Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51535
Gene name	Periphilin 1
Gene symbol	PPHLN1
Synonyms (NCBI Gene)	CRHSPC206HSPC232
Chromosome	12
Chromosome location	12q12
Summary	The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with peripl

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miRTarBase ID	miRNA	Experiments	Reference
MIRT439924	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT439924	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT1252597	hsa-miR-151-3p	CLIP-seq
MIRT1252598	hsa-miR-3936	CLIP-seq
MIRT1252599	hsa-miR-4463	CLIP-seq
MIRT1252600	hsa-miR-4499	CLIP-seq
MIRT1252601	hsa-miR-587	CLIP-seq
MIRT1252602	hsa-miR-1285	CLIP-seq
MIRT1252603	hsa-miR-183	CLIP-seq
MIRT1252604	hsa-miR-199a-3p	CLIP-seq
MIRT1252605	hsa-miR-199b-3p	CLIP-seq
MIRT1252606	hsa-miR-24	CLIP-seq
MIRT1252607	hsa-miR-2681	CLIP-seq
MIRT1252608	hsa-miR-30a	CLIP-seq
MIRT1252609	hsa-miR-30b	CLIP-seq
MIRT1252610	hsa-miR-30c	CLIP-seq
MIRT1252611	hsa-miR-30d	CLIP-seq
MIRT1252612	hsa-miR-30e	CLIP-seq
MIRT1252613	hsa-miR-31	CLIP-seq
MIRT1252614	hsa-miR-3129-5p	CLIP-seq
MIRT1252615	hsa-miR-3149	CLIP-seq
MIRT1252616	hsa-miR-3187-5p	CLIP-seq
MIRT1252617	hsa-miR-329	CLIP-seq
MIRT1252618	hsa-miR-3613-3p	CLIP-seq
MIRT1252619	hsa-miR-362-3p	CLIP-seq
MIRT1252620	hsa-miR-3647-3p	CLIP-seq
MIRT1252621	hsa-miR-3658	CLIP-seq
MIRT1252622	hsa-miR-3941	CLIP-seq
MIRT1252623	hsa-miR-3945	CLIP-seq
MIRT1252624	hsa-miR-4253	CLIP-seq
MIRT1252625	hsa-miR-4282	CLIP-seq
MIRT1252626	hsa-miR-4284	CLIP-seq
MIRT1252627	hsa-miR-4427	CLIP-seq
MIRT1252628	hsa-miR-4452	CLIP-seq
MIRT1252629	hsa-miR-4490	CLIP-seq
MIRT1252630	hsa-miR-4680-3p	CLIP-seq
MIRT1252631	hsa-miR-4696	CLIP-seq
MIRT1252632	hsa-miR-4760-3p	CLIP-seq
MIRT1252633	hsa-miR-4774-5p	CLIP-seq
MIRT1252634	hsa-miR-4786-3p	CLIP-seq
MIRT1252635	hsa-miR-490-5p	CLIP-seq
MIRT1252636	hsa-miR-568	CLIP-seq
MIRT1252637	hsa-miR-590-3p	CLIP-seq
MIRT1252638	hsa-miR-603	CLIP-seq
MIRT1252639	hsa-miR-612	CLIP-seq
MIRT1252640	hsa-miR-758	CLIP-seq
MIRT1252641	hsa-miR-936	CLIP-seq
MIRT1252642	hsa-miR-1283	CLIP-seq
MIRT1252618	hsa-miR-3613-3p	CLIP-seq
MIRT1252643	hsa-miR-3675-3p	CLIP-seq
MIRT1252625	hsa-miR-4282	CLIP-seq
MIRT1252644	hsa-miR-4684-5p	CLIP-seq
MIRT2074415	hsa-miR-507	CLIP-seq
MIRT2074416	hsa-miR-557	CLIP-seq
MIRT2074417	hsa-miR-200b	CLIP-seq
MIRT2074418	hsa-miR-200c	CLIP-seq
MIRT2074419	hsa-miR-374c	CLIP-seq
MIRT2074420	hsa-miR-429	CLIP-seq
MIRT2074421	hsa-miR-4724-5p	CLIP-seq
MIRT2074422	hsa-miR-655	CLIP-seq
MIRT2598114	hsa-miR-142-5p	CLIP-seq
MIRT2598115	hsa-miR-203	CLIP-seq
MIRT2598116	hsa-miR-216a	CLIP-seq
MIRT2598117	hsa-miR-216b	CLIP-seq
MIRT2598118	hsa-miR-487a	CLIP-seq
MIRT2598119	hsa-miR-505	CLIP-seq
MIRT2598120	hsa-miR-548a-5p	CLIP-seq
MIRT2598121	hsa-miR-548ab	CLIP-seq
MIRT2598122	hsa-miR-548ak	CLIP-seq
MIRT2598123	hsa-miR-548b-5p	CLIP-seq
MIRT2598124	hsa-miR-548c-5p	CLIP-seq
MIRT2598125	hsa-miR-548d-5p	CLIP-seq
MIRT2598126	hsa-miR-548h	CLIP-seq
MIRT2598127	hsa-miR-548i	CLIP-seq
MIRT2598128	hsa-miR-548j	CLIP-seq
MIRT2598129	hsa-miR-548k	CLIP-seq
MIRT2598130	hsa-miR-548l	CLIP-seq
MIRT2598131	hsa-miR-548w	CLIP-seq
MIRT2598132	hsa-miR-548y	CLIP-seq
MIRT2598133	hsa-miR-559	CLIP-seq
MIRT1252642	hsa-miR-1283	CLIP-seq
MIRT2598114	hsa-miR-142-5p	CLIP-seq
MIRT2598115	hsa-miR-203	CLIP-seq
MIRT1252618	hsa-miR-3613-3p	CLIP-seq
MIRT1252643	hsa-miR-3675-3p	CLIP-seq
MIRT1252625	hsa-miR-4282	CLIP-seq
MIRT1252644	hsa-miR-4684-5p	CLIP-seq
MIRT2598118	hsa-miR-487a	CLIP-seq
MIRT2598119	hsa-miR-505	CLIP-seq
MIRT2598120	hsa-miR-548a-5p	CLIP-seq
MIRT2598121	hsa-miR-548ab	CLIP-seq
MIRT2598122	hsa-miR-548ak	CLIP-seq
MIRT2598123	hsa-miR-548b-5p	CLIP-seq
MIRT2598124	hsa-miR-548c-5p	CLIP-seq
MIRT2598125	hsa-miR-548d-5p	CLIP-seq
MIRT2598126	hsa-miR-548h	CLIP-seq
MIRT2598127	hsa-miR-548i	CLIP-seq
MIRT2598128	hsa-miR-548j	CLIP-seq
MIRT2598129	hsa-miR-548k	CLIP-seq
MIRT2598130	hsa-miR-548l	CLIP-seq
MIRT2598131	hsa-miR-548w	CLIP-seq
MIRT2598132	hsa-miR-548y	CLIP-seq
MIRT2598133	hsa-miR-559	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0031424	Process	Keratinization	IEA
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IBA
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IDA	26022416
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0097355	Process	Protein localization to heterochromatin	IBA
GO:0097355	Process	Protein localization to heterochromatin	IDA	28581500
GO:0140719	Process	Constitutive heterochromatin formation	IDA	28581500

