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2025-05-09 12:48:21, GGRNA : RefSeq release 60 (20130726)
LOCUS NR_045649 3564 bp RNA linear PRI 16-JUL-2013
DEFINITION Homo sapiens piwi-like RNA-mediated gene silencing 3 (PIWIL3),
transcript variant 4, non-coding RNA.
ACCESSION NR_045649
VERSION NR_045649.1 GI:364023799
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 3564)
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 3564)
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 3564)
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
AP000359.1, BC144693.1 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 (4) contains an alternate 5' exon
compared to variant 1. This variant is represented as non-coding
because the use of the 5'-most supported translational start codon,
as used in variant 1, renders the transcript a candidate for
nonsense-mediated mRNA decay (NMD).
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.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-243 AP000359.1 35288-35530
244-3348 BC144693.1 1-3105
3349-3564 AP000358.1 36354-36569 c
FEATURES Location/Qualifiers
source 1..3564
/organism="Homo sapiens"
/mol_type="transcribed RNA"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q11.23"
gene 1..3564
/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"
misc_RNA 1..3564
/gene="PIWIL3"
/gene_synonym="HIWI3"
/product="piwi-like RNA-mediated gene silencing 3,
transcript variant 4"
/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"
exon 400..523
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
misc_feature 422..532
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="COORDINATES:
alignment:Blast2seq::RefSeq|NM_001255975.1"
/note="primary ORF has stop codon >50 nucleotides from the
terminal splice site; nonsense-mediated decay (NMD)
candidate"
exon 524..606
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 607..727
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 728..859
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 860..1074
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 1075..1196
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 1197..1277
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 1278..1481
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 1482..1593
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 1594..1720
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
variation 1627
/gene="PIWIL3"
/gene_synonym="HIWI3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1475853"
exon 1721..1838
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
variation 1738
/gene="PIWIL3"
/gene_synonym="HIWI3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1892722"
variation 1756
/gene="PIWIL3"
/gene_synonym="HIWI3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1892723"
exon 1839..1953
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 1954..2138
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2139..2211
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2212..2409
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
variation 2242
/gene="PIWIL3"
/gene_synonym="HIWI3"
/replace="c"
/replace="t"
/db_xref="dbSNP:738826"
exon 2410..2513
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2514..2584
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2585..2735
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2736..2861
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2862..3009
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 3010..3564
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
ORIGIN
