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UniProtKB - P14222 (PERF_HUMAN)

Entry version 201 (18 Sep 2019)
Sequence version 1 (01 Jan 1990)
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Protein

Perforin-1

Gene

PRF1

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

Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes.6 Publications

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>Sitei214Important for oligomerizationBy similarity1
Sitei344Important for oligomerizationBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi436Calcium 1By similarity1
Metal bindingi484Calcium 1By similarity1
Metal bindingi486Calcium 2; via carbonyl oxygenBy similarity1
Metal bindingi491Calcium 2By 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

Biological processCytolysis
LigandCalcium, Metal-binding

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...SIGNORi		P14222

Protein family/group databases

Transport Classification Database

More...TCDBi		1.C.39.2.8 the membrane attack complex/perforin (macpf) family

<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_and_taxonomy_section">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:
Perforin-1
Short name:
P1
Alternative name(s):
Cytolysin
Lymphocyte pore-forming protein
Short name:
PFP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:PRF1
Synonyms:PFP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:9360 PRF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		170280 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P14222

<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

Cell membrane, Endosome, Membrane, Secreted

<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

Familial hemophagocytic lymphohistiocytosis 2 (FHL2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.
Related information in OMIM
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_01077250V → M in FHL2. 1 PublicationCorresponds to variant dbSNP:rs776299562Ensembl.1
Natural variantiVAR_010744183V → G in FHL2. 1 PublicationCorresponds to variant dbSNP:rs104894183EnsemblClinVar.1
Natural variantiVAR_010774224I → N in FHL2. 1 Publication1
Natural variantiVAR_010745225R → W in FHL2. 1 PublicationCorresponds to variant dbSNP:rs28933973EnsemblClinVar.1
Natural variantiVAR_010746252N → S in FHL2. 1 PublicationCorresponds to variant dbSNP:rs28933375EnsemblClinVar.1
Natural variantiVAR_010747279C → Y in FHL2. 1 PublicationCorresponds to variant dbSNP:rs104894182EnsemblClinVar.1
Natural variantiVAR_010775285Missing in FHL2. 1 Publication1
Natural variantiVAR_010748345P → L in FHL2. 1 PublicationCorresponds to variant dbSNP:rs28933374EnsemblClinVar.1
Natural variantiVAR_010749429G → E in FHL2. 1 PublicationCorresponds to variant dbSNP:rs104894181EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Familial hemophagocytic lymphohistiocytosis

Organism-specific databases

DisGeNET

More...DisGeNETi		5551

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PRF1

MalaCards human disease database

More...MalaCardsi		PRF1
MIMi603553 phenotype

Open Targets

More...OpenTargetsi		ENSG00000180644

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		540 Familial hemophagocytic lymphohistiocytosis
391343 Fatal post-viral neurodegenerative disorder
88 Idiopathic aplastic anemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33732

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5480

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PRF1

Domain mapping of disease mutations (DMDM)

More...DMDMi		129819

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Add BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002360922 – 555Perforin-1Add BLAST534

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi23 ↔ 76By similarity
Disulfide bondi31 ↔ 73By similarity
Disulfide bondi102 ↔ 176By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi205N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi242 ↔ 408By similarity
Disulfide bondi377 ↔ 393By similarity
Disulfide bondi381 ↔ 395By similarity
Disulfide bondi397 ↔ 407By similarity
Disulfide bondi497 ↔ 510By similarity
Disulfide bondi525 ↔ 534By similarity
Glycosylationi549N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

N-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P14222

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P14222

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

More...PaxDbi		P14222

PeptideAtlas

More...PeptideAtlasi		P14222

PRoteomics IDEntifications database

More...PRIDEi		P14222

ProteomicsDB human proteome resource

More...ProteomicsDBi		53040

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P14222

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

More...PhosphoSitePlusi		P14222

<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 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

Repressed by contact with target cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000180644 Expressed in 170 organ(s), highest expression level in mononuclear cell

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P14222 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P14222 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB002436
HPA037940

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer, as soluble protein. Homooligomer. Oligomerization is required for pore formation.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111542, 5 interactors

Database of interacting proteins

More...DIPi		DIP-53288N

Protein interaction database and analysis system

More...IntActi		P14222, 7 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000398568

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P14222

<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

3D structure databases

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

More...SMRi		P14222

Database of comparative protein structure models

More...ModBasei		Search...

<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_and_domains_section">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>Domaini27 – 375MACPFPROSITE-ProRule annotationAdd BLAST349
Domaini376 – 408EGF-likeAdd BLAST33
Domaini416 – 498C2PROSITE-ProRule annotationAdd BLAST83

<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 C2 domain mediates calcium-dependent binding to lipid membranes. A subsequent conformation change leads to membrane insertion of beta-hairpin structures and pore formation. The pore is formed by transmembrane beta-strands.

