P62140

PR
Gene name
PPP1CB
Protein name
Serine/threonine-protein phosphatase PP1-beta catalytic subunit
Names
PP-1B, PPP1CD
Species
Homo sapiens (Human)
KEGG Pathway
hsa:5500
EC number
3.1.3.16: Phosphoric monoester hydrolases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

270-327 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for P62140

Entry ID Method Resolution Chain Position Source
AF-P62140-F1 Predicted AlphaFoldDB

72 variants for P62140

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001257999
RCV002274002
RCV000490622
rs886037952
RCV000257986
RCV001251211
CA10586682
RCV001265940
VAR_076839
 49 P>R Noonan syndrome-like disorder with loose anagen hair 2 Dandy-Walker syndrome Noonan syndrome Inborn genetic diseases NSLH2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs1114167429
CA346581171
VAR_076840
RCV000490624
 56 A>P Noonan syndrome-like disorder with loose anagen hair 2 NSLH2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_079189
RCV000490621
CA10586683
RCV001731461
RCV001266742
rs886037954
 183 E>A Noonan syndrome-like disorder with loose anagen hair 2 Inborn genetic diseases NSLH2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000257978
CA10586684
RCV000490623
VAR_079190
rs886037954
 183 E>V Noonan syndrome-like disorder with loose anagen hair 2 NSLH2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000523298
CA346583250
RCV002470896
rs1553311527
 220 R>C Noonan syndrome-like disorder with loose anagen hair 2 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000257996
VAR_079191
rs886037953
CA10586685
 252 D>Y NSLH2 [UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_079192
rs886037955
RCV000490625
CA10586686
 274 E>K Noonan syndrome-like disorder with loose anagen hair 2 Variant assessed as Somatic; impact. NSLH2; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV001267174
rs1667442382
 276 D>Y Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
rs1305465866
CA346584296
 2 A>V No ClinGen
TOPMed
rs367543173
RCV000084655
CA225573
 4 G>R No ClinGen
ClinVar
Ensembl
dbSNP
TCGA novel 5 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1158082133
CA346584339
 5 E>Q No ClinGen
gnomAD
CA44845359
rs139538860
 10 S>C No ClinGen
ESP
gnomAD
rs141124389
CA44845360
 10 S>I No ClinGen
ESP
gnomAD
rs960710587
CA44845361
 11 L>F No ClinGen
Ensembl
rs1347016886
CA346584422
 12 I>N No ClinGen
gnomAD
rs1223651476
CA346584419
 12 I>V No ClinGen
TOPMed
gnomAD
CA346580628
rs1247252530
 19 R>Q No ClinGen
gnomAD
CA346580648
rs1205316044
 22 R>H No ClinGen
gnomAD
CA346580694
rs1291974875
 26 I>M No ClinGen
TOPMed
RCV001048325
rs1667055747
 27 V>M No ClinVar
dbSNP
CA346580756
rs1230033680
 30 T>P No ClinGen
TOPMed
CA346580759
rs1238656649
 30 T>S No ClinGen
gnomAD
CA1589164
rs760562458
 32 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1589166
rs372864249
 41 S>F No ClinGen
ESP
ExAC
gnomAD
rs1317594310
CA346581001
 44 I>T No ClinGen
TOPMed
gnomAD
TCGA novel 49 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1589167
rs138103928
 50 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1403080346
CA346581204
 59 K>R No ClinGen
TOPMed
CA346581351
rs1553310737
RCV000520931
 66 G>A No ClinGen
ClinVar
Ensembl
dbSNP
rs1128416
CA44869954
 67 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 70 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 70 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 76 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1366060246
CA346581432
 78 G>R No ClinGen
gnomAD
CA44870012
rs951846731
 79 G>S No ClinGen
TOPMed
rs1553310744
CA346581483
RCV000658863
 85 N>K No ClinGen
ClinVar
Ensembl
dbSNP
rs1558305309
CA346581489
RCV000681353
 86 Y>C No ClinGen
ClinVar
Ensembl
dbSNP
CA346581686
rs1294390542
 114 P>A No ClinGen
gnomAD
rs75466421
CA44870108
 124 H>P No ClinGen
Ensembl
TCGA novel 124 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 127 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773877489
CA1589226
 140 K>T No ClinGen
ExAC
gnomAD
rs1457861725
CA346581897
 141 R>G No ClinGen
gnomAD
CA346581964
rs1572460818
 150 T>P No ClinGen
Ensembl
TCGA novel 161 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346582055
rs1241904157
 163 I>V No ClinGen
gnomAD
TCGA novel 165 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1589270
rs768286092
 182 M>V No ClinGen
ExAC
gnomAD
CA346582469
rs1250549046
 189 M>V No ClinGen
TOPMed
gnomAD
TCGA novel 190 R>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 191 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1572466593
CA346583102
 200 L>F No ClinGen
Ensembl
rs867598418
CA44879355
 204 L>I No ClinGen
Ensembl
TCGA novel 206 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346583184
rs1357383751
 211 D>E No ClinGen
TOPMed
gnomAD
rs111555795
CA44879381
 222 V>I No ClinGen
Ensembl
CA346583329
rs1438779667
 232 S>N No ClinGen
TOPMed
gnomAD
CA346583412
rs1238818326
 243 I>T No ClinGen
gnomAD
TCGA novel 281 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 285 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1430962228
CA346583978
 290 C>S No ClinGen
gnomAD
CA531653821
rs1201558282
 291 S>* No ClinGen
gnomAD
rs1343054862
CA346584106
 302 A>V No ClinGen
TOPMed
TCGA novel 305 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA44890299
rs199975807
 307 G>S No ClinGen
TOPMed
gnomAD
CA1589346
rs781756970
 312 G>E No ClinGen
ExAC
gnomAD
rs1378749083
CA346584176
 313 R>C No ClinGen
gnomAD
CA1589347
rs748608614
 315 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs202171795
CA1589349
 323 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1265471325
CA346584277
 324 P>L No ClinGen
gnomAD
CA44890349
rs267599330
 327 R>K No ClinGen
Ensembl

