CSNK1A1L
gene geneOn this page
Also known as MGC33182
Summary
CSNK1A1L (casein kinase 1 alpha 1 like, HGNC:20289) is a protein-coding gene on chromosome 13q13.3, encoding Casein kinase I isoform alpha-like (Q8N752). Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates.
Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in negative regulation of canonical Wnt signaling pathway and signal transduction. Predicted to be active in cytoplasm and nucleus.
Source: NCBI Gene 122011 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 56 total — 1 pathogenic
- Druggable target: yes — 7 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_145203
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20289 |
| Approved symbol | CSNK1A1L |
| Name | casein kinase 1 alpha 1 like |
| Location | 13q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC33182 |
| Ensembl gene | ENSG00000180138 |
| Ensembl biotype | protein_coding |
| Entrez | 122011 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000379800
RefSeq mRNA: 1 — MANE Select: NM_145203
NM_145203
CCDS: CCDS9363
Canonical transcript exons
ENST00000379800 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001482541 | 37103259 | 37105664 |
Expression profiles
Bgee: expression breadth broad, 17 present calls, max score 81.47.
Top tissues by expression
110 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.47 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 74.13 | gold quality |
| blood | UBERON:0000178 | 66.11 | gold quality |
| right testis | UBERON:0004534 | 59.50 | gold quality |
| testis | UBERON:0000473 | 58.03 | gold quality |
| bone marrow cell | CL:0002092 | 57.50 | silver quality |
| left testis | UBERON:0004533 | 57.25 | gold quality |
| bone marrow | UBERON:0002371 | 55.43 | gold quality |
| cortical plate | UBERON:0005343 | 53.04 | gold quality |
| ventricular zone | UBERON:0003053 | 47.92 | silver quality |
| granulocyte | CL:0000094 | 44.41 | silver quality |
| sural nerve | UBERON:0015488 | 42.44 | gold quality |
| spleen | UBERON:0002106 | 42.01 | silver quality |
| colonic epithelium | UBERON:0000397 | 41.30 | gold quality |
| vermiform appendix | UBERON:0001154 | 40.07 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 39.17 | gold quality |
| stromal cell of endometrium | CL:0002255 | 38.94 | gold quality |
| right lung | UBERON:0002167 | 38.80 | silver quality |
| gall bladder | UBERON:0002110 | 38.63 | gold quality |
| apex of heart | UBERON:0002098 | 37.58 | silver quality |
| muscle tissue | UBERON:0002385 | 36.42 | gold quality |
| liver | UBERON:0002107 | 36.31 | gold quality |
| urinary bladder | UBERON:0001255 | 35.93 | gold quality |
| monocyte | CL:0000576 | 35.65 | gold quality |
| placenta | UBERON:0001987 | 34.32 | gold quality |
| lung | UBERON:0002048 | 33.86 | silver quality |
| upper lobe of left lung | UBERON:0008952 | 33.61 | silver quality |
| fundus of stomach | UBERON:0001160 | 33.32 | gold quality |
| corpus callosum | UBERON:0002336 | 32.93 | gold quality |
| endometrium | UBERON:0001295 | 32.91 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.17 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
63 targeting CSNK1A1L, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-652-5P | 99.91 | 67.49 | 505 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-609 | 99.82 | 64.26 | 505 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-6516-3P | 99.65 | 68.57 | 1238 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-3685 | 99.62 | 68.83 | 1621 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-4708-3P | 99.51 | 67.99 | 870 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
Literature-anchored findings (GeneRIF, showing 1)
- Casein kinase 1 controls the shuttling of epidermal growth factor receptor and estrogen receptor in endometrial carcinoma induced by breast cancer hormonal therapy: Relevance of GPER1/Src. (PMID:37257767)
