CSNK1G1
Casein kinase I isoform gamma-1
Also known as: CK1gamma1, KC1G1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9HCP0
- Gene
- CSNK1G1
- Ensembl
- ENSG00000169118
- Chromosome
- 15
- Canonical length
- 422 aa
- Protein class
- Enzymes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016]
Canonical amino-acid sequenceUniProt
422 residues, UniProt reviewed canonical sequence.
>Q9HCP0|CSNK1G1
1 MDHPSREKDE RQRTTKPMAQ RSAHCSRPSG SSSSSGVLMV GPNFRVGKKI GCGNFGELRL
61 GKNLYTNEYV AIKLEPIKSR APQLHLEYRF YKQLGSAGEG LPQVYYFGPC GKYNAMVLEL
121 LGPSLEDLFD LCDRTFTLKT VLMIAIQLLS RMEYVHSKNL IYRDVKPENF LIGRQGNKKE
181 HVIHIIDFGL AKEYIDPETK KHIPYREHKS LTGTARYMSI NTHLGKEQSR RDDLEALGHM
241 FMYFLRGSLP WQGLKADTLK ERYQKIGDTK RNTPIEALCE NFPEEMATYL RYVRRLDFFE
301 KPDYEYLRTL FTDLFEKKGY TFDYAYDWVG RPIPTPVGSV HVDSGASAIT RESHTHRDRP
361 SQQQPLRNQV VSSTNGELNV DDPTGAHSNA PITAHAEVEV VEEAKCCCFF KRKRKKTAQR
421 HKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CSNK1G1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- testis: 33 nTPM
- retina: 13 nTPM
- thymus: 8.7 nTPM
- bone marrow: 8.5 nTPM
- esophagus: 7.5 nTPM
- thyroid gland: 7.4 nTPM
Single-cell type
- late spermatids: 287 nCPM
- early spermatids: 123 nCPM
- ependymal cells: 115 nCPM
- choroid plexus epithelial cells: 104 nCPM
- microglia: 77 nCPM
- brain excitatory neurons: 66 nCPM
Immune cell
- neutrophil: 4.5 nTPM
- MAIT T-cell: 4.1 nTPM
- eosinophil: 3.1 nTPM
- gdT-cell: 2.8 nTPM
- intermediate monocyte: 2.8 nTPM
- NK-cell: 2.8 nTPM
Brain region
- hippocampal formation: 36 nTPM
- hypothalamus: 30 nTPM
- basal ganglia: 29 nTPM
- choroid plexus: 28 nTPM
- cerebral cortex: 28 nTPM
- cerebellum: 28 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CSNK1G1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 71 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- CSNK1G1-related developmental disorder with autism spectrum disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.22
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.99
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endocytosis
- positive regulation of canonical Wnt signaling pathway
- signal transduction
- Wnt signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CSNK1G1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CSNK1G1 as an antibody target. Whether an autoantibody or antibody against CSNK1G1 could matter depends on whether native CSNK1G1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CSNK1G1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CSNK1G1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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