attttgctgcctcagcctcccgagtagctgggactacaggtgcccgccaccacgcccggctaattttttgtatttttagtagagatagggtttcactgtgttagccaggatggtctccatctcctgacctcatgatctacccgcctcagcctgccaaagtgctgggattacaggcgtgagccaccgcgcccggccaaagcggtttttaaagggaggatttggaaggcaaaagaggcagggggactgggaggtgtcaggtggtgtgaccccctccagtggcttgtcctgaattatttttccatctgtggaagtggccggcgtcatcatggctggaggaggtgcatggttcgtatcaggatctgactactgaagcttctaaggaaatatgtgaccagataaggtcatcaccttcaggaccacaatgcctggtagggcaaggactcgcgcccgaggcagagcccgccgcagggagagctaccaacaagaggcacctgggggacccagagcacctggatcagctacagatccatagtggcgctgcggggccccatctgacaacctccagggggaccatatactgcatggaagtagcacgatgccttccagacccaggagccccctcagttgcagtcgacaccccggccgctgcaggaggaagtcccagtggttagacctctgcagccaagagcagcaagaggaggagcaggaggaggagcacagtctcaaggggtgaaggaacctggacctgaggctgggttgcatacagcgcccttgcaggagagaaggattggtggagtttttcaagacctggtggtgaacaccaggcaagatatgaagcatgttaaagactcaaaaacaggttcagagggtacagtggtacagctactcgccaaccacttccgagtgatatctcgtcctcagtgggttgcatataaatacaacgttgactacaaaccagacatagaagatggaaatctccgtacaattttacttgatcaacatagaaggaaatttggagagcgccatatatttgatggaaactctttattattatctcggccactaaaagagcggagagtggaatggttgagcacaaccaaagacaaaaacatcgtgaagattacagttgagttttccaaagaactcacgcccacgtcgccagattgcctacgctattacaacattctctttagaagaactttcaagctgctggattttgaacaagttggtcgcaactattataccaaaaagaaggccattcagttataccgtcatggtaccagtttggaaatctggcttggttatgttacttctgttcttcaatacgaaaacagcattaccctctgtgccgatgtgagccacaaactgctccgaatagaaactgcttatgatttcataaagagaacatctgcccaggcccagacaggaaacatccgagaggaagtaactaataaattaattggatcaattgttctgacaaaatacaacaacaaaacctacagagtagatgatattgattggaagcagaatcctgaagacacatttaacaaatcagatggcagcaaaatcacctatatagactactacaggcagcaacataaagaaattgtcacagtgaagaaacagccacttttggtcagccagggcagatggaaaaagggcctaacgggtacacaacgtgaacctatcctgctgattcctcagctgtgccacatgacaggtctaacagatgaaatacgtaaagattatagcattatgaaagaattggctaaacatacaagattgagtccaagaagaaggcatcatacattaaaagaattcatcaatactctacaagataataaaaaagtacgagagttacttcaactctgggatttgaaatttgataccaattttttgtccgtcccgggaagaattttgaaaaacgcaaacatcgtgcaaggcagaagaatggttaaagccaattcacaaggagactggtcaagagaaataagagaattacccttacttaatgcaatgccactacatagttggctcatactctatagcaggagcagtcacagagaagccatgtccttaaagggtcatctacagagtgtcacagcccccatgggcataactatgaaaccagcagaaatgattgaagtagatggtgatgctaactcctatatagacacattacggaaatatactagaccaacactgcagatggtgatttgtatcctgcccaatgatgacaaacgtagatatgacagcataaaaagatacctatgtaccaaatgcccaattccaagccagtgtgtggtgaaaaagaccttagaaaaagtccaggcaaggaccatcgtcaccaagattgcccagcagatgaattgcaagatgggaggagccctctggaaggtggagacagacgtacaaagaacaatgttcgttggcattgattgtttccacgatatcgtaaatcgacagaaatcaatagcaggatttgttgcaagtaccaatgctgaattaacaaagtggtactctcaatgtgtcatccagaaaacaggagaagagcttgtgaaagagctggagatctgcttgaaagctgccctggatgtctggtgtaaaaacgaatcatcgatgccacattctgttattgtgtatcgggatggagtgggagatggtcagcttcaagcattgcttgaccatgaagcgaaaaagatgtcgacctacttaaaaaccatctctcctaacaatttcactctagctttcattgtggtgaagaaacgaataaacactagattttttcttaaacatggaagcaattttcaaaatccacctccaggaacagttattgatgtagagttgactaggaatgaatggtatgacttttttattgtgagtcagtctgtgcaagatgggactgttacccccactcattataacgtcatctatgacacgattggcttgagcccagatacagtacagcgtttaacatattgtctatgccacatgtattataatttgccaggcatcatccgagttccagcgccttgccactatgcccacaagctggcttacctcgtggggcagtccattcaccaggaaccgaatcgttccttgtcaactcgtctcttttacctttgacctgcagaagaagacctgatgtgctaatgaaaccacaacgtgtaagcctgtcttccttttgaagcaggatgtctgaaatattttcctaggtccatagcattaaattctcatcgtttttgattggacacaggagagattcagagtgatatgttctactctcaatactaccacagactgatttttccagagaggagaactgacagggtttggcttgcagtttccctttcaaatatgtgacagagatctcacagctgaacgtgactgaacattttccaccccaagcagggccactctaagaattgaaaagatggggcattcgtcacagagagagtacatctgtgaacaagtaaactctacttggaaaactacgtttactttatttttgaaacttttttttgttaaaggacaggaaaggaagacataaaagtaacaacactg
//
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
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@meso_cacase at
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