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2024-04-24 07:58:55, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001008496 3508 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens piwi-like RNA-mediated gene silencing 3 (PIWIL3),
transcript variant 1, mRNA.
ACCESSION NM_001008496 XM_496521
VERSION NM_001008496.3 GI:364023794
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 3508)
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 3508)
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 3508)
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 and AB079368.1.
On Dec 20, 2011 this sequence version replaced gi:153792297.
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 (1) represents the longest
transcript and encodes the longer protein (isoform 1).
##Evidence-Data-START##
Transcript exon combination :: AB079368.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025085 [ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-4 AP000359.1 35288-35291
5-1637 AB079368.1 1-1633
1638-1755 AP000359.1 60487-60604
1756-3508 AB079368.1 1752-3504
FEATURES Location/Qualifiers
source 1..3508
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q11.23"
gene 1..3508
/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..3070
/gene="PIWIL3"
/gene_synonym="HIWI3"
/note="isoform 1 is encoded by transcript variant 1;
piwi-like protein 3; piwi-like 3"
/codon_start=1
/product="piwi-like protein 3 isoform 1"
/protein_id="NP_001008496.2"
/db_xref="GI:153792298"
/db_xref="CCDS:CCDS33623.1"
/db_xref="GeneID:440822"
/db_xref="HGNC:18443"
/db_xref="MIM:610314"
/translation="
MPGRARTRARGRARRRESYQQEAPGGPRAPGSATTQEPPQLQSTPRPLQEEVPVVRPLQPRAARGGAGGGAQSQGVKEPGPEAGLHTAPLQERRIGGVFQDLVVNTRQDMKHVKDSKTGSEGTVVQLLANHFRVISRPQWVAYKYNVDYKPDIEDGNLRTILLDQHRRKFGERHIFDGNSLLLSRPLKERRVEWLSTTKDKNIVKITVEFSKELTPTSPDCLRYYNILFRRTFKLLDFEQVGRNYYTKKKAIQLYRHGTSLEIWLGYVTSVLQYENSITLCADVSHKLLRIETAYDFIKRTSAQAQTGNIREEVTNKLIGSIVLTKYNNKTYRVDDIDWKQNPEDTFNKSDGSKITYIDYYRQQHKEIVTVKKQPLLVSQGRWKKGLTGTQREPILLIPQLCHMTGLTDEICKDYSIVKELAKHTRLSPRRRHHTLKEFINTLQDNKKVRELLQLWDLKFDTNFLSVPGRVLKNANIVQGRRMVKANSQGDWSREIRELPLLNAMPLHSWLILYSRSSHREAMSLKGHLQSVTAPMGITMKPAEMIEVDGDANSYIDTLRKYTRPTLQMGMSCLLVFKVICILPNDDKRRYDSIKRYLCTKCPIPSQCVVKKTLEKVQARTIVTKIAQQMNCKMGGALWKVETDVQRTMFVGIDCFHDIVNRQKSIAGFVASTNAELTKWYSQCVIQKTGEELVKELEICLKAALDVWCKNESSMPHSVIVYRDGVGDGQLQALLDHEAKKMSTYLKTISPNNFTLAFIVVKKRINTRFFLKHGSNFQNPPPGTVIDVELTRNEWYDFFIVSQSVQDGTVTPTHYNVIYDTIGLSPDTVQRLTYCLCHMYYNLPGIIRVPAPCHYAHKLAYLVGQSIHQEPNRSLSTRLFYL
"
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..3016
/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(2192..2194,2204..2206,2240..2251,2258..2260,
2285..2287,2294..2296,2306..2308,2318..2320)
/gene="PIWIL3"
/gene_synonym="HIWI3"
/note="5' RNA guide strand anchoring site; other site"
/db_xref="CDD:72943"
misc_feature order(2381..2383,2387..2389,2591..2593,2990..2992)
/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..2353
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
variation 2186
/gene="PIWIL3"
/gene_synonym="HIWI3"
/replace="c"
/replace="t"
/db_xref="dbSNP:738826"
exon 2354..2457
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2458..2528
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2529..2679
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2680..2805
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2806..2953
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
exon 2954..3508
/gene="PIWIL3"
/gene_synonym="HIWI3"
/inference="alignment:Splign:1.39.8"
ORIGIN
