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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CTDNEP1 Gene

protein-coding   GIFtS: 47
GCID: GC17M007147

CTD Nuclear Envelope Phosphatase 1

(Previous name: dullard homolog (Xenopus laevis))
(Previous symbol: DULLARD)
  Search for CTDNEP1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
CTD Nuclear Envelope Phosphatase 11 2     HSA0119162
DULLARD1 2 3     NET562
C-Terminal Domain Nuclear Envelope Phosphatase 11 2     Dullard Homolog2
Serine/Threonine-Protein Phosphatase Dullard2 3     EC 3.1.3.163
Dullard Homolog (Xenopus Laevis)1     

External Ids:    HGNC: 190851   Entrez Gene: 233992   Ensembl: ENSG000001758267   OMIM: 6106845   UniProtKB: O954763   

Export aliases for CTDNEP1 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CTDNEP1 Gene: 
CTDNEP1 (CTD nuclear envelope phosphatase 1) is a protein-coding gene. GO annotations related to this gene include protein binding and protein serine/threonine phosphatase activity.

UniProtKB/Swiss-Prot: CNEP1_HUMAN, O95476
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 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. May antagonize BMP signaling




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CTDNEP1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTDNEP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CTDNEP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CTDNEP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13

CTDNEP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTDNEP1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M007147:  view genomic region     (about GC identifiers)

Start:
7,146,906 bp from pter      End:
7,155,810 bp from pter
Size:
8,905 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CNEP1_HUMAN, O95476 (See protein sequence)
Recommended Name: CTD nuclear envelope phosphatase 1  
Size: 244 amino acids; 28377 Da
Subunit: Interacts with CNEP1R1; the complex dephosphorylates LPIN1 and LPIN2
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane; Single-pass
membrane protein
Secondary accessions: D3DTN7 Q96GQ9

Explore the universe of human proteins at neXtProt for CTDNEP1: NX_O95476

Explore proteomics data for CTDNEP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95476

  • CTDNEP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CTDNEP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001137247.1  NP_056158.2  

    ENSEMBL proteins: 
     ENSP00000460527   ENSP00000460683   ENSP00000461749   ENSP00000458758   ENSP00000321732  
     ENSP00000459866   ENSP00000458763   ENSP00000461122   ENSP00000461567   ENSP00000458408  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope IDA17420445
    GO:0005737cytoplasm IDA--
    GO:0005789endoplasmic reticulum membrane IDA17420445
    GO:0016021integral to membrane IEA--
    GO:0031965nuclear membrane IDA--

    CTDNEP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CTD: Serine/threonine phosphatases / CTD aspartate-based phosphatases

    3 InterPro protein domains:
     IPR023214 HAD-like_dom
     IPR011948 Dullard_phosphatase
     IPR004274 NIF

    Graphical View of Domain Structure for InterPro Entry O95476

    ProtoNet protein and cluster: O95476

    1 Blocks protein domain: IPB004274 NLI interacting factor

    UniProtKB/Swiss-Prot: CNEP1_HUMAN, O95476
    Similarity: Belongs to the dullard family
    Similarity: Contains 1 FCP1 homology domain


    CTDNEP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CNEP1_HUMAN, O95476
    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 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. May antagonize BMP signaling
    Catalytic activity: A phosphoprotein + H(2)O = a protein + phosphate
    Biophysicochemical properties: Kinetic parameters: KM=18 mM for p-nitrophenylphosphate; pH dependence: Optimum pH
    is 5.5;

         Enzyme Number (IUBMB): EC 3.1.3.161

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004722protein serine/threonine phosphatase activity IMP17420445
    GO:0005515protein binding IPI--
    GO:0016791phosphatase activity ----
         
    CTDNEP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CTDNEP1:
     Increased HPV18 LCR reporter a  Synthetic lethal with Ras 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CTDNEP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/46 Interacting proteins for CTDNEP1 (O954761, 3 ENSP000003217324) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CNEP1R1Q8N9A81, ENSP000004056354EBI-5323433,EBI-5323455 STRING: ENSP00000405635
    NANPQ8TBE93I2D: score=4 
    PPP1CAENSP000003260314STRING: ENSP00000326031
    PPP1R12AENSP000002612074STRING: ENSP00000261207
    PPP2CAENSP000004184474STRING: ENSP00000418447
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation IDA17420445
    GO:0006998nuclear envelope organization IDA17420445
    GO:0010867positive regulation of triglyceride biosynthetic process IGI--
    GO:0034504protein localization to nucleus IDA--

    CTDNEP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CTDNEP1 (CNEP1)

    Search CenterWatch for drugs/clinical trials and news about CTDNEP1 / CNEP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CTDNEP1 gene (2 alternative transcripts): 
    NM_001143775.1  NM_015343.4  

    Unigene Cluster for CTDNEP1:

    CTD nuclear envelope phosphatase 1
    Hs.513913  [show with all ESTs]
    Unigene Representative Sequence: NM_015343
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000570828 ENST00000574322(uc002gfd.2 uc002gfe.2) ENST00000573600
    ENST00000574205 ENST00000318988 ENST00000572043 ENST00000570484 ENST00000576613
    ENST00000575783 ENST00000570385 ENST00000570380 ENST00000571409
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AJ011916.1 AY364239.1 BC009295.2 

    24/25 DOTS entries (see all 25):

    DT.99937435  DT.95163850  DT.99957873  DT.450749  DT.120968467  DT.97815358  DT.100822729  DT.100808943 
    DT.120968797  DT.120968540  DT.99968689  DT.100808957  DT.120968539  DT.97860299  DT.120968636  DT.100734388 
    DT.100808950  DT.100808954  DT.87079522  DT.91959307  DT.95370686  DT.100796871  DT.120862573  DT.120968557 

