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UniProtKB - Q9P212 (PLCE1_HUMAN)

Entry version 174 (22 Apr 2020)
Sequence version 3 (31 Oct 2006)
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Protein

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1

Gene

PLCE1

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

The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine-exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation. In podocytes, is involved in the regulation of lamellipodia formation. Acts downtream of AVIL to allow ARP2/3 complex assembly (PubMed:29058690).8 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<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

Ca2+1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by the heterotrimeric G-protein subunits GNA12, GNA13 and GNB1-GNG2. Activated by HRAS, RAP1A, RHOA, RHOB, RHOC, RRAS and RRAS2. Activated by the G(s)-coupled GPCRs ADRB2, PTGER1 and CHRM3 through cyclic-AMP formation and RAP2B activation. Inhibited by G(i)-coupled GPCRs.6 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 sitei1407PROSITE-ProRule annotation1
Active sitei1452PROSITE-ProRule annotation1

<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 functionGuanine-nucleotide releasing factor, Hydrolase, Transducer
Biological processLipid degradation, Lipid metabolism
LigandCalcium, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS06473-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.1.4.11 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9P212

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000000663

<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:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 (EC:3.1.4.11)
Alternative name(s):
Pancreas-enriched phospholipase C
Phosphoinositide phospholipase C-epsilon-1
Phospholipase C-epsilon-1
Short name:
PLC-epsilon-1
<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:PLCE1
Synonyms:KIAA1516, PLCE, PPLC
<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 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:17175 PLCE1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608414 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9P212

<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, Cell projection, Cytoplasm, Golgi apparatus, Membrane

<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

Nephrotic syndrome 3 (NPHS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen.
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_0298831484S → L in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis. 1 PublicationCorresponds to variant dbSNP:rs121912605EnsemblClinVar.1

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>Mutagenesisi1452H → L: Loss of the phospholipase C enzymatic activity. Still activates HRAS and the MAP kinase pathway. 1 Publication1
Mutagenesisi2140Q → E: Increases 2.8-fold the affinity for HRAS. 1 Publication1
Mutagenesisi2148Q → E: Decreases 17.5-fold the affinity for HRAS. 1 Publication1
Mutagenesisi2148Q → K: Increases 1.4-fold the affinity for HRAS. 1 Publication1
Mutagenesisi2150R → L: Abolishes interaction with HRAS. 1 Publication1
Mutagenesisi2171K → L: No effect on HRAS-binding. 1 Publication1
Mutagenesisi2174Y → L: Reduces HRAS-binding. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		51196

MalaCards human disease database

More...MalaCardsi		PLCE1
MIMi610725 phenotype

Open Targets

More...OpenTargetsi		ENSG00000138193

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

More...Orphaneti		656 Genetic steroid-resistant nephrotic syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33391

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9P212 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PLCE1

Domain mapping of disease mutations (DMDM)

More...DMDMi		118595723

<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_00002562381 – 23021-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1Add BLAST2302

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 residuei1096PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9P212

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9P212

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9P212

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

More...PaxDbi		Q9P212

PeptideAtlas

More...PeptideAtlasi		Q9P212

PRoteomics IDEntifications database

More...PRIDEi		Q9P212

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		83705 [Q9P212-1]
83706 [Q9P212-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9P212

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

More...PhosphoSitePlusi		Q9P212

<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

Widely expressed. Expressed in podocytes (PubMed:29058690).2 Publications
Broadly expressed and only absent in peripheral blood leukocytes.2 Publications
Specifically expressed in placenta, lung and spleen.2 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

Overexpressed during heart failure.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000138193 Expressed in metanephric glomerulus and 214 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9P212 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000138193 Tissue enhanced (retina)

<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 with RHOA (By similarity).

Interacts with GTP-bound HRAS, RAP1A, RAP2A, RAP2B and RRAS (PubMed:11022048, PubMed:12444546, PubMed:16483931, PubMed:16537651).

Interacts with AVIL (PubMed:29058690).

Interacts with IQGAP1 (PubMed:17086182).