MIM	HGNC	e!Ensembl
608150	19369	ENSG00000134283

Q8NEY8

Protein name

Periphilin-1 (CDC7 expression repressor) (CR) (Gastric cancer antigen Ga50)

Protein function

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 S

PDB

6SWG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11488	Lge1	277 → 343		Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12853457}.

Sequence

MWSEGRYEYERIPRERAPPRSHPSDGYNRLVNIVPKKPPLLDRPGEGSYNRYYSHVDYRD
YDEGRSFSHDRRSGPPHRGDESGYRWTRDDHSASRQPEYRDMRDGFRRKSFYSSHYARER
SPYKRDNTFFRESPVGRKDSPHSRSGSSVSSRSYSPERSKSYSFHQSQHRKSVRPGASYK
RQNEGNPERDKERPVQSLKTSRDTSPSSGSAVSSSKVLDKPSRLTEKELAEAASKWAAEK
LEKSDESNLPEISEYEAGSTAPLFTDQPEEPESNTTHGIELFEDSQLTTRSKAIASKTKE
IEQVYRQDCETFGMVVKMLIEKDPSLEKSIQFALRQNLHEIESAGQTWQQVPPVRNTEMD
HDGTPENEGEETAQSAPQPPQAPQPLQPRKKRVRRTTQLRRTTGAPDITWGMLKKTTQEA
ERILLRTQTPFTPENLFLAMLSVVHCNSRKDVKPENKQ

Sequence length

458

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	26070530	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	11592776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	25608663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis type 3	Lamellar ichthyosis	Pubtator	16117785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	11592776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34135559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PPHLN1 (periphilin 1)