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UniProtKB - Q494U1 (PKHN1_HUMAN)

Entry version 129 (23 Feb 2022)
Sequence version 3 (10 Oct 2018)
Previous versions | rss
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Protein

Pleckstrin homology domain-containing family N member 1

Gene

PLEKHN1

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

Controls the stability of the leptin mRNA harboring an AU-rich element (ARE) in its 3' UTR, in cooperation with the RNA stabilizer ELAVL1 (PubMed:29180010).

Decreases the stability of the leptin mRNA by antagonizing the function of ELAVL1 by inducing its atypical recruitment from the nucleus to the cytosol (By similarity).

Binds to cardiolipin (CL), phosphatidic acid (PA), phosphatidylinositol 4-phosphate (PtdIns4P) and phosphatidylserine (PS) (PubMed:18191643).

Promotes apoptosis by enhancing BAX-BAK hetero-oligomerization via interaction with BID in colon cancer cells (PubMed:29531808) (By similarity).

By similarity3 Publications

<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 ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q494U1

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q494U1

<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:
Pleckstrin homology domain-containing family N member 1
Short name:
PH domain-containing family N member 1
Alternative name(s):
Cardiolipin and phosphatidic acid-binding protein2 Publications
<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:PLEKHN1
Synonyms:CLPABP2 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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25284, PLEKHN1

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q494U1

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000187583

<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

<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>Keywords - Cellular componenti

Cell membrane, Membrane, Mitochondrion

<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

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>Mutagenesisi2G → A: Loss of myristoylation, reduced protein stability, morphological alterations in mitochondria but no effect on its mitochondrial localization. Loss of cell membrane localization leading to localization to intracellular organelles. 2 Publications1
Mutagenesisi302Y → F: Loss of phosphorylation and interaction with C1QBP; when associated with F-456. 1 Publication1
Mutagenesisi456Y → F: Loss of phosphorylation and interaction with C1QBP; when associated with F-302. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		84069

Open Targets

More...OpenTargetsi		ENSG00000187583

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671166

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q494U1, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PLEKHN1

Domain mapping of disease mutations (DMDM)

More...DMDMi		160419245

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved2 Publications
<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_00003093632 – 611Pleckstrin homology domain-containing family N member 1Add BLAST610

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycine2 Publications1
<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 residuei302Phosphotyrosine1 Publication1
Modified residuei456Phosphotyrosine1 Publication1
Modified residuei559PhosphoserineCombined sources1

<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

Phosphorylation is essential for its mitochondrial localization and regulates its interaction with C1QBP.1 Publication

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q494U1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q494U1

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q494U1

PeptideAtlas

More...PeptideAtlasi		Q494U1

PRoteomics IDEntifications database

More...PRIDEi		Q494U1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		61938 [Q494U1-1]
61939 [Q494U1-2]
61940 [Q494U1-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q494U1

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

More...PhosphoSitePlusi		Q494U1

<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

Ubiquitous (PubMed:18191643). Epressed in several cancer cell lines of differing origin (PubMed:29531808).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

Up-regulated by hypoxia.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000187583, Expressed in lower esophagus mucosa and 145 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q494U1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q494U1, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000187583, Group enriched (esophagus, skin, vagina)

<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

Found in a complex with cytochrome c mRNA and various ribosomal proteins.

Interacts with C1QBP (PubMed:18191643).

Interacts with ELAVL1 (PubMed:18191643, PubMed:29531808).

Interacts with BID (PubMed:29531808).

