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Entry version 152 (02 Dec 2020)
Sequence version 2 (13 Apr 2004)
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Protein

Periphilin-1

Gene

PPHLN1

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

Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3. In the HUSH complex, contributes to the maintenance of the complex at chromatin (PubMed:26022416). Acts as a transcriptional corepressor and regulates the cell cycle, probably via the HUSH complex (PubMed:15474462, PubMed:17963697). The HUSH complex is also involved in the silencing of unintegrated retroviral DNA: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (PubMed:12853457).1 Publication4 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

GO - Biological processi

<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 functionRepressor
Biological processKeratinization, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8NEY8

<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:
Periphilin-11 Publication
Alternative name(s):
CDC7 expression repressor1 Publication
Short name:
CR1 Publication
Gastric cancer antigen Ga501 Publication
<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:PPHLN1Imported
ORF Names:HSPC206, HSPC232
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...
EuPathDBi
HostDB:ENSG00000134283.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19369, PPHLN1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608150, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NEY8

<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

Chromosome, Cytoplasm, Nucleus

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
51535

Open Targets

More...
OpenTargetsi
ENSG00000134283

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134881011

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NEY8, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PPHLN1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
46396942

<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_00000585371 – 458Periphilin-1Add BLAST458

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 describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki109Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei110PhosphoserineCombined sources1
Modified residuei114PhosphoserineCombined sources1
Modified residuei133PhosphoserineCombined sources1
Modified residuei140PhosphoserineCombined sources1
Cross-linki160Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei161PhosphoserineCombined sources1
Modified residuei167PhosphoserineCombined sources1
Cross-linki180Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei197PhosphoserineCombined sources1
Cross-linki199Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei201PhosphoserineCombined sources1
Modified residuei205PhosphoserineCombined sources1
Cross-linki227Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei235N6-acetyllysine; alternateCombined sources1
Cross-linki235Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei240N6-acetyllysine; alternateCombined sources1
Cross-linki240Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei325PhosphoserineCombined sources1
Cross-linki328Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki453Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<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

Substrate of transglutaminase (in vitro).1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8NEY8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NEY8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NEY8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NEY8

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

More...
PaxDbi
Q8NEY8

PeptideAtlas

More...
PeptideAtlasi
Q8NEY8

PRoteomics IDEntifications database

More...
PRIDEi
Q8NEY8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
19102
73240 [Q8NEY8-1]
73241 [Q8NEY8-2]
73242 [Q8NEY8-3]
73243 [Q8NEY8-5]
73244 [Q8NEY8-6]
73245 [Q8NEY8-7]
73246 [Q8NEY8-8]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NEY8

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

More...
PhosphoSitePlusi
Q8NEY8

<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.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000134283, Expressed in testis and 221 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NEY8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NEY8, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000134283, Low tissue specificity

<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

Homodimer (PubMed:12853457).

Component of the HUSH complex; at least composed of TASOR, PPHLN1 and MPHOSPH8 (PubMed:26022416).

Interacts with SIN3A and HDAC1 (PubMed:17963697). May interact with PPL (PubMed:12853457).

3 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
119596, 79 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q8NEY8

Database of interacting proteins

More...
DIPi
DIP-49051N

Protein interaction database and analysis system

More...
IntActi
Q8NEY8, 56 interactors

Molecular INTeraction database

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MINTi
Q8NEY8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000378935

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8NEY8, 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

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SMRi
Q8NEY8

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
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

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi103 – 109Nuclear localization signalSequence analysis7

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi140 – 215Ser-richAdd BLAST76

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QW3I, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000016228

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_051689_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NEY8

Database of Orthologous Groups

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OrthoDBi
924482at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NEY8

TreeFam database of animal gene trees

More...
TreeFami
TF335813

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR028851, Pphln1

The PANTHER Classification System

More...
PANTHERi
PTHR15836, PTHR15836, 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 (8+)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 8 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NEY8-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
MWSEGRYEYE RIPRERAPPR SHPSDGYNRL VNIVPKKPPL LDRPGEGSYN
60 70 80 90 100
RYYSHVDYRD YDEGRSFSHD RRSGPPHRGD ESGYRWTRDD HSASRQPEYR
110 120 130 140 150
DMRDGFRRKS FYSSHYARER SPYKRDNTFF RESPVGRKDS PHSRSGSSVS
160 170 180 190 200
SRSYSPERSK SYSFHQSQHR KSVRPGASYK RQNEGNPERD KERPVQSLKT
210 220 230 240 250
SRDTSPSSGS AVSSSKVLDK PSRLTEKELA EAASKWAAEK LEKSDESNLP
260 270 280 290 300
EISEYEAGST APLFTDQPEE PESNTTHGIE LFEDSQLTTR SKAIASKTKE
310 320 330 340 350
IEQVYRQDCE TFGMVVKMLI EKDPSLEKSI QFALRQNLHE IESAGQTWQQ
360 370 380 390 400
VPPVRNTEMD HDGTPENEGE ETAQSAPQPP QAPQPLQPRK KRVRRTTQLR
410 420 430 440 450
RTTGAPDITW GMLKKTTQEA ERILLRTQTP FTPENLFLAM LSVVHCNSRK

