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CTDNEP1 CTD nuclear envelope phosphatase 1 [ Homo sapiens (human) ]

Gene ID: 23399, updated on 10-Dec-2024

Summary

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Official Symbol
CTDNEP1provided by HGNC
Official Full Name
CTD nuclear envelope phosphatase 1provided by HGNC
Primary source
HGNC:HGNC:19085
See related
Ensembl:ENSG00000175826 MIM:610684; AllianceGenome:HGNC:19085
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NET56; DULLARD; HSA011916
Summary
Enables protein serine/threonine phosphatase activity. Involved in several processes, including positive regulation of triglyceride biosynthetic process; protein dephosphorylation; and protein localization to nucleus. Located in endoplasmic reticulum membrane; lipid droplet; and nuclear membrane. Part of Nem1-Spo7 phosphatase complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in spleen (RPKM 30.6), appendix (RPKM 29.9) and 25 other tissues See more
Orthologs
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Genomic context

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See CTDNEP1 in Genome Data Viewer
Location:
17p13.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7243591..7251978, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7144513..7152901, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7146910..7155297, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7128275-7128774 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7132793-7133992 Neighboring gene dishevelled segment polarity protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8090 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7142377-7143026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11605 Neighboring gene PHD finger protein 23 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7144925-7145476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7145477-7146028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8094 Neighboring gene GABA type A receptor-associated protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7154656-7155243 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7155244-7155832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8097 Neighboring gene elongator acetyltransferase complex subunit 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8098 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7164637-7165600 Neighboring gene Sharpr-MPRA regulatory region 7888 Neighboring gene claudin 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7185283-7186270 Neighboring gene solute carrier family 2 member 4

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. Dullard promotes degradation and dephosphorylation of BMP receptors and is required for neural induction. Satow R, et al. Dev Cell, 2006 Dec. PMID 17141153
  2. Determinants for dephosphorylation of the RNA polymerase II C-terminal domain by Scp1. Zhang Y, et al. Mol Cell, 2006 Dec 8. PMID 17157258, Free PMC Article
  3. 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
  4. Homo sapiens dullard protein phosphatase shows a preference for the insulin-dependent phosphorylation site of lipin1. Wu R, et al. Biochemistry, 2011 Apr 19. PMID 21413788, Free PMC Article
  5. Molecular cloning and characterization of dullard: a novel gene required for neural development. Satow R, et al. Biochem Biophys Res Commun, 2002 Jul 5. PMID 12083771

See all (28) 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. Loss of phosphatase CTDNEP1 potentiates aggressive medulloblastoma by triggering MYC amplification and genomic instability.
    Title: Loss of phosphatase CTDNEP1 potentiates aggressive medulloblastoma by triggering MYC amplification and genomic instability.
  3. Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure.
    Title: Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure.
  4. CTDNEP1 is upregulated in non-alcoholic fatty liver disease. Up-regulation of miR-122 can trigger the compensatory response of LPIN1 and CTDNEP1 in hepatosteatosis.
    Title: Two Triacylglycerol Pathway Genes, CTDNEP1 and LPIN1, are Down-Regulated by hsa-miR-122-5p in Hepatocytes.
  5. dullard shows specificity for the peptide corresponding to the insulin-dependent phosphorylation site (Ser106) of lipin
    Title: Homo sapiens dullard protein phosphatase shows a preference for the insulin-dependent phosphorylation site of lipin1.
  6. Dullard participates in a unique phosphatase cascade regulating nuclear membrane biogenesis, a cascade that is conserved from yeast to mammals.
    Title: A conserved phosphatase cascade that regulates nuclear membrane biogenesis.
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables MAP kinase serine/threonine phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables calmodulin-dependent protein phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H2AXS140 phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables myosin phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein serine/threonine phosphatase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein serine/threonine phosphatase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in gamete generation IEA
Inferred from Electronic Annotation
more info
  
involved_in mesoderm development IEA
Inferred from Electronic Annotation
more info
  
involved_in mitotic nuclear membrane disassembly TAS
Traceable Author Statement
more info
  
involved_in nuclear envelope organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of canonical Wnt signaling pathway 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 dephosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein localization to nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of Nem1-Spo7 phosphatase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lipid droplet IDA
Inferred from Direct Assay
more info
  
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 
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
CTD nuclear envelope phosphatase 1
Names
C-terminal domain nuclear envelope phosphatase 1
dullard homolog
serine/threonine-protein phosphatase dullard
NP_001137247.1
NP_056158.2

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_001143775.2 → NP_001137247.1  CTD nuclear envelope phosphatase 1

    See identical proteins and their annotated locations for NP_001137247.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC003688, AC120057, BC009295
    Consensus CDS
    CCDS11093.1
    UniProtKB/Swiss-Prot
    D3DTN7, O95476, Q96GQ9
    UniProtKB/TrEMBL
    I3L4B2
    Related
    ENSP00000460683.1, ENST00000574322.6
    Conserved Domains (1) summary
    TIGR02251
    Location:61 → 229
    HIF-SF_euk; Dullard-like phosphatase domain

  2. NM_015343.5 → NP_056158.2  CTD nuclear envelope phosphatase 1

    See identical proteins and their annotated locations for NP_056158.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AC003688, AC120057, BC009295
    Consensus CDS
    CCDS11093.1
    UniProtKB/Swiss-Prot
    D3DTN7, O95476, Q96GQ9
    UniProtKB/TrEMBL
    I3L4B2
    Related
    ENSP00000321732.6, ENST00000318988.10
    Conserved Domains (1) summary
    TIGR02251
    Location:61 → 229
    HIF-SF_euk; Dullard-like phosphatase domain

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    7243591..7251978 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021160020.1 Reference GRCh38.p14 PATCHES

    Range
    1354..7306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    7144513..7152901 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95476.2 GenPept UniProtKB/Swiss-Prot:O95476

Gene LinkOut

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

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