Gene Gene information from NCBI Gene database.
Entrez ID 1452
Gene name Casein kinase 1 alpha 1
Gene symbol CSNK1A1
Synonyms (NCBI Gene)
CK1CK1aCKIaHEL-S-77pHLCDGP1PRO2975
Chromosome 5
Chromosome location 5q32
miRNA miRNA information provided by mirtarbase database.
898
miRTarBase ID miRNA Experiments Reference
MIRT006267 hsa-miR-155-5p Luciferase reporter assay 22350414
MIRT006267 hsa-miR-155-5p Luciferase reporter assay 22350414
MIRT006267 hsa-miR-155-5p Luciferase reporter assay 22350414
MIRT006267 hsa-miR-155-5p Luciferase reporter assay 22350414
MIRT006267 hsa-miR-155-5p Luciferase reporter assay 22350414
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SOX17 Repression 24407731
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
70
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IDA 28890335
GO:0000166 Function Nucleotide binding IEA
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IEA
GO:0004672 Function Protein kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600505 2451 ENSG00000113712
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48729
Protein name Casein kinase I isoform alpha (CKI-alpha) (EC 2.7.11.1) (CK1)
Protein function Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates (PubMed:11955436, PubMed:1409656, PubMed:18305108, PubMed:23902688). It can phosphorylate a large number of proteins (Pub
PDB 5FQD , 6GZD , 7WTT , 8G66
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 17 260 Protein kinase domain Domain
Sequence
Sequence length 337
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Wnt signaling pathway
Hedgehog signaling pathway
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  Degradation of beta-catenin by the destruction complex
Beta-catenin phosphorylation cascade
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Misspliced GSK3beta mutants stabilize beta-catenin
S33 mutants of beta-catenin aren't phosphorylated
S37 mutants of beta-catenin aren't phosphorylated
S45 mutants of beta-catenin aren't phosphorylated
T41 mutants of beta-catenin aren't phosphorylated
APC truncation mutants have impaired AXIN binding
AXIN missense mutants destabilize the destruction complex
Truncations of AMER1 destabilize the destruction complex
GLI3 is processed to GLI3R by the proteasome
Activation of SMO
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY ATRESIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CIC-rearranged sarcoma not provided ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 30651631
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 30146162
★☆☆☆☆
Found in Text Mining only
Adrenal cortical hypofunction Adrenal Cortical Hypofunction BEFREE 29846607
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 30487124
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia CTD_human_DG 26437031
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 30578738
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 32029502 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31462314 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35985475, 37149115 Associate
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 30487124
★☆☆☆☆
Found in Text Mining only