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2024-03-28 18:10:24, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001255975            3481 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens piwi-like RNA-mediated gene silencing 3 (PIWIL3),
            transcript variant 2, mRNA.
ACCESSION   NM_001255975
VERSION     NM_001255975.1  GI:364023795
KEYWORDS    RefSeq.
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 3481)
  AUTHORS   Gu,A., Ji,G., Shi,X., Long,Y., Xia,Y., Song,L., Wang,S. and Wang,X.
  TITLE     Genetic variants in Piwi-interacting RNA pathway genes confer
            susceptibility to spermatogenic failure in a Chinese population
  JOURNAL   Hum. Reprod. 25 (12), 2955-2961 (2010)
   PUBMED   20940137
  REMARK    GeneRIF: individuals with HIWI3 non-synonymous rs11703684 variant
            genotypes exhibited a significantly reduced oligozoospermia risk
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 3481)
  AUTHORS   Wang,X.L., Chen,X.M., Gao,H.J. and Huang,Z.G.
  TITLE     [Preparation and distribution of polyclonal antibodies against
            human PIWIL3 protein in tumor tissues]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 24 (7), 714-716 (2008)
   PUBMED   18616918
  REMARK    GeneRIF: PIWIL3 proteins were expressed in the cytoplasma of human
            astrocytic glioma and meningioma.
REFERENCE   3  (bases 1 to 3481)
  AUTHORS   Sasaki,T., Shiohama,A., Minoshima,S. and Shimizu,N.
  TITLE     Identification of eight members of the Argonaute family in the
            human genome small star, filled
  JOURNAL   Genomics 82 (3), 323-330 (2003)
   PUBMED   12906857
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK302409.1, AP000359.1 and AP000358.1.
            
            Summary: This gene encodes a member of the PIWI subfamily of
            Argonaute family proteins. This subfamily of proteins contains a
            PAZ domain, found in proteins involved in RNA-mediated gene
            silencing, and a C-terminal Piwi domain. The encoded protein is
            thought to function in maintenance of germline cells. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            compared to variant 1. The resulting protein (isoform 2) is shorter
            compared to isoform 1.
            
            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 :: AK302409.1, AK315806.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025085 [ECO:0000350]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1041              AK302409.1         1-1041
            1042-1042           AP000359.1         54153-54153
            1043-1672           AK302409.1         1043-1672
            1673-1673           AP000359.1         60522-60522
            1674-3308           AK302409.1         1674-3308
            3309-3481           AP000358.1         36354-36526         c
FEATURES             Location/Qualifiers
     source          1..3481
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..3481
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /note="piwi-like RNA-mediated gene silencing 3"
                     /db_xref="GeneID:440822"
                     /db_xref="HGNC:18443"
                     /db_xref="MIM:610314"
     exon            1..399
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    389..391
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /note="upstream in-frame stop codon"
     exon            400..523
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     CDS             422..3043
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /note="isoform 2 is encoded by transcript variant 2;
                     piwi-like protein 3; piwi-like 3"
                     /codon_start=1
                     /product="piwi-like protein 3 isoform 2"
                     /protein_id="NP_001242904.1"
                     /db_xref="GI:364023796"
                     /db_xref="GeneID:440822"
                     /db_xref="HGNC:18443"
                     /db_xref="MIM:610314"
                     /translation="
