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Aliases for CTDNEP1 Gene

Aliases for CTDNEP1 Gene

  • CTD Nuclear Envelope Phosphatase 1 2 3 3 5
  • C-Terminal Domain Nuclear Envelope Phosphatase 1 2 3
  • Serine/Threonine-Protein Phosphatase Dullard 3 4
  • DULLARD 3 4
  • Dullard Homolog (Xenopus Laevis) 2
  • Dullard Homolog 3
  • EC 3.1.3.16 4
  • HSA011916 3
  • NET56 3

External Ids for CTDNEP1 Gene

Previous HGNC Symbols for CTDNEP1 Gene

  • DULLARD

Previous GeneCards Identifiers for CTDNEP1 Gene

  • GC17M007147

Summaries for CTDNEP1 Gene

GeneCards Summary for CTDNEP1 Gene

CTDNEP1 (CTD Nuclear Envelope Phosphatase 1) is a Protein Coding gene. Among its related pathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA. Gene Ontology (GO) annotations related to this gene include phosphatase activity and protein serine/threonine phosphatase activity. An important paralog of this gene is CTDSP1.

UniProtKB/Swiss-Prot for CTDNEP1 Gene

  • Serine/threonine protein phosphatase forming with CNEP1R1 an active phosphatase complex that 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. May antagonize BMP signaling.

Additional gene information for CTDNEP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTDNEP1 Gene

Genomics for CTDNEP1 Gene

GeneHancer (GH) Regulatory Elements for CTDNEP1 Gene

Promoters and enhancers for CTDNEP1 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
GH17J007256 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 650.4 -8.3 -8307 8.7 HDGF FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 CLDN7 ENSG00000262302 PIR33341 GC17M007249 CTDNEP1 ELP5 YBX2 WRAP53 POLR2A CNTROB
GH17J007247 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.8 1813 6 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ELP5 PIR48144 CTDNEP1 YBX2 DVL2 CTC1 ENSG00000262089 CNTROB WRAP53 PFAS
GH17J007312 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11 -62.1 -62054 4 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 GPS2 GC17M007314 NEURL4 EIF5A ACAP1 SLC2A4 ENSG00000202251 CLDN7 ELP5 CTDNEP1
GH17J007177 Promoter/Enhancer 1.4 Ensembl ENCODE 10.9 +74.6 74642 1.7 ATF1 ARID4B SIN3A DMAP1 YY1 GLIS2 ZNF143 ATF7 SP3 RXRA GC17P007176 ASGR1 ENSG00000262067 LOC105371508 SPEM1 SLC16A11 ACADVL DLG4 SLC16A13 ELP5
GH17J007171 Enhancer 1.1 Ensembl ENCODE 10.9 +78.8 78811 4.2 FOXA2 SIN3A YBX1 GLI4 YY1 ZNF143 ZNF207 KLF7 ZNF548 KLF13 DVL2 CNTROB WRAP53 CYB5D1 NEURL4 NLGN2 SENP3 LOC100996842 SNORD10 ELP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTDNEP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CTDNEP1 Gene

Genomic Locations for CTDNEP1 Gene
chr17:7,243,587-7,252,491
(GRCh38/hg38)
Size:
8,905 bases
Orientation:
Minus strand
chr17:7,146,906-7,155,810
(GRCh37/hg19)
Size:
8,905 bases
Orientation:
Minus strand

Genomic View for CTDNEP1 Gene

Genes around CTDNEP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTDNEP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTDNEP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTDNEP1 Gene

Proteins for CTDNEP1 Gene

  • Protein details for CTDNEP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95476-CNEP1_HUMAN
    Recommended name:
    CTD nuclear envelope phosphatase 1
    Protein Accession:
    O95476
    Secondary Accessions:
    • D3DTN7
    • Q96GQ9

    Protein attributes for CTDNEP1 Gene

    Size:
    244 amino acids
    Molecular mass:
    28377 Da
    Quaternary structure:
    • Interacts with CNEP1R1; the complex dephosphorylates LPIN1 and LPIN2.

