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    PIWIL4 piwi like RNA-mediated gene silencing 4 [ Homo sapiens (human) ]

    Gene ID: 143689, updated on 27-Nov-2024

    Summary

    Official Symbol
    PIWIL4provided by HGNC
    Official Full Name
    piwi like RNA-mediated gene silencing 4provided by HGNC
    Primary source
    HGNC:HGNC:18444
    See related
    Ensembl:ENSG00000134627 MIM:610315; AllianceGenome:HGNC:18444
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HIWI2; MIWI2
    Summary
    PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in bone marrow (RPKM 9.2), testis (RPKM 8.7) and 19 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PIWIL4 in Genome Data Viewer
    Location:
    11q21
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (94567368..94621421)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (94574415..94628468)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (94300534..94354587)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94245285-94245803 Neighboring gene chromosome 11 open reading frame 97 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:94278664-94279338 Neighboring gene PIWIL4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94300071-94300572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94300573-94301072 Neighboring gene fucosyltransferase 4 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:94317056-94318255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5405 Neighboring gene MPRA-validated peak1402 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94373181-94373680 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:94379786-94380519 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:94382939-94383514 Neighboring gene long intergenic non-protein coding RNA 2700 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:94389595-94390531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94404975-94405474 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:94439150-94440349 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:94467520-94468192 Neighboring gene angiomotin like 1 Neighboring gene Sharpr-MPRA regulatory region 14517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94522022-94522522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94522523-94523023 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94609589-94610100

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ36156, DKFZp686P01248

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT enables RNA endonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables piRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables piRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables piRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial structure maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in piRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulatory ncRNA-mediated gene silencing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in secondary piRNA processing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_positive_effect transposable element silencing by heterochromatin formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transposable element silencing by piRNA-mediated DNA methylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in P granule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in P granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in piP-body ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    piwi-like protein 4
    Names
    piwi-like 4
    testis tissue sperm-binding protein Li 85P

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_152431.3NP_689644.2  piwi-like protein 4

      See identical proteins and their annotated locations for NP_689644.2

      Status: VALIDATED

      Source sequence(s)
      AB079366, BC031060, DB091271
      Consensus CDS
      CCDS31656.1
      UniProtKB/Swiss-Prot
      B4DEG5, Q68CZ4, Q7Z3Z4, Q8N8G9, Q8N9V8, Q8NEH2
      UniProtKB/TrEMBL
      A0A140VKG8
      Related
      ENSP00000299001.6, ENST00000299001.11
      Conserved Domains (2) summary
      cd02845
      Location:270386
      PAZ_piwi_like; 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 ...
      cd04658
      Location:394835
      Piwi_piwi-like_Euk; 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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      94567368..94621421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      94574415..94628468
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)