1. Gene
  2. PIWIL1 - piwi like RNA-mediated gene silencing 1 Gene

PIWIL1 - piwi like RNA-mediated gene silencing 1 Gene

Homo sapiens

Also known as HIWI; MIWI; PIWI; CT80.1

Gene ID: 9271 | Gene type: protein coding

About PIWIL1

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:130,337,887-130,426,260 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 216 orthologues and 3 paralogues. Restricted expression toward testis (RPKM 57.0).

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]

PIWIL1 Products(2)

mRNA Protein Name
NM_001190971.2 NP_001177900.1 piwi-like protein 1 isoform 2
NM_004764.5 NP_004755.2 piwi-like protein 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables piRNA binding IDA
IDA: Inferred from direct assay
28552346 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
14749716 GOA
Biological Process GO Annotation Evidence Reference Source
involved in spermatid development IMP
IMP: Inferred from mutant phenotype
28552346 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIWIL1 Protein Structure

GAGE

GAGE: GAGE protein (1 - 106)

PAZ

PAZ: PAZ domain (278 - 413)

Piwi

Piwi: Piwi domain (556 - 847)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 861 a.a.
Protein Preferred Names Protein Names

piwi-like protein 1

piwi homolog

Related Diseases

Diseases Alias
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Infertility
Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1

HP1

Glycolic Aciduria

Alanine-Glyoxylate Aminotransferase Deficiency

Hepatic Agt Deficiency

Oxalosis I

Primary Hyperoxaluria, Type I

Serine:Pyruvate Aminotransferase Deficiency

Hyperoxaluria, Primary, Type 1

Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency

Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency

Serine Pyruvate Aminotransferase Deficiency

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Oxalosis 1

Hyperoxaluria Primary 1

Hyperoxaluria Primary Type I

Ph1

Primary Hyperoxaluria Type I

Oxalosis Type 1

2-Oxoglutarate Glyoxylate Carboligase Deficiency

Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type

CHH

Mckusick Type Metaphyseal Chondrodysplasia

Metaphyseal Dysplasia Without Hypotrichosis

Cartilage Hair Hypoplasia Like Syndrome

Metaphyseal Chondrodysplasia Mckusick Type

Chhv

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

Cartilage-Hair Syndrome

Mckusick'S Metaphyseal Chondrodysplasia Syndrome

Metaphyseal Chondrodysplasia, Recessive Type

Autosomal Recessive Metaphyseal Chondrodysplasia

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus PIWIL1 VGNC VGNC:80463
Rattus norvegicus PIWIL1 RGD RGD:1306980
Bos taurus PIWIL1 VGNC VGNC:32927
Mus musculus PIWIL1 MGD MGI:1928897
Macaca mulatta PIWIL1 VGNC VGNC:81501
Canis familiaris PIWIL1 VGNC VGNC:44592