LOCUS       NM_018390               5318 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens phosphatidylinositol specific phospholipase C X domain
            containing 1 (PLCXD1), transcript variant 1, mRNA.
ACCESSION   NM_018390
VERSION     NM_018390.4
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 5318)
  AUTHORS   Raudsepp,T. and Chowdhary,B.P.
  TITLE     The Eutherian Pseudoautosomal Region
  JOURNAL   Cytogenet Genome Res 147 (2-3), 81-94 (2015)
   PUBMED   26730606
  REMARK    Review article
REFERENCE   2  (bases 1 to 5318)
  AUTHORS   Otto,S.P., Pannell,J.R., Peichel,C.L., Ashman,T.L.,
            Charlesworth,D., Chippindale,A.K., Delph,L.F., Guerrero,R.F.,
            Scarpino,S.V. and McAllister,B.F.
  TITLE     About PAR: the distinct evolutionary dynamics of the
            pseudoautosomal region
  JOURNAL   Trends Genet 27 (9), 358-367 (2011)
   PUBMED   21962971
  REMARK    Review article
REFERENCE   3  (bases 1 to 5318)
  AUTHORS   Tarpey,P.S., Smith,R., Pleasance,E., Whibley,A., Edkins,S.,
            Hardy,C., O'Meara,S., Latimer,C., Dicks,E., Menzies,A.,
            Stephens,P., Blow,M., Greenman,C., Xue,Y., Tyler-Smith,C.,
            Thompson,D., Gray,K., Andrews,J., Barthorpe,S., Buck,G., Cole,J.,
            Dunmore,R., Jones,D., Maddison,M., Mironenko,T., Turner,R.,
            Turrell,K., Varian,J., West,S., Widaa,S., Wray,P., Teague,J.,
            Butler,A., Jenkinson,A., Jia,M., Richardson,D., Shepherd,R.,
            Wooster,R., Tejada,M.I., Martinez,F., Carvill,G., Goliath,R., de
            Brouwer,A.P., van Bokhoven,H., Van Esch,H., Chelly,J., Raynaud,M.,
            Ropers,H.H., Abidi,F.E., Srivastava,A.K., Cox,J., Luo,Y.,
            Mallya,U., Moon,J., Parnau,J., Mohammed,S., Tolmie,J.L.,
            Shoubridge,C., Corbett,M., Gardner,A., Haan,E., Rujirabanjerd,S.,
            Shaw,M., Vandeleur,L., Fullston,T., Easton,D.F., Boyle,J.,
            Partington,M., Hackett,A., Field,M., Skinner,C., Stevenson,R.E.,
            Bobrow,M., Turner,G., Schwartz,C.E., Gecz,J., Raymond,F.L.,
            Futreal,P.A. and Stratton,M.R.
  TITLE     A systematic, large-scale resequencing screen of X-chromosome
            coding exons in mental retardation
  JOURNAL   Nat Genet 41 (5), 535-543 (2009)
   PUBMED   19377476
REFERENCE   4  (bases 1 to 5318)
  AUTHORS   Das,P.J., Chowdhary,B.P. and Raudsepp,T.
  TITLE     Characterization of the bovine pseudoautosomal region and
            comparison with sheep, goat, and other mammalian pseudoautosomal
            regions
  JOURNAL   Cytogenet Genome Res 126 (1-2), 139-147 (2009)
   PUBMED   20016163
REFERENCE   5  (bases 1 to 5318)
  AUTHORS   Graves,J.A., Wakefield,M.J. and Toder,R.
  TITLE     The origin and evolution of the pseudoautosomal regions of human
            sex chromosomes
  JOURNAL   Hum Mol Genet 7 (13), 1991-1996 (1998)
   PUBMED   9817914
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX537334.4, BU594555.1,
            DA052662.1, BC005028.1 and BX000483.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_018390.3.
            
            Summary: This gene is the most terminal protein-coding gene in the
            pseudoautosomal (PAR) region on chromosomes X and Y. Alternate
            splicing results in multiple transcript variants. [provided by
            RefSeq, Mar 2010].
