PNCK (pregnancy up-regulated nonubiquitous CaM kinase)

Gene

• Entrez ID: 139728
• Gene name: Pregnancy up-regulated nonubiquitous CaM kinase
• Gene symbol: PNCK
• Synonyms (NCBI Gene): BSTK3, CaMK1b
• Chromosome: X
• Chromosome location: Xq28
• Summary: PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM, Mar 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1244696	hsa-miR-1915	CLIP-seq
MIRT1244697	hsa-miR-2467-3p	CLIP-seq
MIRT1244698	hsa-miR-3194-5p	CLIP-seq
MIRT1244699	hsa-miR-338-3p	CLIP-seq
MIRT1244700	hsa-miR-4323	CLIP-seq
MIRT1244701	hsa-miR-4530	CLIP-seq
MIRT1244702	hsa-miR-4716-3p	CLIP-seq
MIRT1244703	hsa-miR-922	CLIP-seq
MIRT1244704	hsa-miR-1286	CLIP-seq
MIRT1244705	hsa-miR-425	CLIP-seq
MIRT1244706	hsa-miR-4493	CLIP-seq
MIRT1244707	hsa-miR-4731-3p	CLIP-seq
MIRT1244708	hsa-miR-4753-5p	CLIP-seq
MIRT1244709	hsa-miR-4801	CLIP-seq
MIRT1244710	hsa-miR-591	CLIP-seq
MIRT1244711	hsa-miR-642b	CLIP-seq
MIRT2392738	hsa-miR-125a-5p	CLIP-seq
MIRT2392739	hsa-miR-125b	CLIP-seq
MIRT1244704	hsa-miR-1286	CLIP-seq
MIRT2392740	hsa-miR-1973	CLIP-seq
MIRT2392741	hsa-miR-4319	CLIP-seq
MIRT2392742	hsa-miR-4649-3p	CLIP-seq
MIRT2392743	hsa-miR-4722-5p	CLIP-seq
MIRT2392744	hsa-miR-544b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	IBA
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	IEA
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 300680
• HGNC: 13415
• e!Ensembl: ENSG00000130822

Protein

• UniProt ID: Q6P2M8
• Protein name: Calcium/calmodulin-dependent protein kinase type 1B (EC 2.7.11.17) (CaM kinase I beta) (CaM kinase IB) (CaM-KI beta) (CaMKI-beta) (Pregnancy up-regulated non-ubiquitously-expressed CaM kinase)
• Protein function: Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates CREB1 and SYN1/synapsin I. Phosphorylates and activates CAMK1 (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	15 → 270	Protein kinase domain	Domain

• Sequence:

  MLLLKKHTEDISSVYEIRERLGSGAFSEVVLAQERGSAHLVALKCIPKKALRGKEALVEN
  EIAVLRRISHPNIVALEDVHESPSHLYLAMELVTGGELFDRIMERGSYTEKDASHLVGQV
  LGAVSYLHSLGIVHRDLKPENLLYATPFEDSKIMVSDFGLSKIQAGNMLGTACGTPGYVA
  PELLEQKPYGKAVDVWALGVISYILLCGYPPFYDESDPELFSQILRASYEFDSPFWDDIS
  ESAKDFIRHLLERDPQKRFTCQQALRHLWISGDTAFDRDILGSVSEQIRKNFARTHWKRA
  FNATSFLRHIRKLGQIPEGEGASEQGMARHSHSGLRAGQPPKW

• Sequence length: 343

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
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★☆☆☆ 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
Breast Neoplasms	Breast neoplasm	Pubtator	18562482, 24552815, 33099476	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33099476	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33099476, 35865652	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21253009, 23634203	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33099476	Stimulate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	31515286	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21253009		★☆☆☆☆ Found in Text Mining only
Creatine deficiency, X-linked	Creatine deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37451613	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11034105		★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	31515286	Associate	★☆☆☆☆ Found in Text Mining only