Home |
Help |
Advanced search
2025-05-09 12:10:06, GGRNA : RefSeq release 60 (20130726)
LOCUS NR_045648 3691 bp RNA linear PRI 16-JUL-2013
DEFINITION Homo sapiens piwi-like RNA-mediated gene silencing 3 (PIWIL3),
transcript variant 3, non-coding RNA.
ACCESSION NR_045648
VERSION NR_045648.1 GI:364023798
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 3691)
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 3691)
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 3691)
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, BC144696.1 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 (3) contains an alternate 5' exon
and uses an alternate splice site in an internal 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
244-429 BC144696.1 1-186
430-501 AP000359.1 40249-40320
502-1864 BC144696.1 259-1621
1865-1883 AP000359.1 60504-60522
1884-2041 BC144696.1 1641-1798
2042-2042 AP000359.1 61063-61063
2043-3475 BC144696.1 1800-3232
3476-3691 AP000358.1 36354-36569 c
FEATURES Location/Qualifiers
source 1..3691
/organism="Homo sapiens"
/mol_type="transcribed RNA"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q11.23"
gene 1..3691
/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..3691
/gene="PIWIL3"
/gene_synonym="HIWI3"
/product="piwi-like RNA-mediated gene silencing 3,
transcript variant 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"
exon 400..518
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 519..733
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
misc_feature 541..705
/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 734..854
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 855..986
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 987..1201
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 1202..1323
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 1324..1404
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 1405..1608
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 1609..1720
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 1721..1847
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
variation 1754
/gene="PIWIL3"
/gene_synonym="HIWI3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1475853"
exon 1848..1965
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
variation 1865
/gene="PIWIL3"
/gene_synonym="HIWI3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1892722"
variation 1883
/gene="PIWIL3"
/gene_synonym="HIWI3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1892723"
exon 1966..2080
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2081..2265
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2266..2338
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2339..2536
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
variation 2369
/gene="PIWIL3"
/gene_synonym="HIWI3"
/replace="c"
/replace="t"
/db_xref="dbSNP:738826"
exon 2537..2640
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2641..2711
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2712..2862
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2863..2988
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2989..3136
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 3137..3691
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
ORIGIN
