LOCUS       NM_005021               3165 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3
            (ENPP3), transcript variant 1, mRNA.
ACCESSION   NM_005021
VERSION     NM_005021.5
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 3165)
  AUTHORS   Qin,Y., Li,Y., Hao,Y., Li,Y. and Kang,S.
  TITLE     Hypomethylation of the ENPP3 promoter region contributes to the
            occurrence and development of ovarian endometriosis via the
            AKT/mTOR/4EBP1 signaling pathway
  JOURNAL   Biomol Biomed 24 (4), 848-856 (2023)
   PUBMED   38149831
  REMARK    GeneRIF: Hypomethylation of the ENPP3 promoter region contributes
            to the occurrence and development of ovarian endometriosis via the
            AKT/mTOR/4EBP1 signaling pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3165)
  AUTHORS   Sadovnik,I., Ivanov,D., Smiljkovic,D., Stefanzl,G.,
            Degenfeld-Schonburg,L., Herndlhofer,S., Eisenwort,G.,
            Hauswirth,A.W., Sliwa,T., Keil,F., Sperr,W.R. and Valent,P.
  TITLE     Identification of CD203c as a New Basophil-Specific Flow-Marker in
            Ph+ Chronic Myeloid Leukemia
  JOURNAL   Cells 12 (1), 3 (2022)
   PUBMED   36611797
  REMARK    GeneRIF: Identification of CD203c as a New Basophil-Specific
            Flow-Marker in Ph[+] Chronic Myeloid Leukemia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3165)
  AUTHORS   Qi,Z., Xue,Q., Wang,H., Cao,B., Su,Y., Xing,Q. and Yang,J.J.
  TITLE     Serum CD203c+ Extracellular Vesicle Serves as a Novel Diagnostic
            and Prognostic Biomarker for Succinylated Gelatin Induced
            Perioperative Hypersensitive Reaction
  JOURNAL   Front Immunol 12, 732209 (2021)
   PUBMED   34650557
  REMARK    GeneRIF: Serum CD203c+ Extracellular Vesicle Serves as a Novel
            Diagnostic and Prognostic Biomarker for Succinylated Gelatin
            Induced Perioperative Hypersensitive Reaction.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3165)
  AUTHORS   Imamura,S., Washio,K., Mizuno,M., Oda,Y., Fukunaga,A. and
            Nishigori,C.
  TITLE     Activated steady status and distinctive FcepsilonRI-mediated
            responsiveness in basophils of atopic dermatitis
  JOURNAL   Allergol Int 70 (3), 327-334 (2021)
   PUBMED   33674191
  REMARK    GeneRIF: Activated steady status and distinctive
            FcepsilonRI-mediated responsiveness in basophils of atopic
            dermatitis.
REFERENCE   5  (bases 1 to 3165)
  AUTHORS   Heneberg,P., Riegerova,K., Rihova,A., Simcikova,D. and Kucera,P.
  TITLE     Updates on the surface antigens of basophils: CD16 on basophils of
            patients with respiratory or insect venom allergy and the rejection
            of CD203c and CD63 externalization decoupling by
            bisindolylmaleimides
  JOURNAL   Clin Exp Allergy 49 (1), 54-67 (2019)
   PUBMED   30288810
  REMARK    GeneRIF: Updates on the surface antigens of basophils: CD16 on
            basophils of patients with respiratory or insect venom allergy and
            the rejection of CD203c and CD63 externalization decoupling by
            bisindolylmaleimides.
REFERENCE   6  (bases 1 to 3165)
  AUTHORS   Vollmayer,P., Clair,T., Goding,J.W., Sano,K., Servos,J. and
            Zimmermann,H.
  TITLE     Hydrolysis of diadenosine polyphosphates by nucleotide
            pyrophosphatases/phosphodiesterases
  JOURNAL   Eur J Biochem 270 (14), 2971-2978 (2003)
   PUBMED   12846830
REFERENCE   7  (bases 1 to 3165)
  AUTHORS   Buhring,H.J., Seiffert,M., Giesert,C., Marxer,A., Kanz,L.,
            Valent,P. and Sano,K.
