LOCUS       NM_021222               3025 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens prune exopolyphosphatase 1 (PRUNE1), transcript
            variant 1, mRNA.
ACCESSION   NM_021222
VERSION     NM_021222.3
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 3025)
  AUTHORS   Xu,J., Wang,Y., Li,P., Chen,C., Jiang,Z., Wang,X. and Liu,P.
  TITLE     PRUNE1 (located on chromosome 1q21.3) promotes multiple myeloma
            with 1q21 Gain by enhancing the links between purine and
            mitochondrion
  JOURNAL   Br J Haematol 203 (4), 599-613 (2023)
   PUBMED   37666675
  REMARK    GeneRIF: PRUNE1 (located on chromosome 1q21.3) promotes multiple
            myeloma with 1q21 Gain by enhancing the links between purine and
            mitochondrion.
REFERENCE   2  (bases 1 to 3025)
  AUTHORS   Gholizadeh,M.A., Mohammadi-Sarband,M., Fardanesh,F. and
            Garshasbi,M.
  TITLE     Neurodevelopmental disorder with microcephaly, hypotonia, and
            variable brain anomalies in a consanguineous Iranian family is
            associated with a homozygous start loss variant in the PRUNE1 gene
  JOURNAL   BMC Med Genomics 15 (1), 78 (2022)
   PUBMED   35379233
  REMARK    GeneRIF: Neurodevelopmental disorder with microcephaly, hypotonia,
            and variable brain anomalies in a consanguineous Iranian family is
            associated with a homozygous start loss variant in the PRUNE1 gene.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3025)
  AUTHORS   Koko,M., Yahia,A., Elsayed,L.E., Hamed,A.A., Mohammed,I.N.,
            Elseed,M.A., Hamad,M.H.A., Babai,A.M., Siddig,R.A., Abd
            Allah,A.S.I., Mohamed,M., El-Amin,M., Esteves,T., Altmuller,J.,
            Toliat,M.R., Thiele,H., Nurnberg,P., Salih,M.A., Ahmed,A.E.,
            Lerche,H. and Stevanin,G.
  TITLE     An identical-by-descent novel splice-donor variant in PRUNE1 causes
            a neurodevelopmental syndrome with prominent dystonia in two
            consanguineous Sudanese families
  JOURNAL   Ann Hum Genet 85 (5), 186-195 (2021)
   PUBMED   34111303
  REMARK    GeneRIF: An identical-by-descent novel splice-donor variant in
            PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia
            in two consanguineous Sudanese families.
REFERENCE   4  (bases 1 to 3025)
  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 3025)
  AUTHORS   Nistala,H., Dronzek,J., Gonzaga-Jauregui,C., Chim,S.M.,
            Rajamani,S., Nuwayhid,S., Delgado,D., Burke,E., Karaca,E.,
            Franklin,M.C., Sarangapani,P., Podgorski,M., Tang,Y.,
            Dominguez,M.G., Withers,M., Deckelbaum,R.A., Scheonherr,C.J.,
            Gahl,W.A., Malicdan,M.C., Zambrowicz,B., Gale,N.W., Gibbs,R.A.,
            Chung,W.K., Lupski,J.R. and Economides,A.N.
  TITLE     NMIHBA results from hypomorphic PRUNE1 variants that lack
            short-chain exopolyphosphatase activity
  JOURNAL   Hum Mol Genet 29 (21), 3516-3531 (2021)
   PUBMED   33105479
  REMARK    GeneRIF: NMIHBA results from hypomorphic PRUNE1 variants that lack
            short-chain exopolyphosphatase activity.
REFERENCE   6  (bases 1 to 3025)
  AUTHORS   Middelhaufe,S., Garzia,L., Ohndorf,U.M., Kachholz,B., Zollo,M. and
            Steegborn,C.
  TITLE     Domain mapping on the human metastasis regulator protein h-Prune
            reveals a C-terminal dimerization domain
  JOURNAL   Biochem J 407 (2), 199-205 (2007)
   PUBMED   17655525
  REMARK    GeneRIF: Prune is composed of two independent active sites and two
            interaction sites for the assembly of oligomeric signalling
            complexes
REFERENCE   7  (bases 1 to 3025)
  AUTHORS   Kobayashi,T., Hino,S., Oue,N., Asahara,T., Zollo,M., Yasui,W. and
            Kikuchi,A.
