PPP1CB protein phosphatase 1 catalytic subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1CBprovided by HGNC
Official Full Name: protein phosphatase 1 catalytic subunit betaprovided by HGNC
Primary source: HGNC:HGNC:9282
See related: Ensembl:ENSG00000213639 MIM:600590; AllianceGenome:HGNC:9282
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MP; PP1B; PP1c; NSLH2; PP-1B; PPP1CD; PP1beta; PPP1beta; HEL-S-80p
Summary: The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in esophagus (RPKM 80.9), prostate (RPKM 58.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (28751604..28802940)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (28795220..28846552)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (28974470..29025806)

Chromosome 2 - NC_000002.12 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
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?

PP-1beta and PP-2Aalpha modulate cAMP response element-binding protein (CREB) functions in aging control and stress response through de-regulation of alphaB-crystallin gene and p300-p53 signaling axis.
Title: PP-1β and PP-2Aα modulate cAMP response element-binding protein (CREB) functions in aging control and stress response through de-regulation of αB-crystallin gene and p300-p53 signaling axis.
The expression and clinical prognostic value of protein phosphatase 1 catalytic subunit beta in pancreatic cancer.
Title: The expression and clinical prognostic value of protein phosphatase 1 catalytic subunit beta in pancreatic cancer.
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Title: Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
Title: Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone.
Title: A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone.
Integrative genomics analysis of eQTL and GWAS summary data identifies PPP1CB as a novel bone mineral density risk genes.
Title: Integrative genomics analysis of eQTL and GWAS summary data identifies PPP1CB as a novel bone mineral density risk genes.
The association of MYPT1 with PP1cbeta was profoundly reduced in the presence of excess TIMAP, leading to proteasomal MYPT1 degradation.
Title: TIMAP inhibits endothelial myosin light chain phosphatase by competing with MYPT1 for the catalytic protein phosphatase 1 subunit PP1cβ.
our experiments support that PPP1CB and KPC2 together inhibit the activity of HOXA2 by activating its nuclear export, but favored HOXA2 de-ubiquitination and stabilization thereby establishing a store of HOXA2 in the cytoplasm.
Title: HOXA2 activity regulation by cytoplasmic relocation, protein stabilization and post-translational modification.
PPP1CB mutation is associated with Noonan syndrome.
Title: Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
This report gives further support that this novel RASopathy-PPP1CB-related Noonan syndrome with loose anagen hair-shares great similarity to Noonan syndrome-like disorder with loose anagen hair, and expands the phenotypic spectrum by adding the cranial vault abnormality.
Title: The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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

Associated conditions

Description	Tests
Noonan syndrome-like disorder with loose anagen hair 2 MedGen: C4479577 OMIM: 617506 GeneReviews: Not available	Compare labs

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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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Genes, including GABRP, ADF, HINT, PRSS2, SDCBP, PTK9, PPP2R5B, ITGA3, PRKCBP1, HMOX2, HAT1, PPP1cB, and ICAM-1, are upregulated after treatment of human astrocytes with HIV-1 gp120	PubMed
Tat	tat	Protein phosphatase 1, catalytic subunit, beta isoform (PPP1CB) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS	PubMed
	tat	Small molecular compounds prevent the interaction of HIV-1 Tat with protein phosphatase-1 (PP1) and the shuttling of PP1 to the nucleus	PubMed
	tat	PP1 interacts with Tat in part through the binding of Val(36) and Phe(38) of Tat to PP1, and Tat is involved in the nuclear and subnuclear targeting of PP1	PubMed
	tat	Protein phosphatase-2A (PP2A) and protein phosphatase-1 (PP1) regulate HIV-1 Tat-activated transcription through dephosphorylation of CDK9	PubMed
	tat	Stimulation of HIV-1 Tat transactivation by protein phosphatase 1 (PP1) is inhibited by nuclear inhibitor of PP1 (NIPP1), indicating Tat function is regulated by PP1/NIPP1	PubMed
	tat	Protein phosphatase 1 (PP1) associates with HIV-1 Tat and stimulates Tat-mediated transactivation of the HIV-1 LTR promoter	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S392 (e-PCR), detects polymorphism
- UniSTS:69379

Ppp1cb (e-PCR), detects polymorphism
- UniSTS:526868

D2S392 (e-PCR), detects polymorphism
- UniSTS:66857

Ppp1cb (e-PCR), detects polymorphism
- UniSTS:507434

PPP1CB_3843 (e-PCR)
- UniSTS:462442

STS-W67887 (e-PCR)
- UniSTS:78464

RH69523 (e-PCR)
- UniSTS:30373

SHGC-33158 (e-PCR)
- UniSTS:67777

EST16D1 (e-PCR)
- UniSTS:263141

D6S1941 (e-PCR)
- UniSTS:20217

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables myosin phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables myosin-light-chain-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase 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	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in MAPK cascade	TAS Traceable Author Statement more info
involved_in cell cycle	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in circadian regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in entrainment of circadian clock by photoperiod	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycogen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein dephosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of circadian rhythm	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of circadian rhythm	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of PTW/PP1 phosphatase complex	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: serine/threonine-protein phosphatase PP1-beta catalytic subunit

Names: epididymis secretory sperm binding protein Li 80p; myosin phosphatase; protein phosphatase 1, catalytic subunit, beta isozyme; protein phosphatase 1-beta; protein phosphatase 1-delta

NP_002700.1

EC 3.1.3.16

EC 3.1.3.53

NP_996759.1

EC 3.1.3.16

EC 3.1.3.53

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.

Genomic

NG_052878.1 RefSeqGene

Range

5083..56193

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002709.3 → NP_002700.1 serine/threonine-protein phosphatase PP1-beta catalytic subunit isoform 1

See identical proteins and their annotated locations for NP_002700.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. It encodes the longer isoform (1).

Source sequence(s)

BC002697, BE047402, BM835970, BX477003, BX647295, CD722576, X80910

Consensus CDS

CCDS33169.1

UniProtKB/Swiss-Prot

B2R5V4, D6W565, P37140, P62140, Q5U087, Q6FG45

UniProtKB/TrEMBL

A0A8V8TQ71, V9HW04

Related

ENSP00000378769.2, ENST00000395366.3

Conserved Domains (1) summary

cd07414
Location:7 → 297

MPP_PP1_PPKL; PP1, PPKL (PP1 and kelch-like) enzymes, and related proteins, metallophosphatase domain
NM_206876.2 → NP_996759.1 serine/threonine-protein phosphatase PP1-beta catalytic subunit isoform 1

See identical proteins and their annotated locations for NP_996759.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants encode the same isoform (1).

Source sequence(s)

AC097724, AF092905, BE047402, BI551898, BM835970, BQ933435, CB111140, CD656807, CD722576, X80910

Consensus CDS

CCDS33169.1

UniProtKB/Swiss-Prot

B2R5V4, D6W565, P37140, P62140, Q5U087, Q6FG45

UniProtKB/TrEMBL

A0A8V8TQ71, V9HW04

Related

ENSP00000414918.2, ENST00000441461.6

Conserved Domains (1) summary

cd07414
Location:7 → 297

MPP_PP1_PPKL; PP1, PPKL (PP1 and kelch-like) enzymes, and related proteins, metallophosphatase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

28751604..28802940

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

28795220..28846552

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_206877.1: Suppressed sequence

Description

NM_206877.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.