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. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] See more...

Aliases for CNEP1R1 Gene

Aliases for CNEP1R1 Gene

  • CTD Nuclear Envelope Phosphatase 1 Regulatory Subunit 1 2 3 5
  • Transmembrane Protein 188 2 3 4
  • Nuclear Envelope Phosphatase 1-Regulatory Subunit 1 2 3
  • Nuclear Envelope Phosphatase-Regulatory Subunit 1 3 4
  • C16orf69 3 4
  • TMEM188 3 4
  • NEP1-R1 3 4
  • Chromosome 16 Open Reading Frame 69 2
  • NEP1R1 3
  • TMP125 3

External Ids for CNEP1R1 Gene

Previous HGNC Symbols for CNEP1R1 Gene

  • C16orf69
  • TMEM188

Previous GeneCards Identifiers for CNEP1R1 Gene

  • GC16P050058

Summaries for CNEP1R1 Gene

Entrez Gene Summary for CNEP1R1 Gene

  • 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. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for CNEP1R1 Gene

CNEP1R1 (CTD Nuclear Envelope Phosphatase 1 Regulatory Subunit 1) is a Protein Coding gene. Diseases associated with CNEP1R1 include Nemaline Myopathy 1. Among its related pathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA.

UniProtKB/Swiss-Prot Summary for CNEP1R1 Gene

  • 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 different 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.

Additional gene information for CNEP1R1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNEP1R1 Gene

Genomics for CNEP1R1 Gene

GeneHancer (GH) Regulatory Elements for CNEP1R1 Gene

Promoters and enhancers for CNEP1R1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J050024 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.4 1391 2.8 HNRNPK ZNF217 EP300 CTCF SIN3A TCF12 POLR2G SP1 PHF8 FOS CNEP1R1 HEATR3 BRD7 lnc-CNEP1R1-1 RF00017-2068 lnc-ZNF423-5
GH16J050263 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 +242.3 242280 5.8 CTCF SIN3A JUND FOS ZNF10 ZIC2 POLR2A ZBTB11 TCF7 MYC lnc-PAPD5-2 CNEP1R1 BRD7 TENT4B NKD1 CYLD ADCY7 MIR6771
GH16J050151 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 10.7 +129.7 129670 4.6 EP300 FOXK2 HNRNPK SIN3A NRF1 POLR2G SP1 NCOR1 PHF8 ZFX TENT4B HEATR3 SNX20 CNEP1R1 BRD7 piR-32603
GH16J050296 Enhancer 1 Ensembl dbSUPER 10.4 +273.2 273190 1.2 NCOR1 ZIC2 KDM6A ZBTB25 ZBTB7A ZKSCAN8 MXI1 ZSCAN9 PCBP1 FOXA2 CNEP1R1 MIR6771 lnc-ADCY7-3 ADCY7
GH16J050374 Enhancer 1 Ensembl ENCODE 10 +350.6 350585 0.4 CTCF ZNF10 REST ZBTB25 TGIF2 RAD21 TEAD1 ZBTB26 ZKSCAN8 ZSCAN9 TENT4B CNEP1R1 ENSG00000205414 BRD7 HSALNG0111337
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNEP1R1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNEP1R1

Genomic Locations for CNEP1R1 Gene

Genomic Locations for CNEP1R1 Gene
chr16:50,024,410-50,037,088
(GRCh38/hg38)
Size:
12,679 bases
Orientation:
Plus strand
chr16:50,058,321-50,070,999
(GRCh37/hg19)
Size:
12,679 bases
Orientation:
Plus strand

Genomic View for CNEP1R1 Gene

Genes around CNEP1R1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNEP1R1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNEP1R1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNEP1R1 Gene

Proteins for CNEP1R1 Gene

  • Protein details for CNEP1R1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9A8-NEPR1_HUMAN
    Recommended name:
    Nuclear envelope phosphatase-regulatory subunit 1
    Protein Accession:
    Q8N9A8
    Secondary Accessions:
    • Q4G1A9
    • Q5H9V0
    • Q8NE06

    Protein attributes for CNEP1R1 Gene

    Size:
    125 amino acids
    Molecular mass:
    14267 Da
    Quaternary structure:
    • Interacts with CTDNEP1; the complex dephosphorylates LPIN1 and LPIN2.

    Alternative splice isoforms for CNEP1R1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNEP1R1 Gene

Post-translational modifications for CNEP1R1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CNEP1R1 Gene

Domains & Families for CNEP1R1 Gene

Gene Families for CNEP1R1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CNEP1R1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNEP1R1 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 188 (TM188_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N9A8

UniProtKB/Swiss-Prot:

NEPR1_HUMAN :
  • Belongs to the CNEP1R1 family.
Family:
  • Belongs to the CNEP1R1 family.
genes like me logo Genes that share domains with CNEP1R1: view

Function for CNEP1R1 Gene

Molecular function for CNEP1R1 Gene

UniProtKB/Swiss-Prot 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 different 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.