  TITLE     Glycogen synthase kinase 3 and h-prune regulate cell migration by
            modulating focal adhesions
  JOURNAL   Mol Cell Biol 26 (3), 898-911 (2006)
   PUBMED   16428445
  REMARK    GeneRIF: GSK-3 and h-prune cooperatively regulate the disassembly
            of focal adhesions to promote cell migration and that h-prune is
            useful as a marker for tumor aggressiveness.
REFERENCE   8  (bases 1 to 3025)
  AUTHORS   Zollo,M., Andre,A., Cossu,A., Sini,M.C., D'Angelo,A., Marino,N.,
            Budroni,M., Tanda,F., Arrigoni,G. and Palmieri,G.
  TITLE     Overexpression of h-prune in breast cancer is correlated with
            advanced disease status
  JOURNAL   Clin Cancer Res 11 (1), 199-205 (2005)
   PUBMED   15671547
  REMARK    GeneRIF: prune has a role in breast neoplasm aggressiveness
            Erratum:[Clin Cancer Res. 2005 Feb 1;11(3):1353]
REFERENCE   9  (bases 1 to 3025)
  AUTHORS   Forus,A., D'Angelo,A., Henriksen,J., Merla,G., Maelandsmo,G.M.,
            Florenes,V.A., Olivieri,S., Bjerkehagen,B., Meza-Zepeda,L.A., del
            Vecchio Blanco,F., Muller,C., Sanvito,F., Kononen,J., Nesland,J.M.,
            Fodstad,O., Reymond,A., Kallioniemi,O.P., Arrigoni,G., Ballabio,A.,
            Myklebost,O. and Zollo,M.
  TITLE     Amplification and overexpression of PRUNE in human sarcomas and
            breast carcinomas-a possible mechanism for altering the nm23-H1
            activity
  JOURNAL   Oncogene 20 (47), 6881-6890 (2001)
   PUBMED   11687967
REFERENCE   10 (bases 1 to 3025)
  AUTHORS   Reymond,A., Volorio,S., Merla,G., Al-Maghtheh,M., Zuffardi,O.,
            Bulfone,A., Ballabio,A. and Zollo,M.
  TITLE     Evidence for interaction between human PRUNE and nm23-H1 NDPKinase
  JOURNAL   Oncogene 18 (51), 7244-7252 (1999)
   PUBMED   10602478
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA719664.1, BC025304.1 and
            AK027875.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_021222.2.
            
            Summary: This gene encodes a member of the DHH protein superfamily
            of phosphoesterases. This protein has been found to function as
            both a nucleotide phosphodiesterase and an exopolyphosphatase. This
            protein is believed to stimulate cancer progression and metastases
            through the induction of cell motility. A pseuodgene has been
            identified on chromosome 13. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Dec 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: SRR3476690.862267.1,
                                           SRR1803615.44571.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000271620.8/ ENSP00000271620.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                DA719664.1         59-106
            49-1374             BC025304.1         1-1326
            1375-1375           AK027875.1         566-566
            1376-3025           BC025304.1         1328-2977
FEATURES             Location/Qualifiers
     source          1..3025
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..3025
                     /gene="PRUNE1"
                     /gene_synonym="DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA;
                     PRUNE"
                     /note="prune exopolyphosphatase 1"
                     /db_xref="GeneID:58497"
                     /db_xref="HGNC:HGNC:13420"
                     /db_xref="MIM:617413"
     exon            1..223
                     /gene="PRUNE1"
                     /gene_synonym="DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA;
                     PRUNE"
                     /inference="alignment:Splign:2.1.0"