By similarity6 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		119370, 7 interactors

Protein interaction database and analysis system

More...IntActi		Q9P212, 4 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000360431

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9P212 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

12302
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9P212

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		Q9P212

<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>Domaini531 – 790Ras-GEFPROSITE-ProRule annotationAdd BLAST260
Domaini1392 – 1540PI-PLC X-boxPROSITE-ProRule annotationAdd BLAST149
Domaini1730 – 1846PI-PLC Y-boxPROSITE-ProRule annotationAdd BLAST117
Domaini1851 – 1976C2PROSITE-ProRule annotationAdd BLAST126
Domaini2012 – 2114Ras-associating 1PROSITE-ProRule annotationAdd BLAST103
Domaini2135 – 2238Ras-associating 2PROSITE-ProRule annotationAdd BLAST104

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>Regioni1686 – 1764Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gammaBy similarityAdd BLAST79

<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 Ras-associating domain 1 is degenerated and may not bind HRAS. The Ras-associating domain 2 mediates interaction with GTP-bound HRAS, RAP1A, RAP2A and RAP2B and recruitment of HRAS to the cell membrane.
The Ras-GEF domain has a GEF activity towards HRAS and RAP1A. Mediates activation of the mitogen-activated protein kinase pathway.

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0169 Eukaryota
ENOG410XPSW LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157356

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001158_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9P212

KEGG Orthology (KO)

More...KOi		K05860

Identification of Orthologs from Complete Genome Data

More...OMAi		NMEPAIY

Database of Orthologous Groups

More...OrthoDBi		368239at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9P212

TreeFam database of animal gene trees

More...TreeFami		TF314432

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.150, 1 hit
3.20.20.190, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR011992 EF-hand-dom_pair
IPR001192 PI-PLC_fam
IPR028398 PLC-epsilon1
IPR017946 PLC-like_Pdiesterase_TIM-brl
IPR015359 PLC_EF-hand-like
IPR000909 PLipase_C_PInositol-sp_X_dom
IPR001711 PLipase_C_Pinositol-sp_Y
IPR000159 RA_dom
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR029071 Ubiquitin-like_domsf

The PANTHER Classification System

More...PANTHERi		PTHR10336 PTHR10336, 1 hit
PTHR10336:SF6 PTHR10336:SF6, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00168 C2, 1 hit
PF09279 EF-hand_like, 1 hit
PF00388 PI-PLC-X, 1 hit
PF00387 PI-PLC-Y, 1 hit
PF00788 RA, 1 hit
PF00617 RasGEF, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00390 PHPHLIPASEC

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00239 C2, 1 hit
SM00148 PLCXc, 1 hit
SM00149 PLCYc, 1 hit
SM00314 RA, 1 hit
SM00147 RasGEF, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47473 SSF47473, 1 hit
SSF48366 SSF48366, 1 hit
SSF51695 SSF51695, 1 hit
SSF54236 SSF54236, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50004 C2, 1 hit
PS50007 PIPLC_X_DOMAIN, 1 hit
PS50008 PIPLC_Y_DOMAIN, 1 hit
PS50200 RA, 1 hit
PS50009 RASGEF_CAT, 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 (2)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 2 <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
Isoform 1 (identifier: Q9P212-1) [UniParc]FASTAAdd to basket
Also known as: PLCepsilon1a

