LOCUS       NM_006225               2651 bp    mRNA    linear   PRI 23-MAR-2024
DEFINITION  Homo sapiens phospholipase C delta 1 (PLCD1), transcript variant 2,
            mRNA.
ACCESSION   NM_006225
VERSION     NM_006225.4
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 2651)
  AUTHORS   Wang,Z., Guan,W., Ma,Y., Zhou,X., Song,G., Wei,J. and Wang,C.
  TITLE     MicroRNA-191 regulates oral squamous cell carcinoma cells growth by
            targeting PLCD1 via the Wnt/beta-catenin signaling pathway
  JOURNAL   BMC Cancer 23 (1), 668 (2023)
   PUBMED   37460940
  REMARK    GeneRIF: MicroRNA-191 regulates oral squamous cell carcinoma cells
            growth by targeting PLCD1 via the Wnt/beta-catenin signaling
            pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2651)
  AUTHORS   Tian,Y., Li,X., Bai,C., Yang,Z., Zhang,L., Luo,J. and Zhang,W.
  TITLE     lncRNA MIR503HG Targets miR-191-5p/PLCD1 Axis and Negatively
            Modulates Apoptosis, Extracellular Matrix Disruption, and
            Inflammation in Abdominal Aortic Aneurysm
  JOURNAL   Mediators Inflamm 2023, 4003618 (2023)
   PUBMED   37228901
  REMARK    GeneRIF: lncRNA MIR503HG Targets miR-191-5p/PLCD1 Axis and
            Negatively Modulates Apoptosis, Extracellular Matrix Disruption,
            and Inflammation in Abdominal Aortic Aneurysm.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2651)
  AUTHORS   Lieberoth,S., Kumar,S., Brusgaard,K., Ousager,L.B., Betz,R.C. and
            Bygum,A.
  TITLE     Identification of a Novel PLCD1 Variant in a Danish Family with
            Hereditary Leukonychia
  JOURNAL   Skinmed 21 (1), 44-46 (2023)
   PUBMED   36987828
  REMARK    GeneRIF: Identification of a Novel PLCD1 Variant in a Danish Family
            with Hereditary Leukonychia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2651)
  AUTHORS   Kiuru,M., Kurban,M., Itoh,M., Petukhova,L., Shimomura,Y., Wajid,M.
            and Christiano,A.M.
  TITLE     Hereditary leukonychia, or porcelain nails, resulting from
            mutations in PLCD1
  JOURNAL   Am J Hum Genet 88 (6), 839-844 (2011)
   PUBMED   21665001
  REMARK    GeneRIF: these data show that mutations in PLCD1 underlie
            hereditary leukonychia, revealing a gene involved in molecular
            control of nail growth.
REFERENCE   5  (bases 1 to 2651)
  AUTHORS   Ghosh,S., Pawelczyk,T. and Lowenstein,J.M.
  TITLE     Phospholipase C isoforms delta 1 and delta 3 from human
            fibroblasts. High-yield expression in Escherichia coli, simple
            purification, and properties
  JOURNAL   Protein Expr Purif 9 (2), 262-278 (1997)
   PUBMED   9056492
REFERENCE   6  (bases 1 to 2651)
  AUTHORS   Ishikawa,S., Takahashi,T., Ogawa,M. and Nakamura,Y.
  TITLE     Genomic structure of the human PLCD1 (phospholipase C delta 1)
            locus on 3p22-->p21.3
  JOURNAL   Cytogenet Cell Genet 78 (1), 58-60 (1997)
   PUBMED   9345909
REFERENCE   7  (bases 1 to 2651)
  AUTHORS   Lyu,M.S., Park,D.J., Rhee,S.G. and Kozak,C.A.
  TITLE     Genetic mapping of the human and mouse phospholipase C genes
  JOURNAL   Mamm Genome 7 (7), 501-504 (1996)
   PUBMED   8672127
REFERENCE   8  (bases 1 to 2651)
  AUTHORS   Zauli,G., Previati,M., Caramelli,E., Bassini,A., Falcieri,E.,
            Gibellini,D., Bertolaso,L., Bosco,D., Robuffo,I. and Capitani,S.
  TITLE     Exogenous human immunodeficiency virus type-1 Tat protein
            selectively stimulates a phosphatidylinositol-specific
            phospholipase C nuclear pathway in the Jurkat T cell line
  JOURNAL   Eur J Immunol 25 (9), 2695-2700 (1995)
   PUBMED   7589147
REFERENCE   9  (bases 1 to 2651)
  AUTHORS   Cheng,H.F., Jiang,M.J., Chen,C.L., Liu,S.M., Wong,L.P.,
            Lomasney,J.W. and King,K.
