LOCUS       NM_001350227            3891 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens inositol polyphosphate-5-phosphatase B (INPP5B),
            transcript variant 3, mRNA.
ACCESSION   NM_001350227 XM_017001209
VERSION     NM_001350227.2
KEYWORDS    RefSeq.
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 3891)
  AUTHORS   Droubi,A., Wallis,C., Anderson,K.E., Rahman,S., de Sa,A.,
            Rahman,T., Stephens,L.R., Hawkins,P.T. and Lowe,M.
  TITLE     The inositol 5-phosphatase INPP5B regulates B cell receptor
            clustering and signaling
  JOURNAL   J Cell Biol 221 (9) (2022)
   PUBMED   35878408
  REMARK    GeneRIF: The inositol 5-phosphatase INPP5B regulates B cell
            receptor clustering and signaling.
REFERENCE   2  (bases 1 to 3891)
  AUTHORS   Nakatsu,F., Messa,M., Nandez,R., Czapla,H., Zou,Y.,
            Strittmatter,S.M. and De Camilli,P.
  TITLE     Sac2/INPP5F is an inositol 4-phosphatase that functions in the
            endocytic pathway
  JOURNAL   J Cell Biol 209 (1), 85-95 (2015)
   PUBMED   25869668
REFERENCE   3  (bases 1 to 3891)
  AUTHORS   Montjean,R., Aoidi,R., Desbois,P., Rucci,J., Trichet,M.,
            Salomon,R., Rendu,J., Faure,J., Lunardi,J., Gacon,G., Billuart,P.
            and Dorseuil,O.
  TITLE     OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit
            INPP5B-independent phenotypic variability relatively to Lowe
            syndrome cells
  JOURNAL   Hum Mol Genet 24 (4), 994-1006 (2015)
   PUBMED   25305077
  REMARK    GeneRIF: OCRL-mutated fibroblasts from patients with Dent-2 disease
            exhibit INPP5B-independent phenotypic variability relatively to
            Lowe syndrome cells
REFERENCE   4  (bases 1 to 3891)
  AUTHORS   Pirruccello,M., Nandez,R., Idevall-Hagren,O., Alcazar-Roman,A.,
            Abriola,L., Berwick,S.A., Lucast,L., Morel,D. and De Camilli,P.
  TITLE     Identification of inhibitors of inositol 5-phosphatases through
            multiple screening strategies
  JOURNAL   ACS Chem Biol 9 (6), 1359-1368 (2014)
   PUBMED   24742366
REFERENCE   5  (bases 1 to 3891)
  AUTHORS   Tresaugues,L., Silvander,C., Flodin,S., Welin,M., Nyman,T.,
            Graslund,S., Hammarstrom,M., Berglund,H. and Nordlund,P.
  TITLE     Structural basis for phosphoinositide substrate recognition,
            catalysis, and membrane interactions in human inositol
            polyphosphate 5-phosphatases
  JOURNAL   Structure 22 (5), 744-755 (2014)
   PUBMED   24704254
  REMARK    GeneRIF: The crystal structures of human INPP5B in complex with
            phosphoinositide substrate analogs revealed a membrane interaction
            patch likely to assist in sequestering substrates from the lipid
            bilayer.
REFERENCE   6  (bases 1 to 3891)
  AUTHORS   Speed,C.J., Matzaris,M., Bird,P.I. and Mitchell,C.A.
  TITLE     Tissue distribution and intracellular localisation of the 75-kDa
            inositol polyphosphate 5-phosphatase
  JOURNAL   Eur J Biochem 234 (1), 216-224 (1995)
   PUBMED   8529643
REFERENCE   7  (bases 1 to 3891)
  AUTHORS   Jefferson,A.B. and Majerus,P.W.
  TITLE     Properties of type II inositol polyphosphate 5-phosphatase
  JOURNAL   J Biol Chem 270 (16), 9370-9377 (1995)
   PUBMED   7721860
REFERENCE   8  (bases 1 to 3891)
  AUTHORS   Janne,P.A., Dutra,A.S., Dracopoli,N.C., Charnas,L.R., Puck,J.M. and
            Nussbaum,R.L.