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
MTSEEMTASV LIPVTQRKVV SAQSAADESS EKVSDINISK AHTVRRSGET 
        60         70         80         90        100
SHTISQLNKL KEEPSGSNLP KILSIAREKI VSDENSNEKC WEKIMPDSAK 
       110        120        130        140        150
NLNINCNNIL RNHQHGLPQR QFYEMYNSVA EEDLCLETGI PSPLERKVFP 
       160        170        180        190        200
GIQLELDRPS MGISPLGNQS VIIETGRAHP DSRRAVFHFH YEVDRRMSDT 
       210        220        230        240        250
FCTLSENLIL DDCGNCVPLP GGEEKQKKNY VAYTCKLMEL AKNCDNKNEQ 
       260        270        280        290        300
LQCDHCDTLN DKYFCFEGSC EKVDMVYSGD SFCRKDFTDS QAAKTFLSHF 
       310        320        330        340        350
EDFPDNCDDV EEDAFKSKKE RSTLLVRRFC KNDREVKKSV YTGTRAIVRT 
       360        370        380        390        400
LPSGHIGLTA WSYIDQKRNG PLLPCGRVME PPSTVEIRQD GSQRLSEAQW 
       410        420        430        440        450
YPIYNAVRRE ETENTVGSLL HFLTKLPASE TAHGRISVGP CLKQCVRDTV 
       460        470        480        490        500
CEYRATLQRT SISQYITGSL LEATTSLGAR SGLLSTFGGS TGRMMLKERQ 
       510        520        530        540        550
PGPSVANSNA LPSSSAGISK ELIDLQPLIQ FPEEVASILM EQEQTIYRRV 
       560        570        580        590        600
LPVDYLCFLT RDLGTPECQS SLPCLKASIS ASILTTQNGE HNALEDLVMR 
       610        620        630        640        650
FNEVSSWVTW LILTAGSMEE KREVFSYLVH VAKCCWNMGN YNAVMEFLAG 
       660        670        680        690        700
LRSRKVLKMW QFMDQSDIET MRSLKDAMAQ HESSCEYRKV VTRALHIPGC 
       710        720        730        740        750
KVVPFCGVFL KELCEVLDGA SGLMKLCPRY NSQEETLEFV ADYSGQDNFL 
       760        770        780        790        800
QRVGQNGLKN SEKESTVNSI FQVIRSCNRS LETDEEDSPS EGNSSRKSSL 
       810        820        830        840        850
KDKSRWQFII GDLLDSDNDI FEQSKEYDSH GSEDSQKAFD HGTELIPWYV 
       860        870        880        890        900
LSIQADVHQF LLQGATVIHY DQDTHLSARC FLQLQPDNST LTWVKPTTAS 
       910        920        930        940        950
PASSKAKLGV LNNTAEPGKF PLLGNAGLSS LTEGVLDLFA VKAVYMGHPG 
       960        970        980        990       1000
IDIHTVCVQN KLGSMFLSET GVTLLYGLQT TDNRLLHFVA PKHTAKMLFS 
      1010       1020       1030       1040       1050
GLLELTRAVR KMRKFPDQRQ QWLRKQYVSL YQEDGRYEGP TLAHAVELFG 
      1060       1070       1080       1090       1100
GRRWSARNPS PGTSAKNAEK PNMQRNNTLG ISTTKKKKKI LMRGESGEVT 
      1110       1120       1130       1140       1150
DDEMATRKAK MHKECRSRSG SDPQDINEQE ESEVNAIANP PNPLPSRRAH 
      1160       1170       1180       1190       1200
SLTTAGSPNL AAGTSSPIRP VSSPVLSSSN KSPSSAWSSS SWHGRIKGGM 
      1210       1220       1230       1240       1250
KGFQSFMVSD SNMSFVEFVE LFKSFSVRSR KDLKDLFDVY AVPCNRSGSE 
      1260       1270       1280       1290       1300
SAPLYTNLTI DENTSDLQPD LDLLTRNVSD LGLFIKSKQQ LSDNQRQISD 
      1310       1320       1330       1340       1350
AIAAASIVTN GTGIESTSLG IFGVGILQLN DFLVNCQGEH CTYDEILSII 
      1360       1370       1380       1390       1400
QKFEPSISMC HQGLMSFEGF ARFLMDKENF ASKNDESQEN IKELQLPLSY 
      1410       1420       1430       1440       1450
YYIESSHNTY LTGHQLKGES SVELYSQVLL QGCRSVELDC WDGDDGMPII 
      1460       1470       1480       1490       1500
YHGHTLTTKI PFKEVVEAID RSAFINSDLP IIISIENHCS LPQQRKMAEI 
      1510       1520       1530       1540       1550
FKTVFGEKLV TKFLFETDFS DDPMLPSPDQ LRKKVLLKNK KLKAHQTPVD 
      1560       1570       1580       1590       1600
ILKQKAHQLA SMQVQAYNGG NANPRPANNE EEEDEEDEYD YDYESLSDDN 
      1610       1620       1630       1640       1650
ILEDRPENKS CNDKLQFEYN EEIPKRIKKA DNSACNKGKV YDMELGEEFY 
      1660       1670       1680       1690       1700
LDQNKKESRQ IAPELSDLVI YCQAVKFPGL STLNASGSSR GKERKSRKSI 
      1710       1720       1730       1740       1750
FGNNPGRMSP GETASFNKTS GKSSCEGIRQ TWEESSSPLN PTTSLSAIIR 
      1760       1770       1780       1790       1800
TPKCYHISSL NENAAKRLCR RYSQKLTQHT ACQLLRTYPA ATRIDSSNPN 
      1810       1820       1830       1840       1850
PLMFWLHGIQ LVALNYQTDD LPLHLNAAMF EANGGCGYVL KPPVLWDKNC 
      1860       1870       1880       1890       1900
PMYQKFSPLE RDLDSMDPAV YSLTIVSGQN VCPSNSMGSP CIEVDVLGMP 
      1910       1920       1930       1940       1950
LDSCHFRTKP IHRNTLNPMW NEQFLFHVHF EDLVFLRFAV VENNSSAVTA 
      1960       1970       1980       1990       2000
QRIIPLKALK RGYRHLQLRN LHNEVLEISS LFINSRRMEE NSSGNTMSAS 
      2010       2020       2030       2040       2050
SMFNTEERKC LQTHRVTVHG VPGPEPFTVF TINGGTKAKQ LLQQILTNEQ 
      2060       2070       2080       2090       2100
DIKPVTTDYF LMEEKYFISK EKNECRKQPF QRAIGPEEEI MQILSSWFPE 
      2110       2120       2130       2140       2150
EGYMGRIVLK TQQENLEEKN IVQDDKEVIL SSEEESFFVQ VHDVSPEQPR 
      2160       2170       2180       2190       2200
TVIKAPRVST AQDVIQQTLC KAKYSYSILS NPNPSDYVLL EEVVKDTTNK 
      2210       2220       2230       2240       2250
KTTTPKSSQR VLLDQECVFQ AQSKWKGAGK FILKLKEQVQ ASREDKKKGI 
      2260       2270       2280       2290       2300
SFASELKKLT KSTKQPRGLT SPSQLLTSES IQTKEEKPVG GLSSSDTMDY 

