LOCUS       NM_019892               3417 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens inositol polyphosphate-5-phosphatase E (INPP5E),
            transcript variant 1, mRNA.
ACCESSION   NM_019892
VERSION     NM_019892.6
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 3417)
  AUTHORS   Zhai,D., Li,L., Chen,C., Wang,X., Liu,R. and Shan,Y.
  TITLE     INPP5E Regulates the Distribution of Phospholipids on Cilia in RPE1
            Cells
  JOURNAL   J Clin Lab Anal 38 (7), e25031 (2024)
   PUBMED   38514901
  REMARK    GeneRIF: INPP5E Regulates the Distribution of Phospholipids on
            Cilia in RPE1 Cells.
REFERENCE   2  (bases 1 to 3417)
  AUTHORS   Segal,D., Maier,S., Mastromarco,G.J., Qian,W.W., Nabeel-Shah,S.,
            Lee,H., Moore,G., Lacoste,J., Larsen,B., Lin,Z.Y.,
            Selvabaskaran,A., Liu,K., Smibert,C., Zhang,Z., Greenblatt,J.,
            Peng,J., Lee,H.O., Gingras,A.C. and Taipale,M.
  TITLE     A central chaperone-like role for 14-3-3 proteins in human cells
  JOURNAL   Mol Cell 83 (6), 974-993 (2023)
   PUBMED   36931259
REFERENCE   3  (bases 1 to 3417)
  AUTHORS   Yinsheng,Z., Miyoshi,K., Qin,Y., Fujiwara,Y., Yoshimura,T. and
            Katayama,T.
  TITLE     TMEM67 is required for the gating function of the transition zone
            that controls entry of membrane-associated proteins ARL13B and
            INPP5E into primary cilia
  JOURNAL   Biochem Biophys Res Commun 636 (Pt 1), 162-169 (2022)
   PUBMED   36334440
  REMARK    GeneRIF: TMEM67 is required for the gating function of the
            transition zone that controls entry of membrane-associated proteins
            ARL13B and INPP5E into primary cilia.
REFERENCE   4  (bases 1 to 3417)
  AUTHORS   Schembs,L., Willems,A., Hasenpusch-Theil,K., Cooper,J.D.,
            Whiting,K., Burr,K., Bostrand,S.M.K., Selvaraj,B.T., Chandran,S.
            and Theil,T.
  TITLE     The ciliary gene INPP5E confers dorsal telencephalic identity to
            human cortical organoids by negatively regulating Sonic hedgehog
            signaling
  JOURNAL   Cell Rep 39 (7), 110811 (2022)
   PUBMED   35584663
  REMARK    GeneRIF: The ciliary gene INPP5E confers dorsal telencephalic
            identity to human cortical organoids by negatively regulating Sonic
            hedgehog signaling.
REFERENCE   5  (bases 1 to 3417)
  AUTHORS   Jin,J., Smith,F.D., Stark,C., Wells,C.D., Fawcett,J.P.,
            Kulkarni,S., Metalnikov,P., O'Donnell,P., Taylor,P., Taylor,L.,
            Zougman,A., Woodgett,J.R., Langeberg,L.K., Scott,J.D. and Pawson,T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   6  (bases 1 to 3417)
  AUTHORS   Kong,A.M., Speed,C.J., O'Malley,C.J., Layton,M.J., Meehan,T.,
            Loveland,K.L., Cheema,S., Ooms,L.M. and Mitchell,C.A.
  TITLE     Cloning and characterization of a 72-kDa inositol-polyphosphate
            5-phosphatase localized to the Golgi network
  JOURNAL   J Biol Chem 275 (31), 24052-24064 (2000)
   PUBMED   10806194
  REMARK    GeneRIF: Functional analysis of the mouse counterpart.
REFERENCE   7  (bases 1 to 3417)
  AUTHORS   Kisseleva,M.V., Wilson,M.P. and Majerus,P.W.
