PPP1R14C protein phosphatase 1 regulatory inhibitor subunit 14C [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1R14Cprovided by HGNC
Official Full Name: protein phosphatase 1 regulatory inhibitor subunit 14Cprovided by HGNC
Primary source: HGNC:HGNC:14952
See related: Ensembl:ENSG00000198729 MIM:613242; AllianceGenome:HGNC:14952
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: KEPI; NY-BR-81; CPI17-like
Summary: The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]
Expression: Biased expression in thyroid (RPKM 22.2), heart (RPKM 17.2) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q25.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (150143044..150250392)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (151342372..151450366)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (150464180..150571528)

Chromosome 6 - NC_000006.12 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?

Attempted replication of pharmacogenetic association of variants in PPP1R14C and CCDC148 with aromatase inhibitor-induced musculoskeletal symptoms.
Title: Attempted replication of pharmacogenetic association of variants in PPP1R14C and CCDC148 with aromatase inhibitor-induced musculoskeletal symptoms.
KEPI plays a negative role in the repression that accompanies translational inhibition guided by the uORF element of human CHOP transcript during stress response.
Title: KEPI plays a negative role in the repression that accompanies translational inhibition guided by the uORF element of human CHOP transcript during stress response.
analysis of antibodies generated against the protein phosphatase 1 inhibitor KEPI and characterization of the epitope
Title: Generation of an antibody against the protein phosphatase 1 inhibitor KEPI and characterization of the epitope.
Observational study of gene-disease association. (HuGE Navigator)
Title: SNCA variants are associated with increased risk for multiple system atrophy.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.
regulation by morphine
Title: KEPI, a PKC-dependent protein phosphatase 1 inhibitor regulated by morphine.
PPP1R14C gene encodes a PKC-potentiated inhibitory protein, KEPI, for type-1 Ser/Thr protein phosphatase (PP1). KEPI mRNA and protein were enriched in brain, heart and skeletal muscle.
Title: KEPI, a PKC-dependent protein phosphatase 1 inhibitor regulated by morphine.

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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

EBI GWAS Catalog

Description
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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

RH18363 (e-PCR)
- UniSTS:44303

WIAF-1701 (e-PCR)
- UniSTS:79645

WI-22584 (e-PCR)
- UniSTS:51566

RH47324 (e-PCR)
- UniSTS:29638

RH37415 (e-PCR)
- UniSTS:29907

RH37413 (e-PCR)
- UniSTS:10967

D6S1178E (e-PCR)
- UniSTS:32238

RH18265 (e-PCR)
- UniSTS:17656

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

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

General protein information

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Preferred Names: protein phosphatase 1 regulatory subunit 14C

Names: PKC-potentiated PP1 inhibitory protein; kinase C-enhanced PP1 inhibitor; kinase-enhanced PP1 inhibitor; serologically defined breast cancer antigen NY-BR-81

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.