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UniProtKB - Q96J94 (PIWL1_HUMAN)

Entry version 142 (02 Dec 2020)
Sequence version 1 (01 Dec 2001)
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Protein

Piwi-like protein 1

Gene

PIWIL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Endoribonuclease that plays a central role in postnatal germ cells by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Directly binds methylated piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Strongly prefers a uridine in the first position of their guide (g1U preference, also named 1U-bias). Not involved in the piRNA amplification loop, also named ping-pong amplification cycle. Acts as an endoribonuclease that cleaves transposon messenger RNAs. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation. Probable component of some RISC complex, which mediates RNA cleavage and translational silencing. Also plays a role in the formation of chromatoid bodies and is required for some miRNAs stability. Required to sequester RNF8 in the cytoplasm until late spermatogenesis; RNF8 being released upon ubiquitination and degradation of PIWIL1.By similarity
May be a negative developmental regulator (PubMed:12037681, PubMed:16287078).2 Publications

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei381Required for binding 2'-O-methylated 3'-end of piRNAs1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei632By similarity1
Active sitei670By similarity1
Active sitei702By similarity1
Active sitei836By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, Endonuclease, Hydrolase, Nuclease, RNA-binding
Biological processDifferentiation, Meiosis, RNA-mediated gene silencing, Spermatogenesis, Translation regulation
LigandMagnesium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96J94

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5601884, PIWI-interacting RNA (piRNA) biogenesis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Piwi-like protein 1 (EC:3.1.26.-By similarity)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PIWIL1
Synonyms:HIWI2 Publications
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000125207.7

Human Gene Nomenclature Database

More...HGNCi		HGNC:9007, PIWIL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605571, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96J94

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Defects in PIWIL1 may be a cause of a disorder resulting in the absence of sperm (azoospermia) in the semen, leading to male infertility. Male sterility can be caused by defects in ubiquitination and degradation during late spermatogenesis.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi379P → H: Impairs binding to 2'-O-methylated 3'-end of piRNAs; when associated with Y-381. 1 Publication1
Mutagenesisi381M → Y: Impairs binding to 2'-O-methylated 3'-end of piRNAs; when associated with H-379. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		9271

Open Targets

More...OpenTargetsi		ENSG00000125207

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33341

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96J94, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PIWIL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74716803

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002345671 – 861Piwi-like protein 1Add BLAST861

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei14Omega-N-methylarginine; by PRMT5; alternateBy similarity1
Modified residuei14Symmetric dimethylarginine; by PRMT5; alternateBy similarity1
Modified residuei49Omega-N-methylarginine; by PRMT5By similarity1
Modified residuei53Omega-N-methylarginine; alternateBy similarity1
Modified residuei53Symmetric dimethylarginine; alternateBy similarity1
Modified residuei370Omega-N-methylarginine; by PRMT5By similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Arginine methylation by PRMT5 is required for the interaction with Tudor domain-containing protein (TDRD1, TDRKH/TDRD2, RNF17/TDRD4, TDRD6, TDRD7 and TDRD9) and subsequent localization to the meiotic nuage, also named P granule.By similarity
Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C) in late spermatids, leading to its degradation (PubMed:28552346). Ubiquitination only takes place following piRNA-binding in adult testis (By similarity). Ubiquitination and degradation in late spermatogenesis by APC/C is probably required to release RNF8 from the cytoplasm and promote histone to protamine exchange by RNF8 (By similarity).By similarity1 Publication

Keywords - PTMi

Methylation, Ubl conjugation

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96J94

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q96J94

PeptideAtlas

More...PeptideAtlasi		Q96J94

PRoteomics IDEntifications database

More...PRIDEi		Q96J94

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76913 [Q96J94-1]
76914 [Q96J94-2]
76915 [Q96J94-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96J94

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q96J94

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in spermatocytes and spermatids. Also detected in prostate cancer (at protein level). Detected in most fetal and adult tissues. Expressed in testes, specifically in germline cells; detected in spermatocytes and spermatids during spermatogenesis. Increased expression in testicular tumors originating from embryonic germ cells with retention of germ cells phenotype. No expression in testicular tumors of somatic origin, such as Sertoli cell and Leydig cell tumors. Overexpressed in gastric cancer cells. Isoform 3: Ubiquitously expressed, and specifically in CD34+ hematopoietic progenitor cells but not in more differentiated cells.4 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Down-regulated in CD34+ hematopoietic cells during differentiation.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000125207, Expressed in testis and 112 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96J94, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96J94, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000125207, Tissue enriched (testis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via Piwi domain) with DICER1, suggesting that it forms ribonucleoprotein RISC complexes; this interaction is regulated by HSP90AB1 activity.