  TITLE     Cloning and identification of amino acid residues of human
            phospholipase C delta 1 essential for catalysis
  JOURNAL   J Biol Chem 270 (10), 5495-5505 (1995)
   PUBMED   7890667
REFERENCE   10 (bases 1 to 2651)
  AUTHORS   Berridge,M.J.
  TITLE     Inositol trisphosphate and calcium signalling
  JOURNAL   Nature 361 (6410), 315-325 (1993)
   PUBMED   8381210
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292324.1 and BC050382.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_006225.3.
            
            Summary: This gene encodes a member of the phospholipase C family.
            Phospholipase C isozymes play critical roles in intracellular
            signal transduction by catalyzing the hydrolysis of
            phosphatidylinositol 4,5-bisphosphate (PIP2) into the second
            messengers diacylglycerol (DAG) and inositol triphosphate (IP3).
            The encoded protein functions as a tumor suppressor in several
            types of cancer, and mutations in this gene are a cause of
            hereditary leukonychia. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene.
            [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (2) contains an alternate 5'
            terminal exon compared to transcript variant 1, and initiates
            translation from an in-frame upstream AUG, resulting in a shorter
            isoform (2) with a different N-terminus compared to 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 :: GQ900974.1, BC050382.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334661.5/ ENSP00000335600.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-405               AK292324.1         22-426
            406-2651            BC050382.1         391-2636
FEATURES             Location/Qualifiers
     source          1..2651
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     gene            1..2651
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /note="phospholipase C delta 1"
                     /db_xref="GeneID:5333"
                     /db_xref="HGNC:HGNC:9060"
                     /db_xref="MIM:602142"
     exon            1..137
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..2374
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /EC_number="3.1.4.11"
                     /note="isoform 2 is encoded by transcript variant 2;
                     PLC-delta-1; phospholipase C-III; Phospholipase C I 1;
                     phosphoinositide phospholipase C-delta-1;
                     1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase
                     delta-1; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase delta-1 isoform 2"
                     /protein_id="NP_006216.2"
                     /db_xref="CCDS:CCDS2671.1"
                     /db_xref="GeneID:5333"
                     /db_xref="HGNC:HGNC:9060"
                     /db_xref="MIM:602142"
                     /translation="MDSGRDFLTLHGLQDDEDLQALLKGSQLLKVKSSSWRRERFYKL
                     QEDCKTIWQESRKVMRTPESQLFSIEDIQEVRMGHRTEGLEKFARDVPEDRCFSIVFK
                     DQRNTLDLIAPSPADAQHWVLGLHKIIHHSGSMDQRQKLQHWIHSCLRKADKNKDNKM
                     SFKELQNFLKELNIQVDDSYARKIFRECDHSQTDSLEDEEIEAFYKMLTQRVEIDRTF
                     AEAAGSGETLSVDQLVTFLQHQQREEAAGPALALSLIERYEPSETAKAQRQMTKDGFL
                     MYLLSADGSAFSLAHRRVYQDMGQPLSHYLVSSSHNTYLLEDQLAGPSSTEAYIRALC
                     KGCRCLELDCWDGPNQEPIIYHGYTFTSKILFCDVLRAIRDYAFKASPYPVILSLENH
                     CTLEQQRVMARHLHAILGPMLLNRPLDGVTNSLPSPEQLKGKILLKGKKLGGLLPPGG
                     EGGPEATVVSDEDEAAEMEDEAVRSRVQHKPKEDKLRLAQELSDMVIYCKSVHFGGFS
                     SPGTPGQAFYEMASFSENRALRLLQESGNGFVRHNVGHLSRIYPAGWRTDSSNYSPVE
                     MWNGGCQIVALNFQTPGPEMDVYQGRFQDNGACGYVLKPAFLRDPNGTFNPRALAQGP
                     WWARKRLNIRVISGQQLPKVNKNKNSIVDPKVTVEIHGVSRDVASRQTAVITNNGFNP
                     WWDTEFAFEVVVPDLALIRFLVEDYDASSKNDFIGQSTIPLNSLKQGYRHVHLMSKNG
                     DQHPSATLFVKISLQD"
     exon            138..302
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            303..531
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            532..661
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            662..893
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            894..1095