  TITLE     Localization of the 75-kDa inositol polyphosphate-5-phosphatase
            (INPP5B) to human chromosome band 1p34
  JOURNAL   Cytogenet Cell Genet 66 (3), 164-166 (1994)
   PUBMED   8125013
REFERENCE   9  (bases 1 to 3891)
  AUTHORS   Ross,T.S., Jefferson,A.B., Mitchell,C.A. and Majerus,P.W.
  TITLE     Cloning and expression of human 75-kDa inositol
            polyphosphate-5-phosphatase
  JOURNAL   J Biol Chem 266 (30), 20283-20289 (1991)
   PUBMED   1718960
REFERENCE   10 (bases 1 to 3891)
  AUTHORS   Mitchell,C.A., Connolly,T.M. and Majerus,P.W.
  TITLE     Identification and isolation of a 75-kDa inositol
            polyphosphate-5-phosphatase from human platelets
  JOURNAL   J Biol Chem 264 (15), 8873-8877 (1989)
   PUBMED   2542294
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC398675.1, AK022846.1,
            BC062317.1, AL929472.21 and BC042529.2.
            
            On May 31, 2019 this sequence version replaced NM_001350227.1.
            
            Summary: This gene encodes a member of a family of inositol
            polyphosphate-5-phosphatases. These enzymes function in the
            regulation of calcium signaling by inactivating inositol
            phosphates. The encoded protein is localized to the cytosol and
            mitochondria, and associates with membranes through an isoprenyl
            modification near the C-terminus. Alternatively spliced transcript
            variants of this gene have been described. [provided by RefSeq, Jul
            2014].
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream in-frame start codon, compared to variant 1. The encoded
            isoform (3) has a shorter N-terminus than isoform 1. Variants 3 and
            4 encode the same protein (isoform 3).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                DC398675.1         53-95
            44-164              AK022846.1         54-174
            165-934             AK022846.1         179-948
            935-1524            BC062317.1         1483-2072
            1525-1525           AL929472.21        101849-101849       c
            1526-2141           AK022846.1         1540-2155
            2142-2142           AL929472.21        93053-93053         c
            2143-2277           AK022846.1         2157-2291
            2278-3617           AL929472.21        89697-91036         c
            3618-3891           BC042529.2         3556-3829
FEATURES             Location/Qualifiers
     source          1..3891
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..3891
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /note="inositol polyphosphate-5-phosphatase B"
                     /db_xref="GeneID:3633"
                     /db_xref="HGNC:HGNC:6077"
                     /db_xref="MIM:147264"
     exon            1..67
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            68..164
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            165..328
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     CDS             192..2273
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /EC_number="3.1.3.36"
                     /note="isoform 3 is encoded by transcript variant 3;
                     phosphoinositide 5-phosphatase; type II inositol
                     1,4,5-trisphosphate 5-phosphatase; inositol
                     polyphosphate-5-phosphatase, 75kDa"
                     /codon_start=1
                     /product="type II inositol 1,4,5-trisphosphate
                     5-phosphatase isoform 3"
                     /protein_id="NP_001337156.1"
                     /db_xref="GeneID:3633"