     CDS             185..1546
                     /gene="PRUNE1"
                     /gene_synonym="DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA;
                     PRUNE"
                     /EC_number="3.6.1.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Drosophila-related expressed sequence 17; protein prune
                     homolog 1; exopolyphosphatase PRUNE1"
                     /codon_start=1
                     /product="exopolyphosphatase PRUNE1 isoform 1"
                     /protein_id="NP_067045.1"
                     /db_xref="CCDS:CCDS977.1"
                     /db_xref="GeneID:58497"
                     /db_xref="HGNC:HGNC:13420"
                     /db_xref="MIM:617413"
                     /translation="MEDYLQGCRAALQESRPLHVVLGNEACDLDSTVSALALAFYLAK
                     TTEAEEVFVPVLNIKRSELPLRGDIVFFLQKVHIPESILIFRDEIDLHALYQAGQLTL
                     ILVDHHILSKSDTALEEAVAEVLDHRPIEPKHCPPCHVSVELVGSCATLVTERILQGA
                     PEILDRQTAALLHGTIILDCVNMDLKIGKATPKDSKYVEKLEALFPDLPKRNDIFDSL
                     QKAKFDVSGLTTEQMLRKDQKTIYRQGVKVAISAIYMDLEAFLQRSNLLADLHAFCQA
                     HSYDVLVAMTIFFNTHNEPVRQLAIFCPHVALQTTICEVLERSHSPPLKLTPASSTHP
                     NLHAYLQGNTQVSRKKLLPLLQEALSAYFDSMKIPSGQPETADVSREQVDKELDRASN
                     SLISGLSQDEEDPPLPPTPMNSLVDECPLDQGLPKLSAEAVFEKCSQISLSQSTTASL
                     SKK"
     exon            224..316
                     /gene="PRUNE1"
                     /gene_synonym="DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA;
                     PRUNE"
                     /inference="alignment:Splign:2.1.0"
     exon            317..519
                     /gene="PRUNE1"
                     /gene_synonym="DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA;
                     PRUNE"
                     /inference="alignment:Splign:2.1.0"
     exon            520..704
                     /gene="PRUNE1"
                     /gene_synonym="DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA;
                     PRUNE"
                     /inference="alignment:Splign:2.1.0"
     exon            705..863
                     /gene="PRUNE1"
                     /gene_synonym="DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA;
                     PRUNE"
                     /inference="alignment:Splign:2.1.0"
     exon            864..958
                     /gene="PRUNE1"
                     /gene_synonym="DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA;
                     PRUNE"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1117
                     /gene="PRUNE1"
                     /gene_synonym="DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA;
                     PRUNE"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..3025
                     /gene="PRUNE1"
                     /gene_synonym="DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA;
                     PRUNE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3005..3010
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRUNE1"
                     /gene_synonym="DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA;
                     PRUNE"
                     /note="hexamer: ATTAAA"
     polyA_site      3025
                     /gene="PRUNE1"
                     /gene_synonym="DRES-17; DRES17; H-PRUNE; HTCD37; NMIHBA;
                     PRUNE"
                     /note="major polyA site"
ORIGIN      
        1 gcccgcttac gcagttcctc ccggggtcgg aggccgattc gccgtgtggc gggttcgagt
       61 cccgcctcct gactctggcc tctagtccct gagtcccggg cgggctgcat tcgtcgggga