DVKPENKQ
Length:458
Mass (Da):52,737
Last modified:April 13, 2004 - v2
<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:iFE5AAC9A6875A455
GO
Isoform 2 (identifier: Q8NEY8-2) [UniParc]FASTAAdd to basket
Also known as: CR1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAYRRDEM
     342-367: ESAGQTWQQVPPVRNTEMDHDGTPEN → GERCVEELKHFIAEYDTSTQDFGEPF
     368-458: Missing.

Show »
Length:374
Mass (Da):43,397
Checksum:iE21175738E0BBB10
GO
Isoform 3 (identifier: Q8NEY8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-79: Missing.
     376-376: A → ALFGFQHDASNHTIVGLGPNQVPEMKETTLQA

Show »
Length:434
Mass (Da):49,655
Checksum:i125A3F59421D07F5
GO
Isoform 5 (identifier: Q8NEY8-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAYRRDEM
     25-79: Missing.
     305-306: YR → RV
     307-458: Missing.

Note: May be due to intron retention.Curated
Show »
Length:258
Mass (Da):29,784
Checksum:i40A8EA59BEE07615
GO
Isoform 6 (identifier: Q8NEY8-6) [UniParc]FASTAAdd to basket
Also known as: CR-S1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAYRRDEM
     25-79: Missing.
     342-367: ESAGQTWQQVPPVRNTEMDHDGTPEN → GERCVEELKHFIAEYDTSTQDFGEPF
     368-458: Missing.

Show »
Length:319
Mass (Da):36,952
Checksum:i2A6B2C5E297CD8D9
GO
Isoform 7 (identifier: Q8NEY8-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-184: Missing.
     185-189: GNPER → MFSYI
     305-306: YR → RV
     307-458: Missing.

Note: May be due to intron retention.Curated
Show »
Length:122
Mass (Da):13,452
Checksum:iBABAE17D379F93C2
GO
Isoform 8 (identifier: Q8NEY8-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     342-367: ESAGQTWQQVPPVRNTEMDHDGTPEN → GERCVEELKHFIAEYDTSTQDFGEPF
     368-458: Missing.

Show »
Length:367
Mass (Da):42,475
Checksum:iD6CA75F0569FBCE7
GO
Isoform 9 (identifier: Q8NEY8-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     170-190: RKSVRPGASYKRQNEGNPERD → RN
     342-367: ESAGQTWQQVPPVRNTEMDHDGTPEN → GERCVEELKHFIAEYDTSTQDFGEPF
     368-458: Missing.

Show »
Length:348
Mass (Da):40,319
Checksum:i1730F2459FE4A5BE
GO

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

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W0Q9F8W0Q9_HUMAN
Periphilin-1
PPHLN1
385Annotation score:

Annotation score:2 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>
F8WF16F8WF16_HUMAN
Periphilin-1
PPHLN1
303Annotation score:

Annotation score:2 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>
B7Z8L1B7Z8L1_HUMAN
Periphilin-1
PPHLN1
340Annotation score:

Annotation score:2 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>
F8VWU8F8VWU8_HUMAN
Periphilin-1
PPHLN1
168Annotation score:

Annotation score:2 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>
F8W6A0F8W6A0_HUMAN
Periphilin-1
PPHLN1
363Annotation score:

Annotation score:2 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>
F8VPY7F8VPY7_HUMAN
Periphilin-1
PPHLN1
161Annotation score:

Annotation score:2 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>
F8VRK2F8VRK2_HUMAN
Periphilin-1
PPHLN1
107Annotation 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>
F8VP48F8VP48_HUMAN
Periphilin-1
PPHLN1
52Annotation 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>
F8VXV7F8VXV7_HUMAN
Periphilin-1
PPHLN1
37Annotation 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>