<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 complement C6/C7/C8/C9 family.Curated

Keywords - Domaini

EGF-like domain, Signal, Transmembrane, Transmembrane beta strand

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IGJ0 Eukaryota
ENOG410XSHK LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00530000063725

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000236309

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P14222

KEGG Orthology (KO)

More...KOi		K07818

Identification of Orthologs from Complete Genome Data

More...OMAi		NYGTHFI

Database of Orthologous Groups

More...OrthoDBi		543832at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P14222

TreeFam database of animal gene trees

More...TreeFami		TF330498

Family and domain databases

Conserved Domains Database

More...CDDi		cd04032 C2_Perforin, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.150, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR020864 MACPF
IPR020863 MACPF_CS
IPR037300 Perforin-1_C2

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00168 C2, 1 hit
PF01823 MACPF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00239 C2, 1 hit
SM00457 MACPF, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50004 C2, 1 hit
PS00279 MACPF_1, 1 hit
PS51412 MACPF_2, 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_length">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>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P14222-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAARLLLLGI LLLLLPLPVP APCHTAARSE CKRSHKFVPG AWLAGEGVDV 
        60         70         80         90        100
TSLRRSGSFP VDTQRFLRPD GTCTLCENAL QEGTLQRLPL ALTNWRAQGS 
       110        120        130        140        150
GCQRHVTRAK VSSTEAVARD AARSIRNDWK VGLDVTPKPT SNVHVSVAGS 
       160        170        180        190        200
HSQAANFAAQ KTHQDQYSFS TDTVECRFYS FHVVHTPPLH PDFKRALGDL 
       210        220        230        240        250
PHHFNASTQP AYLRLISNYG THFIRAVELG GRISALTALR TCELALEGLT 
       260        270        280        290        300
DNEVEDCLTV EAQVNIGIHG SISAEAKACE EKKKKHKMTA SFHQTYRERH 
       310        320        330        340        350
SEVVGGHHTS INDLLFGIQA GPEQYSAWVN SLPGSPGLVD YTLEPLHVLL 
       360        370        380        390        400
DSQDPRREAL RRALSQYLTD RARWRDCSRP CPPGRQKSPR DPCQCVCHGS 
       410        420        430        440        450
AVTTQDCCPR QRGLAQLEVT FIQAWGLWGD WFTATDAYVK LFFGGQELRT 
       460        470        480        490        500
STVWDNNNPI WSVRLDFGDV LLATGGPLRL QVWDQDSGRD DDLLGTCDQA 
       510        520        530        540        550
PKSGSHEVRC NLNHGHLKFR YHARCLPHLG GGTCLDYVPQ MLLGEPPGNR 

SGAVW
Length:555
Mass (Da):61,377
Last modified:January 1, 1990 - 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:iDDEDE0D1CAB7586E
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PR25A0A1W2PR25_HUMAN
Perforin-1
PRF1
232Annotation 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 conflicti332L → V in CAA31612 (PubMed:3419519).Curated1
Sequence conflicti426G → S in CAA31612 (PubMed:3419519).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0615044R → H. Corresponds to variant dbSNP:rs35418374EnsemblClinVar.1
Natural variantiVAR_01077250V → M in FHL2. 1 PublicationCorresponds to variant dbSNP:rs776299562Ensembl.1
Natural variantiVAR_05048291A → V. Corresponds to variant dbSNP:rs35947132EnsemblClinVar.1
Natural variantiVAR_010773123R → H1 PublicationCorresponds to variant dbSNP:rs139336186Ensembl.1
Natural variantiVAR_029773135V → M. Corresponds to variant dbSNP:rs12263572EnsemblClinVar.1
Natural variantiVAR_010744183V → G in FHL2. 1 PublicationCorresponds to variant dbSNP:rs104894183EnsemblClinVar.1
Natural variantiVAR_010774224I → N in FHL2. 1 Publication1
Natural variantiVAR_010745225R → W in FHL2. 1 PublicationCorresponds to variant dbSNP:rs28933973EnsemblClinVar.1
Natural variantiVAR_010746252N → S in FHL2. 1 PublicationCorresponds to variant dbSNP:rs28933375EnsemblClinVar.1
Natural variantiVAR_010747279C → Y in FHL2. 1 PublicationCorresponds to variant dbSNP:rs104894182EnsemblClinVar.1
Natural variantiVAR_010775285Missing in FHL2. 1 Publication1
Natural variantiVAR_010748345P → L in FHL2. 1 PublicationCorresponds to variant dbSNP:rs28933374EnsemblClinVar.1
Natural variantiVAR_010749429G → E in FHL2. 1 PublicationCorresponds to variant dbSNP:rs104894181EnsemblClinVar.1

