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Aliases for SIK1 Gene

Aliases for SIK1 Gene

  • Salt Inducible Kinase 1 2 3 5
  • Serine/Threonine-Protein Kinase SNF1-Like Kinase 1 3 4
  • Serine/Threonine-Protein Kinase SNF1LK 3 4
  • Myocardial SNF1-Like Kinase 2 3
  • SNF1-Like Kinase 2 3
  • SNF1LK 3 4
  • SIK-1 3 4
  • SIK 3 4
  • Serine/Threonine-Protein Kinase SIK1 3
  • Salt-Inducible Protein Kinase 1 3
  • Salt-Inducible Kinase 1 4
  • EC 2.7.11.1 4
  • MSK 3

External Ids for SIK1 Gene

Previous HGNC Symbols for SIK1 Gene

  • SNF1LK

Previous GeneCards Identifiers for SIK1 Gene

  • GC21M043659
  • GC21M044836
  • GC21M030202

Summaries for SIK1 Gene

Entrez Gene Summary for SIK1 Gene

  • This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily of kinases that play a role in conserved signal transduction pathways. A mutation in this gene is associated with early infantile epileptic encephalopathy 30. [provided by RefSeq, Nov 2016]

GeneCards Summary for SIK1 Gene

SIK1 (Salt Inducible Kinase 1) is a Protein Coding gene. Diseases associated with SIK1 include Epileptic Encephalopathy, Early Infantile, 30 and Early Myoclonic Encephalopathy. Among its related pathways are LKB1 signaling events and BMAL1-CLOCK,NPAS2 activates circadian gene expression. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is SIK1B.

UniProtKB/Swiss-Prot for SIK1 Gene

  • Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, gluconeogenesis and lipogenesis regulation, muscle growth and differentiation and tumor suppression. Phosphorylates HDAC4, HDAC5, PPME1, SREBF1, CRTC1/TORC1 and CRTC2/TORC2. Acts as a tumor suppressor and plays a key role in p53/TP53-dependent anoikis, a type of apoptosis triggered by cell detachment: required for phosphorylation of p53/TP53 in response to loss of adhesion and is able to suppress metastasis. Part of a sodium-sensing signaling network, probably by mediating phosphorylation of PPME1: following increases in intracellular sodium, SIK1 is activated by CaMK1 and phosphorylates PPME1 subunit of protein phosphatase 2A (PP2A), leading to dephosphorylation of sodium/potassium-transporting ATPase ATP1A1 and subsequent increase activity of ATP1A1. Acts as a regulator of muscle cells by phosphorylating and inhibiting class II histone deacetylases HDAC4 and HDAC5, leading to promote expression of MEF2 target genes in myocytes. Also required during cardiomyogenesis by regulating the exit of cardiomyoblasts from the cell cycle via down-regulation of CDKN1C/p57Kip2. Acts as a regulator of hepatic gluconeogenesis by phosphorylating and repressing the CREB-specific coactivators CRTC1/TORC1 and CRTC2/TORC2, leading to inhibit CREB activity. Also regulates hepatic lipogenesis by phosphorylating and inhibiting SREBF1. In concert with CRTC1/TORC1, regulates the light-induced entrainment of the circadian clock by attenuating PER1 induction; represses CREB-mediated transcription of PER1 by phosphorylating and deactivating CRTC1/TORC1 (By similarity).

Gene Wiki entry for SIK1 Gene

Additional gene information for SIK1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIK1 Gene

Genomics for SIK1 Gene

GeneHancer (GH) Regulatory Elements for SIK1 Gene

Promoters and enhancers for SIK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J043423 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 -0.4 -405 8.4 PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A YY1 ZNF766 ZNF213 ZNF207 SIK1 RRP1B FRGCA WDR4 CBS LINC00319
GH21J043158 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23.6 +264.6 264633 7.7 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B YBX1 DMAP1 IRF4 ENSG00000228120 WDR4 RRP1B U2AF1 ENSG00000233754 PWP2 SIK1 TRAPPC10 HSF2BP CRYAA
GH21J043724 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13 -305.7 -305710 17.4 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 PDXK WDR4 RRP1B U2AF1 PWP2 ENSG00000233754 HSF2BP ENSG00000184441 TRPM2 SIK1
GH21J044239 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13 -816.1 -816109 6.9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B NEUROD1 SIN3A DMAP1 ICOSLG ENSG00000275799 ENSG00000278158 ENSG00000184441 C21orf2 SIK1 UBE2G2 HSF2BP PWP2 TRAPPC10
GH21J043379 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 20.8 +45.4 45431 4.7 PKNOX1 ZSCAN4 BMI1 ATF7 BCLAF1 IKZF2 RUNX3 CREM EGR2 CBFB SIK1 PKNOX1 PIR50990 ENSG00000225637
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SIK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SIK1 gene promoter:

Genomic Locations for SIK1 Gene

Genomic Locations for SIK1 Gene
chr21:43,414,483-43,427,189
(GRCh38/hg38)
Size:
12,707 bases
Orientation:
Minus strand
chr21:44,834,395-44,847,008
(GRCh37/hg19)