2 Publications

<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
Q494U1
With#Exp.IntAct
CBY2 [Q8NA61]3EBI-10241513,EBI-741724
LPXN [O60711]3EBI-10241513,EBI-744222
LZTS2 [Q9BRK4]3EBI-10241513,EBI-741037
REL [Q04864]4EBI-10241513,EBI-307352
RFX6 [Q8HWS3]3EBI-10241513,EBI-746118
TAX1BP1 [Q86VP1]4EBI-10241513,EBI-529518
TCF4 [P15884]4EBI-10241513,EBI-533224
TP53BP2 - isoform 3 [Q13625-3]3EBI-10241513,EBI-10175039
TRAF1 [Q13077]4EBI-10241513,EBI-359224
TRIM27 [P14373]3EBI-10241513,EBI-719493
ankX [Q5ZXN6] from Legionella pneumophila subsp. pneumophila (strain Philadelphia 1 / ATCC 33152 / DSM 7513).7EBI-10241513,EBI-26359852
Isoform 3 [Q494U1-3]
With#Exp.IntAct
ABI2 - isoform 2 [Q9NYB9-2]3EBI-12014286,EBI-11096309
AKAP8L [Q9ULX6]3EBI-12014286,EBI-357530
ARID5A [Q03989]3EBI-12014286,EBI-948603
ATXN1 [P54253]6EBI-12014286,EBI-930964
CALCOCO2 [Q13137]3EBI-12014286,EBI-739580
CBY2 - isoform 2 [Q8NA61-2]3EBI-12014286,EBI-11524851
CYSRT1 [A8MQ03]3EBI-12014286,EBI-3867333
FHL5 [Q5TD97]3EBI-12014286,EBI-750641
HOXA1 [P49639]3EBI-12014286,EBI-740785
KRT31 [Q15323]3EBI-12014286,EBI-948001
KRT36 - isoform 2 [O76013-2]3EBI-12014286,EBI-11958506
KRT83 [P78385]3EBI-12014286,EBI-10221390
KRTAP19-6 [Q3LI70]3EBI-12014286,EBI-12805508
KRTAP6-2 [Q3LI66]3EBI-12014286,EBI-11962084
LPXN [O60711]3EBI-12014286,EBI-744222
MTUS2 - isoform 2 [Q5JR59-3]3EBI-12014286,EBI-11522433
NFKBID [Q8NI38]3EBI-12014286,EBI-10271199
NOTCH2NLC [P0DPK4]3EBI-12014286,EBI-22310682
PDLIM7 [Q9NR12]3EBI-12014286,EBI-350517
PIH1D1 [Q9NWS0]3EBI-12014286,EBI-357318
PPM1J [Q5JR12]3EBI-12014286,EBI-13292717
PPP1R16B [Q96T49]3EBI-12014286,EBI-10293968
PPP1R32 - isoform 2 [Q7Z5V6-2]3EBI-12014286,EBI-12000762
PRKAA2 [P54646]3EBI-12014286,EBI-1383852
PXN - isoform Alpha [P49023-2]3EBI-12014286,EBI-11954250
REL - isoform 2 [Q04864-2]3EBI-12014286,EBI-10829018
SORBS3 [O60504]3EBI-12014286,EBI-741237
TAX1BP1 [Q86VP1]3EBI-12014286,EBI-529518
TP53BP2 [Q05BL1]3EBI-12014286,EBI-11952721
TRAF1 [Q13077]3EBI-12014286,EBI-359224
TRIP6 [Q15654]3EBI-12014286,EBI-742327
USP54 - isoform 6 [Q70EL1-9]3EBI-12014286,EBI-11975223
WWOX - isoform 5 [Q9NZC7-5]3EBI-12014286,EBI-12040603
ZC4H2 [Q9NQZ6]3EBI-12014286,EBI-747993
ZNF438 [Q7Z4V0]3EBI-12014286,EBI-11962468
ZRANB1 [Q9UGI0]3EBI-12014286,EBI-527853

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123864, 54 interactors

Protein interaction database and analysis system

More...IntActi		Q494U1, 52 interactors

Molecular INTeraction database

More...MINTi		Q494U1

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000368720

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q494U1, 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

3D structure databases

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

More...SMRi		Q494U1

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%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>Domaini96 – 192PH 1Add BLAST97
Domaini222 – 319PH 2Add BLAST98

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>Regioni1 – 45DisorderedSequence analysisAdd BLAST45
Regioni61 – 100Interaction with C1QBP1 PublicationAdd BLAST40
Regioni323 – 424DisorderedSequence analysisAdd BLAST102
Regioni438 – 468DisorderedSequence analysisAdd BLAST31
Regioni483 – 611DisorderedSequence analysisAdd BLAST129

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi335 – 390Polar residuesSequence analysisAdd BLAST56
Compositional biasi438 – 455Polar residuesSequence analysisAdd BLAST18