Cross-species orthologs
69 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ttbk2a | ENSDARG00000005670 |
| danio_rerio | ttbk2b | ENSDARG00000043026 |
| danio_rerio | ttbk1a | ENSDARG00000056019 |
| danio_rerio | ttbk1b | ENSDARG00000056659 |
| drosophila_melanogaster | ball | FBGN0027889 |
| drosophila_melanogaster | CG9962 | FBGN0031441 |
| caenorhabditis_elegans | WBGENE00007049 | |
| caenorhabditis_elegans | WBGENE00007269 | |
| caenorhabditis_elegans | WBGENE00007305 | |
| caenorhabditis_elegans | WBGENE00007335 | |
| caenorhabditis_elegans | WBGENE00007448 | |
| caenorhabditis_elegans | WBGENE00007777 | |
| caenorhabditis_elegans | WBGENE00007791 | |
| caenorhabditis_elegans | WBGENE00008088 | |
| caenorhabditis_elegans | WBGENE00008423 | |
| caenorhabditis_elegans | WBGENE00008464 | |
| caenorhabditis_elegans | F10G8.2 | WBGENE00008662 |
| caenorhabditis_elegans | WBGENE00008883 | |
| caenorhabditis_elegans | WBGENE00009324 | |
| caenorhabditis_elegans | WBGENE00009402 | |
| caenorhabditis_elegans | WBGENE00010555 | |
| caenorhabditis_elegans | WBGENE00010692 | |
| caenorhabditis_elegans | WBGENE00010874 | |
| caenorhabditis_elegans | WBGENE00011283 | |
| caenorhabditis_elegans | WBGENE00012169 | |
| caenorhabditis_elegans | WBGENE00012637 | |
| caenorhabditis_elegans | WBGENE00012731 | |
| caenorhabditis_elegans | WBGENE00013868 | |
| caenorhabditis_elegans | WBGENE00014007 | |
| caenorhabditis_elegans | WBGENE00015893 | |
| caenorhabditis_elegans | WBGENE00016111 | |
| caenorhabditis_elegans | C34B2.3 | WBGENE00016388 |
| caenorhabditis_elegans | WBGENE00016513 | |
| caenorhabditis_elegans | WBGENE00016541 | |
| caenorhabditis_elegans | WBGENE00016673 | |
| caenorhabditis_elegans | WBGENE00016765 | |
| caenorhabditis_elegans | C55B7.10 | WBGENE00016946 |
| caenorhabditis_elegans | WBGENE00016963 | |
| caenorhabditis_elegans | WBGENE00017050 | |
| caenorhabditis_elegans | WBGENE00017714 | |
| caenorhabditis_elegans | WBGENE00017725 | |
| caenorhabditis_elegans | WBGENE00017803 | |
| caenorhabditis_elegans | WBGENE00017895 | |
| caenorhabditis_elegans | F33D11.7 | WBGENE00018004 |
| caenorhabditis_elegans | WBGENE00018122 | |
| caenorhabditis_elegans | WBGENE00018123 | |
| caenorhabditis_elegans | WBGENE00018202 | |
| caenorhabditis_elegans | WBGENE00018203 | |
| caenorhabditis_elegans | WBGENE00018745 | |
| caenorhabditis_elegans | WBGENE00018839 | |
| caenorhabditis_elegans | WBGENE00019086 | |
| caenorhabditis_elegans | WBGENE00019119 | |
| caenorhabditis_elegans | WBGENE00019459 | |
| caenorhabditis_elegans | WBGENE00019556 | |
| caenorhabditis_elegans | WBGENE00019561 | |
| caenorhabditis_elegans | WBGENE00019562 | |
| caenorhabditis_elegans | WBGENE00019642 | |
| caenorhabditis_elegans | kin-35 | WBGENE00019769 |
| caenorhabditis_elegans | WBGENE00020071 | |
| caenorhabditis_elegans | WBGENE00020072 | |
| caenorhabditis_elegans | WBGENE00020223 | |
| caenorhabditis_elegans | WBGENE00020580 | |
| caenorhabditis_elegans | W09C3.1 | WBGENE00021109 |
| caenorhabditis_elegans | Y47G6A.13 | WBGENE00021639 |
| caenorhabditis_elegans | Y65B4A.9 | WBGENE00022032 |
| caenorhabditis_elegans | WBGENE00022102 | |
| caenorhabditis_elegans | Y71F9AL.2 | WBGENE00022108 |
| caenorhabditis_elegans | WBGENE00022705 | |
| caenorhabditis_elegans | WBGENE00022707 |
Paralogs (12): VRK2 (ENSG00000028116), CDC7 (ENSG00000097046), VRK1 (ENSG00000100749), VRK3 (ENSG00000105053), CSNK1A1 (ENSG00000113712), TTBK2 (ENSG00000128881), CSNK1G2 (ENSG00000133275), CSNK1D (ENSG00000141551), TTBK1 (ENSG00000146216), CSNK1G3 (ENSG00000151292), CSNK1G1 (ENSG00000169118), CSNK1E (ENSG00000213923)
Protein
Protein identifiers
Casein kinase I isoform alpha-like — Q8N752 (reviewed: Q8N752)
Alternative names: CK1
All UniProt accessions (1): Q8N752
UniProt curated annotations — full annotation on UniProt →
Function. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling.