<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 AAF36126 differs from that shown. Reason: Frameshift.Curated
The sequence AAF36152 differs from that shown. Reason: Frameshift.Curated
The sequence AAH25306 differs from that shown. Reason: Erroneous initiation.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 conflicti97P → L in AAF36126 (PubMed:11042152).Curated1
Sequence conflicti178S → F in AAO16497 (PubMed:12853457).Curated1
Sequence conflicti253S → P in AAF36126 (PubMed:11042152).Curated1
Sequence conflicti283E → K in AAF36126 (PubMed:11042152).Curated1
Isoform 3 (identifier: Q8NEY8-3)
Sequence conflicti341Q → P in AAH25306 (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_036233173V → M in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs140585847Ensembl.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_0098981 – 184Missing in isoform 7. 1 PublicationAdd BLAST184
Alternative sequenceiVSP_0098991M → MAYRRDEM in isoform 2, isoform 5 and isoform 6. 3 Publications1
Alternative sequenceiVSP_00990025 – 79Missing in isoform 3, isoform 5 and isoform 6. 2 PublicationsAdd BLAST55
Alternative sequenceiVSP_054078170 – 190RKSVR…NPERD → RN in isoform 9. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_009902185 – 189GNPER → MFSYI in isoform 7. 1 Publication5
Alternative sequenceiVSP_009903305 – 306YR → RV in isoform 5 and isoform 7. 2 Publications2
Alternative sequenceiVSP_009904307 – 458Missing in isoform 5 and isoform 7. 2 PublicationsAdd BLAST152
Alternative sequenceiVSP_009905342 – 367ESAGQ…GTPEN → GERCVEELKHFIAEYDTSTQ DFGEPF in isoform 2, isoform 6, isoform 8 and isoform 9. 4 PublicationsAdd BLAST26
Alternative sequenceiVSP_009906368 – 458Missing in isoform 2, isoform 6, isoform 8 and isoform 9. 4 PublicationsAdd BLAST91
Alternative sequenceiVSP_009907376A → ALFGFQHDASNHTIVGLGPN QVPEMKETTLQA in isoform 3. 1 Publication1

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
AY039238 mRNA Translation: AAK68657.1
AY157850 mRNA Translation: AAO16497.1
AF151040 mRNA Translation: AAF36126.1 Frameshift.
AF151066 mRNA Translation: AAF36152.1 Frameshift.
AK055690 mRNA Translation: BAB70985.1
AK000186 mRNA Translation: BAA90996.1
CR621833 mRNA No translation available.
AC020629 Genomic DNA No translation available.
AC079601 Genomic DNA No translation available.
AC079684 Genomic DNA No translation available.
BC025306 mRNA Translation: AAH25306.1 Different initiation.
BC039832 mRNA Translation: AAH39832.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31777.1 [Q8NEY8-1]
CCDS41773.1 [Q8NEY8-2]
CCDS44860.1 [Q8NEY8-3]
CCDS44861.1 [Q8NEY8-9]
CCDS55817.1 [Q8NEY8-6]
CCDS8741.1 [Q8NEY8-8]

NCBI Reference Sequences

More...
RefSeqi
NP_001137259.1, NM_001143787.1 [Q8NEY8-3]
NP_001137260.1, NM_001143788.1 [Q8NEY8-9]
NP_057572.5, NM_016488.6 [Q8NEY8-1]
NP_958846.1, NM_201438.1 [Q8NEY8-5]
NP_958847.1, NM_201439.1 [Q8NEY8-8]
NP_958848.1, NM_201440.1 [Q8NEY8-6]
NP_958923.1, NM_201515.1 [Q8NEY8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000358314; ENSP00000351066; ENSG00000134283 [Q8NEY8-8]
ENST00000395568; ENSP00000378935; ENSG00000134283 [Q8NEY8-1]
ENST00000395580; ENSP00000378947; ENSG00000134283 [Q8NEY8-2]
ENST00000432191; ENSP00000393965; ENSG00000134283 [Q8NEY8-3]
ENST00000449194; ENSP00000390681; ENSG00000134283 [Q8NEY8-9]
ENST00000552761; ENSP00000449331; ENSG00000134283 [Q8NEY8-6]
ENST00000610488; ENSP00000479913; ENSG00000134283 [Q8NEY8-1]
ENST00000613154; ENSP00000478872; ENSG00000134283 [Q8NEY8-9]
ENST00000619544; ENSP00000477681; ENSG00000134283 [Q8NEY8-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51535

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51535

UCSC genome browser

More...
UCSCi
uc001rnb.4, human [Q8NEY8-1]

