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

Gene ID: 9271, updated on 1-Jun-2020

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
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

Genomic context

See PIWIL1 in Genome Data Viewer
Location:
12q24.33
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endoribonuclease activity ISS
Inferred from Sequence or Structural Similarity
more info
 
mRNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
mRNA cap binding complex binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
piRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
polysome binding IEA
Inferred from Electronic Annotation
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
RNA phosphodiester bond hydrolysis, endonucleolytic IEA
Inferred from Electronic Annotation
more info
 
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
 
negative regulation of transposition ISS
Inferred from Sequence or Structural Similarity
more info
 
piRNA metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of translation IEA
Inferred from Electronic Annotation
more info
 
spermatid development IMP
Inferred from Mutant Phenotype
more info
PubMed 
spermatid development ISS
Inferred from Sequence or Structural Similarity
more info
 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
spermatogenesis, exchange of chromosomal proteins 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
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
piwi-like protein 1
Names
piwi homolog
NP_001177900.1
NP_004755.2
XP_011537304.1
XP_011537305.1
XP_011537306.1
XP_011537307.1
XP_011537308.1
XP_016875718.1
XP_024305045.1

NCBI Reference Sequences (RefSeq)

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
    Q96J94
    UniProtKB/TrEMBL
    A0A024RBS5
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011539002.3XP_011537304.1  piwi-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011537304.1

    UniProtKB/Swiss-Prot
    Q96J94
    UniProtKB/TrEMBL
    A0A024RBS5
    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_017020229.1XP_016875718.1  piwi-like protein 1 isoform X2

  3. XM_011539005.1XP_011537307.1  piwi-like protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011537307.1

    Conserved Domains (5) summary
    smart00949
    Location:277415
    PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille
    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 ...
    pfam05831
    Location:16106
    GAGE; GAGE protein
    pfam08699
    Location:228273
    ArgoL1; Argonaute linker 1 domain
    pfam16486
    Location:106216
    ArgoN; N-terminal domain of argonaute
  4. XM_011539003.3XP_011537305.1  piwi-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011537305.1

    UniProtKB/Swiss-Prot
    Q96J94
    UniProtKB/TrEMBL
    A0A024RBS5
    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_024449277.1XP_024305045.1  piwi-like protein 1 isoform X1

    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_011539004.3XP_011537306.1  piwi-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011537306.1

    UniProtKB/Swiss-Prot
    Q96J94
    UniProtKB/TrEMBL
    A0A024RBS5
    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
  7. XM_011539006.3XP_011537308.1  piwi-like protein 1 isoform X4

    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.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187589.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    14812..49543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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