MPGRARTRARGRARRRESYQQEAPGGPRAPGSATTQEPPQLQSTPRPLQEEVPVVRPLQPRAARGGAGGGAQSQGVKEPGPEAGLHTAPLQERRIGGVFQDLVVNTRQDMKHVKDSKTGSEGTVVQLLANHFRVISRPQWVAYKYNVDYKPDIEDGNLRTILLDQHRRKFGERHIFDGNSLLLSRPLKERRVEWLSTTKDKNIVKITVEFSKELTPTSPDCLRYYNILFRRTFKLLDFEQVGRNYYTKKKAIQLYRHGTSLEIWLGYVTSVLQYENSITLCADVSHKLLRIETAYDFIKRTSAQAQTGNIREEVTNKLIGSIVLTKYNNKTYRVDDIDWKQNPEDTFNKSDGSKITYIDYYRQQHKEIVTVKKQPLLVSQGRWKKGLTGTQREPILLIPQLCHMTGLTDEICKDYSIVKELAKHTRLSPRRRHHTLKEFINTLQDNKKVRELLQLWDLKFDTNFLSVPGRVLKNANIVQGRRMVKANSQGDWSREIRELPLLNAMPLHSWLILYSRSSHREAMSLKGHLQSVTAPMGITMKPAEMIEVDGDANSYIDTLRKYTRPTLQMVICILPNDDKRRYDSIKRYLCTKCPIPSQCVVKKTLEKVQARTIVTKIAQQMNCKMGGALWKVETDVQRTMFVGIDCFHDIVNRQKSIAGFVASTNAELTKWYSQCVIQKTGEELVKELEICLKAALDVWCKNESSMPHSVIVYRDGVGDGQLQALLDHEAKKMSTYLKTISPNNFTLAFIVVKKRINTRFFLKHGSNFQNPPPGTVIDVELTRNEWYDFFIVSQSVQDGTVTPTHYNVIYDTIGLSPDTVQRLTYCLCHMYYNLPGIIRVPAPCHYAHKLAYLVGQSIHQEPNRSLSTRLFYL
"
     misc_feature    1253..1645
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /note="PAZ domain,  Piwi_like subfamily. In multi-cellular
                     organisms, the Piwi protein appears to be essential for
                     the maintenance of germline stem cells. In the Drosophila
                     male germline, Piwi was shown to be involved in the
                     silencing of retrotransposons in the...; Region:
                     PAZ_piwi_like; cd02845"
                     /db_xref="CDD:30330"
     misc_feature    order(1427..1429,1466..1468,1490..1492,1502..1504,
                     1556..1558,1604..1606,1610..1612)
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /note="nucleic acid-binding interface [nucleotide
                     binding]; other site"
                     /db_xref="CDD:30330"
     misc_feature    1667..2989
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /note="Piwi_piwi-like_Euk: PIWI domain, Piwi-like
                     subfamily found in eukaryotes. This domain is found in
                     Piwi and closely related proteins, where it is believed to
                     perform a crucial role in germline cells, via RNA
                     silencing. RNA silencing refers to a group of...; Region:
                     Piwi_piwi-like_Euk; cd04658"
                     /db_xref="CDD:72943"
     misc_feature    order(2165..2167,2177..2179,2213..2224,2231..2233,
                     2258..2260,2267..2269,2279..2281,2291..2293)
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /note="5' RNA guide strand anchoring site; other site"
                     /db_xref="CDD:72943"
     misc_feature    order(2354..2356,2360..2362,2564..2566,2963..2965)
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /note="active site"
                     /db_xref="CDD:72943"
     exon            524..644
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            645..776
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            777..991
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            992..1113
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            1114..1194
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            1195..1398
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            1399..1510
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            1511..1637
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     variation       1544
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1475853"
     exon            1638..1755
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     variation       1655
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1892722"
     variation       1673
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1892723"
     exon            1756..1870
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            1871..2055
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            2056..2128
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            2129..2326
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     variation       2159
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:738826"
     exon            2327..2430
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            2431..2501
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            2502..2652
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            2653..2778
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            2779..2926
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
     exon            2927..3481
                     /gene="PIWIL3"
                     /gene_synonym="HIWI3"
                     /inference="alignment:Splign:1.39.8"