Subunit / interactions. Interacts with FAM83A, FAM83B, FAM83C, FAM83D, FAM83E, FAM83F, FAM83G and FAM83H (via DUF1669).
Subcellular location. Cytoplasm.
Similarity. Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Casein kinase I subfamily.
RefSeq proteins (1): NP_660204* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000719 | Prot_kinase_dom | Domain |
| IPR008271 | Ser/Thr_kinase_AS | Active_site |
| IPR011009 | Kinase-like_dom_sf | Homologous_superfamily |
| IPR017441 | Protein_kinase_ATP_BS | Binding_site |
| IPR050235 | CK1_Ser-Thr_kinase-like | Family |
Pfam: PF00069
Catalyzed reactions (Rhea), 2 shown:
- L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
- L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)
UniProt features (19 total): sequence variant 9, compositionally biased region 2, binding site 2, chain 1, domain 1, sequence conflict 1, region of interest 1, active site 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N752-F1 | 92.06 | 0.88 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 136 (proton acceptor)
Ligand- & substrate-binding residues (2): 23–31; 46
Post-translational modifications (1): 8
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 61 (showing top):
KEGG_HEDGEHOG_SIGNALING_PATHWAY, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, chr13q13, CATTTCA_MIR203, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, AACTTT_UNKNOWN, HNF1_01, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY, HOXA4_Q2, YNGTTNNNATT_UNKNOWN, CP2_01, GCCATNTTG_YY1_Q6, ATGTACA_MIR493, WGTTNNNNNAAA_UNKNOWN
GO Biological Process (4): signal transduction (GO:0007165), Wnt signaling pathway (GO:0016055), negative regulation of canonical Wnt signaling pathway (GO:0090090), protein phosphorylation (GO:0006468)
GO Molecular Function (7): protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein kinase activity | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| cell surface receptor signaling pathway | 1 |
| negative regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| phosphorylation | 1 |
| protein modification process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| kinase activity | 1 |
| phosphotransferase activity, alcohol group as acceptor | 1 |
| catalytic activity, acting on a protein | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
550 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CSNK1A1L | AXIN2 | Q9Y2T1 | 476 |
| CSNK1A1L | CSNK1A1 | P48729 | 423 |
| CSNK1A1L | ALPK3 | Q96L96 | 380 |
| CSNK1A1L | NPIPB9 | F8W1W9 | 377 |
| CSNK1A1L | GSK3B | P49841 | 375 |
| CSNK1A1L | PSKH2 | Q96QS6 | 371 |
| CSNK1A1L | PROSER1 | Q86XN7 | 365 |
| CSNK1A1L | UEVLD | Q8IX04 | 353 |
| CSNK1A1L | CCDC169 | A6NNP5 | 348 |
| CSNK1A1L | MTRNR2L10 | P0CJ77 | 348 |
| CSNK1A1L | AXIN1 | O15169 | 341 |
| CSNK1A1L | FAM25A | B3EWG3 | 325 |
| CSNK1A1L | WNT8A | Q9H1J5 | 302 |
| CSNK1A1L | NHLRC3 | Q5JS37 | 301 |
| CSNK1A1L | PSKH1 | P11801 | 289 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FAM83H | CSNK1A1 | psi-mi:“MI:0914”(association) | 0.920 |
| FAM83G | CSNK1A1 | psi-mi:“MI:0914”(association) | 0.900 |