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
X13224 mRNA Translation: CAA31612.1
M28393 mRNA Translation: AAA60065.1
M31951 Genomic DNA Translation: AAA60167.1
AK312754 mRNA Translation: BAG35621.1
AL355344 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54407.1
BC047695 mRNA Translation: AAH47695.2
BC063043 mRNA Translation: AAH63043.1
AB209604 mRNA Translation: BAD92841.1
L40557 mRNA Translation: AAA63618.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7305.1

Protein sequence database of the Protein Information Resource

More...PIRi		A45816 A37181

NCBI Reference Sequences

More...RefSeqi		NP_001076585.1, NM_001083116.1
NP_005032.2, NM_005041.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000373209; ENSP00000362305; ENSG00000180644
ENST00000441259; ENSP00000398568; ENSG00000180644

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5551

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5551

UCSC genome browser

More...UCSCi		uc001jrf.5 human

Keywords - Coding sequence diversityi

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

PRF1base

PRF1 mutation db

Wikipedia

Perforin entry

Protein Spotlight

Our hollow architecture - Issue 126 of February 2011

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X13224 mRNA Translation: CAA31612.1
M28393 mRNA Translation: AAA60065.1
M31951 Genomic DNA Translation: AAA60167.1
AK312754 mRNA Translation: BAG35621.1
AL355344 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54407.1
BC047695 mRNA Translation: AAH47695.2
BC063043 mRNA Translation: AAH63043.1
AB209604 mRNA Translation: BAD92841.1
L40557 mRNA Translation: AAA63618.1
CCDSiCCDS7305.1
PIRiA45816 A37181
RefSeqiNP_001076585.1, NM_001083116.1
NP_005032.2, NM_005041.4

3D structure databases

SMRiP14222
ModBaseiSearch...

Protein-protein interaction databases

BioGridi111542, 5 interactors
DIPiDIP-53288N
IntActiP14222, 7 interactors
STRINGi9606.ENSP00000398568

Chemistry databases

BindingDBiP14222
ChEMBLiCHEMBL5480

Protein family/group databases

TCDBi1.C.39.2.8 the membrane attack complex/perforin (macpf) family

PTM databases

iPTMnetiP14222
PhosphoSitePlusiP14222

Polymorphism and mutation databases

BioMutaiPRF1
DMDMi129819

Proteomic databases

jPOSTiP14222
MassIVEiP14222
PaxDbiP14222
PeptideAtlasiP14222
PRIDEiP14222
ProteomicsDBi53040

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373209; ENSP00000362305; ENSG00000180644
ENST00000441259; ENSP00000398568; ENSG00000180644
GeneIDi5551
KEGGihsa:5551
UCSCiuc001jrf.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5551
DisGeNETi5551

GeneCards: human genes, protein and diseases

More...GeneCardsi		PRF1
GeneReviewsiPRF1
HGNCiHGNC:9360 PRF1
HPAiCAB002436
HPA037940
MalaCardsiPRF1
MIMi170280 gene
603553 phenotype
neXtProtiNX_P14222
OpenTargetsiENSG00000180644
Orphaneti540 Familial hemophagocytic lymphohistiocytosis
391343 Fatal post-viral neurodegenerative disorder
88 Idiopathic aplastic anemia
PharmGKBiPA33732

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IGJ0 Eukaryota
ENOG410XSHK LUCA
GeneTreeiENSGT00530000063725
HOGENOMiHOG000236309
InParanoidiP14222
KOiK07818
OMAiNYGTHFI
OrthoDBi543832at2759
PhylomeDBiP14222
TreeFamiTF330498

Enzyme and pathway databases

SIGNORiP14222

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Perforin

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

More...GenomeRNAii		5551

Pharos

More...Pharosi		P14222

Protein Ontology

More...PROi		PR:P14222

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000180644 Expressed in 170 organ(s), highest expression level in mononuclear cell
ExpressionAtlasiP14222 baseline and differential
GenevisibleiP14222 HS

Family and domain databases

CDDicd04032 C2_Perforin, 1 hit
Gene3Di2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR020864 MACPF
IPR020863 MACPF_CS
IPR037300 Perforin-1_C2
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF01823 MACPF, 1 hit
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00457 MACPF, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 1 hit
PS00279 MACPF_1, 1 hit
PS51412 MACPF_2, 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 nameiPERF_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: P14222
Secondary accession number(s): B2R6X4, Q59F57, Q86WX7
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: January 1, 1990
Last modified: September 18, 2019
This is version 201 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  3. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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