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1240
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1390
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1549
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            1550..1709
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            1710..1826
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            1827..2005
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            2006..2138
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            2139..2288
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     exon            2289..2651
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2629..2634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /note="hexamer: TATAAA"
     polyA_site      2651
                     /gene="PLCD1"
                     /gene_synonym="NDNC3; PLC-III"
                     /note="major polyA site"
ORIGIN      
        1 attcaggtcc ctgcaccgca ctccgctcgg accccaggcc gccggtgctg tcgctactca
       61 agtgagtccc gcggtgcccc tcccgccgcg ccgcccgtcg ggcatggact cgggccggga
      121 cttcctgacc ctgcacggcc tacaggatga tgaggatcta caggcgctgc tgaagggcag
      181 ccagctcctg aaggtgaagt ccagctcatg gaggagagag cgcttctaca agttgcagga
      241 ggactgcaag accatctggc aggagtcccg caaggtcatg cggaccccgg agtcccagct
      301 gttctccatc gaggacattc aggaggtgcg aatggggcac cgcacggagg gtctggagaa
      361 gttcgcccgt gatgtgcccg aggaccgctg cttctccatt gtcttcaagg accagcgcaa
      421 tacactagac ctcatcgccc catcgccagc tgatgcccag cactgggtgc tggggctgca
      481 caagatcatc caccactcag gctccatgga ccagcgtcag aagctacagc actggattca
      541 ctcctgcttg cgaaaagctg acaaaaacaa ggacaacaag atgagcttca aggagctgca
      601 gaacttcctg aaggagctca acatccaggt ggacgacagc tatgcccgga agatcttcag
      661 ggagtgtgac cactcccaga cagactccct ggaggacgag gagattgagg ccttctacaa
      721 gatgctgacc cagcgggtgg agatcgaccg caccttcgcc gaggccgcgg gctcagggga
      781 gactctgtcg gtggatcagt tagtgacgtt cctgcagcac cagcagcggg aggaggcggc
      841 agggcctgcg ctggccctct ccctcattga gcgctacgag cccagcgaga ctgccaaggc
      901 gcagcggcag atgaccaagg acggcttcct catgtactta ctgtcggctg acggcagcgc
      961 cttcagcctg gcacaccgcc gtgtctacca ggacatgggc cagccactta gccactacct
     1021 ggtgtcctct tcacacaaca cctacctgct ggaggaccag ctagccgggc ccagcagcac
     1081 tgaagcctac atccgggcac tgtgcaaagg ctgccgatgc ctggagcttg actgctggga
     1141 cgggcccaac caggaaccaa tcatctacca cggctatact ttcacttcca agatcctctt
     1201 ctgcgatgtg ctcagggcca tccgggacta tgccttcaag gcgtccccct accctgtcat
     1261 cctatccctg gagaaccact gcacactgga gcagcagcgc gtgatggcgc ggcacctgca
     1321 tgccatcctg ggccccatgc tgttgaaccg accactggat ggggtcacca acagcctgcc
     1381 ctcccctgag caactgaagg ggaagatcct gctgaagggg aagaagctcg gggggctcct
     1441 gccccctgga ggggagggtg gccctgaggc cactgtggtg tcagacgaag acgaggctgc
     1501 tgagatggag gatgaggcag tgaggagccg tgtgcagcac aagcccaagg aggacaagct
     1561 caggctagca caggagctct ctgacatggt catttactgc aagagtgtcc actttggggg
     1621 cttctccagt cctggcaccc ctggacaggc cttctacgag atggcgtcct tctctgagaa
     1681 ccgtgccctt cgactgctcc aagaatcagg aaacggcttt gtccgccaca acgtggggca
     1741 cctgagcaga atctacccgg ctggatggag aacagactcc tccaactaca gccccgtgga
     1801 gatgtggaat gggggctgcc agatcgtggc cctgaatttc cagacacctg ggccagagat
     1861 ggacgtgtac cagggccgct tccaggacaa cggggcctgt gggtacgtgc tgaagcccgc
     1921 cttcctgcga gaccccaacg gcacctttaa cccccgcgcc ctggctcagg ggccctggtg
     1981 ggcacggaag cggctcaaca tcagggtcat ttcggggcag cagctgccaa aagtcaacaa
     2041 gaataagaat tcaattgtgg accccaaagt gacagtggag atccatggcg tgagccggga
     2101 cgtggccagc cgccagactg ctgtcatcac caacaatggt ttcaacccat ggtgggacac
     2161 ggagtttgcg tttgaggtag ttgtgcctga ccttgccctc atccgcttct tggtggaaga
     2221 ttatgatgcc tcctccaaga atgacttcat tggccagagt accatcccct tgaacagcct
     2281 caagcaagga taccgccatg tccacctcat gtctaagaac ggggaccagc atccatcagc
     2341 caccctcttt gtgaagatct ccctccagga ctaggctgga ggaagccagt ggggtccccc
     2401 ctgagtgggc tgggccctct gtccacatgt ggggacaggg ctggtgtggc tgctcccagc
     2461 ctcttgctca gagctaggcc cccaaattgc cttcagccct aacatagtgt ctgctgctgc
     2521 ctccctgggg accaggagct agcccagtcc ctggagctgt ccttcattcc gttaggaata
     2581 acactgcagc cctctccacc ctccggccag cgagtggtca aggattttta taaaaatcac
     2641 gataagatta a
//