  TITLE     The isolation and characterization of a cDNA encoding
            phospholipid-specific inositol polyphosphate 5-phosphatase
  JOURNAL   J Biol Chem 275 (26), 20110-20116 (2000)
   PUBMED   10764818
REFERENCE   8  (bases 1 to 3417)
  AUTHORS   Saar,K., Al-Gazali,L., Sztriha,L., Rueschendorf,F., Nur-E-Kamal,M.,
            Reis,A. and Bayoumi,R.
  TITLE     Homozygosity mapping in families with Joubert syndrome identifies a
            locus on chromosome 9q34.3 and evidence for genetic heterogeneity
  JOURNAL   Am J Hum Genet 65 (6), 1666-1671 (1999)
   PUBMED   10577920
REFERENCE   9  (bases 1 to 3417)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (bases 1 to 3417)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL592301.14, AL832846.1 and
            BC028032.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_019892.5.
            
            Summary: The protein encoded by this gene is an inositol
            1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases
            hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and
            acts as a second messenger mediating cell responses to various
            stimulation. Studies of the mouse counterpart suggest that this
            protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and
            phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi
            membrane and thereby regulate Golgi-vesicular trafficking.
            Mutations in this gene cause Joubert syndrome; a clinically and
            genetically heterogenous group of disorders characterized by
            midbrain-hindbrain malformation and various associated ciliopathies
            that include retinal dystrophy, nephronophthisis, liver fibrosis
            and polydactyly. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: BC028032.1, SRR1660807.243607.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000371712.4/
                                                  ENSP00000360777.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                AL592301.14        83447-83469         c
            24-41               AL832846.1         1-18
            42-3417             BC028032.1         1-3376
FEATURES             Location/Qualifiers
     source          1..3417
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..3417
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /note="inositol polyphosphate-5-phosphatase E"
                     /db_xref="GeneID:56623"
                     /db_xref="HGNC:HGNC:21474"
                     /db_xref="MIM:613037"
     exon            1..1238
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /inference="alignment:Splign:2.1.0"
     CDS             427..2361
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /EC_number="3.1.3.36"
                     /EC_number="3.1.3.86"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phosphatidylinositol polyphosphate 5-phosphatase type IV;
                     72 kDa inositol polyphosphate 5-phosphatase;
                     phosphatidylinositol-4,5-bisphosphate 5-phosphatase;
                     phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase"
                     /codon_start=1
                     /product="phosphatidylinositol polyphosphate 5-phosphatase
                     type IV isoform 1"
                     /protein_id="NP_063945.2"
