LOCUS       NM_016532               2706 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K),
            transcript variant 1, mRNA.
ACCESSION   NM_016532
VERSION     NM_016532.4
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 2706)
  AUTHORS   Moes,B., Li,H., Molina-Ortiz,P., Radermecker,C., Rosu,A., Vande
            Catsyne,C.A., Sayyed,S.A., Fontela,J., Duque,M., Mostafa,A.,
            Azzi,A., Barata,J.T., Merino,R., Xu,C., Desmet,C.J. and
            Schurmans,S.
  TITLE     INPP5K controls the dynamic structure and signaling of wild-type
            and mutated, leukemia-associated IL-7 receptors
  JOURNAL   Blood 141 (14), 1708-1717 (2023)
   PUBMED   36599086
  REMARK    GeneRIF: INPP5K controls the dynamic structure and signaling of
            wild-type and mutated, leukemia-associated IL-7 receptors.
REFERENCE   2  (bases 1 to 2706)
  AUTHORS   Sun,J., Harion,R., Naito,T. and Saheki,Y.
  TITLE     INPP5K and Atlastin-1 maintain the nonuniform distribution of
            ER-plasma membrane contacts in neurons
  JOURNAL   Life Sci Alliance 4 (11), e202101092 (2021)
   PUBMED   34556534
  REMARK    GeneRIF: INPP5K and Atlastin-1 maintain the nonuniform distribution
            of ER-plasma membrane contacts in neurons.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2706)
  AUTHORS   Hathazi,D., Cox,D., D'Amico,A., Tasca,G., Charlton,R.,
            Carlier,R.Y., Baumann,J., Kollipara,L., Zahedi,R.P., Feldmann,I.,
            Deleuze,J.F., Torella,A., Cohn,R., Robinson,E., Ricci,F.,
            Jungbluth,H., Fattori,F., Boland,A., O'Connor,E., Horvath,R.,
            Barresi,R., Lochmuller,H., Urtizberea,A., Jacquemont,M.L.,
            Nelson,I., Swan,L., Bonne,G. and Roos,A.
  TITLE     INPP5K and SIL1 associated pathologies with overlapping clinical
            phenotypes converge through dysregulation of PHGDH
  JOURNAL   Brain 144 (8), 2427-2442 (2021)
   PUBMED   33792664
  REMARK    GeneRIF: INPP5K and SIL1 associated pathologies with overlapping
            clinical phenotypes converge through dysregulation of PHGDH.
            Erratum:[Brain. 2024 Aug 1;147(8):e62. doi: 10.1093/brain/awae239..
            PMID: 39023925]
REFERENCE   4  (bases 1 to 2706)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 2706)
  AUTHORS   Schurmans,S., Vande Catsyne,C.A., Desmet,C. and Moes,B.
  TITLE     The phosphoinositide 5-phosphatase INPP5K: From gene structure to
            in vivo functions
  JOURNAL   Adv Biol Regul 79, 100760 (2021)
   PUBMED   33060052
  REMARK    GeneRIF: The phosphoinositide 5-phosphatase INPP5K: From gene
            structure to in vivo functions.
            Review article
REFERENCE   6  (bases 1 to 2706)
  AUTHORS   Gurung,R., Tan,A., Ooms,L.M., McGrath,M.J., Huysmans,R.D.,
            Munday,A.D., Prescott,M., Whisstock,J.C. and Mitchell,C.A.
  TITLE     Identification of a novel domain in two mammalian
            inositol-polyphosphate 5-phosphatases that mediates membrane ruffle
            localization. The inositol 5-phosphatase skip localizes to the
            endoplasmic reticulum and translocates to membrane ruffles
            following epidermal growth factor stimulation
  JOURNAL   J Biol Chem 278 (13), 11376-11385 (2003)
   PUBMED   12536145
  REMARK    GeneRIF: identification of novel domain that mediates membrane
            ruffle localization
REFERENCE   7  (bases 1 to 2706)
  AUTHORS   Ijuin,T. and Takenawa,T.
  TITLE     SKIP negatively regulates insulin-induced GLUT4 translocation and
            membrane ruffle formation
  JOURNAL   Mol Cell Biol 23 (4), 1209-1220 (2003)
   PUBMED   12556481
REFERENCE   8  (bases 1 to 2706)
  AUTHORS   Ijuin,T., Mochizuki,Y., Fukami,K., Funaki,M., Asano,T. and
            Takenawa,T.
  TITLE     Identification and characterization of a novel inositol
            polyphosphate 5-phosphatase
  JOURNAL   J Biol Chem 275 (15), 10870-10875 (2000)
   PUBMED   10753883
REFERENCE   9  (bases 1 to 2706)
  AUTHORS   Drayer,A.L., Pesesse,X., De Smedt,F., Communi,D., Moreau,C. and
            Erneux,C.
