LOCUS       NM_001329788            3733 bp    mRNA    linear   PRI 16-FEB-2024
DEFINITION  Homo sapiens zona pellucida like domain containing 1 (ZPLD1),
            transcript variant 2, mRNA.
ACCESSION   NM_001329788
VERSION     NM_001329788.2
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 3733)
  AUTHORS   Gianfrancesco,F., Esposito,T., Penco,S., Maglione,V., Liquori,C.L.,
            Patrosso,M.C., Zuffardi,O., Ciccodicola,A., Marchuk,D.A. and
            Squitieri,F.
  TITLE     ZPLD1 gene is disrupted in a patient with balanced translocation
            that exhibits cerebral cavernous malformations
  JOURNAL   Neuroscience 155 (2), 345-349 (2008)
   PUBMED   18632209
  REMARK    GeneRIF: this protein may be part of the complex signaling pathway
            implicated in cerebral cavernous malformation formation
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY090780.1, BC143817.1 and AC069529.22.
            
            On Aug 13, 2020 this sequence version replaced NM_001329788.1.
            
            Transcript Variant: This variant (2) contains an alternate exon
            compared to variant 1. The resulting isoform (2) is shorter at the
            N-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC143817.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000466937.2/ ENSP00000418253.1
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AY090780.1         1-18
            19-400              BC143817.1         1-382
            401-401             AC069529.22        63606-63606
            402-1549            BC143817.1         384-1531
            1550-3733           AY090780.1         1436-3619
FEATURES             Location/Qualifiers
     source          1..3733
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q12.3"
     gene            1..3733
                     /gene="ZPLD1"
                     /note="zona pellucida like domain containing 1"
                     /db_xref="GeneID:131368"
                     /db_xref="HGNC:HGNC:27022"
                     /db_xref="MIM:615915"
     exon            1..140
                     /gene="ZPLD1"
                     /inference="alignment:Splign:2.1.0"
     exon            141..254
                     /gene="ZPLD1"
                     /inference="alignment:Splign:2.1.0"
     exon            255..368
                     /gene="ZPLD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             263..1510
                     /gene="ZPLD1"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; zona pellucida-like domain-containing protein
                     1; ZP domain-containing protein 1; cupulin"
                     /codon_start=1
                     /product="zona pellucida-like domain-containing protein 1
                     isoform 2 precursor"
                     /protein_id="NP_001316717.1"
                     /db_xref="CCDS:CCDS87115.1"
                     /db_xref="GeneID:131368"
                     /db_xref="HGNC:HGNC:27022"
                     /db_xref="MIM:615915"
                     /translation="MEQIWLLLLLTIRVLPGSAQFNGYNCDANLHSRFPAERDISVYC
                     GVQAITMKINFCTVLFSGYSETDLALNGRHGDSHCRGFINNNTFPAVVIFIINLSTLE
                     GCGNNLVVSTIPGVSAYGNATSVQVGNISGYIDTPDPPTIISYLPGLLYKFSCSYPLE
                     YLVNNTQLASSSAAISVRENNGTFVSTLNLLLYNDSTYNQQLIIPSIGLPLKTKVFAA
                     VQATNLDGRWNVLMDYCYTTPSGNPNDDIRYDLFLSCDKDPQTTVIENGRSQRGRFSF
                     EVFRFVKHKNQKMSTVFLHCVTKLCRADDCPFLMPICSHRERRDAGRRTTWSPQSSSG
                     SAVLSAGPIITRSDETPTNNSQLGSPSMPPFQLNAITSALISGMVILGVTSFSLLLCS
                     LALLHRKGPTSLVLNGIRNPVFD"
     exon            369..589
                     /gene="ZPLD1"
                     /inference="alignment:Splign:2.1.0"
     exon            590..771
                     /gene="ZPLD1"
                     /inference="alignment:Splign:2.1.0"
     exon            772..844
                     /gene="ZPLD1"
                     /inference="alignment:Splign:2.1.0"
     exon            845..942
                     /gene="ZPLD1"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1023
                     /gene="ZPLD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1024..1195
                     /gene="ZPLD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1304
                     /gene="ZPLD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1334
                     /gene="ZPLD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1335..3733
                     /gene="ZPLD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1917..1922
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZPLD1"
                     /note="hexamer: AATAAA"
     polyA_site      1946
                     /gene="ZPLD1"
     regulatory      3710..3715
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZPLD1"
                     /note="hexamer: AATAAA"