attttgctgcctcagcctcccgagtagctgggactacaggtgcccgccaccacgcccggctaattttttgtatttttagtagagatagggtttcactgtgttagccaggatggtctccatctcctgacctcatgatctacccgcctcagcctgccaaagtgctgggattacaggcgtgagccaccgcgcccggccaaagcggtttttaaagggaggatttggaaggcaaaagaggcagggggactgggaggtgtcaggtggtgtgaccccctccagtggcttgtcctgaattatttttccatctgtggaagtggccggcgtcatcatggctggaggaggtgcatggttcgtatcaggatctgactactgaagcttctaaggaaatatgtgaccagataaagttttgccgttgttgcccaggccagagtgcggtggcacaatctcgactcactgcaacctctctctccaggattcaagcgattcttctgcctcagcctcccaagtagctgggattacagggtcatcaccttcaggaccacaatgcctggtagggcaaggactcgcgcccgaggcagagcccgccgcagggagagctaccaacaagaggcacctgggggacccagagcacctggatcagctacagtgagccctgtaacgttgtttcctttctgcaagagatatgtgcctgtactgaaaagaacatagagttggttgttgagcgaagctagttcagacccaggagccccctcagttgcagtcgacaccccggccgctgcaggaggaagtcccagtggttagacctctgcagccaagagcagcaagaggaggagcaggaggaggagcacagtctcaaggggtgaaggaacctggacctgaggctgggttgcatacagcgcccttgcaggagagaaggattggtggagtttttcaagacctggtggtgaacaccaggcaagatatgaagcatgttaaagactcaaaaacaggttcagagggtacagtggtacagctactcgccaaccacttccgagtgatatctcgtcctcagtgggttgcatataaatacaacgttgactacaaaccagacatagaagatggaaatctccgtacaattttacttgatcaacatagaaggaaatttggagagcgccatatatttgatggaaactctttattattatctcggccactaaaagagcggagagtggaatggttgagcacaaccaaagacaaaaacatcgtgaagattacagttgagttttccaaagaactcacgcccacgtcgccagattgcctacgctattacaacattctctttagaagaactttcaagctgctggattttgaacaagttggtcgcaactattataccaaaaagaaggccattcagttataccgtcatggtaccagtttggaaatctggcttggttatgttacttctgttcttcaatacgaaaacagcattaccctctgtgccgatgtgagccacaaactgctccgaatagaaactgcttatgatttcataaagagaacatctgcccaggcccagacaggaaacatccgagaggaagtaactaataaattaattggatcaattgttctgacaaaatacaacaacaaaacctacagagtagatgatattgattggaagcagaatcctgaagacacatttaacaaatcagatggcagcaaaatcacctatatagactactacaggcagcaacataaagaaattgtcacagtgaagaaacagccacttttggtcagccagggcagatggaaaaagggcctaacgggtacacaacgtgaacctatcctgctgattcctcagctgtgccacatgacaggtctaacagatgaaatatgtaaagattatagcattgtgaaagaattggctaaacatacaagattgagtccaagaagaaggcatcatacattaaaagaattcatcaatactctacaagataataaaaaagtacgagagttacttcaactctgggatttgaaatttgataccaattttttgtccgtcccgggaagagttttgaaaaacgcaaacatcgtgcaaggcagaagaatggttaaagccaattcacaaggagactggtcaagagaaataagagaattacccttacttaatgcaatgccactacatagttggctcatactctatagcaggagcagtcacagagaagccatgtccttaaagggtcatctacagagtgtcacagcccccatgggcataactatgaaaccagcagaaatgattgaagtagatggtgatgctaactcctatatagacacattacggaaatatactagaccaacactgcagatggtgatttgtatcctgcccaatgatgacaaacgtagatatgacagcataaaaagatacctatgtaccaaatgcccaattccaagccagtgtgtggtgaaaaagaccttagaaaaagtccaggcaaggaccatcgtcaccaagattgcccagcagatgaattgcaagatgggaggagccctctggaaggtggagacagacgtacaaagaacaatgttcgttggcattgattgtttccacgatatcgtaaatcgacagaaatcaatagcaggatttgttgcaagtaccaatgctgaattaacaaagtggtactctcaatgtgtcatccagaaaacaggagaagagcttgtgaaagagctggagatctgcttgaaagctgccctggatgtctggtgtaaaaacgaatcatcgatgccacattctgttattgtgtatcgggatggagtgggagatggtcagcttcaagcattgcttgaccatgaagcgaaaaagatgtcgacctacttaaaaaccatctctcctaacaatttcactctagctttcattgtggtgaagaaacgaataaacactagattttttcttaaacatggaagcaattttcaaaatccacctccaggaacagttattgatgtagagttgactaggaatgaatggtatgacttttttattgtgagtcagtctgtgcaagatgggactgttacccccactcattataacgtcatctatgacacgattggcttgagcccagatacagtacagcgtttaacatattgtctatgccacatgtattataatttgccaggcatcatccgagttccagcgccttgccactatgcccacaagctggcttacctcgtggggcagtccattcaccaggaaccgaatcgttccttgtcaactcgtctcttttacctttgacctgcagaagaagacctgatgtgctaatgaaaccacaacgtgtaagcctgtcttccttttgaagcaggatgtctgaaatattttcctaggtccatagcattaaattctcatcgtttttgattggacacaggagagattcagagtgatatgttctactctcaatactaccacagactgatttttccagagaggagaactgacagggtttggcttgcagtttccctttcaaatatgtgacagagatctcacagctgaacgtgactgaacattttccaccccaagcagggccactctaagaattgaaaagatggggcattcgtcacagagagagtacatctgtgaacaagtaaactctacttggaaaactacgtttactttatttttgaaacttttttttgttaaaggacaggaaaggaagacataaaagtaacaacactg
//
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
This page is licensed under a Creative Commons Attribution 2.1 Japan License.