      121 aacctctcct cgaccagggg cacctctact cgaccagggg cgacggcgta ctttgggctt
      181 catcatggag gactacctgc agggttgtcg agctgctctg caggagtccc gacctctaca
      241 tgttgtgctg ggaaatgaag cctgtgattt ggactccaca gtgtctgctc ttgccctggc
      301 tttttaccta gcaaagacaa ctgaggctga ggaagtcttt gtgccagttt taaatataaa
      361 acgttctgaa ctacctctgc gaggtgacat tgtcttcttt cttcagaagg ttcatattcc
      421 agagagtatc ttgatttttc gggatgagat tgacctccat gcattatacc aggctggcca
      481 actcaccctc atccttgtcg accatcatat cttatccaaa agtgacacag ccctagagga
      541 ggcagtagca gaggtgctag accatcgacc catcgagccg aaacactgcc ctccctgcca
      601 tgtttcagtt gagctggtgg ggtcctgtgc taccctggtg accgagagaa tcctgcaggg
      661 ggcaccagag atcttggaca ggcaaactgc agcccttctg catggaacca tcatcctgga
      721 ctgtgtcaac atggacctta aaattggaaa ggcaacccca aaggacagca aatatgtgga
      781 gaaactagag gcccttttcc cagacctacc caagagaaat gatatatttg attccctaca
      841 aaaggcaaag tttgatgtat caggactgac cactgagcag atgctgagaa aagaccagaa
      901 gactatctat agacaaggcg tcaaggtggc cattagtgca atatatatgg atttggaggc
      961 ctttctgcag aggtctaacc tccttgcaga tctccatgct ttctgccagg ctcacagcta
     1021 tgatgtcctg gttgccatga ctatcttttt caacactcac aatgagccag tgcggcagtt
     1081 ggctattttc tgtccccatg tggcactcca aacaacgatc tgtgaagtcc tggaacgctc
     1141 ccactctcca cccctgaagc tgacccctgc ctcaagtacc caccctaacc tccatgccta
     1201 tcttcaaggc aacacccagg tctctcgaaa gaaacttctg cccctgctcc aggaagccct
     1261 gtcagcatat tttgactcca tgaagatccc ttcaggacag cctgagacag cagatgtgtc
     1321 cagggagcaa gtggacaagg aattggacag ggcaagtaac tccctgattt ctggcctgag
     1381 tcaagatgag gaggaccctc cgctgccccc gacgcccatg aacagcttgg tggatgagtg
     1441 ccctctagat caggggctgc ctaaactctc tgctgaggcc gtcttcgaga agtgcagtca
     1501 gatctcactg tcacagtcta ccacagcctc cctgtccaag aagtgactgt tgagaggcga
     1561 ggaggtagtg ggtgaggcta cctgactcac ttcaaatgca tgttttgaga tgtttggaga
     1621 ttcagcaatt ctgtcttcat tgctccagga tctggtatac tgttctcata aaactgagag
     1681 gagaaaaaaa gtgaaagaaa gcagctgctt taagaatggt tttccacctt ttccccctaa
     1741 tctctaccaa tcagacacat tttattattt aaatctgcac ctctctctat tttatttgcc
     1801 aggggcacga tgtgacatat ctgcagtccc agcacagtgg gacaaaaaga atttagaccc
     1861 caaaagtgtc ctcggcatgg atcttgaaca gaaccagtat ctgtcatgga actgaacatt
     1921 catcgatggt ctccatgtat tcatttattc acttgttcat tcaagtattt attgaatacc
     1981 tgcctcaagc tagagagaaa agagagtgcg ctttggaaat ttattccagt tttcagccta
     2041 cagcagatta tcagctcggt gacttttctt tctgccacca tttaggtgat ggtgtttgat
     2101 tcagagatgg ctgaatttct attcttagct tattgtgact gtttcagatc tagtttggga
     2161 acagattaga ggccattgtc ttctgtcctg atcaggtggc ctggctgttt ctttggatcc
     2221 ctctgtccca gagccaccca gaaccctgac tcttgagaat caagaaaaca cccagaaagg
     2281 ccttaatgac ctcataggca ctcttccaaa aagacaacag aactggaatg agaggcctgg
     2341 gtctgtctcc tgccttagca ggcctatcaa tttcttgtca atctcttttt ttccttgctc
     2401 acattaaaag gaagcatgga gttctaatgc tcccataaac tatgtatttt ggcaagacac
     2461 ttcactactc caggtctcac tttccccatc tgtaaaacag ggtttggact aggtgttccc
     2521 tggtattctg tgatctgcct cttgctgcca ttctttctct cctctgcttc tctgtatttt
     2581 tcttctgtta tccctggggg tgctcaggtt cacttgattg tctgtatttc tgtgtggttg
     2641 tagcaaggac tcagcctcat gtagcacgaa taggggtgtg gttcatggcg tgttgaccca
     2701 gcagagcact ccctcccact aacttgttct gcatgtgtag agtctcccca ttttttttaa
     2761 cgcaaccctt tccccttttt cctaccccac agctctgttc catgtaagtt gccaacagtt
     2821 tcactgaaca gtggggtatg tgatggtttt ggcatgacat cttcagtatg agggggacag
     2881 tttgacttca ctttgagggt gtgatgtctg tagctatgtg gaaggtaaaa atagtggtgt
     2941 gatcatgaac caaaggaatt tatgttttgt aacttgggta ctttattttg cattttgtta
     3001 tactattaaa taattttttc ctgtt
//