    24/672 AceView cDNA sequences (see all 672):

    AI379130 AA284614 BE615020 AA550788 BM850754 AA298491 CK430552 AA427910 
    AA042837 AA297956 CR624246 BX384546 T32915 CR611348 BM821948 AA297219 
    BQ888567 BG164837 AA477128 AJ346040 BF857582 AI363755 BM851680 CA442960 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CTDNEP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTATAACT
    CTDNEP1 Expression
    About this image


    See CTDNEP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CTDNEP1

    SOURCE GeneReport for Unigene cluster: Hs.513913

    UniProtKB/Swiss-Prot: CNEP1_HUMAN, O95476
    Tissue specificity: Muscle specific with lower expression in other metabolic tissues

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for CTDNEP1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctdnep11 , 5 CTD nuclear envelope phosphatase 11, 5 93.44(n)1
    99.59(a)1
      11 (42.95 cM)5
    671811  NM_026017.21  NP_080293.11 
     699811565 
    lizard
    (Anolis carolinensis)
    Reptilia CTDNEP16
    Uncharacterized protein
    88(a)
    1 ↔ 1
    GL344421.1(21-16420)
    zebrafish
    (Danio rerio)
    Actinopterygii ctdnep1a1 CTD nuclear envelope phosphatase 1a 77.87(n)
    90.57(a)
      492343  NM_001007309.1  NP_001007310.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dd1 Dullard 65.95(n)
    71.79(a)
      33107  NM_134605.2  NP_608449.1 
    worm
    (Caenorhabditis elegans)
    Secernentea scpl-21 Protein SCPL-2 61.14(n)
    70.85(a)
      185802  NM_063128.2  NP_495529.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NEM1(YHR004C)4 Probable catalytic subunit of Nem1p-Spo7p phosphatase more   --   8(113094-111754) 856393  NP_011867.1 


    ENSEMBL Gene Tree for CTDNEP1 (if available)
    TreeFam Gene Tree for CTDNEP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CTDNEP1 gene
    3 SIMAP similar genes for CTDNEP1 using alignment to 7 protein entries:     CNEP1_HUMAN (see all proteins):
    CTDSPL    CTDSP2    CTDSP1

    CTDNEP1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for CTDNEP1
    PGOHUM00000238135 PGOHUM00000235650


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/99 SNPs in CTDNEP1 are shown (see all 99)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0346994
    ----see VAR_0346992 T A mis40--------
    rs1133026101,2
    C--7147873(+) ACCTGA/GGGGCA 4 P L mis10--------
    rs1859387001,2
    --7148297(+) CATAAC/TGAGAT 2 -- int10--------
    rs1407306561,2
    --7148387(+) CGGACA/GAATCA 2 -- int10--------
    rs1908429381,2
    --7148559(+) TAAGCC/TGAGAT 2 -- int10--------
    rs1808670251,2
    --7148567(+) GATCAC/TGCCAC 2 -- int10--------
    rs1861132641,2
    --7148608(+) TCTGTC/GTCAAA 2 -- int10--------
    rs1909659381,2
    --7148680(+) TGAGAA/GGCTGA 2 -- int10--------
    rs1125404021,2
    C,F--7149208(+) AATAAG/CTTGCA 2 -- int11Minor allele frequency- C:0.50NA 2
    rs782383141,2
    --7149213(+) CTTGCA/GTTTCG 2 -- int10--------

    HapMap Linkage Disequilibrium report for CTDNEP1 (7146906 - 7155810 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CTDNEP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2665200CNV Deletion23128226
    esv2422288CNV Deletion17116639
    nsv907637CNV Loss21882294
    dgv3053n71CNV Loss21882294
    nsv907640CNV Loss21882294
    nsv457659CNV Loss19166990
    nsv1963CNV Loss18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CTDNEP1 for disorders           About MalaCards
    OMIM gene information: 610684    OMIM disorders: --


    CTDNEP1 for disorders           About GeneDecksing


    Export disorders for CTDNEP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CTDNEP1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with CTDNEP1)
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    1. Molecular cloning and characterization of dullard: a novel gene required for neural development. (PubMed id 12083771)1, 2, 3 Satow R.... Asashima M. (2002)
    2. Nuclear envelope phosphatase-regulatory subunit 1 (formerly TMEM188) is the metazoan SPO7 ortholog and functions in the lipin activation pathway. (PubMed id 22134922)1, 2 Han S.... Goodman J.M. (2011)
    3. A conserved phosphatase cascade that regulates nuclear membrane biogenesis. (PubMed id 17420445)1, 2 Kim Y....Dixon J.E. (2007)
    4. Dullard promotes degradation and dephosphorylation of BMP receptors and is required for neural induction. (PubMed id 17141153)1, 3 Satow R....Asashima M. (2006)
    5. Homo sapiens dullard protein phosphatase shows a pref erence for the insulin-dependent phosphorylation site of lipin1. (PubMed id 21413788)1 Wu R....Allen K.N. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    8. NovelFam3000 -- uncharacterized human protein domains conserved across model organisms. (PubMed id 16533400)2 Kemmer D.... Wasserman W.W. (2006)
    9. Determinants for dephosphorylation of the RNA polymerase II C- terminal domain by Scp1. (PubMed id 17157258)1 Zhang Y.... Noel J.P. (2006)
    10. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23399 HGNC: 19085 AceView: CLDN7andGABARAPandDULLARD Ensembl:ENSG00000175826 euGenes: HUgn23399
    ECgene: CTDNEP1 H-InvDB: CTDNEP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CTDNEP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CTDNEP1 gene:
    Search GeneIP for patents involving CTDNEP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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