  TITLE     The basophil activation marker defined by antibody 97A6 is
            identical to the ectonucleotide pyrophosphatase/phosphodiesterase 3
  JOURNAL   Blood 97 (10), 3303-3305 (2001)
   PUBMED   11342463
REFERENCE   8  (bases 1 to 3165)
  AUTHORS   Andoh,K., Piao,J.H., Terashima,K., Nakamura,H. and Sano,K.
  TITLE     Genomic structure and promoter analysis of the
            ecto-phosphodiesterase I gene (PDNP3) expressed in glial cells
  JOURNAL   Biochim Biophys Acta 1446 (3), 213-224 (1999)
   PUBMED   10524196
REFERENCE   9  (bases 1 to 3165)
  AUTHORS   Johnson,K., Vaingankar,S., Chen,Y., Moffa,A., Goldring,M.B.,
            Sano,K., Jin-Hua,P., Sali,A., Goding,J. and Terkeltaub,R.
  TITLE     Differential mechanisms of inorganic pyrophosphate production by
            plasma cell membrane glycoprotein-1 and B10 in chondrocytes
  JOURNAL   Arthritis Rheum 42 (9), 1986-1997 (1999)
   PUBMED   10513816
REFERENCE   10 (bases 1 to 3165)
  AUTHORS   Jin-Hua,P., Goding,J.W., Nakamura,H. and Sano,K.
  TITLE     Molecular cloning and chromosomal localization of PD-Ibeta (PDNP3),
            a new member of the human phosphodiesterase I genes
  JOURNAL   Genomics 45 (2), 412-415 (1997)
   PUBMED   9344668
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY106781.1, AL121575.24,
            EF560735.1 and AK024899.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005021.4.
            
            Summary: The protein encoded by this gene belongs to a series of
            ectoenzymes that are involved in hydrolysis of extracellular
            nucleotides. These ectoenzymes possess ATPase and ATP
            pyrophosphatase activities and are type II transmembrane proteins.
            Expression of the related rat mRNA has been found in a subset of
            immature glial cells and in the alimentary tract. The corresponding
            rat protein has been detected in the pancreas, small intestine,
            colon, and liver. The human mRNA is expressed in glioma cells,
            prostate, and uterus. Expression of the human protein has been
            detected in uterus, basophils, and mast cells. Two transcript
            variants, one protein coding and the other non-protein coding, have
            been found for this gene. [provided by RefSeq, Oct 2015].
            
            Transcript Variant: This variant (1) represents the longer,
            protein-coding transcript.
            
            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 :: AK024899.1, AK292903.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357639.8/ ENSP00000350265.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                HY106781.1         291-333
            44-44               AL121575.24        137650-137650
            45-2769             EF560735.1         22-2746
            2770-3165           AK024899.1         2770-3165
FEATURES             Location/Qualifiers
     source          1..3165
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.2"
     gene            1..3165
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /note="ectonucleotide pyrophosphatase/phosphodiesterase 3"
                     /db_xref="GeneID:5169"
                     /db_xref="HGNC:HGNC:3358"
                     /db_xref="MIM:602182"
     exon            1..161
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..2711
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /EC_number="3.1.4.1"
                     /EC_number="3.6.1.9"
                     /note="phosphodiesterase-I beta; gp130RB13-6;
                     phosphodiesterase I/nucleotide pyrophosphatase 3;
                     dJ914N13.3 (phosphodiesterase I/nucleotide pyrophosphatase
                     3); NPPase; dJ1005H11.3 (phosphodiesterase I/nucleotide
                     pyrophosphatase 3); nucleotide diphosphatase; alkaline