<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

Both PH domains are essential for its mitochondrial localization.2 Publications

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QSRE, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000003618

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_031048_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q494U1

Identification of Orthologs from Complete Genome Data

More...OMAi		TSHHKIT

Database of Orthologous Groups

More...OrthoDBi		474079at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q494U1

TreeFam database of animal gene trees

More...TreeFami		TF316105

Family and domain databases

Conserved Domains Database

More...CDDi		cd13323, PH_PLEKHN1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.29.30, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
IPR042835, PLEKHN1
IPR037839, PLEKHN1_PH

The PANTHER Classification System

More...PANTHERi		PTHR46882, PTHR46882, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00233, PH, 2 hits

<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.

<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 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 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.<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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q494U1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MGNSHCVPQA PRRLRASFSR KPSLKGNRED SARMSAGLPG PEAARSGDAA 
        60         70         80         90        100
ANKLFHYIPG TDILDLENQR ENLEQPFLSV FKKGRRRVPV RNLGKVVHYA 
       110        120        130        140        150
KVQLRFQHSQ DVSDCYLELF PAHLYFQAHG SEGLTFQGLL PLTELSVCPL 
       160        170        180        190        200
EGSREHAFQI TGPLPAPLLV LCPSRAELDR WLYHLEKQTA LLGGPRRCHS 
       210        220        230        240        250
APPQRRLTRL RTASGHEPGG SAVCASRVKL QHLPAQEQWD RLLVLYPTSL 
       260        270        280        290        300
AIFSEELDGL CFKGELPLRA VHINLEEKEK QIRSFLIEGP LINTIRVVCA 
       310        320        330        340        350
SYEDYGHWLL CLRAVTHREG APPLPGAESF PGSQVMGSGR GSLSSGGQTS 
       360        370        380        390        400
WDSGCLAPPS TRTSHSLPES SVPSTVGCSS QHTPDQANSD RASIGRRRTE 
       410        420        430        440        450
LRRSGSSRSP GSKARAEGRG PVTPLHLDLT QLHRLSLESS PDAPDHTSET 
       460        470        480        490        500
SHSPLYADPY TPPATSHRRV TDVRGLEEFL SAMQSARGPT PSSPLPSVPV 
       510        520        530        540        550
SVPASDPRSC SSGPAGPYLL SKKGALQSRA AQRHRGSAKD GGPQPPDAPQ 
       560        570        580        590        600
LVSSAREGSP EPWLPLTDGR SPRRSRDPGY DHLWDETLSS SHQKCPQLGG 
       610 
PEASGGLVQW I
Length:611
Mass (Da):66,409
Last modified:October 10, 2018 - 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:i4163BA09DF9525C9
GO
Isoform 2 (identifier: Q494U1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     162-162: G → GVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAG
     204-204: Q → QGSCGDELPWTLQ

Show »
Length:663
Mass (Da):71,790
Checksum:iE6D476D8688DFFE8
GO
Isoform 3 (identifier: Q494U1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     204-204: Q → QGSCGDELPWTLQ
     385-431: Missing.

Show »
Length:576
Mass (Da):62,613
Checksum:i323FF81C7963CB97
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
J3KSM5J3KSM5_HUMAN
Pleckstrin homology domain-containi...
PLEKHN1
176Annotation 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 conflicti560P → S in AAI01388 (PubMed:15489334).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_036946487R → P1 PublicationCorresponds to variant dbSNP:rs3829740Ensembl.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_059838162G → GVWDASRAPRGTPDPGLGEG PALWLRSTCVYVCALSALPA G in isoform 2. 1 Publication1
Alternative sequenceiVSP_059839204Q → QGSCGDELPWTLQ in isoform 2 and isoform 3. 1 Publication1
Alternative sequenceiVSP_059840385 – 431Missing in isoform 3. 1 PublicationAdd BLAST47

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
AL136730 mRNA Translation: CAB66664.1
AL645608 Genomic DNA No translation available.
CH471183 Genomic DNA Translation: EAW56299.1
BC101386 mRNA Translation: AAI01387.1
BC101387 mRNA Translation: AAI01388.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4.1 [Q494U1-1]
CCDS53256.1 [Q494U1-3]