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
AY039238 mRNA Translation: AAK68657.1
AY157850 mRNA Translation: AAO16497.1
AF151040 mRNA Translation: AAF36126.1 Frameshift.
AF151066 mRNA Translation: AAF36152.1 Frameshift.
AK055690 mRNA Translation: BAB70985.1
AK000186 mRNA Translation: BAA90996.1
CR621833 mRNA No translation available.
AC020629 Genomic DNA No translation available.
AC079601 Genomic DNA No translation available.
AC079684 Genomic DNA No translation available.
BC025306 mRNA Translation: AAH25306.1 Different initiation.
BC039832 mRNA Translation: AAH39832.1
CCDSiCCDS31777.1 [Q8NEY8-1]
CCDS41773.1 [Q8NEY8-2]
CCDS44860.1 [Q8NEY8-3]
CCDS44861.1 [Q8NEY8-9]
CCDS55817.1 [Q8NEY8-6]
CCDS8741.1 [Q8NEY8-8]
RefSeqiNP_001137259.1, NM_001143787.1 [Q8NEY8-3]
NP_001137260.1, NM_001143788.1 [Q8NEY8-9]
NP_057572.5, NM_016488.6 [Q8NEY8-1]
NP_958846.1, NM_201438.1 [Q8NEY8-5]
NP_958847.1, NM_201439.1 [Q8NEY8-8]
NP_958848.1, NM_201440.1 [Q8NEY8-6]
NP_958923.1, NM_201515.1 [Q8NEY8-2]

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
6SWGX-ray2.51A/B285-341[»]
SMRiQ8NEY8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi119596, 79 interactors
CORUMiQ8NEY8
DIPiDIP-49051N
IntActiQ8NEY8, 56 interactors
MINTiQ8NEY8
STRINGi9606.ENSP00000378935

PTM databases

iPTMnetiQ8NEY8
PhosphoSitePlusiQ8NEY8

Polymorphism and mutation databases

BioMutaiPPHLN1
DMDMi46396942

Proteomic databases

EPDiQ8NEY8
jPOSTiQ8NEY8
MassIVEiQ8NEY8
MaxQBiQ8NEY8
PaxDbiQ8NEY8
PeptideAtlasiQ8NEY8
PRIDEiQ8NEY8
ProteomicsDBi19102
73240 [Q8NEY8-1]
73241 [Q8NEY8-2]
73242 [Q8NEY8-3]
73243 [Q8NEY8-5]
73244 [Q8NEY8-6]
73245 [Q8NEY8-7]
73246 [Q8NEY8-8]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
25050, 147 antibodies

The DNASU plasmid repository

More...
DNASUi
51535

Genome annotation databases

EnsembliENST00000358314; ENSP00000351066; ENSG00000134283 [Q8NEY8-8]
ENST00000395568; ENSP00000378935; ENSG00000134283 [Q8NEY8-1]
ENST00000395580; ENSP00000378947; ENSG00000134283 [Q8NEY8-2]
ENST00000432191; ENSP00000393965; ENSG00000134283 [Q8NEY8-3]
ENST00000449194; ENSP00000390681; ENSG00000134283 [Q8NEY8-9]
ENST00000552761; ENSP00000449331; ENSG00000134283 [Q8NEY8-6]
ENST00000610488; ENSP00000479913; ENSG00000134283 [Q8NEY8-1]
ENST00000613154; ENSP00000478872; ENSG00000134283 [Q8NEY8-9]
ENST00000619544; ENSP00000477681; ENSG00000134283 [Q8NEY8-3]
GeneIDi51535
KEGGihsa:51535
UCSCiuc001rnb.4, human [Q8NEY8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51535
DisGeNETi51535
EuPathDBiHostDB:ENSG00000134283.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PPHLN1
HGNCiHGNC:19369, PPHLN1
HPAiENSG00000134283, Low tissue specificity
MIMi608150, gene
neXtProtiNX_Q8NEY8
OpenTargetsiENSG00000134283
PharmGKBiPA134881011

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QW3I, Eukaryota
GeneTreeiENSGT00390000016228
HOGENOMiCLU_051689_1_0_1
InParanoidiQ8NEY8
OrthoDBi924482at2759
PhylomeDBiQ8NEY8
TreeFamiTF335813

Enzyme and pathway databases

PathwayCommonsiQ8NEY8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
51535, 45 hits in 846 CRISPR screens

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

More...
ChiTaRSi
PPHLN1, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PPHLN1

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

More...
GenomeRNAii
51535
PharosiQ8NEY8, Tbio

Protein Ontology

More...
PROi
PR:Q8NEY8
RNActiQ8NEY8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000134283, Expressed in testis and 221 other tissues
ExpressionAtlasiQ8NEY8, baseline and differential
GenevisibleiQ8NEY8, HS

Family and domain databases

InterProiView protein in InterPro
IPR028851, Pphln1
PANTHERiPTHR15836, PTHR15836, 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 nameiPPHLN_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: Q8NEY8
Secondary accession number(s): E9PAX8
, Q86YT2, Q8IXN3, Q8TB09, Q96NB9, Q9NXL4, Q9P0P6, Q9P0R9
<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: April 13, 2004
Last sequence update: April 13, 2004
Last modified: December 2, 2020
This is version 152 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Reference proteome

Documents

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