                     phosphodiesterase I; dinucleoside polyphosphatase"
                     /codon_start=1
                     /product="ectonucleotide pyrophosphatase/phosphodiesterase
                     family member 3"
                     /protein_id="NP_005012.2"
                     /db_xref="CCDS:CCDS5148.1"
                     /db_xref="GeneID:5169"
                     /db_xref="HGNC:HGNC:3358"
                     /db_xref="MIM:602182"
                     /translation="MESTLTLATEQPVKKNTLKKYKIACIVLLALLVIMSLGLGLGLG
                     LRKLEKQGSCRKKCFDASFRGLENCRCDVACKDRGDCCWDFEDTCVESTRIWMCNKFR
                     CGETRLEASLCSCSDDCLQRKDCCADYKSVCQGETSWLEENCDTAQQSQCPEGFDLPP
                     VILFSMDGFRAEYLYTWDTLMPNINKLKTCGIHSKYMRAMYPTKTFPNHYTIVTGLYP
                     ESHGIIDNNMYDVNLNKNFSLSSKEQNNPAWWHGQPMWLTAMYQGLKAATYFWPGSEV
                     AINGSFPSIYMPYNGSVPFEERISTLLKWLDLPKAERPRFYTMYFEEPDSSGHAGGPV
                     SARVIKALQVVDHAFGMLMEGLKQRNLHNCVNIILLADHGMDQTYCNKMEYMTDYFPR
                     INFFYMYEGPAPRIRAHNIPHDFFSFNSEEIVRNLSCRKPDQHFKPYLTPDLPKRLHY
                     AKNVRIDKVHLFVDQQWLAVRSKSNTNCGGGNHGYNNEFRSMEAIFLAHGPSFKEKTE
                     VEPFENIEVYNLMCDLLRIQPAPNNGTHGSLNHLLKVPFYEPSHAEEVSKFSVCGFAN
                     PLPTESLDCFCPHLQNSTQLEQVNQMLNLTQEEITATVKVNLPFGRPRVLQKNVDHCL
                     LYHREYVSGFGKAMRMPMWSSYTVPQLGDTSPLPPTVPDCLRADVRVPPSESQKCSFY
                     LADKNITHGFLYPPASNRTSDSQYDALITSNLVPMYEEFRKMWDYFHSVLLIKHATER
                     NGVNVVSGPIFDYNYDGHFDAPDEITKHLANTDVPIPTHYFVVLTSCKNKSHTPENCP
                     GWLDVLPFIIPHRPTNVESCPEGKPEALWVEERFTAHIARVRDVELLTGLDFYQDKVQ
                     PVSEILQLKTYLPTFETTI"
     exon            162..237
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            238..360
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            361..486
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            487..547
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            548..645
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            646..725
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            726..845
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            846..955
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1021
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1094
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1203
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1335
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1367
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1368..1495
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1496..1562
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1563..1650
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..1829
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1830..1881
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1882..2036
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2037..2172
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2173..2250
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2251..2383
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2384..2540
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2541..3165
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2796..2801
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /note="hexamer: AATAAA"
     polyA_site      2820
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /note="major polyA site"
     regulatory      3146..3151
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /note="hexamer: ATTAAA"
     polyA_site      3165
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /note="major polyA site"
ORIGIN      
        1 atacagtttc tctttgccag actagactaa agaaggagca ctaatttatt ctgataaaac
       61 aggtctatgc agctaccagg acaatggaat ctacgttgac tttagcaacg gaacaacctg