neXtProt entry for CTDNEP1 Gene

Post-translational modifications for CTDNEP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CTDNEP1 Gene

Domains & Families for CTDNEP1 Gene

Gene Families for CTDNEP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CTDNEP1 Gene

Suggested Antigen Peptide Sequences for CTDNEP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95476

UniProtKB/Swiss-Prot:

CNEP1_HUMAN :
  • Belongs to the dullard family.
Family:
  • Belongs to the dullard family.
genes like me logo Genes that share domains with CTDNEP1: view

Function for CTDNEP1 Gene

Molecular function for CTDNEP1 Gene

UniProtKB/Swiss-Prot Function:
Serine/threonine protein phosphatase forming with CNEP1R1 an active phosphatase complex that 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. May antagonize BMP signaling.
UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=18 mM for p-nitrophenylphosphate {ECO:0000269 PubMed:17420445}; pH dependence: Optimum pH is 5.5. {ECO:0000269 PubMed:17420445};

Enzyme Numbers (IUBMB) for CTDNEP1 Gene

Phenotypes From GWAS Catalog for CTDNEP1 Gene

Gene Ontology (GO) - Molecular Function for CTDNEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IBA --
GO:0004722 protein serine/threonine phosphatase activity TAS,IMP --
GO:0005515 protein binding IPI 22134922
GO:0008420 CTD phosphatase activity IBA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CTDNEP1: view
genes like me logo Genes that share phenotypes with CTDNEP1: view

Animal Models for CTDNEP1 Gene

MGI Knock Outs for CTDNEP1:

Animal Model Products

CRISPR Products

miRNA for CTDNEP1 Gene

miRTarBase miRNAs that target CTDNEP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTDNEP1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CTDNEP1 Gene

Localization for CTDNEP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTDNEP1 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane; Single-pass membrane protein.

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 CTDNEP1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
mitochondrion 3
peroxisome 2
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTDNEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005737 cytoplasm IDA 22134922
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA,IEA 17420445
genes like me logo Genes that share ontologies with CTDNEP1: view

Pathways & Interactions for CTDNEP1 Gene

genes like me logo Genes that share pathways with CTDNEP1: view

Pathways by source for CTDNEP1 Gene

SIGNOR curated interactions for CTDNEP1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for CTDNEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IDA 17420445
GO:0006998 nuclear envelope organization IDA 17420445
GO:0007077 mitotic nuclear envelope disassembly TAS --
GO:0007276 gamete generation IEA --
GO:0007498 mesoderm development IEA --
genes like me logo Genes that share ontologies with CTDNEP1: view

Drugs & Compounds for CTDNEP1 Gene

(2) Drugs for CTDNEP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(1) Additional Compounds for CTDNEP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with CTDNEP1: view

Transcripts for CTDNEP1 Gene

mRNA/cDNA for CTDNEP1 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(672) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CTDNEP1 Gene

CTD nuclear envelope phosphatase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTDNEP1

Alternative Splicing Database (ASD) splice patterns (SP) for CTDNEP1 Gene

No ASD Table

Relevant External Links for CTDNEP1 Gene

GeneLoc Exon Structure for
CTDNEP1
ECgene alternative splicing isoforms for
CTDNEP1

Expression for CTDNEP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTDNEP1 Gene

Protein differential expression in normal tissues from HIPED for CTDNEP1 Gene

This gene is overexpressed in Lung (19.0), Fetal gut (7.5), Testis (7.1), and CD8 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTDNEP1 Gene



Protein tissue co-expression partners for CTDNEP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CTDNEP1 Gene:

CTDNEP1

SOURCE GeneReport for Unigene cluster for CTDNEP1 Gene:

Hs.513913

mRNA Expression by UniProt/SwissProt for CTDNEP1 Gene:

O95476-CNEP1_HUMAN
Tissue specificity: Muscle specific with lower expression in other metabolic tissues.

