LOCUS       NP_063945                644 aa            linear   PRI 27-APR-2025
DEFINITION  phosphatidylinositol polyphosphate 5-phosphatase type IV isoform 1
            [Homo sapiens].
ACCESSION   NP_063945
VERSION     NP_063945.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 644)
  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  (residues 1 to 644)
  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  (residues 1 to 644)
  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  (residues 1 to 644)
  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  (residues 1 to 644)
  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  (residues 1 to 644)
  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  (residues 1 to 644)
  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  (residues 1 to 644)
  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  (residues 1 to 644)
  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 (residues 1 to 644)
  AUTHORS   Glass,I.A., Dempsey,J.C., Parisi,M. and Doherty,D.
  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 14, 2003 this sequence version replaced NP_063945.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..644
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     Protein         1..644
                     /product="phosphatidylinositol polyphosphate 5-phosphatase
                     type IV isoform 1"
                     /EC_number="3.1.3.36"
                     /EC_number="3.1.3.86"
                     /note="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"
                     /calculated_mol_wt=70074
     mat_peptide     1..641
                     /product="Phosphatidylinositol polyphosphate 5-phosphatase
                     type IV. /evidence=ECO:0000305|PubMed:24166846.
                     /id=PRO_0000209747"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRR6.2)"
                     /calculated_mol_wt=69932
     Region          1..193
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRR6.2)"
     Region          <2..179
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          10..242
                     /region_name="13 X 4 AA repeats of P-X-X-P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRR6.2)"
     Site            99
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NRR6.2)"
     Site            241
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WVR1; propagated from
                     UniProtKB/Swiss-Prot (Q9NRR6.2)"
     Site            256
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JII1; propagated from
                     UniProtKB/Swiss-Prot (Q9NRR6.2)"
     Region          295..593
                     /region_name="INPP5c_INPP5E-like"
                     /note="Catalytic inositol polyphosphate 5-phosphatase
                     (INPP5c) domain of Inositol polyphosphate-5-phosphatase E
                     and related proteins; cd09095"
                     /db_xref="CDD:197329"
     Site            order(307,309,340,403..404,424,427..428,477,479,481,
                     534..535,550,556,583..584)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:197329"
     Site            order(307,340,424,477,479,556,583..584)
                     /site_type="active"
                     /note="putative catalytic site [active]"
                     /db_xref="CDD:197329"
     Site            order(340,403..404,424,427..428,481,534..535,550,583)
                     /site_type="other"
                     /note="putative PI/IP binding site [chemical binding]"
                     /db_xref="CDD:197329"
     Site            order(340,583)
                     /site_type="other"
                     /note="putative Mg binding site [ion binding]"
                     /db_xref="CDD:197329"
     Site            order(424,479,584)
                     /site_type="other"
                     /note="putative phosphate binding site [ion binding]"
                     /db_xref="CDD:197329"
     Site            641
                     /site_type="methylation"
                     /note="Cysteine methyl ester.
                     /evidence=ECO:0000305|PubMed:24166846; propagated from
                     UniProtKB/Swiss-Prot (Q9NRR6.2)"
     CDS             1..644
                     /gene="INPP5E"
                     /gene_synonym="CORS1; CPD4; JBTS1; MORMS; pharbin;
                     PPI5PIV"
                     /coded_by="NM_019892.6:427..2361"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7000.1"
                     /db_xref="GeneID:56623"
                     /db_xref="HGNC:HGNC:21474"
                     /db_xref="MIM:613037"
ORIGIN      
        1 mpskaenlrp sepapqppeg rtlqgqlpga ppaqragspp dapgsespal acstpatpsg
       61 edpparaapi aprpparprl eralslddkg wrrrrfrgsq edlearngts psrgsvqseg
      121 pgapahscsp pclstslqei pksrgvlsse rgspssggnp lsgvassspn lphrdaavag
      181 ssprlpsllp prpppalsld iasdslrtan kvdsdladyk lraqpllvra hsslgpgrpr
      241 splacddcsl rsakssfsll apirskdvrs rsylegslla sgallgadel aryfpdrnva
      301 lfvatwnmqg qkelppslde fllpaeadya qdlyvigvqe gcsdrrewet rlqetlgphy
      361 vllssaahgv lymslfirrd liwfcsevec stvttrivsq iktkgalgis ftffgtsflf
      421 itshftsgdg kvaerlldyt rtvqalvlpr nvpdtnpyrs saadvttrfd evfwfgdfnf
      481 rlsggrtvvd allcqglvvd vpallqhdql iremrkgsif kgfqepdihf lpsykfdigk
      541 dtydstskqr tpsytdrvly rsrhkgdicp vsysscpgik tsdhrpvygl frvkvrpgrd
      601 niplaagkfd relyllgikr riskeiqrqq alqsqnssti csvs
//