Interacts with MAEL, KIF17, PABPC1, PRMT5 and WDR77.

Interacts (when methylated on arginine residues) with TDRD1, TDRKH/TDRD2, RNF17/TDRD4, TDRD6, TDRD7 and TDRD9.

Interacts with CLOCK.

Interacts with MOV10L1.

Interacts with ANAPC10; interaction oly takes place following piRNA-binding.

Interacts with RNF8; leading to sequester RNF8 in the cytoplasm.

Interacts with TEX19 (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114690, 8 interactors

Database of interacting proteins

More...DIPi		DIP-33534N

Protein interaction database and analysis system

More...IntActi		Q96J94, 15 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000245255

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96J94, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1861
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		Q96J94

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q96J94

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q96J94

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini277 – 391PAZPROSITE-ProRule annotationAdd BLAST115
Domaini555 – 847PiwiPROSITE-ProRule annotationAdd BLAST293

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni316 – 318Required for binding 2'-O-methylated 3'-end of piRNAs1 Publication3
Regioni479 – 615MID regionBy similarityAdd BLAST137

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi217 – 224D-box1 Publication8

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PAZ domain specifically recognizes binds the 2'-O-methylated 3'-end of piRNAs (PubMed:21193640, PubMed:21465557). The MID region is required for recognition of uridine in the first position of piRNAs (g1U preference, also named 1U-bias) (By similarity).By similarity2 Publications
The D-box (destruction box) acts as a recognition signal for association with the APC/C complex, ubiquitination and degradation.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the argonaute family. Piwi subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1042, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183200

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_008813_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96J94

Identification of Orthologs from Complete Genome Data

More...OMAi		TPSMGIR

Database of Orthologous Groups

More...OrthoDBi		220258at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96J94

TreeFam database of animal gene trees

More...TreeFami		TF354206

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.420.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR014811, ArgoL1
IPR031320, GAGE
IPR003100, PAZ_dom
IPR036085, PAZ_dom_sf
IPR003165, Piwi
IPR031326, PIWIL1
IPR012337, RNaseH-like_sf
IPR036397, RNaseH_sf

The PANTHER Classification System

More...PANTHERi		PTHR22891:SF46, PTHR22891:SF46, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08699, ArgoL1, 1 hit
PF05831, GAGE, 1 hit
PF02170, PAZ, 1 hit
PF02171, Piwi, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01379, GAGE, 1 hit
SM00949, PAZ, 1 hit
SM00950, Piwi, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF101690, SSF101690, 1 hit
SSF53098, SSF53098, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50821, PAZ, 1 hit
PS50822, PIWI, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96J94-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTGRARARAR GRARGQETAQ LVGSTASQQP GYIQPRPQPP PAEGELFGRG 
        60         70         80         90        100
RQRGTAGGTA KSQGLQISAG FQELSLAERG GRRRDFHDLG VNTRQNLDHV 
       110        120        130        140        150
KESKTGSSGI IVRLSTNHFR LTSRPQWALY QYHIDYNPLM EARRLRSALL 
       160        170        180        190        200
FQHEDLIGKC HAFDGTILFL PKRLQQKVTE VFSKTRNGED VRITITLTNE 
       210        220        230        240        250
LPPTSPTCLQ FYNIIFRRLL KIMNLQQIGR NYYNPNDPID IPSHRLVIWP 
       260        270        280        290        300
GFTTSILQYE NSIMLCTDVS HKVLRSETVL DFMFNFYHQT EEHKFQEQVS 
       310        320        330        340        350
KELIGLVVLT KYNNKTYRVD DIDWDQNPKS TFKKADGSEV SFLEYYRKQY 
       360        370        380        390        400
NQEITDLKQP VLVSQPKRRR GPGGTLPGPA MLIPELCYLT GLTDKMRNDF 
       410        420        430        440        450
NVMKDLAVHT RLTPEQRQRE VGRLIDYIHK NDNVQRELRD WGLSFDSNLL 
       460        470        480        490        500
SFSGRILQTE KIHQGGKTFD YNPQFADWSK ETRGAPLISV KPLDNWLLIY 
       510        520        530        540        550
TRRNYEAANS LIQNLFKVTP AMGMQMRKAI MIEVDDRTEA YLRVLQQKVT 
       560        570        580        590        600
ADTQIVVCLL SSNRKDKYDA IKKYLCTDCP TPSQCVVART LGKQQTVMAI 
       610        620        630        640        650
ATKIALQMNC KMGGELWRVD IPLKLVMIVG IDCYHDMTAG RRSIAGFVAS 
       660        670        680        690        700
INEGMTRWFS RCIFQDRGQE LVDGLKVCLQ AALRAWNSCN EYMPSRIIVY 
       710        720        730        740        750
RDGVGDGQLK TLVNYEVPQF LDCLKSIGRG YNPRLTVIVV KKRVNTRFFA 
       760        770        780        790        800
QSGGRLQNPL PGTVIDVEVT RPEWYDFFIV SQAVRSGSVS PTHYNVIYDN 
       810        820        830        840        850
SGLKPDHIQR LTYKLCHIYY NWPGVIRVPA PCQYAHKLAF LVGQSIHREP 
       860 
NLSLSNRLYY L
Length:861
Mass (Da):98,603
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i58D7F6C7321DEFA4
GO
Isoform 2 (identifier: Q96J94-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     824-829: GVIRVP → VSASTC
     830-861: Missing.