  TITLE     The family of inositol and phosphatidylinositol polyphosphate
            5-phosphatases
  JOURNAL   Biochem Soc Trans 24 (4), 1001-1005 (1996)
   PUBMED   8968500
  REMARK    Review article
REFERENCE   10 (bases 1 to 2706)
  AUTHORS   Mitchell,C.A., Brown,S., Campbell,J.K., Munday,A.D. and Speed,C.J.
  TITLE     Regulation of second messengers by the inositol polyphosphate
            5-phosphatases
  JOURNAL   Biochem Soc Trans 24 (4), 994-1000 (1996)
   PUBMED   8968499
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC100748.2, BC004362.1,
            AB036829.1 and BM510617.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016532.3.
            
            Summary: This gene encodes a protein with 5-phosphatase activity
            toward polyphosphate inositol. The protein localizes to the cytosol
            in regions lacking actin stress fibers. It is thought that this
            protein may negatively regulate the actin cytoskeleton.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform of
            this protein.
            
            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 :: AB036829.1, SRR3476690.994275.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000421807.7/ ENSP00000413937.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-157               AC100748.2         53361-53517
            158-265             AC100748.2         55994-56101
            266-374             AC100748.2         56412-56520
            375-491             AC100748.2         60174-60290
            492-667             AC100748.2         60620-60795
            668-779             AC100748.2         61747-61858
            780-889             AC100748.2         62884-62993
            890-1076            AC100748.2         71851-72037
            1077-1214           AC100748.2         73170-73307
            1215-1298           AC100748.2         73571-73654
            1299-1403           AC100748.2         73809-73913
            1404-1644           AC100748.2         74094-74334
            1645-1675           BC004362.1         1720-1750
            1676-2289           AB036829.1         1737-2350
            2290-2290           BM510617.1         431-431             c
            2291-2706           AB036829.1         2352-2767
FEATURES             Location/Qualifiers
     source          1..2706
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..2706
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /note="inositol polyphosphate-5-phosphatase K"
                     /db_xref="GeneID:51763"
                     /db_xref="HGNC:HGNC:33882"
                     /db_xref="MIM:607875"
     exon            1..157
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..1460
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /EC_number="3.1.3.56"
                     /EC_number="3.1.3.36"
                     /EC_number="3.1.3.86"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phosphatidylinositol-4,5-bisphosphate 5-phosphatase;
                     phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase;
                     skeletal muscle and kidney-enriched inositol phosphatase"
                     /codon_start=1
                     /product="inositol polyphosphate 5-phosphatase K isoform
                     1"
                     /protein_id="NP_057616.2"
                     /db_xref="CCDS:CCDS11004.1"
                     /db_xref="GeneID:51763"
                     /db_xref="HGNC:HGNC:33882"
                     /db_xref="MIM:607875"
                     /translation="MSSRKLSGPKGRRLSIHVVTWNVASAAPPLDLSDLLQLNNRNLN
                     LDIYVIGLQELNSGIISLLSDAAFNDSWSSFLMDVLSPLSFIKVSHVRMQGILLLVFA
                     KYQHLPYIQILSTKSTPTGLFGYWGNKGGVNICLKLYGYYVSIINCHLPPHISNNYQR
                     LEHFDRILEMQNCEGRDIPNILDHDLIIWFGDMNFRIEDFGLHFVRESIKNRCYGGLW
                     EKDQLSIAKKHDPLLREFQEGRLLFPPTYKFDRNSNDYDTSEKKRKPAWTDRILWRLK
                     RQPCAGPDTPIPPASHFSLSLRGYSSHMTYGISDHKPVSGTFDLELKPLVSAPLIVLM
                     PEDLWTVENDMMVSYSSTSDFPSSPWDWIGLYKVGLRDVNDYVSYAWVGDSKVSCSDN
                     LNQVYIDISNIPTTEDEFLLCYYSNSLRSVVGISRPFQIPPGSLREDPLGEAQPQI"
     exon            158..265
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            266..374
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            375..491
