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

Summary

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, Nov 2024]
Expression: Ubiquitous expression in spleen (RPKM 30.6), appendix (RPKM 29.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure.
Title: Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 3.1.3.16

NP_056158.2

EC 3.1.3.16

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)

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
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