| CSNK1A1 | FAM83G | psi-mi:“MI:0914”(association) | 0.900 |
| FAM83B | CSNK1A1 | psi-mi:“MI:0914”(association) | 0.800 |
| NCKIPSD | GEMIN2 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM83C | CSNK1A1 | psi-mi:“MI:0914”(association) | 0.610 |
| FAM83D | HMMR | psi-mi:“MI:0914”(association) | 0.560 |
| FAM83E | CSNK1A1 | psi-mi:“MI:0914”(association) | 0.540 |
| FAM83F | CSNK1A1 | psi-mi:“MI:0914”(association) | 0.540 |
| VCAM1 | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM83A | CSNK1A1 | psi-mi:“MI:0914”(association) | 0.430 |
| Cbx1 | FLOT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEBPE | CSNK1A1L | psi-mi:“MI:0915”(physical association) | 0.370 |
| JAM2 | CSNK1A1L | psi-mi:“MI:0915”(physical association) | 0.370 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| EGFR | psi-mi:“MI:0914”(association) | 0.350 | |
| SGK1 | psi-mi:“MI:0914”(association) | 0.350 | |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| ARRB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| FAM170A | NDC80 | psi-mi:“MI:0914”(association) | 0.350 |
| PXN | PIK3C2A | psi-mi:“MI:0914”(association) | 0.350 |
| PRKD1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CSNK1A1L | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (71): CSNK1A1L (Reconstituted Complex), TNFRSF1B (Biochemical Activity), CSNK1A1L (Biochemical Activity), TNFRSF1A (Biochemical Activity), CSNK1A1L (Affinity Capture-MS), CSNK1A1L (Affinity Capture-MS), CSNK1A1L (Affinity Capture-MS), CSNK1A1L (Affinity Capture-MS), CSNK1A1L (Affinity Capture-MS), CSNK1A1L (Affinity Capture-MS), CSNK1A1L (Affinity Capture-MS), CSNK1A1L (Affinity Capture-MS), CSNK1A1L (Affinity Capture-MS), CSNK1A1L (Affinity Capture-MS), CSNK1A1L (Affinity Capture-MS)
ESM2 similar proteins: B9VVJ6, O15726, O76324, P35507, P35508, P40235, P40236, P42168, P48729, P48730, P49674, P54367, P67827, P67828, P67829, P67962, P67963, P78368, P97633, Q06486, Q39050, Q4R9A9, Q5BP74, Q5PRD4, Q5R4V3, Q5RC72, Q5ZLL1, Q62761, Q62762, Q62763, Q6P3K7, Q6P647, Q6QNL9, Q6QNM1, Q7RBX5, Q7T2E3, Q8BK63, Q8BVP5, Q8C4X2, Q8IHZ9
Diamond homologs: A7E3X2, B9VVJ6, O15726, O19175, O74135, O76324, O80888, P16912, P22517, P23291, P23292, P28327, P29295, P34516, P34633, P35507, P35508, P35509, P39962, P40230, P40233, P40234, P40235, P40236, P42158, P42168, P48729, P48730, P49615, P49674, P51166, P54367, P67827, P67828, P67829, P67962, P67963, P78368, P81123, P97633
SIGNOR signaling
17 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CSNK1A1L | up-regulates | GLI2 | phosphorylation |
| CSNK1A1L | up-regulates | GLI3 | phosphorylation |
| PRKACA | up-regulates | CSNK1A1L | phosphorylation |
| CSNK1A1L | up-regulates | GLIS2 | |
| CSNK1A1L | up-regulates | LRP6 | phosphorylation |
| FAM83G | “up-regulates quantity” | CSNK1A1L | binding |
| FAM83B | “up-regulates quantity” | CSNK1A1L | binding |
| FAM83H | “up-regulates quantity” | CSNK1A1L | binding |
| FAM83A | “up-regulates quantity” | CSNK1A1L | binding |
| FAM83D | “up-regulates quantity” | CSNK1A1L | binding |
| FAM83E | “up-regulates quantity” | CSNK1A1L | binding |