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.306042.1,
                                           SRR1803616.81601.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381657.8/ ENSP00000371073.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                BX537334.4         19405-19417         c
            14-16               BU594555.1         1-3
            17-572              DA052662.1         1-556
            573-1419            BC005028.1         492-1338
            1420-2759           BX537334.4         1-1340              c
            2760-4791           BX000483.7         1999-4030
            4792-5318           BC005028.1         1339-1865
FEATURES             Location/Qualifiers
     source          1..5318
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /chromosome="Y"
                     /map="X"
                     /map="Y"
     gene            1..5318
                     /gene="PLCXD1"
                     /gene_synonym="LL0XNC01-136G2.1"
                     /note="phosphatidylinositol specific phospholipase C X
                     domain containing 1"
                     /db_xref="GeneID:55344"
                     /db_xref="HGNC:HGNC:23148"
                     /db_xref="MIM:300974"
     exon            1..304
                     /gene="PLCXD1"
                     /gene_synonym="LL0XNC01-136G2.1"
                     /inference="alignment:Splign:2.1.0"
     exon            305..452
                     /gene="PLCXD1"
                     /gene_synonym="LL0XNC01-136G2.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             326..1297
                     /gene="PLCXD1"
                     /gene_synonym="LL0XNC01-136G2.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     PI-PLC X domain-containing protein 1"
                     /codon_start=1
                     /product="PI-PLC X domain-containing protein 1 isoform 1"
                     /protein_id="NP_060860.1"
                     /db_xref="CCDS:CCDS14103.1"
                     /db_xref="GeneID:55344"
                     /db_xref="HGNC:HGNC:23148"
                     /db_xref="MIM:300974"
                     /translation="MGGQVSASNSFSRLHCRNANEDWMSALCPRLWDVPLHHLSIPGS
                     HDTMTYCLNKKSPISHEESRLLQLLNKALPCITRPVVLKWSVTQALDVTEQLDAGVRY
                     LDLRIAHMLEGSEKNLHFVHMVYTTALVEDTLTEISEWLERHPREVVILACRNFEGLS
                     EDLHEYLVACIKNIFGDMLCPRGEVPTLRQLWSRGQQVIVSYEDESSLRRHHELWPGV
                     PYWWGNRVKTEALIRYLETMKSCGRPGGLFVAGINLTENLQYVLAHPSESLEKMTLPN
                     LPRLSAWVREQCPGPGSRCTNIIAGDFIGADGFVSDVIALNQKLLWC"
     exon            453..589
                     /gene="PLCXD1"
                     /gene_synonym="LL0XNC01-136G2.1"
                     /inference="alignment:Splign:2.1.0"
     exon            590..718
                     /gene="PLCXD1"
                     /gene_synonym="LL0XNC01-136G2.1"
                     /inference="alignment:Splign:2.1.0"
     exon            719..874
                     /gene="PLCXD1"
                     /gene_synonym="LL0XNC01-136G2.1"
                     /inference="alignment:Splign:2.1.0"
     exon            875..1058
                     /gene="PLCXD1"
                     /gene_synonym="LL0XNC01-136G2.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1059..5318
                     /gene="PLCXD1"
                     /gene_synonym="LL0XNC01-136G2.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5307..5312
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLCXD1"
