PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1R14Dprovided by HGNC
Official Full Name: protein phosphatase 1 regulatory inhibitor subunit 14Dprovided by HGNC
Primary source: HGNC:HGNC:14953
See related: Ensembl:ENSG00000166143 MIM:613256; AllianceGenome:HGNC:14953
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: GBPI1; GBPI-1; CPI17-like
Summary: Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010]
Expression: Biased expression in duodenum (RPKM 31.1), colon (RPKM 28.0) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q15.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (40815451..40828708, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (38621477..38634737, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (41107649..41120906, complement)

Chromosome 15 - NC_000015.10 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?

PPP1R14D promotes the proliferation, migration and invasion of lung adenocarcinoma via the PKCalpha/BRAF/MEK/ERK signaling pathway.
Title: PPP1R14D promotes the proliferation, migration and invasion of lung adenocarcinoma via the PKCα/BRAF/MEK/ERK signaling pathway.
A gastrointestinal- and brain-specific PP1 inhibitory protein (GBPI-1)is activated by PKC phosphorylation. A longer GBPI-2 splice variant mRNA is found in testes.
Title: GBPI, a novel gastrointestinal- and brain-specific PP1-inhibitory protein, is activated by PKC and inactivated by PKA.

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Phenotypes

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of protein phosphatase 1, regulatory subunit 14D (PPP1R14D) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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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

PPP1R14D_2784 (e-PCR)
- UniSTS:462444

NoName (e-PCR)
- UniSTS:484002

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein serine/threonine phosphatase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine phosphatase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein phosphatase 1 regulatory subunit 14D

Names: PKC-dependent PP1 inhibitory protein; gastrointestinal and brain-specific PP1-inhibitory protein 1; gut and brain phosphatase inhibitor 1

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_001130143.2 → NP_001123615.1 protein phosphatase 1 regulatory subunit 14D isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).

Source sequence(s)

AI963626, BC098150

Consensus CDS

CCDS45230.1

UniProtKB/TrEMBL

E9PAT1

Related

ENSP00000398342.2, ENST00000427255.2

Conserved Domains (2) summary

pfam05361
Location:27 → 84

PP1_inhibitor; PKC-activated protein phosphatase-1 inhibitor

pfam13900
Location:101 → 123

GVQW; Putative domain of unknown function
NM_017726.8 → NP_060196.1 protein phosphatase 1 regulatory subunit 14D isoform 1

See identical proteins and their annotated locations for NP_060196.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks an exon in the coding region, compared to variant 2, resulting in a frameshift and a protein (isoform 1) with a truncated C-terminus, compared to isoform 2.

Source sequence(s)

AI963626, AY050671

Consensus CDS

CCDS10066.1

UniProtKB/Swiss-Prot

Q4V773, Q9NXH3

Related

ENSP00000299174.6, ENST00000299174.10

Conserved Domains (1) summary

pfam05361
Location:27 → 139

PP1_inhibitor; PKC-activated protein phosphatase-1 inhibitor