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            492..667
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            668..779
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            780..889
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            890..1076
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1214
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1298
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1403
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..2706
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1655..1660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /note="hexamer: AATACA"
     polyA_site      1675
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /note="major polyA site"
     polyA_site      2706
                     /gene="INPP5K"
                     /gene_synonym="MDCCAID; PPS; SKIP"
                     /note="major polyA site"
ORIGIN      
        1 agtccgcgac agctaggcgc gtgagaccgg ccgcccgcag ggctgctctg gccgggaccc
       61 gctggccggg agacgcgaac ctgccggacc accgcgcggg gacgacggcg gccatgagct
      121 cgcggaagct gagcgggccg aaaggcagga ggctcagcat acacgtcgtg acttggaacg
      181 tggcttcggc agcgccccct ctagatctca gtgacctgct tcagctgaac aaccggaacc
      241 tcaatcttga catatatgtt attggtttgc aggaattgaa ctctgggatc ataagcctcc
      301 tttccgatgc tgcctttaat gactcgtgga gcagtttcct catggatgtg ctttcccctc
      361 tgagcttcat caaggtctcc catgtccgta tgcaggggat cctcttactg gtctttgcca
      421 agtatcagca tttgccctat atccagattc tgtctactaa atccaccccc actggcctgt
      481 ttgggtactg ggggaacaaa ggtggagtca acatctgcct gaagctttat ggctactatg
      541 tcagcatcat caactgccac ctgcctcccc acatttccaa caattaccag cggctggagc
      601 actttgaccg gatcctggag atgcagaatt gtgaggggcg agacatccca aacatcctgg
      661 accacgacct cattatctgg tttggagaca tgaactttcg gatcgaggac tttgggttgc
      721 actttgttcg ggaatccatt aaaaatcggt gctacggtgg cctgtgggag aaggaccagc
      781 tcagcattgc caagaaacat gacccgctgc tccgggagtt ccaggagggc cgcctactct
      841 tcccgcccac ctacaagttt gataggaact ccaacgacta tgacaccagt gagaaaaaac
      901 gcaagcctgc atggaccgat cgcatcctgt ggaggctgaa gcggcagccc tgtgctggcc
      961 ccgacactcc cataccgccg gcgtcacact tctccttgtc tctgaggggc tacagcagcc
     1021 acatgacgta cggcatcagc gaccacaagc ctgtctccgg cacgttcgac ttggagctga
     1081 agccattggt gtctgctccg ctgatcgtcc tgatgcccga ggacctgtgg accgtggaaa
     1141 atgacatgat ggtcagctac tcttcaacct cggacttccc cagcagcccg tgggactgga
     1201 ttggactgta caaggtgggg ctgcgggacg ttaatgacta cgtgtcctat gcctgggtcg
     1261 gggacagcaa ggtctcctgc agcgacaacc tgaaccaggt ttacatcgac atcagcaata
     1321 tccctaccac tgaagatgag tttctcctct gttactacag caacagtctg cgttctgtgg
     1381 tggggataag cagacccttc cagatcccgc ctggctcctt gagggaggac ccactgggtg
     1441 aagcacagcc acagatctga gccaggatgg gagtgaatcc caggcggagg ccagagctgg
     1501 cagccagctc tgcctttcca ctgccgggag tgctgggggc ccagcctggc cccctgaaga
     1561 gacagccaag tgtcgtccac atactcctcc cagagtgagc tctaaccagg ctcatttgct
     1621 ctctccacta ctcatctctg gaattagccg cttaaataca ggtttttgtt gctgagatgt
     1681 gagtgaaacc agctagtgtg tcaacagtga agacctgggg acagttctgc gtctcatttc
     1741 tggattccta ccccctcttc tagtcttgcc caagtagtcc tgccaggcac atgccccatt
     1801 tggcacaggc ctgcattctt gtcgtgccgt cctgggcctc aggctgtctg ggaggggaga
     1861 tgctcacatt tgtacaggct acatagactg gtgcaagcag tgctggattc caggagtctt
     1921 ggcatctcat agcttgtccc cgtgaggagt gagcagaggg tctgggattt ctgctttcag
     1981 caaaagcagt ctgactcagt gggcagaatg gaggggcccc tctagccagg ctcttacgcc
     2041 atggttatga gcaggttgat gagggtcctt cggccagcac aaccttcctc cctactcacg
     2101 gcatggagtc tgactgcatg gaagttccag atcctgacag agagaactgg gaaggatcca
     2161 ggttcgcttc cgttggtagc ttgagtccca tgcctccacc ctgccatctg aggaaggggt
     2221 gacaagtggt caaggagctg tggccacaga cttttccagg gtggtccttg gcaggtgagg
     2281 tgcgtctgtg ccacccttgt caggagccat tgacgacggg ccccccctgg accccccggg
     2341 acctcagagt gggggcaggc agaagggaga accagctcaa gacattttgg aggatctggc
     2401 cctggggttc ttcagagaac accctctagg ggctttgggg acatggcctg tccccacatc
     2461 cagcacttgc ctccgccatg gtcactcggc agcccttttc ccaggagaag acacctctgg
     2521 gagcctgctc agtgcttgtc ctgccatcct gtgtcctggg actgagggtt actccagttg
     2581 ctctgtgttg catactctcc cccgcaagcc tgtgtatgaa gaattgtccc ctggcttcca
     2641 gcaggccatg gctggctgtt ttgtgactgt tacattgtgc aggggtaatt attagcgtgg
     2701 ctttta
//