NCBI Reference Sequences

More...RefSeqi		NP_001153656.1, NM_001160184.1 [Q494U1-3]
NP_115505.2, NM_032129.2 [Q494U1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000379407; ENSP00000368717; ENSG00000187583 [Q494U1-3]
ENST00000379409; ENSP00000368719; ENSG00000187583 [Q494U1-2]
ENST00000379410; ENSP00000368720; ENSG00000187583

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84069

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84069

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000379410.8; ENSP00000368720.3; NM_032129.3; NP_115505.2

UCSC genome browser

More...UCSCi		uc001acd.4, human [Q494U1-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AL136730 mRNA Translation: CAB66664.1
AL645608 Genomic DNA No translation available.
CH471183 Genomic DNA Translation: EAW56299.1
BC101386 mRNA Translation: AAI01387.1
BC101387 mRNA Translation: AAI01388.1
CCDSiCCDS4.1 [Q494U1-1]
CCDS53256.1 [Q494U1-3]
RefSeqiNP_001153656.1, NM_001160184.1 [Q494U1-3]
NP_115505.2, NM_032129.2 [Q494U1-1]

3D structure databases

SMRiQ494U1
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123864, 54 interactors
IntActiQ494U1, 52 interactors
MINTiQ494U1
STRINGi9606.ENSP00000368720

PTM databases

iPTMnetiQ494U1
PhosphoSitePlusiQ494U1

Genetic variation databases

BioMutaiPLEKHN1
DMDMi160419245

Proteomic databases

jPOSTiQ494U1
MassIVEiQ494U1
MaxQBiQ494U1
PeptideAtlasiQ494U1
PRIDEiQ494U1
ProteomicsDBi61938 [Q494U1-1]
61939 [Q494U1-2]
61940 [Q494U1-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		51118, 10 antibodies from 6 providers

The DNASU plasmid repository

More...DNASUi		84069

Genome annotation databases

EnsembliENST00000379407; ENSP00000368717; ENSG00000187583 [Q494U1-3]
ENST00000379409; ENSP00000368719; ENSG00000187583 [Q494U1-2]
ENST00000379410; ENSP00000368720; ENSG00000187583
GeneIDi84069
KEGGihsa:84069
MANE-SelectiENST00000379410.8; ENSP00000368720.3; NM_032129.3; NP_115505.2
UCSCiuc001acd.4, human [Q494U1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84069
DisGeNETi84069

GeneCards: human genes, protein and diseases

More...GeneCardsi		PLEKHN1
HGNCiHGNC:25284, PLEKHN1
HPAiENSG00000187583, Group enriched (esophagus, skin, vagina)
neXtProtiNX_Q494U1
OpenTargetsiENSG00000187583
PharmGKBiPA142671166
VEuPathDBiHostDB:ENSG00000187583

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QSRE, Eukaryota
GeneTreeiENSGT00390000003618
HOGENOMiCLU_031048_0_0_1
InParanoidiQ494U1
OMAiTSHHKIT
OrthoDBi474079at2759
PhylomeDBiQ494U1
TreeFamiTF316105

Enzyme and pathway databases

PathwayCommonsiQ494U1
SignaLinkiQ494U1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		84069, 100 hits in 1031 CRISPR screens

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

More...GenomeRNAii		84069
PharosiQ494U1, Tbio

Protein Ontology

More...PROi		PR:Q494U1
RNActiQ494U1, protein

Gene expression databases

BgeeiENSG00000187583, Expressed in lower esophagus mucosa and 145 other tissues
ExpressionAtlasiQ494U1, baseline and differential
GenevisibleiQ494U1, HS

Family and domain databases

CDDicd13323, PH_PLEKHN1, 1 hit
Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
IPR042835, PLEKHN1
IPR037839, PLEKHN1_PH
PANTHERiPTHR46882, PTHR46882, 1 hit
SMARTiView protein in SMART
SM00233, PH, 2 hits

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 nameiPKHN1_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: Q494U1
Secondary accession number(s): Q494U2, Q5SV98, Q9H0M7
<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: November 13, 2007
Last sequence update: October 10, 2018
Last modified: February 23, 2022
This is version 129 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

Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
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