Phenotypes From GWAS Catalog for CNEP1R1 Gene

Gene Ontology (GO) - Molecular Function for CNEP1R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22134922
genes like me logo Genes that share ontologies with CNEP1R1: view
genes like me logo Genes that share phenotypes with CNEP1R1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNEP1R1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CNEP1R1 Gene

Localization for CNEP1R1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNEP1R1 Gene

Nucleus membrane; Multi-pass membrane protein. Cytoplasm. Note=Filamentous pattern in the cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNEP1R1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
extracellular 1
endoplasmic reticulum 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CNEP1R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005737 cytoplasm IDA,IEA 22134922
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CNEP1R1: view

Pathways & Interactions for CNEP1R1 Gene

genes like me logo Genes that share pathways with CNEP1R1: view

Pathways by source for CNEP1R1 Gene

Gene Ontology (GO) - Biological Process for CNEP1R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0007077 mitotic nuclear envelope disassembly TAS --
GO:0010867 positive regulation of triglyceride biosynthetic process IGI 22134922
GO:0034504 protein localization to nucleus IDA 22134922
GO:0035307 positive regulation of protein dephosphorylation IDA 22134922
genes like me logo Genes that share ontologies with CNEP1R1: view

No data available for SIGNOR curated interactions for CNEP1R1 Gene

Drugs & Compounds for CNEP1R1 Gene

No Compound Related Data Available

Transcripts for CNEP1R1 Gene

mRNA/cDNA for CNEP1R1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNEP1R1

Alternative Splicing Database (ASD) splice patterns (SP) for CNEP1R1 Gene

No ASD Table

Relevant External Links for CNEP1R1 Gene

GeneLoc Exon Structure for
CNEP1R1

Expression for CNEP1R1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNEP1R1 Gene

Protein differential expression in normal tissues from HIPED for CNEP1R1 Gene

This gene is overexpressed in Bone (16.9), Lung (16.6), Placenta (11.1), and Testis (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CNEP1R1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNEP1R1

SOURCE GeneReport for Unigene cluster for CNEP1R1 Gene:

Hs.59134

mRNA Expression by UniProt/SwissProt for CNEP1R1 Gene:

Q8N9A8-NEPR1_HUMAN
Tissue specificity: Muscle specific with lower expression in other metabolic tissues.

Evidence on tissue expression from TISSUES for CNEP1R1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CNEP1R1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNEP1R1 Gene

Orthologs for CNEP1R1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNEP1R1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM188 31
  • 100 (a)
OneToOne
CNEP1R1 30
  • 99.77 (n)
mouse
(Mus musculus)
Mammalia Cnep1r1 17 31 30
  • 94.13 (n)
cow
(Bos Taurus)
Mammalia CNEP1R1 31 30
  • 93.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cnep1r1 30
  • 92.53 (n)
dog
(Canis familiaris)
Mammalia CNEP1R1 31 30
  • 90.85 (n)
OneToOne
chicken
(Gallus gallus)
Aves CNEP1R1 31 30
  • 89.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNEP1R1 31
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cnep1r1 30
  • 82.13 (n)
Str.1469 30
African clawed frog
(Xenopus laevis)
Amphibia flj38101-prov 30
zebrafish
(Danio rerio)
Actinopterygii cnep1r1 31 30
  • 78.67 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10209 30
fruit fly
(Drosophila melanogaster)
Insecta CG8009 31 30
  • 57.39 (n)
OneToMany
CG41106 31
  • 32 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005430 30
  • 52.94 (n)
worm
(Caenorhabditis elegans)
Secernentea nepr-1 31
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 70 (a)
OneToOne
Cin.4360 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4360 30
Species where no ortholog for CNEP1R1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNEP1R1 Gene

ENSEMBL:
Gene Tree for CNEP1R1 (if available)
TreeFam:
Gene Tree for CNEP1R1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNEP1R1: view image

Paralogs for CNEP1R1 Gene

(1) SIMAP similar genes for CNEP1R1 Gene using alignment to 5 proteins:

  • NEPR1_HUMAN
  • H3BLY8_HUMAN
  • H3BMF1_HUMAN
  • H3BN40_HUMAN
  • H3BUT5_HUMAN

Pseudogenes.org Pseudogenes for CNEP1R1 Gene

genes like me logo Genes that share paralogs with CNEP1R1: view

No data available for Paralogs for CNEP1R1 Gene

Variants for CNEP1R1 Gene

Additional dbSNP identifiers (rs#s) for CNEP1R1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CNEP1R1 Gene

Variant ID Type Subtype PubMed ID
esv3892857 CNV gain 25118596
nsv1063991 CNV gain 25217958
nsv1066081 CNV gain 25217958
nsv572591 CNV gain 21841781

Variation tolerance for CNEP1R1 Gene

Residual Variation Intolerance Score: 64.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNEP1R1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNEP1R1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNEP1R1 Gene

Disorders for CNEP1R1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CNEP1R1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
nemaline myopathy 1
  • nem1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CNEP1R1

genes like me logo Genes that share disorders with CNEP1R1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNEP1R1 Gene

Publications for CNEP1R1 Gene

  1. Nuclear envelope phosphatase 1-regulatory subunit 1 (formerly TMEM188) is the metazoan Spo7p ortholog and functions in the lipin activation pathway. (PMID: 22134922) Han S … Goodman JM (The Journal of biological chemistry 2012) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. (PMID: 29180619) Kumar R … Vertegaal ACO (Nature communications 2017) 3 54
  4. The endoplasmic reticulum adaptor protein ERAdP initiates NK cell activation via the Ubc13-mediated NF-κB pathway. (PMID: 25548215) Chen J … Fan Z (Journal of immunology (Baltimore, Md. : 1950) 2015) 3 54
  5. N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P … Aldabe R (Proceedings of the National Academy of Sciences of the United States of America 2012) 4 54

Products for CNEP1R1 Gene

Sources for CNEP1R1 Gene