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

CNEP1R1 Gene

protein-coding   GIFtS: 37
GCID: GC16P050058

CTD Nuclear Envelope Phosphatase 1 Regulatory Subunit 1

(Previous names: chromosome 16 open reading frame 69, transmembrane protein...)
(Previous symbols: C16orf69, TMEM188)
  Search for CNEP1R1
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 1 Regulatory Subunit 11 2     NEP1-R12 3
Transmembrane Protein 1881 2 3     Chromosome 16 Open Reading Frame 691
C16orf691 2 3     TMP1252
TMEM1881 2 3     Nuclear Envelope Phosphatase-Regulatory Subunit 12
Nuclear Envelope Phosphatase 1-Regulatory Subunit 11 2     

External Ids:    HGNC: 267591   Entrez Gene: 2559192   Ensembl: ENSG000002054237   UniProtKB: Q8N9A83   

Export aliases for CNEP1R1 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

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. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: NEPR1_HUMAN, Q8N9A8
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




(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_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CNEP1R1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNEP1R1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CNEP1R1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CNEP1R1


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

Entrez Gene cytogenetic band: 16q12.1   Ensembl cytogenetic band:  16q12.1   HGNC cytogenetic band: 16q12.1

CNEP1R1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNEP1R1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P050058:  view genomic region     (about GC identifiers)

Start:
50,058,321 bp from pter      End:
50,070,999 bp from pter
Size:
12,679 bases      Orientation:
plus 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: NEPR1_HUMAN, Q8N9A8 (See protein sequence)
Recommended Name: Nuclear envelope phosphatase-regulatory subunit 1  
Size: 125 amino acids; 14267 Da
Subunit: Interacts with CTDNEP1; the complex dephosphorylates LPIN1 and LPIN2
Subcellular location: Nucleus membrane; Multi-pass membrane protein. Cytoplasm. Note=Filamentous pattern in the
cytoplasm
Secondary accessions: Q4G1A9 Q5H9V0 Q8NE06
Alternative splicing: 3 isoforms:  Q8N9A8-1   Q8N9A8-2   Q8N9A8-3   

Explore the universe of human proteins at neXtProt for CNEP1R1: NX_Q8N9A8

Explore proteomics data for CNEP1R1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N9A8

  • CNEP1R1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CNEP1R1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001268718.1  NP_694993.2  

    ENSEMBL proteins: 
     ENSP00000405635   ENSP00000373786   ENSP00000456913   ENSP00000456294   ENSP00000454676  
     ENSP00000456686   ENSP00000457787   ENSP00000454356   ENSP00000394224  

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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0016021integral to membrane IEA--
    GO:0031965nuclear membrane IDA--
    GO:0071595Nem1-Spo7 phosphatase complex IDA--

    CNEP1R1 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
    1 InterPro protein domain:
     IPR019168 Transmembrane_protein_188

    Graphical View of Domain Structure for InterPro Entry Q8N9A8

    ProtoNet protein and cluster: Q8N9A8

    UniProtKB/Swiss-Prot: NEPR1_HUMAN, Q8N9A8
    Similarity: Belongs to the CNEP1R1 family


    CNEP1R1 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: NEPR1_HUMAN, Q8N9A8
    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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    CNEP1R1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CNEP1R1:
     Decreased nuclei size in G2M 

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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 CNEP1R1

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

    5/46 Interacting proteins for CNEP1R1 (Q8N9A81 ENSP000004056354) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTDNEP1O954761, ENSP000003217324EBI-5323455,EBI-5323433 STRING: ENSP00000321732
    PPP1CBENSP000002961224STRING: ENSP00000296122
    PPP1CCENSP000003350844STRING: ENSP00000335084
    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:0006629lipid metabolic process IEA--
    GO:0010867positive regulation of triglyceride biosynthetic process IGI--
    GO:0034504protein localization to nucleus IDA--
    GO:0035307positive regulation of protein dephosphorylation IDA--

    CNEP1R1 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 CNEP1R1 (NEPR1)

    Search CenterWatch for drugs/clinical trials and news about CNEP1R1 / NEPR1

    (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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    About This Section

    REFSEQ mRNAs for CNEP1R1 gene (2 alternative transcripts): 
    NM_001281789.1  NM_153261.5  

    Unigene Cluster for CNEP1R1:

    CTD nuclear envelope phosphatase 1 regulatory subunit 1
    Hs.59134  [show with all ESTs]
    Unigene Representative Sequence: BC036683
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000458059(uc002eft.3 uc002efu.3 uc002efv.3) ENST00000389134
    ENST00000567712 ENST00000568890 ENST00000569647 ENST00000566482 ENST00000562576
    ENST00000565457 ENST00000565556 ENST00000566093 ENST00000427478
    miRNA
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    Additional mRNA sequence: 

