood onset schizophrenia and autism spectrum disorder.
REFERENCE   4  (bases 1 to 2843)
  AUTHORS   Liu,Q., Huang,S., Yin,P., Yang,S., Zhang,J., Jing,L., Cheng,S.,
            Tang,B., Li,X.J., Pan,Y. and Li,S.
  TITLE     Cerebellum-enriched protein INPP5A contributes to selective
            neuropathology in mouse model of spinocerebellar ataxias type 17
  JOURNAL   Nat Commun 11 (1), 1101 (2020)
   PUBMED   32107387
  REMARK    GeneRIF: Using SCA17 knock-in mice that endogenously express mutant
            TATA box-binding protein (TBP), study found that Inpp5a, a protein
            that is highly abundant in the cerebellum and functions as a
            terminator of the inositol 1,4,5-trisphosphate (IP3) second
            messenger, is downregulated. This was caused by the abnormal
            binding of mutant TBP to the transcription factor SP1, leading to
            reduced Inpp5a transcription.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2843)
  AUTHORS   Hwang,S.H., Somatilaka,B.N., Badgandi,H., Palicharla,V.R.,
            Walker,R., Shelton,J.M., Qian,F. and Mukhopadhyay,S.
  TITLE     Tulp3 Regulates Renal Cystogenesis by Trafficking of Cystoproteins
            to Cilia
  JOURNAL   Curr Biol 29 (5), 790-802 (2019)
   PUBMED   30799239
REFERENCE   6  (bases 1 to 2843)
  AUTHORS   Yang,A.W., Sachs,A.J. and Nystuen,A.M.
  TITLE     Deletion of Inpp5a causes ataxia and cerebellar degeneration in
            mice
  JOURNAL   Neurogenetics 16 (4), 277-285 (2015)
   PUBMED   26051944
REFERENCE   7  (bases 1 to 2843)
  AUTHORS   Gold,D.A., Baek,S.H., Schork,N.J., Rose,D.W., Larsen,D.D.,
            Sachs,B.D., Rosenfeld,M.G. and Hamilton,B.A.
  TITLE     RORalpha coordinates reciprocal signaling in cerebellar development
            through sonic hedgehog and calcium-dependent pathways
  JOURNAL   Neuron 40 (6), 1119-1131 (2003)
   PUBMED   14687547
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC056341.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC056341.1, AK171360.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849380, SAMN00849381
                                           [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
            1-2843              BC056341.1         1-2843
FEATURES             Location/Qualifiers
     source          1..2843
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 84.57 cM"
     gene            1..2843
                     /gene="Inpp5a"
                     /note="inositol polyphosphate-5-phosphatase A"
                     /db_xref="GeneID:212111"
                     /db_xref="MGI:MGI:2686961"
     exon            1..356
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     CDS             282..1520
                     /gene="Inpp5a"
                     /EC_number="3.1.3.56"
                     /note="isoform a is encoded by transcript variant 1;
                     5PTase; type I inositol 1,4,5-trisphosphate 5-phosphatase"
                     /codon_start=1
                     /product="inositol polyphosphate-5-phosphatase A isoform
                     a"
                     /protein_id="NP_001120835.1"
                     /db_xref="CCDS:CCDS52428.1"
                     /db_xref="GeneID:212111"
                     /db_xref="MGI:MGI:2686961"
                     /translation="MAGKAAAPGTAVLLVTANVGSLFDDPENLQKNWLREFYQVLHTH
                     KPHFMALHCQEFGGKNYEASMSHVDKFVKELLSSDAMKEYNRARVYLDENYKSQEHFT
                     ALGSFYFLHESLKNIYQFDFKAKKYKKVTGKEIYSDTLESTPMLEKEKFPQDYFPECK
                     WSRKGFIRTRWCIADCAFDLVNIHLFHDASNLVAWETSPSVYSGVRHKALGYVLDRII
                     DQRFEKVSYFVFGDFNFRLDSKSVVETLCTKATMQTVRAADTNEVVKLIFRESDNDRK
                     VVLQLEKKLFDYFNQDVFRDNNGTALLEFDKELSVFKDRLYELDISFPPSYPYSEDSS
                     QGEQYMNTRCPAWCDRILMSLSAKELVLKSESEEKVATYDHIGPNVCMGDHKPVFLAF
                     RIAPGAGKPHAHVHKCCVVQ"
     exon            357..398
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            399..499
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            500..587
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            588..651
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            652..755
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            756..808
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            809..928