                     /db_xref="HGNC:HGNC:6077"
                     /db_xref="MIM:147264"
                     /translation="MVRSSTITVSDKAHILSMQKFGLRDTIVKSHLLQKEEDYTYIQN
                     FRFFAGTYNVNGQSPKECLRLWLSNGIQAPDVYCVGFQELDLSKEAFFFHDTPKEEEW
                     FKAVSEGLHPDAKYAKVKLIRLVGIMLLLYVKQEHAAYISEVEAETVGTGIMGRMGNK
                     GGVAIRFQFHNTSICVVNSHLAAHIEEYERRNQDYKDICSRMQFCQPDPSLPPLTISN
                     HDVILWLGDLNYRIEELDVEKVKKLIEEKDFQMLYAYDQLKIQVAAKTVFEGFTEGEL
                     TFQPTYKYDTGSDDWDTSEKCRAPAWCDRILWKGKNITQLSYQSHMALKTSDHKPVSS
                     VFDIGVRVVNDELYRKTLEEIVRSLDKMENANIPSVSLSKREFCFQNVKYMQLKVESF
                     TIHNGQVPCHFEFINKPDEESYCKQWLNANPSRGFLLPDSDVEIDLELFVNKMTATKL
                     NSGEDKIEDILVLHLDRGKDYFLSVSGNYLPSCFGSPIHTLCYMREPILDLPLETISE
                     LTLMPVWTGDDGSQLDSPMEIPKELWMMVDYLYRNAVQQEDLFQQPGLRSEFEHIRDC
                     LDTGMIDNLSASNHSVAEALLLFLESLPEPVICYSTYHNCLECSGNYTASKQVISTLP
                     IFHKNVFHYLMAFLRELLKNSAKNHLDENILASIFGSLLLRNPAGHQKLDMTEKKKAQ
                     EFIHQFLCNPL"
     exon            329..430
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            431..545
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            546..662
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            663..850
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            851..962
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1072
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1208
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            1209..1319
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..1482
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1718
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            1719..1832
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            1833..1917
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            1918..2045
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..2157
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     exon            2158..3891
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3870..3875
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /note="hexamer: GATAAA"
     polyA_site      3891
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /note="major polyA site"
ORIGIN      
        1 gaggagcttg aggaagcagg cagggaaatg tctgccgccg ccggctctcg ggagcgcaac
       61 actgcaggtg gttctaactt tgatggtttg agaccaaatg ggaagggagt gcctatggac
      121 caaagctcca ggggtcaaga taaaccagaa agcttgcaac caagaataaa tccaagtccg
      181 aaattactga catggttcgc tcctccacta tcacagtgtc ggacaaggct catattttat
      241 ccatgcagaa gtttggactg cgagatacaa ttgtgaaatc acatctacta cagaaagaag
      301 aggattacac ctatatccag aacttcaggt tttttgcggg aacatacaat gtaaatgggc
      361 agtcccccaa agaatgcctc cggctgtggc tgagcaatgg tatccaggcc ccagatgtct
      421 attgtgtagg gttccaggag cttgatctga gtaaggaagc ttttttcttt cacgataccc
      481 caaaggagga agagtggttc aaagctgtgt cagagggtct tcatccagat gccaaatatg
      541 caaaggtgaa gcttatccga ctggttggga ttatgctgct gttatatgtc aaacaggagc
      601 atgcagctta tatctcagaa gtggaagccg agactgtggg gacaggaatc atggggagga
      661 tgggcaacaa gggaggcgtg gcgatcaggt tccagttcca caacaccagc atctgcgttg
      721 tgaattctca cttggcagcc cacattgaag agtatgagag gaggaaccag gactataagg
      781 acatttgttc tcgaatgcag ttttgtcagc ctgacccaag ccttccccct ctcaccatca
      841 gcaaccatga tgtgatcttg tggctggggg acctcaacta caggatagaa gagctggatg
      901 tggaaaaagt gaaaaagctc atcgaagaga aggactttca aatgctgtat gcatatgatc
      961 agctgaaaat tcaggtggcc gcaaagactg tctttgaagg cttcacagag ggtgagctca