    AF086322.1 AK095420.1 AK301610.1 AK307132.1 AK307309.1 BC022550.1 BC036683.2 CR933600.1 
    FJ516381.1 

    5 DOTS entries:

    DT.207121  DT.100022838  DT.100703128  DT.100753218  DT.99936066 

    24/36 AceView cDNA sequences (see all 36):

    AF086322 AI205623 AI953357 C01675 BQ026247 BM453911 CA429722 BG703014 
    BI459429 AI340149 BF130902 BU753820 AW661703 CA307674 BC022550 W73443 
    BX332394 BU753218 CB053300 BI460190 W73382 AI935115 AL597465 BC036683 

    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

    CNEP1R1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCAATCTTT
    CNEP1R1 Expression
    About this image


    See CNEP1R1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CNEP1R1

    SOURCE GeneReport for Unigene cluster: Hs.59134

    UniProtKB/Swiss-Prot: NEPR1_HUMAN, Q8N9A8
    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.

    Orthologs for CNEP1R1 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cnep1r15
    Tmem1881
    transmembrane protein 1881, 5 94.13(n)1
    100(a)1
      8 (43.06 cM)5
    3820301  NM_029074.31  NP_083350.21 
     881187695 
    chicken
    (Gallus gallus)
    Aves TMEM1881 transmembrane protein 188 89.6(n)
    98.4(a)
      415736  NM_001198857.1  NP_001185786.1 
    lizard
    (Anolis carolinensis)
    Reptilia CNEP1R16
    Uncharacterized protein
    96(a)
    1 ↔ 1
    2(30815429-30815788)
    African clawed frog
    (Xenopus laevis)
    Amphibia flj38101-prov2 hypothetical protein MGC53849 80.71(n)    BC043898.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cnep1r11 CTD nuclear envelope phosphatase 1 regulatory subunit more 78.67(n)
    94.4(a)
      550572  NM_001017874.1  NP_001017874.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG80091 CG8009 57.39(n)
    61.74(a)
      39204  NM_140143.2  NP_648400.1 
    worm
    (Caenorhabditis elegans)
    Secernentea spo-76
    Nuclear envelope phosphatase-regulatory subunit 1 ...
    30(a)
    1 ↔ 1
    I(8398917-8400511)


    ENSEMBL Gene Tree for CNEP1R1 (if available)
    TreeFam Gene Tree for CNEP1R1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CNEP1R1 gene
    1 SIMAP similar gene for CNEP1R1 using alignment to 5 protein entries:     NEPR1_HUMAN (see all proteins):
    FLJ38101

    CNEP1R1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for CNEP1R1
    PGOHUM00000248912 PGOHUM00000260917


    (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

    10/296 SNPs in CNEP1R1 are shown (see all 296)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1138644201,2
    C--50068460(+) AAATAG/TAGAGT 1 -- int10--------
    rs620329731,2
    C,F--51070199(+) TGCCTG/AGCCTA 1 -- us2k13Minor allele frequency- A:0.07NA WA 240
    rs1151360811,2
    F--51070414(+) ATAAAC/AAATCA 1 -- us2k11Minor allele frequency- A:0.09WA 118
    rs1868450291,2
    --51070465(+) CTTAAC/TATTTA 1 -- us2k10--------
    rs1405761761,2
    --51070569(+) CTATGA/GTGGGT 1 -- us2k10--------
    rs1471512291,2
    C--51070876(+) GATTC-/TTTTTT 1 -- us2k10--------
    rs1429189461,2
    --51070958(+) GTCTCA/CTGGGT 1 -- us2k10--------
    rs1913286721,2
    --51070968(+) TTCAAG/TTGACT 1 -- us2k10--------
    rs1837676631,2
    --51071050(+) TTTCAA/GTAGAA 1 -- us2k10--------
    rs20588151,2
    C,A,H--51071063(-) GACAAC/AACCCT 1 -- us2k112Minor allele frequency- A:0.48NA WA CSA EA 378

    HapMap Linkage Disequilibrium report for CNEP1R1 (50058321 - 50070999 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CNEP1R1: --
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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
      --

    (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 CNEP1R1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CNEP1R1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 3 Han S.... Goodman J.M. (2011)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    5. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
    6. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 255919 HGNC: 26759 AceView: FLJ38101 Ensembl:ENSG00000205423 euGenes: HUgn255919
    ECgene: CNEP1R1 H-InvDB: CNEP1R1

    (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 CNEP1R1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CNEP1R1 gene:
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    GeneCards and IP:
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