Evidence on tissue expression from TISSUES for CTDNEP1 Gene

  • Nervous system(4.8)
  • Muscle(4.6)
  • Pancreas(2.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with CTDNEP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTDNEP1 Gene

Orthologs for CTDNEP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CTDNEP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTDNEP1 34 33
  • 99.86 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CTDNEP1 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CTDNEP1 34 33
  • 96.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CTDNEP1 34 33
  • 95.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctdnep1 33
  • 94.26 (n)
mouse
(Mus musculus)
Mammalia Ctdnep1 16 34 33
  • 93.44 (n)
lizard
(Anolis carolinensis)
Reptilia CTDNEP1 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctdnep1 33
  • 76.91 (n)
zebrafish
(Danio rerio)
Actinopterygii ctdnep1b 34
  • 89 (a)
OneToMany
ctdnep1a 34 33
  • 77.87 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Dd 34 33
  • 65.54 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006231 33
  • 64.98 (n)
worm
(Caenorhabditis elegans)
Secernentea scpl-2 33
  • 59.38 (n)
cnep-1 34
  • 59 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NEM1 36 34
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9125 34
  • 56 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU08948 33
  • 54.1 (n)
Species where no ortholog for CTDNEP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 CTDNEP1 Gene

ENSEMBL:
Gene Tree for CTDNEP1 (if available)
TreeFam:
Gene Tree for CTDNEP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTDNEP1: view image

Paralogs for CTDNEP1 Gene

Paralogs for CTDNEP1 Gene

(3) SIMAP similar genes for CTDNEP1 Gene using alignment to 7 proteins:

  • CNEP1_HUMAN
  • I3L0X6_HUMAN
  • I3L1D9_HUMAN
  • I3L2R5_HUMAN
  • I3L3K5_HUMAN
  • I3L4B2_HUMAN
  • I3L4W0_HUMAN

Pseudogenes.org Pseudogenes for CTDNEP1 Gene

genes like me logo Genes that share paralogs with CTDNEP1: view

Variants for CTDNEP1 Gene

Sequence variations from dbSNP and Humsavar for CTDNEP1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000358411 -- 7,245,406(-) G/T intron_variant
rs1000925641 -- 7,250,300(-) T/C intron_variant
rs1001311160 -- 7,243,687(-) T/C 3_prime_UTR_variant
rs1001722108 -- 7,247,383(-) G/A/T intron_variant
rs1001815552 -- 7,253,480(-) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CTDNEP1 Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV deletion 17116639
esv2665200 CNV deletion 23128226
esv3639861 CNV loss 21293372
nsv1963 CNV deletion 18451855
nsv457659 CNV loss 19166990
nsv574322 CNV loss 21841781
nsv952118 CNV deletion 24416366

Variation tolerance for CTDNEP1 Gene

Residual Variation Intolerance Score: 32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.27; 76.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTDNEP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTDNEP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTDNEP1 Gene

Disorders for CTDNEP1 Gene

Additional Disease Information for CTDNEP1

No disorders were found for CTDNEP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CTDNEP1 Gene

Publications for CTDNEP1 Gene

  1. Molecular cloning and characterization of dullard: a novel gene required for neural development. (PMID: 12083771) Satow R … Asashima M (Biochemical and biophysical research communications 2002) 2 3 4 58
  2. 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) 3 4 58
  3. A conserved phosphatase cascade that regulates nuclear membrane biogenesis. (PMID: 17420445) Kim Y … Dixon JE (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 58
  4. Dullard promotes degradation and dephosphorylation of BMP receptors and is required for neural induction. (PMID: 17141153) Satow R … Asashima M (Developmental cell 2006) 2 3 58
  5. Two Triacylglycerol Pathway Genes, CTDNEP1 and LPIN1, are Down-Regulated by hsa-miR-122-5p in Hepatocytes. (PMID: 28287811) Naderi M … Soleimani M (Archives of Iranian medicine 2017) 3 58

Products for CTDNEP1 Gene

Sources for CTDNEP1 Gene

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