Human Gene CNEP1R1 (ENST00000427478.7_5) from GENCODE V47lift37
  Description: CTD nuclear envelope phosphatase 1 regulatory subunit 1, transcript variant 2 (from RefSeq NM_001281789.2)
Gencode Transcript: ENST00000427478.7_5
Gencode Gene: ENSG00000205423.12_10
Transcript (Including UTRs)
   Position: hg19 chr16:50,059,136-50,070,992 Size: 11,857 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr16:50,059,227-50,069,369 Size: 10,143 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:50,059,136-50,070,992)mRNA (may differ from genome)Protein (125 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NEPR1_HUMAN
DESCRIPTION: RecName: Full=Nuclear envelope phosphatase-regulatory subunit 1; Short=NEP1-R1; AltName: Full=Transmembrane protein 188;
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 diacylglycerol and control the metabolism of fatty acids at differents levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol.
SUBUNIT: Interacts with CTDNEP1; the complex dephosphorylates LPIN1 and LPIN2.
INTERACTION: O95476:CTDNEP1; NbExp=4; IntAct=EBI-5323455, EBI-5323433;
SUBCELLULAR LOCATION: Nucleus membrane; Multi-pass membrane protein. Cytoplasm. Note=Filamentous pattern in the cytoplasm.
TISSUE SPECIFICITY: Muscle specific with lower expression in other metabolic tissues.
SIMILARITY: Belongs to the CNEP1R1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.33 RPKM in Testis
Total median expression: 189.48 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -44.5091-0.489 Picture PostScript Text
3' UTR -390.301623-0.240 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019168 - Transmembrane_protein_188

Pfam Domains:
PF09771 - Transmembrane protein 188

SCOP Domains:
54637 - Thioesterase/thiol ester dehydrase-isomerase

ModBase Predicted Comparative 3D Structure on Q8N9A8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0007077 mitotic nuclear envelope disassembly
GO:0010867 positive regulation of triglyceride biosynthetic process
GO:0034504 protein localization to nucleus
GO:0035307 positive regulation of protein dephosphorylation

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031965 nuclear membrane
GO:0071595 Nem1-Spo7 phosphatase complex


-  Descriptions from all associated GenBank mRNAs
  AK095420 - Homo sapiens cDNA FLJ38101 fis, clone D3OST1000270.
LP895321 - Sequence 185 from Patent EP3253886.
AK301610 - Homo sapiens cDNA FLJ52286 complete cds.
BC022550 - Homo sapiens transmembrane protein 188, mRNA (cDNA clone IMAGE:4818602), complete cds.
CR933600 - Homo sapiens mRNA; cDNA DKFZp313D2416 (from clone DKFZp313D2416).
BC036683 - Homo sapiens transmembrane protein 188, mRNA (cDNA clone MGC:41938 IMAGE:5266084), complete cds.
FJ516381 - Homo sapiens TMP125 mRNA, complete cds.
AK307132 - Homo sapiens cDNA, FLJ97080.
DQ579314 - Homo sapiens piRNA piR-47426, complete sequence.
JD195888 - Sequence 176912 from Patent EP1572962.
AK307309 - Homo sapiens cDNA, FLJ97257.
JD350615 - Sequence 331639 from Patent EP1572962.
JD300728 - Sequence 281752 from Patent EP1572962.
JD491246 - Sequence 472270 from Patent EP1572962.
JD283902 - Sequence 264926 from Patent EP1572962.
JD514651 - Sequence 495675 from Patent EP1572962.
JD140665 - Sequence 121689 from Patent EP1572962.
JD198569 - Sequence 179593 from Patent EP1572962.
JD528131 - Sequence 509155 from Patent EP1572962.
JD540974 - Sequence 521998 from Patent EP1572962.
JD448877 - Sequence 429901 from Patent EP1572962.
JD087175 - Sequence 68199 from Patent EP1572962.
JD262198 - Sequence 243222 from Patent EP1572962.
JD165363 - Sequence 146387 from Patent EP1572962.
JD561145 - Sequence 542169 from Patent EP1572962.
JD071991 - Sequence 53015 from Patent EP1572962.
JD203767 - Sequence 184791 from Patent EP1572962.
JD074171 - Sequence 55195 from Patent EP1572962.
AF086322 - Homo sapiens full length insert cDNA clone ZD53E01.
JD427570 - Sequence 408594 from Patent EP1572962.
JD092818 - Sequence 73842 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8N9A8 (Reactome details) participates in the following event(s):

R-HSA-4419948 CTDNEP1:CNEP1R1 dephosphorylates LPIN
R-HSA-4419969 Depolymerisation of the Nuclear Lamina
R-HSA-2980766 Nuclear Envelope Breakdown
R-HSA-68875 Mitotic Prophase
R-HSA-68886 M Phase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: C16orf69, ENST00000427478.1, ENST00000427478.2, ENST00000427478.3, ENST00000427478.4, ENST00000427478.5, ENST00000427478.6, NEPR1_HUMAN, NM_001281789, Q4G1A9, Q5H9V0, Q8N9A8, Q8NE06, TMEM188, uc319wnu.1, uc319wnu.2
UCSC ID: ENST00000427478.7_5
RefSeq Accession: NM_001281789.2
Protein: Q8N9A8 (aka NEPR1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.