LOCUS       NM_004897               2470 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens multiple inositol-polyphosphate phosphatase 1
            (MINPP1), transcript variant 1, mRNA.
ACCESSION   NM_004897
VERSION     NM_004897.5
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 2470)
  AUTHORS   Nguyen Trung,M., Kieninger,S., Fandi,Z., Qiu,D., Liu,G.,
            Mehendale,N.K., Saiardi,A., Jessen,H., Keller,B. and Fiedler,D.
  TITLE     Stable Isotopomers of myo-Inositol Uncover a Complex
            MINPP1-Dependent Inositol Phosphate Network
  JOURNAL   ACS Cent Sci 8 (12), 1683-1694 (2022)
   PUBMED   36589890
REFERENCE   2  (bases 1 to 2470)
  AUTHORS   Appelhof,B., Wagner,M., Hoefele,J., Heinze,A., Roser,T.,
            Koch-Hogrebe,M., Roosendaal,S.D., Dehghani,M., Mehrjardi,M.Y.V.,
            Torti,E., Houlden,H., Maroofian,R., Rajabi,F., Sticht,H., Baas,F.,
            Wieczorek,D. and Jamra,R.A.
  TITLE     Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
  JOURNAL   Eur J Hum Genet 29 (3), 411-421 (2021)
   PUBMED   33168985
  REMARK    GeneRIF: Pontocerebellar hypoplasia due to bi-allelic variants in
            MINPP1.
REFERENCE   3  (bases 1 to 2470)
  AUTHORS   Ucuncu,E., Rajamani,K., Wilson,M.S.C., Medina-Cano,D., Altin,N.,
            David,P., Barcia,G., Lefort,N., Banal,C., Vasilache-Dangles,M.T.,
            Pitelet,G., Lorino,E., Rabasse,N., Bieth,E., Zaki,M.S., Topcu,M.,
            Sonmez,F.M., Musaev,D., Stanley,V., Bole-Feysot,C., Nitschke,P.,
            Munnich,A., Bahi-Buisson,N., Fossoud,C., Giuliano,F., Colleaux,L.,
            Burglen,L., Gleeson,J.G., Boddaert,N., Saiardi,A. and Cantagrel,V.
  TITLE     MINPP1 prevents intracellular accumulation of the chelator inositol
            hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
  JOURNAL   Nat Commun 11 (1), 6087 (2020)
   PUBMED   33257696
  REMARK    GeneRIF: MINPP1 prevents intracellular accumulation of the chelator
            inositol hexakisphosphate and is mutated in Pontocerebellar
            Hypoplasia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2470)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2470)
  AUTHORS   Kilaparty,S.P., Agarwal,R., Singh,P., Kannan,K. and Ali,N.
  TITLE     Endoplasmic reticulum stress-induced apoptosis accompanies enhanced
            expression of multiple inositol polyphosphate phosphatase 1
            (Minpp1): a possible role for Minpp1 in cellular stress response
  JOURNAL   Cell Stress Chaperones 21 (4), 593-608 (2016)
   PUBMED   27038811
  REMARK    GeneRIF: Minpp1 exhibits characteristics of a stress responsive
            molecule during Endoplasmic reticulum stress-induced apoptosis
REFERENCE   6  (bases 1 to 2470)
  AUTHORS   Gimm,O., Chi,H., Dahia,P.L., Perren,A., Hinze,R., Komminoth,P.,
            Dralle,H., Reynolds,P.R. and Eng,C.
  TITLE     Somatic mutation and germline variants of MINPP1, a phosphatase
            gene located in proximity to PTEN on 10q23.3, in follicular thyroid
            carcinomas
  JOURNAL   J Clin Endocrinol Metab 86 (4), 1801-1805 (2001)
   PUBMED   11297621
REFERENCE   7  (bases 1 to 2470)
  AUTHORS   Chi,H., Yang,X., Kingsley,P.D., O'Keefe,R.J., Puzas,J.E.,
            Rosier,R.N., Shears,S.B. and Reynolds,P.R.
  TITLE     Targeted deletion of Minpp1 provides new insight into the activity
            of multiple inositol polyphosphate phosphatase in vivo
  JOURNAL   Mol Cell Biol 20 (17), 6496-6507 (2000)
   PUBMED   10938126
REFERENCE   8  (bases 1 to 2470)
  AUTHORS   Chi,H., Tiller,G.E., Dasouki,M.J., Romano,P.R., Wang,J.,
            O'keefe,R.J., Puzas,J.E., Rosier,R.N. and Reynolds,P.R.
