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    CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 [ Homo sapiens (human) ]

    Gene ID: 255919, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CNEP1R1provided by HGNC
    Official Full Name
    CTD nuclear envelope phosphatase 1 regulatory subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:26759
    See related
    Ensembl:ENSG00000205423 MIM:616869; AllianceGenome:HGNC:26759
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NEP1R1; TMP125; NEP1-R1; TMEM188; C16orf69
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 11.2), appendix (RPKM 8.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CNEP1R1 in Genome Data Viewer
    Location:
    16q12.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (50025225..50037081)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (55822970..55834826)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (50059136..50070992)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49968907-49969407 Neighboring gene ribosomal protein L34 pseudogene 29 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7464 Neighboring gene nuclear receptor coactivator 5 like, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:50006784-50007284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:50007285-50007785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7465 Neighboring gene NANOG hESC enhancer GRCh37_chr16:50055403-50055909 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:50058825-50059326 Neighboring gene MPRA-validated peak2585 silencer Neighboring gene MPRA-validated peak2586 silencer Neighboring gene MPRA-validated peak2587 silencer Neighboring gene regulation of nuclear pre-mRNA domain containing 1A pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:50080479-50080979 Neighboring gene HEATR3 antisense RNA 1 Neighboring gene actin gamma 1 pseudogene 16

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Structure and mechanism of the human CTDNEP1-NEP1R1 membrane protein phosphatase complex necessary to maintain ER membrane morphology. Gao S, et al. Proc Natl Acad Sci U S A, 2024 May 28. PMID 38776370, Free PMC Article
    2. The endoplasmic reticulum adaptor protein ERAdP initiates NK cell activation via the Ubc13-mediated NF-κB pathway. Chen J, et al. J Immunol, 2015 Feb 1. PMID 25548215
    3. Nuclear envelope phosphatase 1-regulatory subunit 1 (formerly TMEM188) is the metazoan Spo7p ortholog and functions in the lipin activation pathway. Han S, et al. J Biol Chem, 2012 Jan 27. PMID 22134922, Free PMC Article
    4. The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. Kumar R, et al. Nat Commun, 2017 Nov 27. PMID 29180619, Free PMC Article
    5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structure and mechanism of the human CTDNEP1-NEP1R1 membrane protein phosphatase complex necessary to maintain ER membrane morphology.
      Title: Structure and mechanism of the human CTDNEP1-NEP1R1 membrane protein phosphatase complex necessary to maintain ER membrane morphology.
    2. The endoplasmic reticulum adaptor protein ERAdP initiates NK cell activation via the Ubc13-mediated NF-kappaB pathway.
      Title: The endoplasmic reticulum adaptor protein ERAdP initiates NK cell activation via the Ubc13-mediated NF-κB pathway.
    3. Nuclear envelope phosphatase 1-regulatory subunit 1 (formerly TMEM188) is the metazoan Spo7p ortholog and functions in the lipin activation pathway.
      Title: Nuclear envelope phosphatase 1-regulatory subunit 1 (formerly TMEM188) is the metazoan Spo7p ortholog and functions in the lipin activation pathway.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38101, DKFZp313D2416

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase regulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of triglyceride biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Nem1-Spo7 phosphatase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Nem1-Spo7 phosphatase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nuclear envelope phosphatase-regulatory subunit 1
    Names
    nuclear envelope phosphatase 1-regulatory subunit 1
    transmembrane protein 188

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001281789.2 → NP_001268718.1  nuclear envelope phosphatase-regulatory subunit 1 isoform 2

      See identical proteins and their annotated locations for NP_001268718.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as ERAdP) lacks an in-frame exon in the coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AC007610, AK095420, BC036683, HY011229
      Consensus CDS
      CCDS61931.1
      UniProtKB/Swiss-Prot
      Q4G1A9, Q5H9V0, Q8N9A8, Q8NE06
      UniProtKB/TrEMBL
      B4DWN4, B8YCP3
      Related
      ENSP00000394224.2, ENST00000427478.7
      Conserved Domains (1) summary
      pfam09771
      Location:5 → 122
      Tmemb_18A; Transmembrane protein 188

    2. NM_153261.6 → NP_694993.2  nuclear envelope phosphatase-regulatory subunit 1 isoform 1

      See identical proteins and their annotated locations for NP_694993.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC007610, BC036683, HY011229
      Consensus CDS
      CCDS45480.1
      UniProtKB/TrEMBL
      B4DWN4
      Related
      ENSP00000405635.3, ENST00000458059.7
      Conserved Domains (1) summary
      pfam09771
      Location:24 → 139
      Tmemb_18A; Transmembrane protein 188

    RNA

    1. NR_104042.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC007610, BC036683, BP259769, HY011229

    2. NR_104043.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC007610, BC022550, BC036683, HY011229
      Related
      ENST00000568890.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      50025225..50037081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      55822970..55834826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9A8.1 GenPept UniProtKB/Swiss-Prot:Q8N9A8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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