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1013
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1109
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1184
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1258
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            1259..1370
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1439
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1527
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..2826
                     /gene="Inpp5a"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2802..2807
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Inpp5a"
                     /note="hexamer: AATAAA"
     polyA_site      2826
                     /gene="Inpp5a"
                     /note="major polyA site"
ORIGIN      
        1 cggcggcggc tgcgggaact ttcccggcgg gtctaatggc tgcgcgcggg ccgctgtgag
       61 gcgcggcggc gagcgggcgc ggggccgcgg agcagcgaag agccgcgacc gcgaggctgg
      121 agccccggcc aggcccggtc cgacccgcca agcccgcgat gcgcccctgt gctgtccccc
      181 ggcgcagctg acgccccgcg gccccgcgag accccagccc taccggcccc gcaggaagcg
      241 gccgccgcca cccagtccag agcccgctcc gcccgggcac catggcgggg aaggcggccg
      301 cccccggcac cgcggtcctg ctggtcacgg ccaacgtggg ctcgctcttc gacgacccag
      361 aaaacctgca gaagaactgg cttcgggaat tttaccaggt cctgcacaca cacaagcctc
      421 acttcatggc cttgcactgc caagaatttg gagggaaaaa ctacgaggcc tccatgtccc
      481 atgtggacaa atttgtcaaa gaactactat ccagtgacgc aatgaaagaa tacaacaggg
      541 cgcgtgtcta cctggatgaa aactacaagt cacaggaaca cttcacggca ctaggaagct
      601 tttattttct tcacgaatcc ttaaaaaaca tctaccagtt tgactttaaa gctaagaagt
      661 ataaaaaagt cactggcaag gagatctatt cggacacttt ggagagcaca cccatgctgg
      721 agaaggagaa gttcccacag gactactttc ctgagtgcaa atggtcaaga aaaggcttca
      781 tcaggacgcg gtggtgcatt gctgactgtg ccttcgactt ggtgaacatt catctttttc
      841 atgatgcatc caacttagtg gcctgggaga caagcccctc agtgtactcc ggtgtcaggc
      901 acaaggctct gggctatgtg ctggacagaa tcatcgacca gcgatttgag aaagtttcct
      961 actttgtctt cggtgatttc aacttccgcc tggattccaa gtctgtcgta gagacactct
     1021 gcacaaaggc cacaatgcag acagtccgcg ctgctgatac caatgaagtt gtaaagttga
     1081 tatttcggga gtcagacaat gaccggaagg tcgtgctcca gttggaaaag aagctcttcg
     1141 actacttcaa ccaggatgtc ttccgggaca acaacggcac tgcgctcttg gaatttgaca
     1201 aggagttgtc tgtctttaag gacagactgt atgaactgga catctcattc ccccccagct
     1261 acccgtacag tgaggactcc agccagggag aacagtacat gaacacgaga tgccctgctt
     1321 ggtgtgatcg catcctcatg tccctgtctg ccaaggagct ggttcttaag tcagagagcg
     1381 aggagaaggt tgccacctac gaccacatcg ggcctaatgt ctgcatggga gaccacaagc
     1441 cggtgttcct ggccttccga atcgcacctg gggcaggtaa acctcacgcc catgtacaca
     1501 agtgttgtgt cgtgcagtga cgtggtggga agaggtgcca gcgccgcgag aggatcctcg
     1561 agaggcctcc ctgtagcagt gtatccaact catcctccta acagctgcat cggaaccgcc
     1621 caagcctcac ctgctagacg gccggcccca cacttcgctt cagcctccgg acctccggaa
     1681 agcctcacat acctcactgt cgtgtctgtc acgtgacatt gtagacatat tgggtgtaat
     1741 caagccacag tcctattgcc aaaactctaa cagacagcag agcgcctgta ttttagactt
     1801 cacagttttc catttttaac aattgtctgt ggaggaagct tctccattta gagccccagg
     1861 tgtccagcgt ccctctctgc caggaggagt gtgccgggca ctagcccagg cagccaggct
     1921 gccacgtgtg cccaagcccg aggcccgagg tctgactcta ctgccatgtt acgtggcgtg
     1981 agaatcacac tgcagctgct ttccattttt atatatataa atacatataa atatatactt
     2041 tttaaaaata atttataaat cttaccaaaa cttatgctga atatactttc cagtatgagt
     2101 gcacgagtgt cctgagcagg cagaaccgca gtctagatga atggcgactc catcagcagt
     2161 cggcacctgt tcctgagaca aggcctagcc agtgcccagg gcgaggggcc ctgtgatctg
     2221 cctgtactag cagtttgtca ctcttctgcc ttttctgtgt aatattaaga actgaatgtg
     2281 aagtttatag ctagcctggg tgtacctttt aagaattttg taaactgttt tgtctgtctt
     2341 ttgttaccgt tttatggtgc caagtagcct acattaaaac cataatcttg tgggagaatt
     2401 agaagtagcc tcgtccactt cccacagatt gcttctagca tgggctgtgt gtaaacctgg
     2461 cagaaaagcg acgggtgatg ctgggcacag cctgttgcct ggactagcac ccagcactga
     2521 gaaccacgga aggcgcctgc ggagcctgct gaggaaacac agcgtgcttt tattgattta
     2581 cttctgaaca ctacagttcc tggatggggc ggaggcgcga gttaatgtcg gtttccctag
     2641 aaatcactca aggccggcct gtgtccttga tgccagggtc gggtctgtga ctgccatggt
     2701 cgctgcttgc caatgtgcca tgtccgcagc ggttgtccgt gggttccagc tgtgggtcct
     2761 tcccgtgaag gcctctggaa gtgactgctc ggttcctaag caataaaatt gatcatggtg
     2821 aaaacaaaaa aaaaaaaaaa aaa
//
