PPP1R16B protein phosphatase 1 regulatory subunit 16B [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1R16Bprovided by HGNC
Official Full Name: protein phosphatase 1 regulatory subunit 16Bprovided by HGNC
Primary source: HGNC:HGNC:15850
See related: Ensembl:ENSG00000101445 MIM:613275; AllianceGenome:HGNC:15850
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: TIMAP; ANKRD4
Summary: The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
Expression: Broad expression in lymph node (RPKM 19.5), brain (RPKM 18.4) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (38805697..38923024)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (40535804..40653075)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (37434340..37551667)

Chromosome 20 - NC_000020.11 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?

TIMAP, a Regulatory Subunit of Protein Phosphatase 1, Inhibits In Vitro Neuronal Differentiation.
Title: TIMAP, a Regulatory Subunit of Protein Phosphatase 1, Inhibits In Vitro Neuronal Differentiation.
The role of LR-TIMAP/PP1c complex in the occurrence and development of no-reflow.
Title: The role of LR-TIMAP/PP1c complex in the occurrence and development of no-reflow.
The TIMAP inhibits myosin phosphatase activity in ECs by competing with MYPT1 for PP1cbeta and blocking the PP1cbeta active site.
Title: TIMAP inhibits endothelial myosin light chain phosphatase by competing with MYPT1 for the catalytic protein phosphatase 1 subunit PP1cβ.
TIMAP is the versatile protein phosphatase 1 regulator in endothelial cells. (Review)
Title: TIMAP, the versatile protein phosphatase 1 regulator in endothelial cells.
NF2 localizes in nucleus when Ser518 is not phosphorylated, while phosphorylated form is present in cytoplasm and plasma membrane. Data suggest that binding of NF2 to TIMAP and EBP50 is critical in nuclear localization of NF2. (NF2 = neurofibromin 2; TIMAP = TGF-beta-inhibited membrane-associated protein; EBP50 = Ezrin-Radixin-Mosein binding phosphoprotein 50)
Title: Regulation of merlin by protein phosphatase 1-TIMAP and EBP50 in endothelial cells.
phosphorylation of TIMAP on Ser331 by PKC represents a new mechanism of endothelial barrier regulation, through the inhibition of phospho-ERM dephosphorylation
Title: PKC mediated phosphorylation of TIMAP regulates PP1c activity and endothelial barrier function.
Results indicate that PKC-phosphorylated ECE-1 is a TIMAP-PP1c substrate and this phosphatase complex has an important role in endothelin-1 production of EC through the regulation of ECE-1 activity.
Title: TIMAP-protein phosphatase 1-complex controls endothelin-1 production via ECE-1 dephosphorylation.
ROCK phosphorylated eEF1A1 is a novel substrate for TIMAP-PP1 underlining the complex regulatory role of TIMAP in the endothelium.
Title: Elongation factor-1A1 is a novel substrate of the protein phosphatase 1-TIMAP complex.
TIMAP promotes angiogenesis by suppressing PTEN-mediated Akt inhibition in human glomerular endothelial cells.
Title: TIMAP promotes angiogenesis by suppressing PTEN-mediated Akt inhibition in human glomerular endothelial cells.
These data confirmed the barrier-protective role of TIMAP
Title: TIMAP protects endothelial barrier from LPS-induced vascular leakage and is down-regulated by LPS.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

AL030969 (e-PCR)
- UniSTS:26152

D20S557E (e-PCR)
- UniSTS:75325

D20S1094 (e-PCR)
- UniSTS:59976

PPP1R16B_1698 (e-PCR)
- UniSTS:280923

A006X16 (e-PCR)
- UniSTS:58989

A001V46 (e-PCR)
- UniSTS:368

G19702 (e-PCR)
- UniSTS:369

SHGC-33075 (e-PCR)
- UniSTS:10394

WI-13717 (e-PCR)
- UniSTS:76450

D20S494 (e-PCR)
- UniSTS:55254

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables myosin phosphatase regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase regulator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in establishment of endothelial barrier	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of endothelial barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of peptidyl-serine dephosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein dephosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of sprouting angiogenesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein phosphatase 1 regulatory inhibitor subunit 16B

Names: CAAX box protein TIMAP; TGF-beta-inhibited membrane-associated protein; ankyrin repeat domain protein 4; ankyrin repeat domain-containing protein 4; hTIMAP; protein phosphatase 1, regulatory (inhibitor) subunit 16B

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_001172735.3 → NP_001166206.1 protein phosphatase 1 regulatory inhibitor subunit 16B isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1. This isoform (2) may undergo similar processing as isoform 1.

Source sequence(s)

AB177855, BC152467, HY125679

Consensus CDS

CCDS54462.1

UniProtKB/Swiss-Prot

Q96T49

Related

ENSP00000362428.1, ENST00000373331.2

Conserved Domains (3) summary

cd00204
Location:71 → 184

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:72 → 164

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:71 → 98

ANK; ANK repeat [structural motif]
NM_015568.4 → NP_056383.1 protein phosphatase 1 regulatory inhibitor subunit 16B isoform 1 precursor

See identical proteins and their annotated locations for NP_056383.1

Status: REVIEWED

Description

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

Source sequence(s)

AB020630, AB177855, BC152467, HY125679

Consensus CDS

CCDS13309.1

UniProtKB/Swiss-Prot

A2RRR6, E9PFS8, O94912, Q5W9G4, Q96T49, Q9NQG4

Related

ENSP00000299824.1, ENST00000299824.6

Conserved Domains (3) summary

cd00204
Location:71 → 184

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:71 → 98

ANK; ANK repeat [structural motif]

cl26073
Location:71 → 301

Ank_2; Ankyrin repeats (3 copies)

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_000020.11 Reference GRCh38.p14 Primary Assembly

Range

38805697..38923024

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528768.4 → XP_011527070.1 protein phosphatase 1 regulatory inhibitor subunit 16B isoform X1

Conserved Domains (5) summary

cd00204
Location:99 → 286

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:109 → 263

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:87 → 125

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:252 → 305

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:104 → 135

ANK; ANK repeat [structural motif]
XM_047440086.1 → XP_047296042.1 protein phosphatase 1 regulatory inhibitor subunit 16B isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

40535804..40653075

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323326.1 → XP_054179301.1 protein phosphatase 1 regulatory inhibitor subunit 16B isoform X1
XM_054323327.1 → XP_054179302.1 protein phosphatase 1 regulatory inhibitor subunit 16B isoform X2