Show »
Length:829
Mass (Da):94,845
Checksum:i03ADA415D1C159C3
GO
Isoform 3 (identifier: Q96J94-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-86: Missing.
     87-89: HDL → MIF

Show »
Length:775
Mass (Da):89,484
Checksum:iDF169A2E9EAFD916
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H2F7F5H2F7_HUMAN
Piwi-like protein 1
PIWIL1
172Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H3U6F5H3U6_HUMAN
Piwi-like protein 1
PIWIL1
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H889F5H889_HUMAN
Piwi-like protein 1
PIWIL1
165Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GZL9F5GZL9_HUMAN
Piwi-like protein 1
PIWIL1
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GYG0F5GYG0_HUMAN
Piwi-like protein 1
PIWIL1
122Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti178V → A in BAC04068 (PubMed:14702039).Curated1
Sequence conflicti314N → I in AAC97371 (PubMed:12037681).Curated1
Sequence conflicti339E → G in AAC97371 (PubMed:12037681).Curated1
Sequence conflicti353E → K in BAF49084 (PubMed:17544373).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078965217R → A Probable disease-associated variant found in a patient with azoospermia; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_078966220L → A Probable disease-associated variant found in a patient with azoospermia; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_078967220L → G Probable disease-associated variant found in a patient with azoospermia; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_078968220L → R Probable disease-associated variant found in a patient with azoospermia. 1 Publication1
Natural variantiVAR_078969224N → H Probable disease-associated variant found in a patient with azoospermia. 1 Publication1
Natural variantiVAR_026288491K → N1 PublicationCorresponds to variant dbSNP:rs17856812Ensembl.1
Natural variantiVAR_026289527R → K1 PublicationCorresponds to variant dbSNP:rs1106042Ensembl.1
Natural variantiVAR_026290575L → P1 PublicationCorresponds to variant dbSNP:rs17852568Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0183661 – 86Missing in isoform 3. 1 PublicationAdd BLAST86
Alternative sequenceiVSP_01836787 – 89HDL → MIF in isoform 3. 1 Publication3
Alternative sequenceiVSP_018368824 – 829GVIRVP → VSASTC in isoform 2. 1 Publication6
Alternative sequenceiVSP_018369830 – 861Missing in isoform 2. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF264004 mRNA Translation: AAK92281.1
AF104260 mRNA Translation: AAC97371.2
AF387507 mRNA Translation: AAK69348.1
AK093133 mRNA Translation: BAC04068.1
BC028581 mRNA Translation: AAH28581.1
AB274731 mRNA Translation: BAF49084.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9268.1 [Q96J94-1]

NCBI Reference Sequences

More...RefSeqi		NP_001177900.1, NM_001190971.1 [Q96J94-2]
NP_004755.2, NM_004764.4 [Q96J94-1]
XP_011537304.1, XM_011539002.2 [Q96J94-1]
XP_011537305.1, XM_011539003.2 [Q96J94-1]
XP_011537306.1, XM_011539004.2 [Q96J94-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000245255; ENSP00000245255; ENSG00000125207 [Q96J94-1]
ENST00000613226; ENSP00000481042; ENSG00000275051 [Q96J94-1]
ENST00000632888; ENSP00000487688; ENSG00000275051 [Q96J94-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9271