     1021 cattccagcc tacttacaag tatgatacgg gctctgacga ctgggatacc agtgagaagt
     1081 gccgtgctcc tgcctggtgt gatcggattc tctggaaagg gaagaacatc actcagctga
     1141 gttaccagag ccacatggcc ctgaagacca gtgaccacaa gcctgtcagc tcagtgtttg
     1201 acatcggggt gagggtcgta aatgacgagc tttaccggaa gacactggag gaaattgttc
     1261 gctccctgga taagatggaa aatgccaaca ttccttctgt gtccctgtcc aagcgagagt
     1321 tctgttttca gaatgtgaag tacatgcaat tgaaagtaga atcctttaca attcataatg
     1381 gacaagtacc ctgtcatttt gaattcatca acaagcctga tgaagagtct tactgtaagc
     1441 agtggctgaa tgccaacccc agcagaggct tcctcctgcc agattctgat gttgagattg
     1501 acttggagct cttcgtaaat aagatgacag ctacaaagct caactcgggt gaagacaaaa
     1561 ttgaggacat tctggttctg cacttggaca ggggaaagga ttactttttg tctgtgtctg
     1621 ggaactacct gcccagctgt tttgggtctc ccattcatac actgtgttac atgagagagc
     1681 caatcttgga cctaccactt gaaaccatta gtgagctgac tctgatgcca gtatggactg
     1741 gagatgatgg gagccagttg gatagcccca tggaaatccc caaagagctc tggatgatgg
     1801 ttgattacct gtaccgaaat gctgtccagc aggaagatct gtttcagcaa ccaggcctga
     1861 ggtcagaatt tgaacatatc agggactgct tggatactgg aatgattgat aacctctctg
     1921 ccagcaatca ttctgtagcc gaagccctgc tgcttttcct ggagagcctt ccagagcctg
     1981 tcatctgtta cagcacctac cataactgct tggagtgttc tggcaactac acagcaagca
     2041 aacaggtcat ttctactctc cccatattcc acaaaaatgt cttccactac ttgatggcgt
     2101 ttttgcgaga actgctgaaa aattcagcaa aaaatcattt ggatgagaat attctagcta
     2161 gcatatttgg cagcttattg cttcgaaacc cagctggtca ccaaaagctt gatatgacag
     2221 agaagaagaa ggctcaagaa tttattcacc agttcctctg caacccactc tgagcctctc
     2281 tctcctccta ttttacttga ggctgccaat taccagcccc acctgtttca gctcaagaga
     2341 tgccttaaga taattatgtg aggccacttg gtagcaagaa tggcagctat ttcctgagcc
     2401 tagtacccca attaagccca ccattggtta gcacactcag cgctgtgagt cgtgaagaca
     2461 cgggagaaaa tccaccataa taaaactgac attcaatttt caactttagt tatttaacac
     2521 agattttttt attttttatt tttttttatt ttgagacgga gttttgctct gtcgcgcagg
     2581 gtggagtgcg gtggcacgat ctcggctcac tgcaacctct gcctcctggg tgcaagcaat
     2641 tatcctgcct cagcctcccg agtagctggg actgcaggca cacactgcca cgcccagcta
     2701 attttttgca ttttagtaga gacggggttt caccgtgttg cccaggctgt tctaaaactc
     2761 ctgaactcag gtaatctgcc tgcctcggcc tccccaagtg ctaggattac agatgtgagc
     2821 caccacgccc ggcctttttt tttttttttt cttttttgag atggagtttc actcttgttg
     2881 cccaggctgg agtgcgttgg cgtggtcttg gctcactgca acctctgcct ccttggttca
     2941 agcaattctc ctgcctcagc ctctcgagta gctgggatta taggcgtccg ccaccatgcc
     3001 tggctaattt ttttgtgtgt ttttagtata gacacggttt caccatgttg gccaggctgg
     3061 tctcgaatgc ctggcctcag gtgatccacc tgccttggcc tcccaaagtg ctgggattac
     3121 aggcatgaac caccacgcct ggcctaaaat gtttttaaat aactgtactt gtactcactc
     3181 accctacctc cagggcatag tcagtctggg ctgagatccc catgatcaga tatttgatgg
     3241 aaagtcctga aaggccaatg agttggatgg caagaatgca ggcagaagct gctggataaa
     3301 ataggctaca gccacctcag atgctttcag tgctctgtct gaggatgtgt atatgcatat
     3361 gcaaactcga cccccgttcc tgcccagata atggctcaat aactctgagg ctggttgctc
     3421 agcctctgag ggcaatacag gcatttaaaa aattaaaatg accaggcaca gtggctcacg
     3481 cctgtaatct cggcactttg ggagactgag gtgggagcat cacttgagac caggagtttg
     3541 ggaccaggct gggcaacaca gggagacccc ctctctacaa aaacattttt aaaaaattag
     3601 ctgggtgtgg tgatgcatgc ctgtggtccc agttacttgg gaggctgacg tgggtggctc
     3661 acttgagcac aggagtttga ggctgcagtg acctatgacc acatcactgt acgccagccc
     3721 gggtgagaga gggagacccc gtctctaaaa ataaaatgta aaatcactga aaaaatgagt
     3781 gttcggtgaa acaagtggga ttttctgggc cagcaagtct tccaaactgt atatgatgca
     3841 tcctgtctcc atgtgtaata tattttaatg ataaatgtat ttttaacagt g
//