                     /gene_synonym="LL0XNC01-136G2.1"
                     /note="hexamer: ATTAAA"
     polyA_site      5318
                     /gene="PLCXD1"
                     /gene_synonym="LL0XNC01-136G2.1"
                     /note="major polyA site"
ORIGIN      
        1 cttccgggca gcagggaaga tctgagttca tgtagctggt gttggcttag ggtctgggag
       61 gaaggctttt gggaagatgt aaataagaac aaaatctgca gccacctggg aagcctggcc
      121 tcagtgtgga agagaaggca gcaggattat tacagaacct tgtgaagcca acgcgggcag
      181 ccgccaggag ctgcagaccg agaggatctc gtcctttctt gcggcccagg gagaccaggc
      241 ctttcattct gggctcgaga ccaacaattc gaattccgaa ctccccctgc gtgtgggact
      301 caaggttgcc cagggctcac ctctgatggg tgggcaggtg agcgcttcca acagcttctc
      361 gaggctgcac tgcagaaatg ccaacgagga ctggatgtcg gcactgtgtc cccggctctg
      421 ggatgtgccc ctccaccacc tctccatccc agggagccac gacacgatga cgtactgcct
      481 gaacaagaag tcccccattt cgcacgagga gtcccggctg ctgcagctgc tgaacaaggc
      541 cttgccctgc atcacgcgcc ctgtcgtgct gaaatggtcc gtcacccagg cactggacgt
      601 cacagagcag ctggatgccg gggtgcggta cctggacctg cggatagccc acatgctgga
      661 gggctcggag aagaacctgc actttgtcca tatggtgtac acaacggcgc tggtggagga
      721 cacactcacg gaaatctcgg agtggctgga gcggcatcca cgcgaggtgg tcatcctggc
      781 ctgcagaaac ttcgaggggc tgagcgagga cctgcacgag tacctggtcg cctgtatcaa
      841 gaacatcttc ggggacatgc tgtgtcctcg tggggaggtg ccgacactgc ggcagctgtg
      901 gtcccggggc caacaggtca tcgtctccta tgaagacgag agctccttgc gccggcacca
      961 cgagctgtgg ccaggagtcc cctactggtg gggaaacagg gtgaagaccg aggccctcat
     1021 ccgatacctg gagaccatga agagctgcgg ccgcccagga gggttgttcg tggccggcat
     1081 caacctcacg gagaacctgc agtacgttct ggcgcacccg tccgagtccc tggagaagat
     1141 gacgctgccc aaccttccgc ggctgagcgc gtgggtccga gagcagtgcc cggggccggg
     1201 ttcacggtgc accaacatca tcgcggggga cttcatcggc gcagacggct tcgtcagtga
     1261 cgtcatcgcg ctcaatcaga agctgctgtg gtgctgacgg gacccttctg aagttcggga
     1321 cgcggcggct gcagtttcac ccccgaattt ccaagtattg tgactttgtt tgggccaaat
     1381 gttggtgatc ataggaccga tgataatacg ttttcatttt ctttaaaata gagatggggt
     1441 ggctgggcgt ggtgacttcg cctgtcttcc cagcactttg ggaggccgag gtgggtggat
     1501 catgaggtca ggagcttgag agcagcctga ccaacatggt gaaatcccat ctctactaaa
     1561 aatacaaaac ttagctgggt gtgtggcagg cgcctgtagt cccagttact cgggaggctc
     1621 aggcaggaga actgcttgaa gccgggagat ggaggttgca ttgagctgac atcgtgccac
     1681 tgcactccag tctgaatgat agaccgagac tccatctcaa aagaaaaaaa aacagccgag
     1741 tgtgcagtga ctcacgcctg tcatcccagc actttgggag gcgaaggcgg gtggaacatg
     1801 aggtcaggag ttcgagacca gcctgaccaa catggtgaaa ccccgtctct attaaaaaca
     1861 caaaaactac ctgggtgcgt gatgggcacc tgtagtgcca gctactcagg aggctgaggc
     1921 aggagaatgg cgtgaacccg ggaggtggag gttgcattga gctgagatcg tgccactgca
     1981 ctccagcctg ggcgacagag cgagactcca tctcaaaaaa aaaaaaaaaa aaaaagatgg
     2041 ggtctctcta tgttggccag gttggtcttg aactcctggc ctcaagtgat cctcccacct
     2101 cagcctccca gagtgctggg atgacagtca agaaccacca tggcagccca taatatgttt
     2161 tcttatttct gtattctcct tgctgtggcg tctggagccc ttacagaccc agggagacac
     2221 tatcctccca cagctcacta attactaaac acagtgacag cccacttagg agccggcctc
     2281 ccctgtcagc caacccctca gctagttctc acaccaagcc tatagatata tatgtgtgtg
     2341 tatatatgtg tgtttatgtg tctgtgtgta tatatgtgta tatatcggtg tgtatatatg
     2401 tatgtatgtt tatacatgtg tatatgtgtg tgtgtgtgtg tatatgtgtg tatgtgtgta
     2461 tatatgtata tgtgtgcata tgtgtatacg tgtatgcata catgtatatg tgtatgcatg