| FAM83F | “up-regulates quantity” | CSNK1A1L | binding |
| FAM83C | “up-regulates quantity” | CSNK1A1L | binding |
| CSNK1A1L | “up-regulates activity” | NFAT5 | phosphorylation |
| CSNK1A1L | down-regulates | CTNNB1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1527765 | GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1 | Pathogenic |
SpliceAI
79 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:37105484:C:CT | donor_gain | 0.7900 |
| 13:37105485:C:CT | donor_gain | 0.7800 |
| 13:37105368:C:CT | donor_gain | 0.6800 |
| 13:37105369:C:CT | donor_gain | 0.6500 |
| 13:37105483:A:AC | donor_gain | 0.5900 |
| 13:37104782:C:CT | acceptor_gain | 0.4500 |
| 13:37105388:G:GC | donor_gain | 0.4500 |
| 13:37105414:C:A | donor_gain | 0.4200 |
| 13:37105381:T:TA | donor_gain | 0.4100 |
| 13:37105382:C:A | donor_gain | 0.4100 |
| 13:37105406:AG:A | donor_gain | 0.3900 |
| 13:37105423:A:T | donor_gain | 0.3900 |
| 13:37105489:T:TA | donor_gain | 0.3900 |
| 13:37105100:TG:T | donor_gain | 0.3700 |
| 13:37105537:C:CC | acceptor_gain | 0.3300 |
| 13:37104484:A:C | donor_gain | 0.3200 |
| 13:37104502:AACCC:A | donor_gain | 0.3200 |
| 13:37105367:G:C | donor_gain | 0.3200 |
| 13:37105412:ATC:A | donor_gain | 0.3200 |
| 13:37105592:CGG:C | donor_gain | 0.3200 |
| 13:37104513:TAAA:T | donor_gain | 0.3100 |
| 13:37104514:AAAA:A | donor_gain | 0.3100 |
| 13:37105585:C:CT | donor_gain | 0.3100 |
| 13:37105586:T:TT | donor_gain | 0.3100 |
| 13:37105384:CGGTG:C | donor_gain | 0.3000 |
| 13:37105392:CAGGG:C | donor_gain | 0.3000 |
| 13:37105486:A:AA | donor_gain | 0.3000 |
| 13:37104448:T:TA | donor_gain | 0.2900 |
| 13:37104838:T:C | donor_gain | 0.2900 |
| 13:37105582:CCG:C | donor_gain | 0.2900 |
AlphaMissense
2257 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:37104365:A:G | W298R | 0.998 |
| 13:37104365:A:T | W298R | 0.998 |
| 13:37104596:A:G | W221R | 0.998 |
| 13:37104596:A:T | W221R | 0.998 |
| 13:37104690:G:C | S189R | 0.998 |
| 13:37104690:G:T | S189R | 0.998 |
| 13:37104692:T:G | S189R | 0.998 |
| 13:37104363:C:A | W298C | 0.996 |
| 13:37104363:C:G | W298C | 0.996 |
| 13:37104853:C:G | R135P | 0.996 |
| 13:37105119:C:A | K46N | 0.996 |
| 13:37105119:C:G | K46N | 0.996 |
| 13:37104453:A:C | F268L | 0.995 |
| 13:37104453:A:T | F268L | 0.995 |
| 13:37104455:A:G | F268L | 0.995 |
| 13:37104660:G:C | S199R | 0.995 |
| 13:37104660:G:T | S199R | 0.995 |
| 13:37104662:T:G | S199R | 0.995 |
| 13:37104369:A:C | F296L | 0.994 |
| 13:37104369:A:T | F296L | 0.994 |
| 13:37104371:A:G | F296L | 0.994 |
| 13:37104650:C:G | D203H | 0.994 |
| 13:37104991:A:T | V89D | 0.994 |
| 13:37105126:G:T | A44E | 0.994 |
| 13:37105173:A:C | F28L | 0.994 |
| 13:37105173:A:T | F28L | 0.994 |
| 13:37105175:A:G | F28L | 0.994 |
| 13:37104594:C:A | W221C | 0.993 |
| 13:37104594:C:G | W221C | 0.993 |