                     /db_xref="CCDS:CCDS7000.1"
                     /db_xref="GeneID:56623"
                     /db_xref="HGNC:HGNC:21474"
                     /db_xref="MIM:613037"
                     /translation="MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPG
                     SESPALACSTPATPSGEDPPARAAPIAPRPPARPRLERALSLDDKGWRRRRFRGSQED
                     LEARNGTSPSRGSVQSEGPGAPAHSCSPPCLSTSLQEIPKSRGVLSSERGSPSSGGNP
                     LSGVASSSPNLPHRDAAVAGSSPRLPSLLPPRPPPALSLDIASDSLRTANKVDSDLAD
                     YKLRAQPLLVRAHSSLGPGRPRSPLACDDCSLRSAKSSFSLLAPIRSKDVRSRSYLEG
                     SLLASGALLGADELARYFPDRNVALFVATWNMQGQKELPPSLDEFLLPAEADYAQDLY
                     VIGVQEGCSDRREWETRLQETLGPHYVLLSSAAHGVLYMSLFIRRDLIWFCSEVECST
                     VTTRIVSQIKTKGALGISFTFFGTSFLFITSHFTSGDGKVAERLLDYTRTVQALVLPR
                     NVPDTNPYRSSAADVTTRFDEVFWFGDFNFRLSGGRTVVDALLCQGLVVDVPALLQHD
                     QLIREMRKGSIFKGFQEPDIHFLPSYKFDIGKDTYDSTSKQRTPSYTDRVLYRSRHKG
                     DICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRDNIPLAAGKFDRELYLLGIKRRISK
                     EIQRQQALQSQNSSTICSVS"
     exon            1239..1362
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /inference="alignment:Splign:2.1.0"
     exon            1363..1460
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /inference="alignment:Splign:2.1.0"
     exon            1461..1585
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /inference="alignment:Splign:2.1.0"
     exon            1586..1705
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /inference="alignment:Splign:2.1.0"
     exon            1706..1813
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /inference="alignment:Splign:2.1.0"
     exon            1814..1975
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /inference="alignment:Splign:2.1.0"
     exon            1976..2091
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /inference="alignment:Splign:2.1.0"
     exon            2092..2228
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /inference="alignment:Splign:2.1.0"
     exon            2229..3417
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3391..3396
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /note="hexamer: AATAAA"
     polyA_site      3417
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /note="major polyA site"
ORIGIN      
        1 gcggcggcgg ttgctgggtc ccggccgggc tgactccgct tctgggcggc cgggcctccg
       61 cgagtaccgg gtcgacttcg gagtctgcga gcccagccag gggtgcccgc ttcccacccc
      121 tctccccgag cggcgtcccc gtcggggtcg aacctccccc gcgacaggcg cccagccgcc
      181 tgttccccca ggccttgcct gcggaccgcc ctgggaacgg cgtctgggag ccccgagggg
      241 ctggcgggac tcggggcccg ggccatgcgg cagccgcccc cgcccctccg cgaccatccc
      301 cggcccaagc gggagccgca gcggcgtttc tgctcctcgc tgcgccggcg accccggacc
      361 cggcacccgt gacccctcgc gctgcctgcg gcctcgcgcc gaggcctgcc ccgggagaga
      421 ccgtccatgc cgtccaaggc ggagaatctg cggccctccg agccggcccc gcagccgccg
      481 gaagggagga cgctccaagg acagcttccc ggcgctccgc cggcccagcg cgcggggtcc
      541 ccacccgatg ctccgggctc cgagagcccc gcgcttgcct gcagcactcc ggccacgccc
      601 agcggcgagg acccgccagc ccgagcagca cccatcgccc cgcggccccc cgccaggcct
      661 cgactggagc gagccctgtc cctggacgac aagggctgga ggaggaggcg ttttcgaggc
      721 agccaggagg acctggaagc ccggaatggg accagtccct ccaggggctc agtgcagagc
