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Protein

Periphilin-1

Gene

PPHLN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (Probable).1 Publication3 Publications

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Keratinization, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Periphilin-11 Publication
Alternative name(s):
CDC7 expression repressor1 Publication
Short name:
CR1 Publication
Gastric cancer antigen Ga501 Publication
Gene namesi
Name:PPHLN1Imported
ORF Names:HSPC206, HSPC232
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:19369. PPHLN1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi51535.
OpenTargetsiENSG00000134283.
PharmGKBiPA134881011.

Polymorphism and mutation databases

BioMutaiPPHLN1.
DMDMi46396942.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000585371 – 458Periphilin-1Add BLAST458

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei110PhosphoserineCombined sources1
Modified residuei114PhosphoserineCombined sources1
Modified residuei133PhosphoserineCombined sources1
Modified residuei140PhosphoserineCombined sources1
Modified residuei161PhosphoserineCombined sources1
Modified residuei167PhosphoserineCombined sources1
Modified residuei197PhosphoserineCombined sources1
Modified residuei201PhosphoserineCombined sources1
Modified residuei205PhosphoserineCombined sources1
Modified residuei235N6-acetyllysineCombined sources1
Modified residuei240N6-acetyllysine; alternateCombined sources1
Cross-linki240Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei325PhosphoserineCombined sources1
Cross-linki453Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Substrate of transglutaminase (in vitro).1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8NEY8.
MaxQBiQ8NEY8.
PaxDbiQ8NEY8.
PeptideAtlasiQ8NEY8.
PRIDEiQ8NEY8.

PTM databases

iPTMnetiQ8NEY8.
PhosphoSitePlusiQ8NEY8.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000134283.
CleanExiHS_PPHLN1.
ExpressionAtlasiQ8NEY8. baseline and differential.
GenevisibleiQ8NEY8. HS.

Organism-specific databases

HPAiHPA038902.
HPA038903.

Interactioni

Subunit structurei

Homodimer (PubMed:12853457). Component of the HUSH complex; at least composed of FAM208A/TASOR, PPHLN1 and MPHOSPH8 (PubMed:26022416). Interacts with SIN3A and HDAC1 (PubMed:17963697). Interacts with PPL (PubMed:12853457).3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC57Q2TAC23EBI-474076,EBI-2808286
MTUS2Q5JR593EBI-474076,EBI-742948
TSGA10Q9BZW73EBI-474076,EBI-744794

Protein-protein interaction databases

BioGridi119596. 59 interactors.
DIPiDIP-49051N.
IntActiQ8NEY8. 35 interactors.
MINTiMINT-1431126.
STRINGi9606.ENSP00000378935.

Structurei

3D structure databases

ProteinModelPortaliQ8NEY8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi103 – 109Nuclear localization signalSequence analysis7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi140 – 215Ser-richAdd BLAST76

Phylogenomic databases

eggNOGiENOG410IFSB. Eukaryota.
ENOG4111JYA. LUCA.
GeneTreeiENSGT00390000016228.
HOVERGENiHBG053653.
InParanoidiQ8NEY8.
OrthoDBiEOG091G0BKD.
PhylomeDBiQ8NEY8.
TreeFamiTF335813.

Family and domain databases

InterProiIPR028851. Pphln1.
[Graphical view]
PANTHERiPTHR15836:SF2. PTHR15836:SF2. 1 hit.

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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

Note: No experimental confirmation available.Curated
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: No experimental confirmation available. May be due to intron retention.
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: No experimental confirmation available. May be due to intron retention.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
Show »
Length:348
Mass (Da):40,319
Checksum:i1730F2459FE4A5BE
GO

Sequence cautioni

Isoform 6 : The sequence AAF36126 differs from that shown. Reason: Frameshift at positions 171, 193, 216, 243 and 257.Curated
Isoform 6 : The sequence AAF36152 differs from that shown. Reason: Frameshift at positions 191, 199 and 451.Curated
The sequence AAH25306 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_036233173V → M in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs140585847dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.444157.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.444157.

3D structure databases

ProteinModelPortaliQ8NEY8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119596. 59 interactors.
DIPiDIP-49051N.
IntActiQ8NEY8. 35 interactors.
MINTiMINT-1431126.
STRINGi9606.ENSP00000378935.

PTM databases

iPTMnetiQ8NEY8.
PhosphoSitePlusiQ8NEY8.

Polymorphism and mutation databases

BioMutaiPPHLN1.
DMDMi46396942.

Proteomic databases

EPDiQ8NEY8.
MaxQBiQ8NEY8.
PaxDbiQ8NEY8.
PeptideAtlasiQ8NEY8.
PRIDEiQ8NEY8.

Protocols and materials databases

DNASUi51535.
Structural Biology KnowledgebaseSearch...

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

CTDi51535.
DisGeNETi51535.
GeneCardsiPPHLN1.
HGNCiHGNC:19369. PPHLN1.
HPAiHPA038902.
HPA038903.
MIMi608150. gene.
neXtProtiNX_Q8NEY8.
OpenTargetsiENSG00000134283.
PharmGKBiPA134881011.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFSB. Eukaryota.
ENOG4111JYA. LUCA.
GeneTreeiENSGT00390000016228.
HOVERGENiHBG053653.
InParanoidiQ8NEY8.
OrthoDBiEOG091G0BKD.
PhylomeDBiQ8NEY8.
TreeFamiTF335813.

Miscellaneous databases

ChiTaRSiPPHLN1. human.
GeneWikiiPPHLN1.
GenomeRNAii51535.
PROiQ8NEY8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134283.
CleanExiHS_PPHLN1.
ExpressionAtlasiQ8NEY8. baseline and differential.
GenevisibleiQ8NEY8. HS.

Family and domain databases

InterProiIPR028851. Pphln1.
[Graphical view]
PANTHERiPTHR15836:SF2. PTHR15836:SF2. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiPPHLN_HUMAN
AccessioniPrimary (citable) accession number: Q8NEY8
Secondary accession number(s): E9PAX8
, Q86YT2, Q8IXN3, Q8TB09, Q96NB9, Q9NXL4, Q9P0P6, Q9P0R9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: November 2, 2016
This is version 127 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.