| 13:37104787:T:A | D157V | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000227474 (13:37105554 G>A), RS1000326070 (13:37102964 A>G), RS1000378569 (13:37102807 A>C), RS1001649216 (13:37105064 T>C), RS1001680246 (13:37105326 C>A,G,T), RS1001992740 (13:37106102 A>G), RS1002023869 (13:37106526 A>C,G), RS1003380964 (13:37106657 G>A,T), RS1003737819 (13:37107055 A>G), RS1005342465 (13:37106321 C>A), RS1007189241 (13:37103308 C>G,T), RS1007537938 (13:37103657 T>C), RS1008599522 (13:37104829 A>G), RS1008891491 (13:37105689 A>C,T), RS1010136781 (13:37104528 G>A,C)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001841_12 | Palmitoleic acid (16:1n-7) levels | 3.000000e-06 |
| GCST002337_99 | Amyotrophic lateral sclerosis (sporadic) | 4.000000e-07 |
| GCST004289_2 | Adiponectin levels in pregnancy | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004502 | adiponectin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5520 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
7 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 127,263 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL288441 | BOSUTINIB | 4 | 12,255 |
| CHEMBL535 | SUNITINIB | 4 | 79,020 |
| CHEMBL428690 | ALVOCIDIB | 3 | 27,781 |
| CHEMBL603469 | LESTAURTINIB | 3 | |
| CHEMBL1721885 | SU-014813 | 2 | 363 |
| CHEMBL230011 | TG100-115 | 2 | 1,504 |
| CHEMBL607707 | PELITINIB | 2 | 6,340 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Casein kinase 1 (CK1) family
Binding affinities (BindingDB)
4 measured of 4 human assays (4 total across all organisms); most potent 4 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| Staurosporine | KD | 1.7 nM |
| 5-[(Z)-(5-fluoranyl-2-oxidanylidene-1H-indol-3-ylidene)methyl]-2,4-dimethyl-N-[(2S)-3-morpholin-4-yl-2-oxidanyl-propyl]-1H-pyrrole-3-carboxamide | KD | 2600 nM |
| (E)-N-[4-(3-chloro-4-fluoro-anilino)-3-cyano-7-ethoxy-6-quinolyl]-4-(dimethylamino)but-2-enamide | KD | 3500 nM |
| N-[2-(diethylamino)ethyl]-5-[(Z)-(5-fluoro-2-oxo-1,2-dihydro-3H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide | KD | 3500 nM |
ChEMBL bioactivities
27 potent at pChembl≥5 of 27 total, top 22 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.60 | Kd | 250 | nM | STAUROSPORINE |
| 6.28 | IC50 | 520 | nM | CHEMBL5303449 |
| 6.26 | Kd | 550 | nM | SUNITINIB |
| 6.00 | IC50 | 1000 | nM | TP-030-1 |
| 6.00 | IC50 | 1000 | nM | TP-030-2 |
| 6.00 | IC50 | 1000 | nM | TP-030n |
| 6.00 | Kd | 1000 | nM | PELITINIB |
| 5.90 | IC50 | 1270 | nM | STAUROSPORINE |
| 5.82 | Kd | 1500 | nM | SU-014813 |
| 5.77 | Kd | 1700 | nM | CHEMBL280317 |
| 5.77 | IC50 | 1690 | nM | STAUROSPORINE |
| 5.77 | Kd | 1700 | nM | SB-203580 |
| 5.72 | Kd | 1900 | nM | SB-202190 |
| 5.72 | Kd | 1900 | nM | TG100-115 |
| 5.70 | Kd | 2000 | nM | CHEMBL1241674 |
| 5.62 | IC50 | 2410 | nM | STAUROSPORINE |
| 5.62 | Kd | 2400 | nM | ALVOCIDIB |
| 5.58 | Kd | 2600 | nM | BOSUTINIB |
| 5.34 | Kd | 4600 | nM | CHEMBL379218 |
| 5.28 | Kd | 5200 | nM | TAE-684 |
| 5.23 | Kd | 5900 | nM | SB-431542 |
| 5.15 | Kd | 7100 | nM | LESTAURTINIB |
PubChem BioAssay actives
22 with measured affinity, of 191 total; 15 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| (2S,3R,4R,6R)-3-methoxy-2-methyl-4-(methylamino)-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-16-one | 435281: Binding constant for full-length CSNK1A1L | kd | 0.2500 | uM |