RQ
Length:2,302
Mass (Da):258,715
Last modified:October 31, 2006 - v3
<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:i71DDE446277077A3
GO
Isoform 2 (identifier: Q9P212-2) [UniParc]FASTAAdd to basket
Also known as: PLCepsilon1b

The sequence of this isoform differs from the canonical sequence as follows:
     1-308: Missing.
     309-402: DVEEDAFKSK...QRLSEAQWYP → MVSEGSAAGR...CGCWRLKEDQ

Show »
Length:1,994
Mass (Da):223,872
Checksum:i069358CFA0D7A1CD
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF22005 differs from that shown. Reason: Frameshift.Curated
The sequence AAG17145 differs from that shown. Reason: Frameshift.Curated
The sequence BAA96040 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB14090 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti502G → S in AAG28341 (PubMed:11022047).Curated1
Sequence conflicti703V → F in AAG28341 (PubMed:11022047).Curated1
Sequence conflicti1133E → K in AAG28341 (PubMed:11022047).Curated1
Sequence conflicti1229 – 1230SR → QA in AAF22005 (Ref. 8) Curated2
Sequence conflicti1456L → P in AAG17145 (PubMed:11022048).Curated1
Sequence conflicti1571N → D in BAB14090 (PubMed:14702039).Curated1
Sequence conflicti1575R → Q in AAG28341 (PubMed:11022047).Curated1
Sequence conflicti1672C → R in AAG17145 (PubMed:11022048).Curated1
Sequence conflicti1705P → L in BAB14090 (PubMed:14702039).Curated1
Sequence conflicti2125D → G in BAB14090 (PubMed:14702039).Curated1
Isoform 2 (identifier: Q9P212-2)
Sequence conflicti69L → P in AAG28341 (PubMed:11022047).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031843469S → T. Corresponds to variant dbSNP:rs17508082EnsemblClinVar.1
Natural variantiVAR_031844548R → L. Corresponds to variant dbSNP:rs17417407EnsemblClinVar.1
Natural variantiVAR_0298831484S → L in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis. 1 PublicationCorresponds to variant dbSNP:rs121912605EnsemblClinVar.1
Natural variantiVAR_0318451575R → P. Corresponds to variant dbSNP:rs2274224EnsemblClinVar.1
Natural variantiVAR_0318461777T → I2 PublicationsCorresponds to variant dbSNP:rs3765524EnsemblClinVar.1
Natural variantiVAR_0318471927H → R4 PublicationsCorresponds to variant dbSNP:rs2274223EnsemblClinVar.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_0213351 – 308Missing in isoform 2. 2 PublicationsAdd BLAST308
Alternative sequenceiVSP_021336309 – 402DVEED…AQWYP → MVSEGSAAGRDFAGMEEVRQ LHVRFCKGIKIWHQAWFLCS LLGREPQEREAGCQLWLCTL SAVLKVGWLFPLSEVPNFTL LKDGCGCWRLKEDQ in isoform 2. 2 PublicationsAdd BLAST94

