PPP1R18 (protein phosphatase 1 regulatory subunit 18)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
170954
Gene name Gene Name - the full gene name approved by the HGNC.
Protein phosphatase 1 regulatory subunit 18
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPP1R18
Synonyms (NCBI Gene) Gene synonyms aliases
HKMT1098, KIAA1949
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see M
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT043257 hsa-miR-324-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 21516116, 22321011, 25416956, 25593058, 28330616, 28514442, 31515488, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0019902 Function Phosphatase binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610990 29413 ENSG00000146112
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6NYC8
Protein name Phostensin (Protein phosphatase 1 F-actin cytoskeleton-targeting subunit) (Protein phosphatase 1 regulatory subunit 18)
Protein function [Isoform 1]: May target protein phosphatase 1 to F-actin cytoskeleton. ; [Isoform 4]: May target protein phosphatase 1 to F-actin cytoskeleton.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13916 Phostensin_N 28 → 116 PP1-regulatory protein, Phostensin N-terminal Domain
PF13914 Phostensin 438 → 560 Phostensin PP1-binding and SH3-binding region Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 4 is predominantly expressed in leukocytes and spleen. {ECO:0000269|PubMed:17374523}.
Sequence 
MATIPDWKLQLLARRRQEEASVRGREKAERERLSQMPAWKRGLLERRRAKLGLSPGEPSP
VLGTVEAGPPDPDESAVLLEAIGPVHQNRFIRQERQQQQQQQQRSEELLAERKPGPLEAR
ERRPSPGEMRDQSPKGRESREERLSPRETRERRLGIGGAQELSLRPLEARDWRQSPGEVG
DRSSRLSEAWKWRLSPGETPERSLRLAESREQSPRRKEVESRLSPGESAYQKLGLTEAHK
WRPDSRESQEQSLVQLEATEWRLRSGEERQDYSEECGRKEEWPVPGVAPKETAELSETLT
REAQGNSSAGVEAAEQRPVEDGERGMKPTEGWKWTLNSGKAREWTPRDIEAQTQKPEPPE
SAEKLLESPGVEAGEGEAEKEEAGAQGRPLRALQNCCSVPSPLPPEDAGTGGLRQQEEEA
VELQPPPPAPLSPPPPAPTAPQPPGDPLMSRLFYGVKAGPGVGAPRRSGHTFTVNPRRSV
PPATPATPTSPATVDAAVPGAGKKRYPTAEEILVLGGYLRLSRSCLAKGSPERHHKQLKI
SFSETALETTYQYPSESSVLEELGPEPEVPSAPNPPAAQPDDEEDEEELLLLQPELQGGL
RTKALIVDESCRR
Sequence length 613
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)		 17632545
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)		 19836008
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 19654303, 22899653
Lung carcinoma Carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355
View all (44 more)		 28604730
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Insomnia Insomnia GWAS
Show/Hide Text Mining Associations (6)
Associations from Text Mining
Disease Name Relationship Type References
Arthritis Psoriatic Associate 31701765
Carcinoma Renal Cell Associate 36611973
Diabetes Mellitus Type 2 Associate 36380121
Fibrosis Associate 27152124
Neoplasm Metastasis Associate 36611973
Psoriasis Associate 31701765