ORIGIN      
attttgctgcctcagcctcccgagtagctgggactacaggtgcccgccaccacgcccggctaattttttgtatttttagtagagatagggtttcactgtgttagccaggatggtctccatctcctgacctcatgatctacccgcctcagcctgccaaagtgctgggattacaggcgtgagccaccgcgcccggccaaagcggtttttaaagggaggatttggaaggcaaaagaggcagggggactgggaggtgtcaggtggtgtgaccccctccagtggcttgtcctgaattatttttccatctgtggaagtggccggcgtcatcatggctggaggaggtgcatggttcgtatcaggatctgactactgaagcttctaaggaaatatgtgaccagataaggtcatcaccttcaggaccacaatgcctggtagggcaaggactcgcgcccgaggcagagcccgccgcagggagagctaccaacaagaggcacctgggggacccagagcacctggatcagctacaacccaggagccccctcagttgcagtcgacaccccggccgctgcaggaggaagtcccagtggttagacctctgcagccaagagcagcaagaggaggagcaggaggaggagcacagtctcaaggggtgaaggaacctggacctgaggctgggttgcatacagcgcccttgcaggagagaaggattggtggagtttttcaagacctggtggtgaacaccaggcaagatatgaagcatgttaaagactcaaaaacaggttcagagggtacagtggtacagctactcgccaaccacttccgagtgatatctcgtcctcagtgggttgcatataaatacaacgttgactacaaaccagacatagaagatggaaatctccgtacaattttacttgatcaacatagaaggaaatttggagagcgccatatatttgatggaaactctttattattatctcggccactaaaagagcggagagtggaatggttgagcacaaccaaagacaaaaacatcgtgaagattacagttgagttttccaaagaactcacgcccacgtcgccagattgcctacgctattacaacattctctttagaagaactttcaagctgctggattttgaacaagttggtcgcaactattataccaaaaagaaggccattcagttataccgtcatggtaccagtttggaaatctggcttggttatgttacttctgttcttcaatacgaaaacagcattaccctctgtgccgatgtgagccacaaactgctccgaatagaaactgcttatgatttcataaagagaacatctgcccaggcccagacaggaaacatccgagaggaagtaactaataaattaattggatcaattgttctgacaaaatacaacaacaaaacctacagagtagatgatattgattggaagcagaatcctgaagacacatttaacaaatcagatggcagcaaaatcacctatatagactactacaggcagcaacataaagaaattgtcacagtgaagaaacagccacttttggtcagccagggcagatggaaaaagggcctaacgggtacacaacgtgaacctatcctgctgattcctcagctgtgccacatgacaggtctaacagatgaaatatgtaaagattatagcattgtgaaagaattggctaaacatacaagattgagtccaagaagaaggcatcatacattaaaagaattcatcaatactctacaagataataaaaaagtacgagagttacttcaactctgggatttgaaatttgataccaattttttgtccgtcccgggaagagttttgaaaaacgcaaacatcgtgcaaggcagaagaatggttaaagccaattcacaaggagactggtcaagagaaataagagaattacccttacttaatgcaatgccactacatagttggctcatactctatagcaggagcagtcacagagaagccatgtccttaaagggtcatctacagagtgtcacagcccccatgggcataactatgaaaccagcagaaatgattgaagtagatggtgatgctaactcctatatagacacattacggaaatatactagaccaacactgcagatggtgatttgtatcctgcccaatgatgacaaacgtagatatgacagcataaaaagatacctatgtaccaaatgcccaattccaagccagtgtgtggtgaaaaagaccttagaaaaagtccaggcaaggaccatcgtcaccaagattgcccagcagatgaattgcaagatgggaggagccctctggaaggtggagacagacgtacaaagaacaatgttcgttggcattgattgtttccacgatatcgtaaatcgacagaaatcaatagcaggatttgttgcaagtaccaatgctgaattaacaaagtggtactctcaatgtgtcatccagaaaacaggagaagagcttgtgaaagagctggagatctgcttgaaagctgccctggatgtctggtgtaaaaacgaatcatcgatgccacattctgttattgtgtatcgggatggagtgggagatggtcagcttcaagcattgcttgaccatgaagcgaaaaagatgtcgacctacttaaaaaccatctctcctaacaatttcactctagctttcattgtggtgaagaaacgaataaacactagattttttcttaaacatggaagcaattttcaaaatccacctccaggaacagttattgatgtagagttgactaggaatgaatggtatgacttttttattgtgagtcagtctgtgcaagatgggactgttacccccactcattataacgtcatctatgacacgattggcttgagcccagatacagtacagcgtttaacatattgtctatgccacatgtattataatttgccaggcatcatccgagttccagcgccttgccactatgcccacaagctggcttacctcgtggggcagtccattcaccaggaaccgaatcgttccttgtcaactcgtctcttttacctttgacctgcagaagaagacctgatgtgctaatgaaaccacaacgtgtaagcctgtcttccttttgaagcaggatgtctgaaatattttcctaggtccatagcattaaattctcatcgtttttgattggacacaggagagattcagagtgatatgttctactctcaatactaccacagactgatttttccagagaggagaactgacagggtttggcttgcagtttccctttcaaatatgtgacagagatctcacagctgaacgtgactgaacattttccaccccaagcagggccactctaagaattgaaaagatggggcattcgtcacagagagagtacatctgtgaacaagtaaactctacttggaaaactacgtttactttatttttgaaacttttttttgttaaaggacaggaaaggaagacataaaagtaacaacactg
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:440822 -> Molecular function: GO:0003723 [RNA binding] evidence: IEA
            GeneID:440822 -> Biological process: GO:0006417 [regulation of translation] evidence: IEA
            GeneID:440822 -> Biological process: GO:0007126 [meiosis] evidence: IEA
            GeneID:440822 -> Biological process: GO:0007275 [multicellular organismal development] evidence: IEA
            GeneID:440822 -> Biological process: GO:0007283 [spermatogenesis] evidence: IEA
            GeneID:440822 -> Biological process: GO:0030154 [cell differentiation] evidence: IEA
            GeneID:440822 -> Biological process: GO:0031047 [gene silencing by RNA] evidence: IEA
            GeneID:440822 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA

by @meso_cacase at DBCLS
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