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
AF190642 mRNA Translation: AAG17145.2 Frameshift.
AF170071 mRNA Translation: AAG28341.1
AB040949 mRNA Translation: BAA96040.2 Different initiation.
AL139118 Genomic DNA No translation available.
AL139124 Genomic DNA No translation available.
AL365510 Genomic DNA No translation available.
AL389885 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50042.1
CH471066 Genomic DNA Translation: EAW50043.1
BC140705 mRNA Translation: AAI40706.1
BC151854 mRNA Translation: AAI51855.1
AF117948 mRNA Translation: AAF22005.1 Frameshift.
AK022543 mRNA Translation: BAB14090.1 Different initiation.
AK289852 mRNA Translation: BAF82541.1
AY995135 mRNA Translation: AAY45890.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41552.1 [Q9P212-1]
CCDS53555.1 [Q9P212-2]

NCBI Reference Sequences

More...RefSeqi		NP_001159451.1, NM_001165979.2 [Q9P212-2]
NP_001275918.1, NM_001288989.1
NP_057425.3, NM_016341.3 [Q9P212-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000371375; ENSP00000360426; ENSG00000138193 [Q9P212-2]
ENST00000371380; ENSP00000360431; ENSG00000138193 [Q9P212-1]
ENST00000371385; ENSP00000360438; ENSG00000138193 [Q9P212-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51196

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51196

UCSC genome browser

More...UCSCi		uc001kjk.4 human [Q9P212-1]

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
AF190642 mRNA Translation: AAG17145.2 Frameshift.
AF170071 mRNA Translation: AAG28341.1
AB040949 mRNA Translation: BAA96040.2 Different initiation.
AL139118 Genomic DNA No translation available.
AL139124 Genomic DNA No translation available.
AL365510 Genomic DNA No translation available.
AL389885 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50042.1
CH471066 Genomic DNA Translation: EAW50043.1
BC140705 mRNA Translation: AAI40706.1
BC151854 mRNA Translation: AAI51855.1
AF117948 mRNA Translation: AAF22005.1 Frameshift.
AK022543 mRNA Translation: BAB14090.1 Different initiation.
AK289852 mRNA Translation: BAF82541.1
AY995135 mRNA Translation: AAY45890.1
CCDSiCCDS41552.1 [Q9P212-1]
CCDS53555.1 [Q9P212-2]
RefSeqiNP_001159451.1, NM_001165979.2 [Q9P212-2]
NP_001275918.1, NM_001288989.1
NP_057425.3, NM_016341.3 [Q9P212-1]

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
2BYENMR-A2006-2114[»]
2BYFNMR-A2131-2246[»]
2C5LX-ray1.90C/D2131-2246[»]
SMRiQ9P212
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi119370, 7 interactors
IntActiQ9P212, 4 interactors
STRINGi9606.ENSP00000360431

