PNCK (pregnancy up-regulated nonubiquitous CaM kinase)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 139728 |
| Gene name | Pregnancy up-regulated nonubiquitous CaM kinase |
| Gene symbol | PNCK |
| Synonyms (NCBI Gene) |
BSTK3CaMK1b
|
| 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
miRNA information provided by mirtarbase database.
24
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
|||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
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
|
||||||||||
| Sequence |
|
||||||||||
| Sequence length | 343 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
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)
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
Related Genes
Genes most often co-reported with PNCK across shared curated disease and pathway associations.
0
|
|
|
Diseases Linked via Similar Genes
Diseases curated for genes most similar to PNCK (see Related Genes above), that are NOT already directly curated for PNCK itself -- a lead worth checking, not a confirmed association.
0
|
|