PPP1R12C protein phosphatase 1 regulatory subunit 12C [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1R12Cprovided by HGNC
Official Full Name: protein phosphatase 1 regulatory subunit 12Cprovided by HGNC
Primary source: HGNC:HGNC:14947
See related: Ensembl:ENSG00000125503 MIM:613245; AllianceGenome:HGNC:14947
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: p84; p85; AAVS1; LENG3; MBS85
Summary: The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
Expression: Ubiquitous expression in testis (RPKM 32.8), endometrium (RPKM 32.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.42

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (55090918..55117637, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (58185408..58211313, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (55602286..55629005, complement)

Chromosome 19 - NC_000019.10 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 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?

PPP1R12C Promotes Atrial Hypocontractility in Atrial Fibrillation.
Title: PPP1R12C Promotes Atrial Hypocontractility in Atrial Fibrillation.
Authors demonstrate that Rep proteins of adeno-associated virus serotype 2 efficiently repress expression from the target site PPP1R12C promoter.
Title: Adeno-associated virus Rep represses the human integration site promoter by two pathways that are similar to those required for the regulation of the viral p5 promoter.
M-RIP can assemble a complex containing both RhoA and Myosin phosphatase myosin binding subunit, suggesting that M-RIP may play a role in myosin phosphatase regulation by RhoA
Title: Myosin phosphatase-Rho interacting protein. A new member of the myosin phosphatase complex that directly binds RhoA.

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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

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 12C (PPP1R12C) 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

PMC104024P1 (e-PCR)
- UniSTS:270100

PMC102077P1 (e-PCR)
- UniSTS:270069

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 kinase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in neuron projection morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in stress fiber	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein phosphatase 1 regulatory subunit 12C

Names: leukocyte receptor cluster (LRC) encoded novel gene 3; leukocyte receptor cluster (LRC) member 3; myosin-binding subunit 85; protein phosphatase 1 myosin-binding subunit of 85 kDa; protein phosphatase 1 myosin-binding subunit p85; protein phosphatase 1, regulatory (inhibitor) subunit 12C

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_001271618.2 → NP_001258547.1 protein phosphatase 1 regulatory subunit 12C isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site. The encoded isoform (b) is shorter compared to isoform a.

Source sequence(s)

AA551617, AB209452, AC010327, AF312028, BC008030, HY013088

UniProtKB/TrEMBL

K7EL81

Related

ENSP00000465957.1, ENST00000592993.1

Conserved Domains (6) summary

cd00204
Location:95 → 279

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:105 → 257

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:246 → 300

Ank_5; Ankyrin repeats (many copies)

pfam15265
Location:423 → 621

FAM196; FAM196 family

pfam15898
Location:681 → 779

PRKG1_interact; cGMP-dependent protein kinase interacting domain

sd00045
Location:100 → 131

ANK; ANK repeat [structural motif]
NM_017607.4 → NP_060077.1 protein phosphatase 1 regulatory subunit 12C isoform a

See identical proteins and their annotated locations for NP_060077.1

Status: REVIEWED

Description

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

Source sequence(s)

AC010327, AF312028, HY013088

Consensus CDS

CCDS12916.1

UniProtKB/Swiss-Prot

B4DME2, Q59FK8, Q6ZPD1, Q7L8F7, Q96HW1, Q9BZL4, Q9H5H5, Q9NT00

UniProtKB/TrEMBL

K7EL81

Related

ENSP00000263433.1, ENST00000263433.8

Conserved Domains (6) summary

cd00204
Location:95 → 279

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:105 → 257

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:246 → 300

Ank_5; Ankyrin repeats (many copies)

pfam15265
Location:424 → 624

FAM196; FAM196 family

pfam15898
Location:683 → 781

PRKG1_interact; cGMP-dependent protein kinase interacting domain

sd00045
Location:100 → 131

ANK; ANK repeat [structural motif]

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

55090918..55117637 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527045.3 → XP_011525347.1 protein phosphatase 1 regulatory subunit 12C isoform X2

UniProtKB/TrEMBL

K7EL81

Conserved Domains (6) summary

cd00204
Location:95 → 279

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:105 → 257

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:246 → 300

Ank_5; Ankyrin repeats (many copies)

pfam15265
Location:423 → 623

FAM196; FAM196 family

pfam15898
Location:682 → 780

PRKG1_interact; cGMP-dependent protein kinase interacting domain

sd00045
Location:100 → 131

ANK; ANK repeat [structural motif]
XM_005259013.5 → XP_005259070.1 protein phosphatase 1 regulatory subunit 12C isoform X1

UniProtKB/TrEMBL

K7EL81

Related

ENSP00000387833.2, ENST00000435544.6

Conserved Domains (6) summary

cd00204
Location:95 → 279

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:105 → 257

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:246 → 300

Ank_5; Ankyrin repeats (many copies)

pfam15265
Location:424 → 622

FAM196; FAM196 family

pfam15898
Location:682 → 780

PRKG1_interact; cGMP-dependent protein kinase interacting domain

sd00045
Location:100 → 131

ANK; ANK repeat [structural motif]

RNA

XR_007066879.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

58185408..58211313 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321302.1 → XP_054177277.1 protein phosphatase 1 regulatory subunit 12C isoform X2
XM_054321301.1 → XP_054177276.1 protein phosphatase 1 regulatory subunit 12C isoform X1