PIWIL1
Piwi-like protein 1
Also known as: CT80.1, HIWI, PIWI, PIWL1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96J94
- Gene
- PIWIL1
- Ensembl
- ENSG00000125207
- Chromosome
- 12
- Canonical length
- 861 aa
- Protein class
- Disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
861 residues, UniProt reviewed canonical sequence.
>Q96J94|PIWIL1
1 MTGRARARAR GRARGQETAQ LVGSTASQQP GYIQPRPQPP PAEGELFGRG RQRGTAGGTA
61 KSQGLQISAG FQELSLAERG GRRRDFHDLG VNTRQNLDHV KESKTGSSGI IVRLSTNHFR
121 LTSRPQWALY QYHIDYNPLM EARRLRSALL FQHEDLIGKC HAFDGTILFL PKRLQQKVTE
181 VFSKTRNGED VRITITLTNE LPPTSPTCLQ FYNIIFRRLL KIMNLQQIGR NYYNPNDPID
241 IPSHRLVIWP GFTTSILQYE NSIMLCTDVS HKVLRSETVL DFMFNFYHQT EEHKFQEQVS
301 KELIGLVVLT KYNNKTYRVD DIDWDQNPKS TFKKADGSEV SFLEYYRKQY NQEITDLKQP
361 VLVSQPKRRR GPGGTLPGPA MLIPELCYLT GLTDKMRNDF NVMKDLAVHT RLTPEQRQRE
421 VGRLIDYIHK NDNVQRELRD WGLSFDSNLL SFSGRILQTE KIHQGGKTFD YNPQFADWSK
481 ETRGAPLISV KPLDNWLLIY TRRNYEAANS LIQNLFKVTP AMGMQMRKAI MIEVDDRTEA
541 YLRVLQQKVT ADTQIVVCLL SSNRKDKYDA IKKYLCTDCP TPSQCVVART LGKQQTVMAI
601 ATKIALQMNC KMGGELWRVD IPLKLVMIVG IDCYHDMTAG RRSIAGFVAS INEGMTRWFS
661 RCIFQDRGQE LVDGLKVCLQ AALRAWNSCN EYMPSRIIVY RDGVGDGQLK TLVNYEVPQF
721 LDCLKSIGRG YNPRLTVIVV KKRVNTRFFA QSGGRLQNPL PGTVIDVEVT RPEWYDFFIV
781 SQAVRSGSVS PTHYNVIYDN SGLKPDHIQR LTYKLCHIYY NWPGVIRVPA PCQYAHKLAF
841 LVGQSIHREP NLSLSNRLYY LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PIWIL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 40 nTPM
Expression across tissuesHPA
Tissue
- testis: 40 nTPM
- retina: 1.1 nTPM
- pituitary gland: 0.7 nTPM
- kidney: 0.4 nTPM
- spleen: 0.4 nTPM
- cervix: 0.1 nTPM
Single-cell type
- late primary spermatocytes: 72 nCPM
- early spermatids: 30 nCPM
- late spermatids: 23 nCPM
- rod photoreceptor cells: 16 nCPM
- early primary spermatocytes: 10 nCPM
- cone photoreceptor cells: 8.3 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 0.1 nTPM
- hippocampal formation: 0.1 nTPM
- hypothalamus: 0.1 nTPM
- midbrain: 0.1 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PIWIL1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 119 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.77
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.9
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- meiotic cell cycle
- piRNA processing
- piRNA-mediated gene silencing by mRNA destabilization
- regulation of translation
- regulatory ncRNA-mediated gene silencing
- sperm DNA condensation
- spermatid development
- spermatogenesis
- transposable element silencing by piRNA-mediated heterochromatin formation
- primary piRNA processing
Molecular functions
- hydrolase activity
- metal ion binding
- mRNA binding
- mRNA cap binding complex binding
- piRNA binding
- protein kinase binding
- RNA endonuclease activity
- single-stranded RNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PIWIL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PIWIL1 as an antibody target. Whether an autoantibody or antibody against PIWIL1 could matter depends on whether native PIWIL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PIWIL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PIWIL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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