  TITLE     Multiple inositol polyphosphate phosphatase: evolution as a
            distinct group within the histidine phosphatase family and
            chromosomal localization of the human and mouse genes to
            chromosomes 10q23 and 19
  JOURNAL   Genomics 56 (3), 324-336 (1999)
   PUBMED   10087200
REFERENCE   9  (bases 1 to 2470)
  AUTHORS   Caffrey,J.J., Hidaka,K., Matsuda,M., Hirata,M. and Shears,S.B.
  TITLE     The human and rat forms of multiple inositol polyphosphate
            phosphatase: functional homology with a histidine acid phosphatase
            up-regulated during endochondral ossification
  JOURNAL   FEBS Lett 442 (1), 99-104 (1999)
   PUBMED   9923613
REFERENCE   10 (bases 1 to 2470)
  AUTHORS   Romano,P.R., Wang,J., O'Keefe,R.J., Puzas,J.E., Rosier,R.N. and
            Reynolds,P.R.
  TITLE     HiPER1, a phosphatase of the endoplasmic reticulum with a role in
            chondrocyte maturation
  JOURNAL   J Cell Sci 111 (Pt 6), 803-813 (1998)
   PUBMED   9472008
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355334.26, BC032504.1 and AW243689.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004897.4.
            
            Summary: This gene encodes multiple inositol polyphosphate
            phosphatase; an enzyme that removes 3-phosphate from inositol
            phosphate substrates. It is the only enzyme known to hydrolzye
            inositol pentakisphosphate and inositol hexakisphosphate. This
            enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to
            2-phosphoglycerate; an activity formerly thought to be exclusive to
            2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering
            shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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##
            Transcript exon combination :: SRR1660803.209324.1,
                                           SRR1660807.137017.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371996.9/ ENSP00000361064.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                AL355334.26        128278-128298
            22-2397             BC032504.1         1-2376
            2398-2470           AW243689.1         10-82               c
FEATURES             Location/Qualifiers
     source          1..2470
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.2"
     gene            1..2470
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
                     /note="multiple inositol-polyphosphate phosphatase 1"
                     /db_xref="GeneID:9562"
                     /db_xref="HGNC:HGNC:7102"
                     /db_xref="MIM:605391"
     exon            1..660
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1487
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
                     /EC_number="3.1.3.62"
                     /EC_number="3.1.3.80"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; multiple inositol polyphosphate phosphatase 2;
                     multiple inositol polyphosphate histidine phosphatase, 1;
                     inositol (1,3,4,5)-tetrakisphosphate 3-phosphatase;
                     ins(1,3,4,5)P(4) 3-phosphatase; 2,3-BPG phosphatase;
                     2,3-bisphosphoglycerate 3-phosphatase"
                     /codon_start=1
                     /product="multiple inositol polyphosphate phosphatase 1
                     isoform 1 precursor"
                     /protein_id="NP_004888.2"
                     /db_xref="CCDS:CCDS7384.1"
                     /db_xref="GeneID:9562"
                     /db_xref="HGNC:HGNC:7102"
                     /db_xref="MIM:605391"
                     /translation="MLRAPGCLLRTSVAPAAALAAALLSSLARCSLLEPRDPVASSLS
                     PYFGTKTRYEDVNPVLLSGPEAPWRDPELLEGTCTPVQLVALIRHGTRYPTVKQIRKL
                     RQLHGLLQARGSRDGGASSTGSRDLGAALADWPLWYADWMDGQLVEKGRQDMRQLALR
                     LASLFPALFSRENYGRLRLITSSKHRCMDSSAAFLQGLWQHYHPGLPPPDVADMEFGP
                     PTVNDKLMRFFDHCEKFLTEVEKNATALYHVEAFKTGPEMQNILKKVAATLQVPVNDL
                     NADLIQVAFFTCSFDLAIKGVKSPWCDVFDIDDAKVLEYLNDLKQYWKRGYGYTINSR
