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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	255919
Gene name	CTD nuclear envelope phosphatase 1 regulatory subunit 1
Gene symbol	CNEP1R1
Synonyms (NCBI Gene)	C16orf69NEP1-R1NEP1R1TMEM188TMP125
Chromosome	16
Chromosome location	16q12.1
Summary	This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol.

Show/Hide all (94)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024324	hsa-miR-215-5p	Microarray	19074876
MIRT026262	hsa-miR-192-5p	Microarray	19074876
MIRT028284	hsa-miR-32-5p	Sequencing	20371350
MIRT051399	hsa-let-7f-5p	CLASH	23622248
MIRT050867	hsa-miR-17-5p	CLASH	23622248
MIRT284104	hsa-miR-3129-5p	HITS-CLIP	23313552
MIRT284091	hsa-miR-199b-3p	HITS-CLIP	23313552
MIRT284089	hsa-miR-199a-3p	HITS-CLIP	23313552
MIRT704542	hsa-miR-101-3p	HITS-CLIP	23313552
MIRT704543	hsa-miR-543	HITS-CLIP	23313552
MIRT704542	hsa-miR-101-3p	HITS-CLIP	23313552
MIRT704541	hsa-miR-144-3p	HITS-CLIP	23313552
MIRT284092	hsa-miR-323a-3p	HITS-CLIP	23313552
MIRT284101	hsa-miR-1244	HITS-CLIP	23313552
MIRT704540	hsa-miR-4699-3p	HITS-CLIP	23313552
MIRT704539	hsa-miR-548aj-5p	HITS-CLIP	23313552
MIRT704538	hsa-miR-548f-5p	HITS-CLIP	23313552
MIRT704537	hsa-miR-548g-5p	HITS-CLIP	23313552
MIRT704536	hsa-miR-548x-5p	HITS-CLIP	23313552
MIRT704535	hsa-miR-1468-3p	HITS-CLIP	23313552
MIRT284102	hsa-miR-1256	HITS-CLIP	23313552
MIRT704534	hsa-miR-3143	HITS-CLIP	23313552
MIRT704533	hsa-miR-582-5p	HITS-CLIP	23313552
MIRT074779	hsa-miR-548aw	HITS-CLIP	23313552
MIRT704532	hsa-miR-518a-5p	HITS-CLIP	23313552
MIRT704531	hsa-miR-527	HITS-CLIP	23313552
MIRT284113	hsa-miR-4642	HITS-CLIP	23313552
MIRT704530	hsa-miR-302c-5p	HITS-CLIP	23313552
MIRT284096	hsa-miR-450b-5p	HITS-CLIP	23313552
MIRT074761	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT074765	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT074762	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT074764	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT074763	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT028284	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT074768	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT558681	hsa-miR-3655	PAR-CLIP	21572407
MIRT074769	hsa-miR-8064	PAR-CLIP	21572407
MIRT074767	hsa-miR-578	PAR-CLIP	21572407
MIRT074761	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT074765	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT074762	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT074764	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT074763	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT028284	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT074768	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT074769	hsa-miR-8064	PAR-CLIP	21572407
MIRT074767	hsa-miR-578	PAR-CLIP	21572407
MIRT074762	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT074765	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028284	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT284104	hsa-miR-3129-5p	HITS-CLIP	23313552
MIRT284091	hsa-miR-199b-3p	HITS-CLIP	23313552
MIRT284089	hsa-miR-199a-3p	HITS-CLIP	23313552
MIRT704542	hsa-miR-101-3p	HITS-CLIP	23313552
MIRT704543	hsa-miR-543	HITS-CLIP	23313552
MIRT704542	hsa-miR-101-3p	HITS-CLIP	23313552
MIRT704541	hsa-miR-144-3p	HITS-CLIP	23313552
MIRT284092	hsa-miR-323a-3p	HITS-CLIP	23313552
MIRT284101	hsa-miR-1244	HITS-CLIP	23313552
MIRT704540	hsa-miR-4699-3p	HITS-CLIP	23313552
MIRT704539	hsa-miR-548aj-5p	HITS-CLIP	23313552
MIRT704538	hsa-miR-548f-5p	HITS-CLIP	23313552
MIRT704537	hsa-miR-548g-5p	HITS-CLIP	23313552
MIRT704536	hsa-miR-548x-5p	HITS-CLIP	23313552
MIRT704535	hsa-miR-1468-3p	HITS-CLIP	23313552
MIRT284102	hsa-miR-1256	HITS-CLIP	23313552
MIRT704534	hsa-miR-3143	HITS-CLIP	23313552
MIRT704533	hsa-miR-582-5p	HITS-CLIP	23313552
MIRT074779	hsa-miR-548aw	HITS-CLIP	23313552
MIRT704532	hsa-miR-518a-5p	HITS-CLIP	23313552
MIRT704531	hsa-miR-527	HITS-CLIP	23313552
MIRT284113	hsa-miR-4642	HITS-CLIP	23313552
MIRT704530	hsa-miR-302c-5p	HITS-CLIP	23313552
MIRT284096	hsa-miR-450b-5p	HITS-CLIP	23313552
MIRT074761	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT074765	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT074762	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT074764	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT074763	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT028284	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT074768	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT558681	hsa-miR-3655	PAR-CLIP	21572407
MIRT074769	hsa-miR-8064	PAR-CLIP	21572407
MIRT074767	hsa-miR-578	PAR-CLIP	21572407
MIRT074761	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT074765	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT074762	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT074764	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT074763	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT028284	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT074768	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT074769	hsa-miR-8064	PAR-CLIP	21572407
MIRT074767	hsa-miR-578	PAR-CLIP	21572407

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22134922
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	22134922
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0010867	Process	Positive regulation of triglyceride biosynthetic process	IDA	22134922
GO:0016020	Component	Membrane	IEA
GO:0019888	Function	Protein phosphatase regulator activity	IDA	22134922
GO:0031965	Component	Nuclear membrane	IDA	22134922
GO:0031965	Component	Nuclear membrane	IEA
GO:0034504	Process	Protein localization to nucleus	IDA	22134922
GO:0071595	Component	Nem1-Spo7 phosphatase complex	IBA
GO:0071595	Component	Nem1-Spo7 phosphatase complex	IDA	22134922
GO:0071595	Component	Nem1-Spo7 phosphatase complex	IEA

MIM	HGNC	e!Ensembl
616869	26759	ENSG00000205423

Q8N9A8

Protein name

Nuclear envelope phosphatase-regulatory subunit 1 (NEP1-R1) (Transmembrane protein 188)

Protein function

Forms with the serine/threonine protein phosphatase CTDNEP1 an active complex which dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglyc

PDB

8UJL , 8UJM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09771	Tmemb_18A	5 → 122	Transmembrane protein 188	Family

Tissue specificity

TISSUE SPECIFICITY: Muscle specific with lower expression in other metabolic tissues. {ECO:0000269|PubMed:22134922}.

Sequence

MNSLEQAEDLKAFERRLTEYIHCLQPATGRWRMLLIVVSVCTATGAWNWLIDPETQKVSF
FTSLWNHPFFTISCITLIGLFFAGIHKRVVAPSIIAARCRTVLAEYNMSCDDTGKLILKP
RPHVQ

Sequence length

125

Interactions

View interactions

	Reactome
			Depolymerisation of the Nuclear Lamina

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 (8)

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.
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Neoplasms	Associate	27225591	★★★★★ ★☆☆☆☆ Found in Text Mining only

CNEP1R1 (CTD nuclear envelope phosphatase 1 regulatory subunit 1)