      121 ttaagaagaa cactcttaag aaatataaaa tagcttgcat tgttcttctt gctttgctgg
      181 tgatcatgtc acttggatta ggcctggggc ttggactcag gaaactggaa aagcaaggca
      241 gctgcaggaa gaagtgcttt gatgcatcat ttagaggact ggagaactgc cggtgtgatg
      301 tggcatgtaa agaccgaggt gattgctgct gggattttga agacacctgt gtggaatcaa
      361 ctcgaatatg gatgtgcaat aaatttcgtt gtggagagac cagattagag gccagccttt
      421 gctcttgttc agatgactgt ttgcagagga aagattgctg tgctgactat aagagtgttt
      481 gccaaggaga aacctcatgg ctggaagaaa actgtgacac agcccagcag tctcagtgcc
      541 cagaagggtt tgacctgcca ccagttatct tgttttctat ggatggattt agagctgaat
      601 atttatacac atgggatact ttaatgccaa atatcaataa actgaaaaca tgtggaattc
      661 attcaaaata catgagagct atgtatccta ccaaaacctt cccaaatcat tacaccattg
      721 tcacgggctt gtatccagag tcacatggca tcattgacaa taatatgtat gatgtaaatc
      781 tcaacaagaa tttttcactt tcttcaaagg aacaaaataa tccagcctgg tggcatgggc
      841 aaccaatgtg gctgacagca atgtatcaag gtttaaaagc cgctacctac ttttggcccg
      901 gatcagaagt ggctataaat ggctcctttc cttccatata catgccttac aacggaagtg
      961 tcccatttga agagaggatt tctacactgt taaaatggct ggacctgccc aaagctgaaa
     1021 gacccaggtt ttataccatg tattttgaag aacctgattc ctctggacat gcaggtggac
     1081 cagtcagtgc cagagtaatt aaagccttac aggtagtaga tcatgctttt gggatgttga
     1141 tggaaggcct gaagcagcgg aatttgcaca actgtgtcaa tatcatcctt ctggctgacc
     1201 atggaatgga ccagacttat tgtaacaaga tggaatacat gactgattat tttcccagaa
     1261 taaacttctt ctacatgtac gaagggcctg ccccccgcat ccgagctcat aatatacctc
     1321 atgacttttt tagttttaat tctgaggaaa ttgttagaaa cctcagttgc cgaaaacctg
     1381 atcagcattt caagccctat ttgactcctg atttgccaaa gcgactgcac tatgccaaga
     1441 acgtcagaat cgacaaagtt catctctttg tggatcaaca gtggctggct gttaggagta
     1501 aatcaaatac aaattgtgga ggaggcaacc atggttataa caatgagttt aggagcatgg
     1561 aggctatctt tctggcacat ggacccagtt ttaaagagaa gactgaagtt gaaccatttg
     1621 aaaatattga agtctataac ctaatgtgtg atcttctacg cattcaacca gcaccaaaca
     1681 atggaaccca tggtagttta aaccatcttc tgaaggtgcc tttttatgag ccatcccatg
     1741 cagaggaggt gtcaaagttt tctgtttgtg gctttgctaa tccattgccc acagagtctc
     1801 ttgactgttt ctgccctcac ctacaaaata gtactcagct ggaacaagtg aatcagatgc
     1861 taaatctcac ccaagaagaa ataacagcaa cagtgaaagt aaatttgcca tttgggaggc
     1921 ctagggtact gcagaagaac gtggaccact gtctccttta ccacagggaa tatgtcagtg
     1981 gatttggaaa agctatgagg atgcccatgt ggagttcata cacagtcccc cagttgggag
     2041 acacatcgcc tctgcctccc actgtcccag actgtctgcg ggctgatgtc agggttcctc
     2101 cttctgagag ccaaaaatgt tccttctatt tagcagacaa gaatatcacc cacggcttcc
     2161 tctatcctcc tgccagcaat agaacatcag atagccaata tgatgcttta attactagca
     2221 atttggtacc tatgtatgaa gaattcagaa aaatgtggga ctacttccac agtgttcttc
     2281 ttataaaaca tgccacagaa agaaatggag taaatgtggt tagtggacca atatttgatt
     2341 ataattatga tggccatttt gatgctccag atgaaattac caaacattta gccaacactg
     2401 atgttcccat cccaacacac tactttgtgg tgctgaccag ttgtaaaaac aagagccaca
     2461 caccggaaaa ctgccctggg tggctggatg tcctaccctt tatcatccct caccgaccta
     2521 ccaacgtgga gagctgtcct gaaggtaaac cagaagctct ttgggttgaa gaaagattta
     2581 cagctcacat tgcccgggtc cgtgatgtag aacttctcac tgggcttgac ttctatcagg
     2641 ataaagtgca gcctgtctct gaaattttgc aactaaagac atatttacca acatttgaaa
     2701 ccactattta acttaataat gtctacttaa tatataattt actgtataaa gtaattttgg
     2761 caaaatataa gtgatttttt tctggagaat tgtaaaataa agttttctat ttttccttaa
     2821 gtcccctaaa agccataatt tttattattc ctttttctct tttttcaatt ctatgaatat
     2881 gtattatttt aaagttatat ttttcacaca gagatgatgc tatattacac cttccctttt
     2941 ttgttggttt cttaaactct aatctcatga cagattatac cttccttatt acttgtttta
     3001 tcttactcag aatctttgaa tatatttttc tgcccagaat tatctaaaca aaagggagaa
     3061 caaaagaagt atgtctcact tgggaactga atcaactcta aatcagtttt gtcacaaaac
     3121 tttttgtatt tgactggcaa tgctgattaa aattaaaaat gcaca
//