1 associated diseases with P62140

[MIM: 617506]: Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2)

A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. {ECO:0000269|PubMed:27264673, ECO:0000269|PubMed:27681385, ECO:0000269|PubMed:27868344, ECO:0000269|PubMed:28211982, ECO:0000269|PubMed:30368668}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. {ECO:0000269|PubMed:27264673, ECO:0000269|PubMed:27681385, ECO:0000269|PubMed:27868344, ECO:0000269|PubMed:28211982, ECO:0000269|PubMed:30368668}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P62140

Type Name Position InterPro Accession
domain Calcineurin-like phosphoesterase domain, ApaH type 59 - 249 IPR004843
domain Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase 29 - 299 IPR006186
domain Serine-threonine protein phosphatase, N-terminal 8 - 55 IPR031675

Functions

Description
EC Number 3.1.3.16 Phosphoric monoester hydrolases
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Nucleus, nucleoplasm
  • Nucleus, nucleolus
  • Highly mobile in cells and can be relocalized through interaction with targeting subunits
  • In the presence of PPP1R8 relocalizes from the nucleus to nuclear speckles
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
PTW/PP1 phosphatase complex A protein serine/threonine phosphatase complex that contains a catalytic subunit (PPP1CA, PPP1CB or PPP1CC) and the regulatory subunits PPP1R10 (PNUTS), TOX4 and WDR82, and plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase.

6 GO annotations of molecular function

Name Definition
metal ion binding Binding to a metal ion.
myosin phosphatase activity Catalysis of the reaction: phosphomyosin + H2O = myosin + phosphate.
myosin-light-chain-phosphatase activity Catalysis of the reaction: myosin light-chain phosphate + H2O = myosin light chain + phosphate.
phosphatase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein serine/threonine phosphatase activity Catalysis of the reaction: protein serine phosphate + H2O = protein serine + phosphate, and protein threonine phosphate + H2O = protein threonine + phosphate.

9 GO annotations of biological process

Name Definition
cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
circadian regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours.
entrainment of circadian clock by photoperiod The synchronization of a circadian rhythm to photoperiod, the intermittent cycle of light (day) and dark (night).
glycogen metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages.
MAPK cascade An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
protein dephosphorylation The process of removing one or more phosphoric residues from a protein.
regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.
regulation of circadian rhythm Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P62136 PPP1CA Serine/threonine-protein phosphatase PP1-alpha catalytic subunit Homo sapiens (Human) PR
P62137 Ppp1ca Serine/threonine-protein phosphatase PP1-alpha catalytic subunit Mus musculus (Mouse) PR
P62141 Ppp1cb Serine/threonine-protein phosphatase PP1-beta catalytic subunit Mus musculus (Mouse) PR
P62142 Ppp1cb Serine/threonine-protein phosphatase PP1-beta catalytic subunit Rattus norvegicus (Rat) PR
P48459 C23G10.1 Serine/threonine-protein phosphatase C23G10.1 Caenorhabditis elegans PR
P34430 F44B9.9 Uncharacterized protein F44B9.9 Caenorhabditis elegans PR
O82733 TOPP7 Serine/threonine-protein phosphatase PP1 isozyme 7 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MADGELNVDS LITRLLEVRG CRPGKIVQMT EAEVRGLCIK SREIFLSQPI LLELEAPLKI
70 80 90 100 110 120
CGDIHGQYTD LLRLFEYGGF PPEANYLFLG DYVDRGKQSL ETICLLLAYK IKYPENFFLL
130 140 150 160 170 180
RGNHECASIN RIYGFYDECK RRFNIKLWKT FTDCFNCLPI AAIVDEKIFC CHGGLSPDLQ
190 200 210 220 230 240
SMEQIRRIMR PTDVPDTGLL CDLLWSDPDK DVQGWGENDR GVSFTFGADV VSKFLNRHDL
250 260 270 280 290 300
DLICRAHQVV EDGYEFFAKR QLVTLFSAPN YCGEFDNAGG MMSVDETLMC SFQILKPSEK
310 320
KAKYQYGGLN SGRPVTPPRT ANPPKKR