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

Gene ID: 255919, updated on 14-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 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,
  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

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