      781 gagggccccg gggcccccgc ccacagctgc tccccgccct gcctgagcac ctccttgcag
      841 gaaatcccca agtcccgcgg ggtcctgagc agtgagagag ggagcccgtc ctcggggggt
      901 aaccctctct ctggggtggc cagcagctcc ccgaacctcc cgcacagaga cgccgccgtg
      961 gcggggagct cgcccaggct gcccagcctg ctgcccccgc gcccaccgcc tgccctgagc
     1021 ctggacatcg cctccgactc cctgaggaca gcaaacaagg tcgactcgga tcttgcagac
     1081 tacaagctcc gcgcgcagcc gctcctggtg cgggcccaca gcagcctggg ccccggccgg
     1141 ccgcggagcc ccctggcctg cgacgactgt tcccttcgct cggccaaatc ctccttcagc
     1201 ctcctggcgc ccatccgcag caaggacgtc cgcagcagga gttacctgga gggcagcctc
     1261 ctggccagcg gggccctgtt gggggcggat gagctggccc gctacttccc agaccggaac
     1321 gtggcactct tcgtggccac ctggaacatg cagggccaga aggagctccc gcccagcctg
     1381 gacgagttcc tgctcccagc cgaggccgac tatgcccagg acctgtatgt catcggggtc
     1441 caggagggct gttctgacag gcgggagtgg gagactcgtc tgcaggagac gctgggcccg
     1501 cactatgtgc tgctgtcctc ggcggcccac ggcgtgctct acatgtcgct cttcatccgc
     1561 agggacctca tctggttctg ctcagaggtg gagtgctcca cggtgaccac acgcatcgtg
     1621 tctcagatca agaccaaggg ggccttgggc atcagcttca ccttttttgg cacttccttc
     1681 ctcttcatca cgtcccactt cacctcaggt gacgggaagg tggcggagcg gctgctggac
     1741 tacaccagga ctgtacaagc cctggtcctg cccagaaatg tgcccgacac caacccctat
     1801 cgctccagcg cagcggacgt caccacccgc ttcgatgagg tgttctggtt tggagacttc
     1861 aacttccgcc tgagtggcgg gcgcacagtc gtggacgccc tcctgtgcca gggcctggtg
     1921 gtggacgtgc cggcgctgct gcagcacgac cagctcatcc gggagatgcg gaaagggtcc
     1981 atcttcaagg gcttccagga gccggacatc cacttcctcc catcatacaa gtttgacatc
     2041 gggaaggaca cgtacgacag cacctccaag cagaggacgc cctcatacac ggaccgcgtc
     2101 ttgtacagaa gccgccacaa gggtgacatc tgtcctgtga gctactcttc ctgccccggg
     2161 atcaagacgt ccgaccaccg ccctgtgtat ggcctcttcc gggtgaaagt gaggccgggg
     2221 cgagacaaca ttccgttggc agctggcaaa tttgatagag aactgtactt actaggaatt
     2281 aaaagacgga tttcgaagga gattcagagg cagcaagcac tacagagtca gaactccagc
     2341 accatctgct ccgtttcttg aagtttgctg aacgaggact cacagctgca acgtggggtg
     2401 attgtattga tcaaaaccca ctgggaagga caaagagttt gccgcctttc ggggatccga
     2461 gggactgtgg cgaccgtgcc tctgtgccag cgtcccagga aggaagccaa ccctgagcga
     2521 gcctgtcctc tgtggcaggt ccacacggtg tgggtgggca gggcttggac ccccgtctcc
     2581 atggcaggtc catacagcat gggtggcagg gtttggaccc gcccagcagc accacggacc
     2641 ccagccactc tcgggggcag acgtcagaat ccgttcctga gcagctcctg tgccctgggg
     2701 gcagtcacag agccccccaa cacccccgtg ctctgcacca gcctctccct ccacacccga
     2761 agcaggcgtc catctgtgtc ctcctggcag cccctcaaac acacaccacc ccatgtcaca
     2821 cgggtatcca gagcaaggct ggatctgggc taggtgaccc ctggggcctc agacctctga
     2881 gtgggcccca gagcccagct gaggaagcca cacagcctcc aggacgtggc acggttcccc
     2941 tccacttggc tgcaagtcgc ctgccatggg gcgaggaggc ctgcacccca gtataagggc
     3001 ctccccagct gagtaagaag ctgcttcccc tcctctcata ggccaagcct attgtgtgaa
     3061 accatctcat ggtcttggtg acgtagacca tttttgaaac cgtctcatgg tcttggtgac
     3121 gtagaccgtt tgcttcttta actccagccg cggaatgaca ttagtggaac cgggctaggg
     3181 aactgctgga agttcaggat gccaccacct tgaacaccta ggccagggat ccccaccatg
     3241 tcccgggttt ctttcttcga gagtatagaa ccgttcattc ttgctttgtg tcccattcca
     3301 tctcttgaaa aaatgtagtc tttgaatgtg tgaaaatcta gggacattca atctagtctt
     3361 ttaaattatt tttccatatt tatattttta aataaatgca tatattgagt cttaaaa
//