     2521 tatatgtgta tgtgtacatg tatatgtgtt tatacatgta tatgtgtgta tgcgtgtata
     2581 cgtgtatgta tacatgtata tgtgtgtatg cgtgtatata cacacgtata catatatacg
     2641 tgcgtgtgta tgtgtatata tatatatgtg tatatatata ttttttgagg agtctcactc
     2701 tgtcacccag gctggagtgc aacggcgaga tctcggctca ccgcaacctc cgcctccctg
     2761 gttcaagcaa ttctcctgcc tccgcctccc gagtagctgg gatgacaggc atgtgccacc
     2821 acacccgact aatttcatat atttagtaga gacggggttt ctccgcgttg gtcaggccgt
     2881 tctcaaactt ctgacctcag gtgatctgcc cgcctcgacc tcccaaagtg ctgggatgac
     2941 aggcatgagc cactgtgccc agccgccgat atttctttaa attatgttta gggacagggt
     3001 ctttttctgt cacccaggct ggagggcagt ggtacagtca tagctcactg cagcctcaac
     3061 ctcctgggct caagcgatcc tctcagctca gcctcccgtg tagctggggc tccagggaca
     3121 cacccccact gctggctaat ttttgtattt ttggtagagt cagggtttca ccacatggca
     3181 cagtctggtc tcaaattcct gggctccagt gatcctccca ccttagcttc cagagtggcc
     3241 aggatcacag gcaggcacca ccatgcccag gtaattttat ttttttgtag agacgtggtc
     3301 tggctatgtt gtccagggtg gtctcaaact cctgggctca actgatcctc ccacctcaac
     3361 ctctgccata gccaggacct caggtgtcag ccaccacacc cacagctaat tttttttgta
     3421 gagatggggt ctggctctgt tgctcaggct ggtgtgtagt aggggcacag tcatagctca
     3481 ctgtaacctt caacgcctgg gctgaagcaa ttctcccgcc tcagcttccc aagtaactgg
     3541 gagtataggt gtacaccacc atgcccagct aattatttag tagtagtagg aggagtatta
     3601 tgtttgagat ggagtctcgc tctgtcgccc aggctggagt gcagtggcgc agtctcagct
     3661 cactgcaacc tctgcctccc aggttcaagc aattcttgtg cctcagcctc ctgagtagct
     3721 gggattacag gcgcccgcca ccgcgcctgg ctaacttttg tatttttagc agagatgggg
     3781 tttcaccatg ttgcccaggc tggtcttgaa ctcccgacct caggtgatcc atccgcattg
     3841 gcctcccaaa gtgctgggat cacaggcgtg agccaccgca cctggcctca agccagtatt
     3901 tccctggccc taaatcattc ctggctgggt cccagcccag tagagccagc cccccagccc
     3961 ggagtgctac tgaagtgttc aaaagttgtc aatcctcagc cgttccctag tcctgttgcc
     4021 cggttctgcc gaagcccctt gaaggctgtg gcctgggctg ttccctcatt cattcctgcc
     4081 tcccgagcca aacccaggta tccgcttgtg ccctgcgtgg tgtggcagcg tcttctctcg
     4141 ggaagggtca ggagtaattt cttctttcag tggcctctct gtgctagtcc cggtcacctc
     4201 cgtgaattaa agtcctacag gtacaaggga gacccccccc ccacggaagg cgcccccagt
     4261 ccgtgtggga gactcgcaca ccggttttct gcacaggttt ctttctgcct ctgaagcgtg
     4321 aacggtccta gtttcagacg cagatcctgc aaatactttt ttttgttttt ttgagatgga
     4381 ttttccctct tgttgttcag gctggagtgc aatggcacga tctcagctca ctgcaacctc
     4441 tgcctcccgg gttcaagtga ttctcctgcc tcagcctccc gaggagctga gattacaggc
     4501 gcgtgccacc gtgcctggtt aattttgtat ttgtattttt atttatgttt tgagacggag
     4561 tttcgctctc gttgccgagg ctggagtgta gtagtgtgat cctggctcac tgcaacctcc
     4621 acctcccggg ttccagcaaa ttctcctgcc tcagcctccc aagtagctgg gattgcaggc
     4681 gcccgccacc acgcccggat aatttttgtg tgtttagcag agacggggtt tcaccatgtt
     4741 ggccaggctg gtctcgatct cctgacctca ggtgatccac ccgcctcggc ctcccaaagt
     4801 gctgggatga caggcgtgag ccaccgcgcc cggcctatac ctcattttct acatgtcgct
     4861 tgttggagct gctggttcaa gttcccagcc agccaatgga tgccagcacc atttttactc
     4921 ccctttccca agcaaatcgt gcatttttgt ctaacgagag acatcagttt ctcaggatga
     4981 tcctcaagaa cgttatggag tccatgttgc aataggttct ctttgggacc taatgactca
     5041 ttttccaaaa atccgcttct acttttggta cccggttgct acggtgaaat gaaggtgccc
     5101 cgcatccaga aagacgcact cctggaccac aaccggcggc tacctcagcc ccacggctct
     5161 gcaggatcag ggctcgggca ggccccgcgg agatgaagaa tttgcaggga gcctccctga
     5221 cttccgtcgg ctgtgaatcc ttgtctgtca ggggcgtatc cacaaaatca ccgaattcat
     5281 acagatcgtt taaataaatg aacatcatta aagtcaaa
//