| Sunitinib | 435281: Binding constant for full-length CSNK1A1L | kd | 0.5500 | uM |
| (E)-N-[4-(3-chloro-4-fluoroanilino)-3-cyano-7-ethoxyquinolin-6-yl]-4-(dimethylamino)but-2-enamide | 435281: Binding constant for full-length CSNK1A1L | kd | 1.0000 | uM |
| 5-[(Z)-(5-fluoro-2-oxo-1H-indol-3-ylidene)methyl]-N-[(2S)-2-hydroxy-3-morpholin-4-ylpropyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide | 435281: Binding constant for full-length CSNK1A1L | kd | 1.5000 | uM |
| 4-[4-(4-fluorophenyl)-2-(4-methylsulfinylphenyl)-1H-imidazol-5-yl]pyridine | 435281: Binding constant for full-length CSNK1A1L | kd | 1.7000 | uM |
| 4-[4-(4-fluorophenyl)-2-(4-methylsulfonylphenyl)-1H-imidazol-5-yl]pyridine | 1899314: Binding affinity to CK1a1L (unknown origin) | kd | 1.7000 | uM |
| 3-[2,4-diamino-7-(3-hydroxyphenyl)pteridin-6-yl]phenol | 624723: Binding constant for CSNK1A1L kinase domain | kd | 1.9000 | uM |
| 4-[4-(4-fluorophenyl)-5-pyridin-4-yl-1H-imidazol-2-yl]phenol | 435281: Binding constant for full-length CSNK1A1L | kd | 1.9000 | uM |
| 2-(4-amino-1-propan-2-ylpyrazolo[3,4-d]pyrimidin-3-yl)-1H-indol-5-ol | 624723: Binding constant for CSNK1A1L kinase domain | kd | 2.0000 | uM |
| 2-(2-chlorophenyl)-5,7-dihydroxy-8-[(3S,4R)-3-hydroxy-1-methylpiperidin-4-yl]chromen-4-one | 624723: Binding constant for CSNK1A1L kinase domain | kd | 2.4000 | uM |
| Bosutinib | 624723: Binding constant for CSNK1A1L kinase domain | kd | 2.6000 | uM |
| (2S)-1-[[5-(3-methyl-2H-indazol-5-yl)-3-pyridinyl]oxy]-3-phenylpropan-2-amine | 624723: Binding constant for CSNK1A1L kinase domain | kd | 4.6000 | uM |
| 5-chloro-2-N-[2-methoxy-4-[4-(4-methylpiperazin-1-yl)piperidin-1-yl]phenyl]-4-N-(2-propan-2-ylsulfonylphenyl)pyrimidine-2,4-diamine | 624723: Binding constant for CSNK1A1L kinase domain | kd | 5.2000 | uM |
| 4-[4-(1,3-benzodioxol-5-yl)-5-pyridin-2-yl-1H-imidazol-2-yl]benzamide | 435281: Binding constant for full-length CSNK1A1L | kd | 5.9000 | uM |
| (15S,16S,18R)-16-hydroxy-16-(hydroxymethyl)-15-methyl-28-oxa-4,14,19-triazaoctacyclo[12.11.2.115,18.02,6.07,27.08,13.019,26.020,25]octacosa-1,6,8,10,12,20,22,24,26-nonaen-3-one | 624723: Binding constant for CSNK1A1L kinase domain | kd | 7.1000 | uM |
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| bisphenol A | decreases methylation | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Coal | increases abundance, increases expression | 1 |
| Furaldehyde | affects cotreatment, affects localization, decreases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Sodium Chloride | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| Urethane | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
ChEMBL screening assays
93 unique, capped per target: 93 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1033256 | Binding | Inhibition of CSNK1A1L at 3 uM | Discovery of substituted 4-(pyrazol-4-yl)-phenylbenzodioxane-2-carboxamides as potent and highly selective Rho kinase (ROCK-II) inhibitors. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): sporadic amyotrophic lateral sclerosis