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

    Gene ID: 9271, updated on 16-Jul-2016
    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 HPRD:10409; MIM:605571; Vega:OTTHUMG00000168382
    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]
    Orthologs
    Location:
    12q24.33
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (130337887..130412708)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (130822433..130856877)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984480 Neighboring gene uncharacterized LOC101927786 Neighboring gene RIMS binding protein 2 Neighboring gene uncharacterized LOC105370079 Neighboring gene uncharacterized LOC105370080

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    mRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    piRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    single-stranded RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    gene silencing by RNA ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    piRNA metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    P granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chromatoid body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dense body IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA cap binding complex IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    polysome IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    piwi-like protein 1
    Names
    piwi homolog
    piwi-like RNA-mediated gene silencing 1

    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_001190971.1NP_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)
      AK093133, BC028581, DB072454
      UniProtKB/Swiss-Prot
      Q96J94
      Conserved Domains (3) summary
      pfam05831
      Location:17101
      GAGE; GAGE protein
      cd02845
      Location:276393
      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: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 ...
    2. NM_004764.4NP_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)
      AF104260, BC028581, DB072454, DB527532
      Consensus CDS
      CCDS9268.1
      UniProtKB/Swiss-Prot
      Q96J94
      UniProtKB/TrEMBL
      A0A024RBS5
      Related
      ENSP00000245255, OTTHUMP00000238660, ENST00000245255, OTTHUMT00000399510
      Conserved Domains (5) 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:228273
      ArgoL1; Argonaute linker 1 domain
      pfam16486
      Location:106216
      ArgoN; N-terminal domain of argonaute

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      130337887..130412708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539002.2XP_011537304.1  

      See identical proteins and their annotated locations for XP_011537304.1

      UniProtKB/Swiss-Prot
      Q96J94
      UniProtKB/TrEMBL
      A0A024RBS5
      Conserved Domains (5) 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:228273
      ArgoL1; Argonaute linker 1 domain
      pfam16486
      Location:106216
      ArgoN; N-terminal domain of argonaute
    2. XM_017020229.1XP_016875718.1  

    3. XM_011539005.1XP_011537307.1  

      See identical proteins and their annotated locations for XP_011537307.1

      Conserved Domains (3) summary
      pfam05831
      Location:17101
      GAGE; GAGE protein
      cd02845
      Location:276393
      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:401802
      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 ...
    4. XM_011539003.2XP_011537305.1  

      See identical proteins and their annotated locations for XP_011537305.1

      UniProtKB/Swiss-Prot
      Q96J94
      UniProtKB/TrEMBL
      A0A024RBS5
      Conserved Domains (5) 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:228273
      ArgoL1; Argonaute linker 1 domain
      pfam16486
      Location:106216
      ArgoN; N-terminal domain of argonaute
    5. XM_011539004.2XP_011537306.1  

      See identical proteins and their annotated locations for XP_011537306.1

      UniProtKB/Swiss-Prot
      Q96J94
      UniProtKB/TrEMBL
      A0A024RBS5
      Conserved Domains (5) 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:228273
      ArgoL1; Argonaute linker 1 domain
      pfam16486
      Location:106216
      ArgoN; N-terminal domain of argonaute
    6. XM_011539006.2XP_011537308.1  

      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 ...

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187589.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      14813..49260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      130643298..130677747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)