PPP1R18 (protein phosphatase 1 regulatory subunit 18)

Gene

• Entrez ID: 170954
• Gene name: Protein phosphatase 1 regulatory subunit 18
• Gene symbol: PPP1R18
• Synonyms (NCBI Gene): HKMT1098, KIAA1949
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT043257	hsa-miR-324-5p	CLASH	23622248

Gene ontology (GO)

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, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0019902	Function	Phosphatase binding	IEA

Other IDs

• MIM: 610990
• HGNC: 29413
• e!Ensembl: ENSG00000146112

Protein

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASDB_DG	19836008		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	31701765	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36611973	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29669786		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36380121	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29669786		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	24871463		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	19654303, 22899653		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	31701765	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29098164		★☆☆☆☆ Found in Text Mining only