Format

Send to:

Choose Destination

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

Gene ID: 255919, updated on 11-Sep-2019

Summary

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
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

Genomic context

See CNEP1R1 in Genome Data Viewer
Location:
16q12.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (50025206..50037088)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (50059121..50070999)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4070 Neighboring gene ribosomal protein L34 pseudogene 29 Neighboring gene regulation of nuclear pre-mRNA domain containing 1A pseudogene Neighboring gene actin gamma 1 pseudogene 16

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Depolymerisation of the Nuclear Lamina, organism-specific biosystem (from REACTOME)
    Depolymerisation of the Nuclear Lamina, organism-specific biosystemThe nuclear envelope breakdown in mitotic prophase involves depolymerisation of lamin filaments, the main constituents of the nuclear lamina. The nuclear lamina is located at the nuclear face of the ...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Prophase, organism-specific biosystem (from REACTOME)
    Mitotic Prophase, organism-specific biosystemDuring prophase, the chromatin in the nucleus condenses, and the nucleolus disappears. Centrioles begin moving to the opposite poles or sides of the cell. Some of the fibers that extend from the cen...
  • Nuclear Envelope Breakdown, organism-specific biosystem (from REACTOME)
    Nuclear Envelope Breakdown, organism-specific biosystemThe nuclear envelope breakdown (NEBD) happens in late prophase of mitosis and involves disassembly of the nuclear pore complex, depolymerization of the nuclear lamina, and clearance of nuclear envelo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38101, DKFZp313D2416

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
mitotic nuclear envelope disassembly TAS
Traceable Author Statement
more info
 
positive regulation of protein dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of triglyceride biosynthetic process IGI
Inferred from Genetic Interaction
more info
PubMed 
protein localization to nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Nem1-Spo7 phosphatase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope TAS
Traceable Author Statement
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001281789.1NP_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
    Q8N9A8
    UniProtKB/TrEMBL
    B8YCP3
    Related
    ENSP00000394224.2, ENST00000427478.6
    Conserved Domains (1) summary
    pfam09771
    Location:5122
    Tmemb_18A; Transmembrane protein 188
  2. NM_153261.5NP_694993.2  nuclear envelope phosphatase-regulatory subunit 1 isoform1

    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/Swiss-Prot
    Q8N9A8
    Related
    ENSP00000405635.3, ENST00000458059.7
    Conserved Domains (1) summary
    pfam09771
    Location:24139
    Tmemb_18A; Transmembrane protein 188

RNA

  1. NR_104042.1 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_104043.1 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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    50025206..50037088
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center