PPP1R3E protein phosphatase 1 regulatory subunit 3E [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1R3Eprovided by HGNC
Official Full Name: protein phosphatase 1 regulatory subunit 3Eprovided by HGNC
Primary source: HGNC:HGNC:14943
See related: Ensembl:ENSG00000235194 MIM:619540; AllianceGenome:HGNC:14943
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
Summary: Predicted to enable [phosphorylase] phosphatase activity; glycogen binding activity; and protein phosphatase 1 binding activity. Predicted to be involved in positive regulation of glycogen biosynthetic process. Predicted to be located in glycogen granule. Predicted to be part of protein phosphatase type 1 complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thyroid (RPKM 5.2), testis (RPKM 5.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (23295652..23302859, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17496654..17503863, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23764861..23772068, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.

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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Markers

SHGC-30969 (e-PCR)
- UniSTS:22794

RH98727 (e-PCR)
- UniSTS:89699

RH78773 (e-PCR)
- UniSTS:31211

RH102162 (e-PCR)
- UniSTS:96496

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables [phosphorylase] phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables glycogen binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein phosphatase 1 binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in glycogen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glycogen biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of glycogen biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in glycogen granule	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of protein phosphatase type 1 complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein phosphatase 1 regulatory subunit 3E

Names: protein phosphatase 1, regulatory (inhibitor) subunit 3E

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_001276318.2 → NP_001263247.1 protein phosphatase 1 regulatory subunit 3E

See identical proteins and their annotated locations for NP_001263247.1

Status: VALIDATED

Source sequence(s)

AK024489, AL049829

Consensus CDS

CCDS61403.1

UniProtKB/Swiss-Prot

D3DS47, Q9H7J1

Related

ENSP00000408288.3, ENST00000452015.9

Conserved Domains (1) summary

pfam03370
Location:156 → 258

CBM_21; Carbohydrate/starch-binding module (family 21)

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

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

23295652..23302859 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

17496654..17503863 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_026862.1: Suppressed sequence

Description

NR_026862.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.