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9271

UCSC genome browser

More...UCSCi		uc001uik.4, human [Q96J94-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF264004 mRNA Translation: AAK92281.1
AF104260 mRNA Translation: AAC97371.2
AF387507 mRNA Translation: AAK69348.1
AK093133 mRNA Translation: BAC04068.1
BC028581 mRNA Translation: AAH28581.1
AB274731 mRNA Translation: BAF49084.1
CCDSiCCDS9268.1 [Q96J94-1]
RefSeqiNP_001177900.1, NM_001190971.1 [Q96J94-2]
NP_004755.2, NM_004764.4 [Q96J94-1]
XP_011537304.1, XM_011539002.2 [Q96J94-1]
XP_011537305.1, XM_011539003.2 [Q96J94-1]
XP_011537306.1, XM_011539004.2 [Q96J94-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2L5CNMR-A266-399[»]
2L5DNMR-A266-399[»]
3O3IX-ray2.80X277-399[»]
3O6EX-ray2.90X277-399[»]
3O7VX-ray2.10X276-399[»]
6PI7X-ray2.80G2-17[»]
BMRBiQ96J94
SMRiQ96J94
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114690, 8 interactors
DIPiDIP-33534N
IntActiQ96J94, 15 interactors
STRINGi9606.ENSP00000245255

PTM databases

iPTMnetiQ96J94
PhosphoSitePlusiQ96J94

Polymorphism and mutation databases

BioMutaiPIWIL1
DMDMi74716803

Proteomic databases

MassIVEiQ96J94
PaxDbiQ96J94
PeptideAtlasiQ96J94
PRIDEiQ96J94
ProteomicsDBi76913 [Q96J94-1]
76914 [Q96J94-2]
76915 [Q96J94-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31942, 277 antibodies

Genome annotation databases

EnsembliENST00000245255; ENSP00000245255; ENSG00000125207 [Q96J94-1]
ENST00000613226; ENSP00000481042; ENSG00000275051 [Q96J94-1]
ENST00000632888; ENSP00000487688; ENSG00000275051 [Q96J94-2]
GeneIDi9271
KEGGihsa:9271
UCSCiuc001uik.4, human [Q96J94-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9271
DisGeNETi9271
EuPathDBiHostDB:ENSG00000125207.7

GeneCards: human genes, protein and diseases

More...GeneCardsi		PIWIL1
HGNCiHGNC:9007, PIWIL1
HPAiENSG00000125207, Tissue enriched (testis)
MIMi605571, gene
neXtProtiNX_Q96J94
OpenTargetsiENSG00000125207
PharmGKBiPA33341

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1042, Eukaryota
GeneTreeiENSGT00950000183200
HOGENOMiCLU_008813_0_0_1
InParanoidiQ96J94
OMAiTPSMGIR
OrthoDBi220258at2759
PhylomeDBiQ96J94
TreeFamiTF354206

Enzyme and pathway databases

PathwayCommonsiQ96J94
ReactomeiR-HSA-5601884, PIWI-interacting RNA (piRNA) biogenesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9271, 5 hits in 846 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PIWIL1, human
EvolutionaryTraceiQ96J94

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PIWIL1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		9271
PharosiQ96J94, Tbio

Protein Ontology

More...PROi		PR:Q96J94
RNActiQ96J94, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000125207, Expressed in testis and 112 other tissues
ExpressionAtlasiQ96J94, baseline and differential
GenevisibleiQ96J94, HS

Family and domain databases

Gene3Di3.30.420.10, 1 hit
InterProiView protein in InterPro
IPR014811, ArgoL1
IPR031320, GAGE
IPR003100, PAZ_dom
IPR036085, PAZ_dom_sf
IPR003165, Piwi
IPR031326, PIWIL1
IPR012337, RNaseH-like_sf
IPR036397, RNaseH_sf
PANTHERiPTHR22891:SF46, PTHR22891:SF46, 1 hit
PfamiView protein in Pfam
PF08699, ArgoL1, 1 hit
PF05831, GAGE, 1 hit
PF02170, PAZ, 1 hit
PF02171, Piwi, 1 hit
SMARTiView protein in SMART
SM01379, GAGE, 1 hit
SM00949, PAZ, 1 hit
SM00950, Piwi, 1 hit
SUPFAMiSSF101690, SSF101690, 1 hit
SSF53098, SSF53098, 1 hit
PROSITEiView protein in PROSITE
PS50821, PAZ, 1 hit
PS50822, PIWI, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPIWL1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96J94
Secondary accession number(s): A4F266
, O95404, Q8NA60, Q8TBY5, Q96JD5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: December 1, 2001
Last modified: December 2, 2020
This is version 142 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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