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

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel piwi-interacting RNA associates with type 2-high asthma phenotypes.
Title: A novel piwi-interacting RNA associates with type 2-high asthma phenotypes.
Relationship between PIWIL1 gene polymorphisms and epithelial ovarian cancer susceptibility among southern Chinese woman: a three-center case-control study.
Title: Relationship between PIWIL1 gene polymorphisms and epithelial ovarian cancer susceptibility among southern Chinese woman: a three-center case-control study.
Impact of PIWIL1 Single Nucleotide Polymorphisms on Gastric Cancer Risk in a Chinese Population.
Title: Impact of PIWIL1 Single Nucleotide Polymorphisms on Gastric Cancer Risk in a Chinese Population.
Noncanonical functions of PIWIL1/piRNAs in animal male germ cells and human diseasesdagger.
Title: Noncanonical functions of PIWIL1/piRNAs in animal male germ cells and human diseases†.
Association of MicroRNA Biogenesis Genes Polymorphisms with Risk of Large Artery Atherosclerosis Stroke.
Title: Association of MicroRNA Biogenesis Genes Polymorphisms with Risk of Large Artery Atherosclerosis Stroke.
PIWI-Interacting RNA Pathway Genes: Potential Biomarkers for Clear Cell Renal Cell Carcinoma.
Title: PIWI-Interacting RNA Pathway Genes: Potential Biomarkers for Clear Cell Renal Cell Carcinoma.
PIWIL1 governs the crosstalk of cancer cell metabolism and immunosuppressive microenvironment in hepatocellular carcinoma.
Title: PIWIL1 governs the crosstalk of cancer cell metabolism and immunosuppressive microenvironment in hepatocellular carcinoma.
PIWI proteins and piRNAs in cervical cancer: a propitious dart in cancer stem cell-targeted therapy.
Title: PIWI proteins and piRNAs in cervical cancer: a propitious dart in cancer stem cell-targeted therapy.
DNA methylation profiling identifies epigenetic differences between early versus late stages of diabetic chronic kidney disease.
Title: DNA methylation profiling identifies epigenetic differences between early versus late stages of diabetic chronic kidney disease.
Lower Spermatozoal PIWI-LIKE 1 and 2 Transcript Levels Are Significantly Associated with Higher Fertilization Rates in IVF.
Title: Lower Spermatozoal PIWI-LIKE 1 and 2 Transcript Levels Are Significantly Associated with Higher Fertilization Rates in IVF.

Submit: New GeneRIF Correction See all GeneRIFs (74)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102272 (e-PCR)
- UniSTS:96606

PIWIL1 (e-PCR)
- UniSTS:504221

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

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Preferred Names: piwi-like protein 1

Names: piwi homolog

NP_001177900.1

EC 3.1.26.-

NP_004755.2

EC 3.1.26.-

XP_011537304.1

EC 3.1.26.-

XP_011537305.1

EC 3.1.26.-

XP_011537306.1

EC 3.1.26.-

XP_011537308.1

EC 3.1.26.-

XP_024305045.1

EC 3.1.26.-

XP_047285848.1

EC 3.1.26.-

XP_054184909.1

EC 3.1.26.-

XP_054184910.1

EC 3.1.26.-

XP_054184911.1

EC 3.1.26.-

XP_054184912.1

EC 3.1.26.-

XP_054184913.1

EC 3.1.26.-

XP_054229828.1

EC 3.1.26.-

XP_054229829.1

EC 3.1.26.-

XP_054229830.1

EC 3.1.26.-

XP_054229831.1

EC 3.1.26.-

XP_054229832.1

EC 3.1.26.-

XP_054229833.1

EC 3.1.26.-

NCBI Reference Sequences (RefSeq)

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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)

NM_001190971.2 → NP_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:277 → 415

PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille

cd04658
Location:401 → 823

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:16 → 106

GAGE; GAGE protein

pfam08699
Location:228 → 273

ArgoL1; Argonaute linker 1 domain

pfam16486
Location:106 → 216

ArgoN; N-terminal domain of argonaute
NM_004764.5 → NP_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:277 → 415

PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille

cd04658
Location:401 → 844

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:16 → 106

GAGE; GAGE protein

pfam08699
Location:227 → 273

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

130337887..130426260

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011539002.4 → XP_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:277 → 415

PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille

cd04658
Location:401 → 844

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:16 → 106

GAGE; GAGE protein

pfam08699
Location:227 → 273

ArgoL1; Argonaute linker 1 domain
XM_047429892.1 → XP_047285848.1 piwi-like protein 1 isoform X2
XM_011539003.4 → XP_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:277 → 415

PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille

cd04658
Location:401 → 844

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:16 → 106

GAGE; GAGE protein

pfam08699
Location:227 → 273

ArgoL1; Argonaute linker 1 domain
XM_024449277.2 → XP_024305045.1 piwi-like protein 1 isoform X1

UniProtKB/Swiss-Prot

A4F266, O95404, Q8NA60, Q8TBY5, Q96J94, Q96JD5

Conserved Domains (4) summary

smart00949
Location:277 → 415

PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille

cd04658
Location:401 → 844

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:16 → 106

GAGE; GAGE protein

pfam08699
Location:227 → 273

ArgoL1; Argonaute linker 1 domain
XM_011539004.4 → XP_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:277 → 415

PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille

cd04658
Location:401 → 844

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:16 → 106

GAGE; GAGE protein

pfam08699
Location:227 → 273

ArgoL1; Argonaute linker 1 domain
XM_011539006.4 → XP_011537308.1 piwi-like protein 1 isoform X3

Conserved Domains (2) summary

smart00949
Location:1 → 35

PAZ; This domain is named PAZ after the proteins Piwi Argonaut and Zwille

cd04658
Location:21 → 464

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 ...