Chemistry databases

SwissLipidsiSLP:000000663

PTM databases

iPTMnetiQ9P212
PhosphoSitePlusiQ9P212

Polymorphism and mutation databases

BioMutaiPLCE1
DMDMi118595723

Proteomic databases

EPDiQ9P212
jPOSTiQ9P212
MassIVEiQ9P212
PaxDbiQ9P212
PeptideAtlasiQ9P212
PRIDEiQ9P212
ProteomicsDBi83705 [Q9P212-1]
83706 [Q9P212-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2889 44 antibodies

Genome annotation databases

EnsembliENST00000371375; ENSP00000360426; ENSG00000138193 [Q9P212-2]
ENST00000371380; ENSP00000360431; ENSG00000138193 [Q9P212-1]
ENST00000371385; ENSP00000360438; ENSG00000138193 [Q9P212-2]
GeneIDi51196
KEGGihsa:51196
UCSCiuc001kjk.4 human [Q9P212-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51196
DisGeNETi51196

GeneCards: human genes, protein and diseases

More...GeneCardsi		PLCE1
HGNCiHGNC:17175 PLCE1
HPAiENSG00000138193 Tissue enhanced (retina)
MalaCardsiPLCE1
MIMi608414 gene
610725 phenotype
neXtProtiNX_Q9P212
OpenTargetsiENSG00000138193
Orphaneti656 Genetic steroid-resistant nephrotic syndrome
PharmGKBiPA33391

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0169 Eukaryota
ENOG410XPSW LUCA
GeneTreeiENSGT00940000157356
HOGENOMiCLU_001158_0_0_1
InParanoidiQ9P212
KOiK05860
OMAiNMEPAIY
OrthoDBi368239at2759
PhylomeDBiQ9P212
TreeFamiTF314432

Enzyme and pathway databases

BioCyciMetaCyc:HS06473-MONOMER
BRENDAi3.1.4.11 2681
ReactomeiR-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
SIGNORiQ9P212

Miscellaneous databases

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

More...ChiTaRSi		PLCE1 human
EvolutionaryTraceiQ9P212

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PLCE1

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

More...GenomeRNAii		51196
PharosiQ9P212 Tbio

Protein Ontology

More...PROi		PR:Q9P212
RNActiQ9P212 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000138193 Expressed in metanephric glomerulus and 214 other tissues
GenevisibleiQ9P212 HS

Family and domain databases

Gene3Di2.60.40.150, 1 hit
3.20.20.190, 2 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR011992 EF-hand-dom_pair
IPR001192 PI-PLC_fam
IPR028398 PLC-epsilon1
IPR017946 PLC-like_Pdiesterase_TIM-brl
IPR015359 PLC_EF-hand-like
IPR000909 PLipase_C_PInositol-sp_X_dom
IPR001711 PLipase_C_Pinositol-sp_Y
IPR000159 RA_dom
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR029071 Ubiquitin-like_domsf
PANTHERiPTHR10336 PTHR10336, 1 hit
PTHR10336:SF6 PTHR10336:SF6, 1 hit
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF09279 EF-hand_like, 1 hit
PF00388 PI-PLC-X, 1 hit
PF00387 PI-PLC-Y, 1 hit
PF00788 RA, 1 hit
PF00617 RasGEF, 1 hit
PRINTSiPR00390 PHPHLIPASEC
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00148 PLCXc, 1 hit
SM00149 PLCYc, 1 hit
SM00314 RA, 1 hit
SM00147 RasGEF, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
SSF48366 SSF48366, 1 hit
SSF51695 SSF51695, 1 hit
SSF54236 SSF54236, 2 hits
PROSITEiView protein in PROSITE
PS50004 C2, 1 hit
PS50007 PIPLC_X_DOMAIN, 1 hit
PS50008 PIPLC_Y_DOMAIN, 1 hit
PS50200 RA, 1 hit
PS50009 RASGEF_CAT, 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 nameiPLCE1_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: Q9P212
Secondary accession number(s): A6NGW0
, A6NLA1, A7MBN7, A8K1D7, B9EIJ6, Q1X6H8, Q5VWL4, Q5VWL5, Q9H9X8, Q9HBX6, Q9HC53, Q9UHV3
<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: October 31, 2006
Last sequence update: October 31, 2006
Last modified: April 22, 2020
This is version 174 of the entry and version 3 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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