attttgctgcctcagcctcccgagtagctgggactacaggtgcccgccaccacgcccggctaattttttgtatttttagtagagatagggtttcactgtgttagccaggatggtctccatctcctgacctcatgatctacccgcctcagcctgccaaagtgctgggattacaggcgtgagccaccgcgcccggccaaagcggtttttaaagggaggatttggaaggcaaaagaggcagggggactgggaggtgtcaggtggtgtgaccccctccagtggcttgtcctgaattatttttccatctgtggaagtggccggcgtcatcatggctggaggaggtgcatggttcgtatcaggatctgactactgaagcttctaaggaaatatgtgaccagataaggtcatcaccttcaggaccacaatgcctggtagggcaaggactcgcgcccgaggcagagcccgccgcagggagagctaccaacaagaggcacctgggggacccagagcacctggatcagctacaacccaggagccccctcagttgcagtcgacaccccggccgctgcaggaggaagtcccagtggttagacctctgcagccaagagcagcaagaggaggagcaggaggaggagcacagtctcaaggggtgaaggaacctggacctgaggctgggttgcatacagcgcccttgcaggagagaaggattggtggagtttttcaagacctggtggtgaacaccaggcaagatatgaagcatgttaaagactcaaaaacaggttcagagggtacagtggtacagctactcgccaaccacttccgagtgatatctcgtcctcagtgggttgcatataaatacaacgttgactacaaaccagacatagaagatggaaatctccgtacaattttacttgatcaacatagaaggaaatttggagagcgccatatatttgatggaaactctttattattatctcggccactaaaagagcggagagtggaatggttgagcacaaccaaagacaaaaacatcgtgaagattacagttgagttttccaaagaactcacgcccacgtcgccagattgcctacgctattacaacattctctttagaagaactttcaagctgctggattttgaacaagttggtcgcaactattataccaaaaagaaggccattcagttataccgtcatggtaccagtttggaaatctggcttggttatgttacttctgttcttcaatacgaaaacagcattaccctctgtgccgatgtgagccacaaactgctccgaatagaaactgcttatgatttcataaagagaacatctgcccaggcccagacaggaaacatccgagaggaagtaactaataaattaattggatcaattgttctgacaaaatacaacaacaaaacctacagagtagatgatattgattggaagcagaatcctgaagacacatttaacaaatcagatggcagcaaaatcacctatatagactactacaggcagcaacataaagaaattgtcacagtgaagaaacagccacttttggtcagccagggcagatggaaaaagggcctaacgggtacacaacgtgaacctatcctgctgattcctcagctgtgccacatgacaggtctaacagatgaaatatgtaaagattatagcattgtgaaagaattggctaaacatacaagattgagtccaagaagaaggcatcatacattaaaagaattcatcaatactctacaagataataaaaaagtacgagagttacttcaactctgggatttgaaatttgataccaattttttgtccgtcccgggaagagttttgaaaaacgcaaacatcgtgcaaggcagaagaatggttaaagccaattcacaaggagactggtcaagagaaataagagaattacccttacttaatgcaatgccactacatagttggctcatactctatagcaggagcagtcacagagaagccatgtccttaaagggtcatctacagagtgtcacagcccccatgggcataactatgaaaccagcagaaatgattgaagtagatggtgatgctaactcctatatagacacattacggaaatatactagaccaacactgcagatgggaatgtcatgtttgctggttttcaaggtgatttgtatcctgcccaatgatgacaaacgtagatatgacagcataaaaagatacctatgtaccaaatgcccaattccaagccagtgtgtggtgaaaaagaccttagaaaaagtccaggcaaggaccatcgtcaccaagattgcccagcagatgaattgcaagatgggaggagccctctggaaggtggagacagacgtacaaagaacaatgttcgttggcattgattgtttccacgatatcgtaaatcgacagaaatcaatagcaggatttgttgcaagtaccaatgctgaattaacaaagtggtactctcaatgtgtcatccagaaaacaggagaagagcttgtgaaagagctggagatctgcttgaaagctgccctggatgtctggtgtaaaaacgaatcatcgatgccacattctgttattgtgtatcgggatggagtgggagatggtcagcttcaagcattgcttgaccatgaagcgaaaaagatgtcgacctacttaaaaaccatctctcctaacaatttcactctagctttcattgtggtgaagaaacgaataaacactagattttttcttaaacatggaagcaattttcaaaatccacctccaggaacagttattgatgtagagttgactaggaatgaatggtatgacttttttattgtgagtcagtctgtgcaagatgggactgttacccccactcattataacgtcatctatgacacgattggcttgagcccagatacagtacagcgtttaacatattgtctatgccacatgtattataatttgccaggcatcatccgagttccagcgccttgccactatgcccacaagctggcttacctcgtggggcagtccattcaccaggaaccgaatcgttccttgtcaactcgtctcttttacctttgacctgcagaagaagacctgatgtgctaatgaaaccacaacgtgtaagcctgtcttccttttgaagcaggatgtctgaaatattttcctaggtccatagcattaaattctcatcgtttttgattggacacaggagagattcagagtgatatgttctactctcaatactaccacagactgatttttccagagaggagaactgacagggtttggcttgcagtttccctttcaaatatgtgacagagatctcacagctgaacgtgactgaacattttccaccccaagcagggccactctaagaattgaaaagatggggcattcgtcacagagagagtacatctgtgaacaagtaaactctacttggaaaactacgtttactttatttttgaaacttttttttgttaaaggacaggaaaggaagacataaaagtaacaacactg
//
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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