     polyA_site      3733
                     /gene="ZPLD1"
                     /note="major polyA site"
ORIGIN      
        1 taaagggtgt taacataatc ccccaatccc atacaattca atttcagaaa agtatttagg
       61 gactgtgcta aaatagcatc tccaagcttg ctatggcaag atgatgctca ggttttccat
      121 gtgcagggga aatgatgaag gatacacctc tgtgttgggg acaacagtgt gggtctagag
      181 tttccaatgt cttccaggag ttcttgggac ccatcatgag aaggaagtgg tggagcatgg
      241 agcatggaat aaatgttttg caatggaaca aatatggttg ctgctgcttc taacaattag
      301 agtgcttccg gggtctgctc agttcaacgg ctacaactgt gatgccaacc tccacagtag
      361 atttcctgct gaaagagaca tcagtgtcta ttgtggagtg caggctatta cgatgaagat
      421 taatttttgc acggtacttt tctcgggtta ttcggaaaca gatctggcac tgaatggaag
      481 gcatggggac tcccactgca gagggttcat caataacaac acctttccag cagtggtcat
      541 ttttatcatc aatctcagca ccttggaggg ctgtggaaac aacctggtgg tatccacaat
      601 tcctggagtc agtgcttatg gaaatgcaac ttcagtgcaa gtaggaaata tttcaggata
      661 tattgatact ccagacccac caacaatcat cagctatcta cctgggcttc tttacaaatt
      721 tagttgtagt tatccattgg aatacctggt taataatacc cagcttgctt cgtcctcagc
      781 ggctatttct gtgagagaga acaatggcac atttgtcagc actttgaacc tgctccttta
      841 taacgattca acctacaacc agcagttaat tatccccagt ataggattac ctttgaaaac
      901 caaagtattt gcagctgtcc aagccactaa tttggatggc agatggaatg ttttaatgga
      961 ttattgctat actaccccat caggaaaccc aaatgatgac attcgatatg atcttttcct
     1021 tagctgtgac aaggaccctc agaccaccgt cattgagaat ggccgaagcc agcggggccg
     1081 gttttctttt gaagtgttcc gatttgtgaa acacaagaat cagaaaatgt ccactgtctt
     1141 cttgcactgc gttaccaagc tctgcagagc agatgactgc cccttcctta tgccgatttg
     1201 cagccacaga gaaaggagag atgctgggag gaggacgact tggagccccc agagctcttc
     1261 tggcagcgcg gtgctctctg ctggtcccat cattactcgg agtgatgaga ctccaaccaa
     1321 caattcgcaa cttggttctc caagtatgcc tcccttccag ctgaacgcca tcaccagcgc
     1381 actgatatca ggaatggtca ttctgggagt tacgagcttt tctcttcttc tgtgctcact
     1441 ggcccttctg cacaggaagg gacccacaag tttagtgttg aatggcataa gaaacccagt
     1501 ctttgactga ctataacaga ttcctgctct ctggagaagg cttcactgac taaactatgt
     1561 gtgactgcag tcagtgttcc gtctgaattt catgtcagtc cacattcaat atttgtaggt
     1621 ttgataaatt tcacagtata gcttgtcagc ataatgatag tgaaagaagt ttattatatt
     1681 gctattgtca cttatgtacg tggcgagccg tatttttatg ccaccagtga atatattgac
     1741 aataagtgaa aaatattcag gacttagggc ttacaggatc agtaatattt cattttattt
     1801 cagttttctt ttgattgttg gttaaaagat aaaaggtggg agtagacaaa aaatgaaatg
     1861 tgttgcattt cccccttaag cattaatggc atttagattt gcacacgtgg tcctagaata
     1921 aatgttgctt tttgttttaa tccggatatt cccagcttca ggatgtgttt taataggact
     1981 ggccaatttg gatacctgag atttaactac tcattctatg acctcctgtg tttttggccg
     2041 attttcatgt ctgaccatat tcattttaaa agaaactctt gggacatatc tcttaacctg
     2101 gggcaccctt ttgtgtagaa gatagtgaaa atagttgtta gcttccaagg ctactgctaa
     2161 gtggccctag atcattattc attagaatag gaatggctgc gatcagtttt cttcttctgg
     2221 ttcaggtgag aacaccagca catgttaact ctcctcccag gtaaacagtt cagctgctgt
     2281 tgcagctgtg cttccagcag tgaggtaact atgcaaagat tatttttaat tcaagaatca
     2341 tcacatgtga aaacaagctg tagttgtgaa aagagttcct agaagggttt ttaacaattt
     2401 agattccctt tttcctaaaa caaaaaggaa acttaggtta agtgtagttt gcagaacatt
     2461 gttggaatct acataaaaag atattccttc ccccatattt tcgatgccag gcaataatca
     2521 ggagagggtt tctttttaag gtatcttctt gtaggtgtca taattgccat gaataaacaa
     2581 tattttcctc taacagtaaa ctgcaagaag cttctgatcc tttatcagtt ttgcaaaaaa
     2641 gcaagcttta agcagcccat gttcttacaa aaaaaatcaa cattctcttt gtttaagcta
     2701 cctatgcact gaacaaacaa aacaatttaa tagccaacac caaaacccag catgtgaagt
     2761 tactagaatt gccatgttaa ctataagcaa ttgctgtaat cactaatttc tattcaacat
     2821 ttgtgaccca ttagtccgga cttaatttac tatactgcat gcaaatcatc aagcaattgc
     2881 ttcaaaggaa atgtctacaa tgtgagttaa taattaaatc aatcctcaag ttgaaaaaca
     2941 ctttttctcc aatttgcctg aatatttcag gaggaagtgt ttatattata ataattagct
     3001 atataattgc atcaactttt tatttcaagg tatagttgcc aagtaaagtg ggatctggaa
     3061 agtctctgga taatttcttt acaaaaaaag tttaaatcac ataaaaagcc aatctactct
     3121 tccctgtgtt actttaaaat aactttgaag tgactattct gagctttatc tgtgttaaca
     3181 tgattaactg accatactac taatgtgacc ctgtatatac atggatagta ttgaaatatg
     3241 ctggtaaatc tatttcagat actttaagtg aattgccatt gattctacga ttaagttctg
     3301 tgaataggac attatatcat ttaagctgtt ttgtcaattt gatttttatg cttttggaac
     3361 ggctgctgtt tcagctgttg gccttttcaa ttctatactc cattttatag aattgaataa
     3421 tggacacatg tcacttggga agcaacgtaa gtatcacatt attttttgcc accctttcat
     3481 cataaatgga agaatcagag ttataatgag ataaaccagg tctgtttttt acaactttgt
     3541 tcttataaat ctgcagttat atggagtatt tagttatact gaattttaca gttattatag
     3601 tgtgaaaaac cttacaaaat atgtgcaaat gtttcttcag ttttaatacc tcaaactgtt
     3661 ttttgcactt caggggtaag gtctgatgac atgtaaaaga tgatcgttta ataaaataat
     3721 tgtttaaaat gtt
//
