U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    PIWIL1 piwi like RNA-mediated gene silencing 1 [ Homo sapiens (human) ]

    Gene ID: 9271, updated on 30-Oct-2024

    Summary

    Official Symbol
    PIWIL1provided by HGNC
    Official Full Name
    piwi like RNA-mediated gene silencing 1provided by HGNC
    Primary source
    HGNC:HGNC:9007
    See related
    Ensembl:ENSG00000125207 MIM:605571; AllianceGenome:HGNC:9007
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HIWI; MIWI; PIWI; CT80.1
    Summary
    This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
    Expression
    Restricted expression toward testis (RPKM 57.0) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PIWIL1 in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (130337887..130426260)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (130374979..130463542)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (130822432..130857182)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984480 Neighboring gene uncharacterized LOC101927786 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25825 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25828 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25829 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25830 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:130876206-130876706 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:130876795-130877994 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25849 Neighboring gene RIMS binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130931901-130932400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130935063-130935689 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:130938232-130938396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130947695-130948194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:130954155-130954656 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:130954657-130955156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130956221-130956721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7343 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:130966855-130967455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130988440-130988940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130988941-130989441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130998885-130999583 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25887 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:131047373-131048572 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25901 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:131092324-131092520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131097951-131098545 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:131118450-131118967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131145339-131145838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131188343-131189087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131212975-131213518 Neighboring gene uncharacterized LOC105370080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131246445-131247250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7345 Neighboring gene Sharpr-MPRA regulatory region 14372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:131271649-131272370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:131272371-131273092 Neighboring gene Sharpr-MPRA regulatory region 967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:131290439-131291361 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:131296228-131296411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7347 Neighboring gene uncharacterized LOC124903117 Neighboring gene syntaxin 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA endonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables mRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables mRNA cap binding complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables single-stranded RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    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 piRNA-mediated gene silencing by mRNA destabilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in piRNA-mediated retrotransposon silencing by heterochromatin formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in primary piRNA processing ISS
    Inferred from Sequence or Structural Similarity
    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 regulatory ncRNA-mediated gene silencing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sperm DNA condensation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in spermatid development 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
     
    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 chromatoid body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dense body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    piwi-like protein 1
    Names
    piwi homolog

    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_001190971.2NP_001177900.1  piwi-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001177900.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 3' sequence, as compared to variant 1. The resulting isoform (2) is shorter and has a different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC127071, AK093133, BC028581, DB072454
      UniProtKB/Swiss-Prot
      Q96J94
      Conserved Domains (5) summary
      smart00949
      Location:277415
      PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille
      cd04658
      Location:401823
      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 ...
      pfam05831
      Location:16106
      GAGE; GAGE protein
      pfam08699
      Location:228273
      ArgoL1; Argonaute linker 1 domain
      pfam16486
      Location:106216
      ArgoN; N-terminal domain of argonaute
    2. NM_004764.5NP_004755.2  piwi-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_004755.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC127071, AF104260, BC028581, DB072454, DB527532
      Consensus CDS
      CCDS9268.1
      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5
      Related
      ENSP00000245255.3, ENST00000245255.7
      Conserved Domains (4) summary
      smart00949
      Location:277415
      PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille
      cd04658
      Location:401844
      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 ...
      pfam05831
      Location:16106
      GAGE; GAGE protein
      pfam08699
      Location:227273
      ArgoL1; Argonaute linker 1 domain

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      130337887..130426260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539002.4XP_011537304.1  piwi-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011537304.1

      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5
      Conserved Domains (4) summary
      smart00949
      Location:277415
      PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille
      cd04658
      Location:401844
      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 ...
      pfam05831
      Location:16106
      GAGE; GAGE protein
      pfam08699
      Location:227273
      ArgoL1; Argonaute linker 1 domain
    2. XM_047429892.1XP_047285848.1  piwi-like protein 1 isoform X2

    3. XM_011539003.4XP_011537305.1  piwi-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011537305.1

      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5
      Conserved Domains (4) summary
      smart00949
      Location:277415
      PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille
      cd04658
      Location:401844
      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 ...
      pfam05831
      Location:16106
      GAGE; GAGE protein
      pfam08699
      Location:227273
      ArgoL1; Argonaute linker 1 domain
    4. XM_024449277.2XP_024305045.1  piwi-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5
      Conserved Domains (4) summary
      smart00949
      Location:277415
      PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille
      cd04658
      Location:401844
      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 ...
      pfam05831
      Location:16106
      GAGE; GAGE protein
      pfam08699
      Location:227273
      ArgoL1; Argonaute linker 1 domain
    5. XM_011539004.4XP_011537306.1  piwi-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011537306.1

      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5
      Conserved Domains (4) summary
      smart00949
      Location:277415
      PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille
      cd04658
      Location:401844
      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 ...
      pfam05831
      Location:16106
      GAGE; GAGE protein
      pfam08699
      Location:227273
      ArgoL1; Argonaute linker 1 domain
    6. XM_011539006.4XP_011537308.1  piwi-like protein 1 isoform X3

      Conserved Domains (2) summary
      smart00949
      Location:135
      PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille
      cd04658
      Location:21464
      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 ...

    RNA

    1. XR_007063144.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187589.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      14800..49543
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328934.1XP_054184909.1  piwi-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5
    2. XM_054328938.1XP_054184913.1  piwi-like protein 1 isoform X2

    3. XM_054328935.1XP_054184910.1  piwi-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5
    4. XM_054328937.1XP_054184912.1  piwi-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5
    5. XM_054328936.1XP_054184911.1  piwi-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      130374979..130463542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373853.1XP_054229828.1  piwi-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5
    2. XM_054373857.1XP_054229832.1  piwi-like protein 1 isoform X2

    3. XM_054373854.1XP_054229829.1  piwi-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5
    4. XM_054373856.1XP_054229831.1  piwi-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5
    5. XM_054373855.1XP_054229830.1  piwi-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5
    6. XM_054373858.1XP_054229833.1  piwi-like protein 1 isoform X3

    RNA

    1. XR_008488712.1 RNA Sequence