                     SSCTLFQDIFQHLDKAVEQKQRSQPISSPVILQFGHAETLLPLLSLMGYFKDKEPLTA
                     YNYKKQMHRKFRSGLIVPYASNLIFVLYHCENAKTPKEQFRVQMLLNEKVLPLAYSQE
                     TVSFYEDLKNHYKDILQSCQTSEECELARANSTSDEL"
     exon            661..858
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
                     /inference="alignment:Splign:2.1.0"
     exon            859..956
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1090
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..2470
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2373..2378
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
                     /note="hexamer: AATAAA"
     polyA_site      2397
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
                     /note="major polyA site"
     regulatory      2437..2442
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
                     /note="hexamer: AATAAT"
     polyA_site      2470
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
ORIGIN      
        1 gcactccact gaccgtcccg acgatgctac gcgcgcccgg ctgcctcctc cggacctccg
       61 tagcgcctgc cgcggccctg gctgcggcgc tgctctcgtc gcttgcgcgc tgctctcttc
      121 tagagccgag ggacccggtg gcctcgtcgc tcagccccta tttcggcacc aagactcgct
      181 acgaggatgt caaccccgtg ctattgtcgg gccccgaggc tccgtggcgg gaccctgagc
      241 tgctggaggg gacctgcacc ccggtgcagc tggtcgccct cattcgccac ggcacccgct
      301 accccacggt caaacagatc cgcaagctga ggcagctgca cgggttgctg caggcccgcg
      361 ggtccaggga tggcggggct agtagtaccg gcagccgcga cctgggtgca gcgctggccg
      421 actggccttt gtggtacgcg gactggatgg acgggcagct agtagagaag ggacggcagg
      481 atatgcgaca gctggcgctg cgtctggcct cgctcttccc ggcccttttc agccgtgaga
      541 actacggccg cctgcggctc atcaccagtt ccaagcaccg ctgcatggat agcagcgccg
      601 ccttcctgca ggggctgtgg cagcactacc accctggctt gccgccgccg gacgtcgcag
      661 atatggagtt tggacctcca acagttaatg ataaactaat gagatttttt gatcactgtg
      721 agaagttttt aactgaagta gaaaaaaatg ctacagctct ttatcacgtg gaagccttca
      781 aaactggacc agaaatgcag aacattttaa aaaaagttgc agctactttg caagtgccag
      841 taaatgattt aaatgcagat ttaattcaag tagccttttt cacctgttca tttgacctgg
      901 caattaaagg tgttaaatct ccttggtgtg atgtttttga catagatgat gcaaaggtat
      961 tagaatattt aaatgatctg aaacaatatt ggaaaagagg atatgggtat actattaaca
     1021 gtcgatccag ctgcaccttg tttcaggata tctttcagca cttggacaaa gcagttgaac
     1081 agaaacaaag gtctcagcca atttcttctc cagtcatcct ccagtttggt catgcagaga
     1141 ctcttcttcc actgctttct ctcatgggct acttcaaaga caaggaaccc ctaacagcgt
     1201 acaattacaa aaaacaaatg catcggaagt tccgaagtgg tctcattgta ccttatgcct
     1261 cgaacctgat atttgtgctt taccactgtg aaaatgctaa gactcctaaa gaacaattcc
     1321 gagtgcagat gttattaaat gaaaaggtgt tacctttggc ttactcacaa gaaactgttt
     1381 cattttatga agatctgaag aaccactaca aggacatcct tcagagttgt caaaccagtg
     1441 aagaatgtga attagcaagg gctaacagta catctgatga actatgagta actgaagaac
     1501 atttttaatt ctttaggaat ctgcaatgag tgattacatg cttgtaatag gtaggcaatt
     1561 ccttgattac aggaagcttt tatattactt gagtatttct gtcttttcac agaaaaacat
     1621 tgggtttctc tctgggtttg gacatgaaat gtaagaaaag atttttcact ggagcagctc
     1681 tcttaaggag aaacaaatct atttagagaa acagctggcc ctgcaaatgt ttacagaaat
     1741 gaaattcttc ctacttatat aagaaatctc acactgagat agaattgtga tttcataata
     1801 acacttgaaa agtgctggag taacaaaata tctcagttgg accatcctta acttgattga
     1861 actgtctagg aactttacag attgttctgc agttctctct tcttttcctc aggtaggaca
     1921 gctctagcat tttcttaatc aggaatattg tggtaagctg ggagtatcac tctggaagaa
     1981 agtaacatct ccagatgaga atttgaaaca agaaacagag tgttgtaaaa ggacaccttc
     2041 actgaagcaa gtcggaaagt acaatgaaaa taaatatttt tggtatttat ttatgaaata
     2101 tttgaacatt ttttcaataa ttccttttta cttctaggaa gtctcaaaag accatcttaa
     2161 attattatat gtttggacaa ttagcaacaa gtcagatagt tagaatcgaa gtttttcaaa
     2221 tccattgctt agctaacttt ttcattctgt cacttggctt cgatttttat attttcctat
     2281 tatatgaaat gtatcttttg gttgtttgat ttttctttct ttctttgtaa atagttctga
     2341 gttctgtcaa atgccgtgaa agtatttgct ataataaaga aaattcttgt gactttacta
     2401 ccaggacttt tctcttcccc atgtcaaaat acaatcaata attgatggta aaagtttgga
     2461 aattcaagca
//