Genomic View for SIK1 Gene

Genes around SIK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIK1 Gene

Proteins for SIK1 Gene

  • Protein details for SIK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57059-SIK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase SIK1
    Protein Accession:
    P57059
    Secondary Accessions:
    • A6NC84
    • Q5R2V5
    • Q6ZNL8
    • Q86YJ2

    Protein attributes for SIK1 Gene

    Size:
    783 amino acids
    Molecular mass:
    84902 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with ATP1A1 (By similarity). Interacts (when phosphorylated on Thr-182 and Ser-186) with YWHAZ.

neXtProt entry for SIK1 Gene

Post-translational modifications for SIK1 Gene

  • Phosphorylated at Thr-182 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39, leading to its activation. Phosphorylation at Thr-182 promotes autophosphorylation at Ser-186, which is required for sustained activity. Autophosphorylation at Ser-186 is maintained by sequential phosphorylation at Thr-182 by GSK3-beta. GSK3-beta cannot initiate phosphorylation at Thr-182, it can only maintain it. Phosphorylation at Ser-575 by PKA promotes translocation to the cytoplasm. Phosphorylation at Thr-322 by CaMK1 following intracellular sodium concentration leads to activation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SIK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SIK1 Gene

Domains & Families for SIK1 Gene

Gene Families for SIK1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for SIK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P57059

UniProtKB/Swiss-Prot:

SIK1_HUMAN :
  • The RK-rich region determines the subcellular location.
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. AMPK subfamily.
Domain:
  • The RK-rich region determines the subcellular location.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. AMPK subfamily.
genes like me logo Genes that share domains with SIK1: view

Function for SIK1 Gene

Molecular function for SIK1 Gene

UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, gluconeogenesis and lipogenesis regulation, muscle growth and differentiation and tumor suppression. Phosphorylates HDAC4, HDAC5, PPME1, SREBF1, CRTC1/TORC1 and CRTC2/TORC2. Acts as a tumor suppressor and plays a key role in p53/TP53-dependent anoikis, a type of apoptosis triggered by cell detachment: required for phosphorylation of p53/TP53 in response to loss of adhesion and is able to suppress metastasis. Part of a sodium-sensing signaling network, probably by mediating phosphorylation of PPME1: following increases in intracellular sodium, SIK1 is activated by CaMK1 and phosphorylates PPME1 subunit of protein phosphatase 2A (PP2A), leading to dephosphorylation of sodium/potassium-transporting ATPase ATP1A1 and subsequent increase activity of ATP1A1. Acts as a regulator of muscle cells by phosphorylating and inhibiting class II histone deacetylases HDAC4 and HDAC5, leading to promote expression of MEF2 target genes in myocytes. Also required during cardiomyogenesis by regulating the exit of cardiomyoblasts from the cell cycle via down-regulation of CDKN1C/p57Kip2. Acts as a regulator of hepatic gluconeogenesis by phosphorylating and repressing the CREB-specific coactivators CRTC1/TORC1 and CRTC2/TORC2, leading to inhibit CREB activity. Also regulates hepatic lipogenesis by phosphorylating and inhibiting SREBF1. In concert with CRTC1/TORC1, regulates the light-induced entrainment of the circadian clock by attenuating PER1 induction; represses CREB-mediated transcription of PER1 by phosphorylating and deactivating CRTC1/TORC1 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by phosphorylation on Thr-182. Also activated by phosphorylation on Thr-322 in response to increases in intracellular sodium in parallel with elevations in intracellular calcium through the reversible sodium/calcium exchanger.

Enzyme Numbers (IUBMB) for SIK1 Gene

Phenotypes From GWAS Catalog for SIK1 Gene

Gene Ontology (GO) - Molecular Function for SIK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding ISS --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IDA 14976552
GO:0005515 protein binding IPI 16306228
GO:0005524 ATP binding ISS,IEA --
genes like me logo Genes that share ontologies with SIK1: view
genes like me logo Genes that share phenotypes with SIK1: view

Human Phenotype Ontology for SIK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SIK1

CRISPR Products

miRNA for SIK1 Gene

miRTarBase miRNAs that target SIK1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SIK1

Clone Products

  • Addgene plasmids for SIK1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for SIK1 Gene

Localization for SIK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIK1 Gene

Cytoplasm. Nucleus. Note=Following ACTH (adrenocorticotropic hormone) treatment and subsequent phosphorylation by PKA, translocates to the cytoplasm, where it binds to YWHAZ.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SIK1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SIK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16306228
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with SIK1: view

Pathways & Interactions for SIK1 Gene

genes like me logo Genes that share pathways with SIK1: view

Pathways by source for SIK1 Gene

SIGNOR curated interactions for SIK1 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for SIK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002028 regulation of sodium ion transport ISS --
GO:0006468 protein phosphorylation ISS,IEA --
GO:0007049 cell cycle IEA --
GO:0007275 multicellular organism development IEA --
GO:0007346 regulation of mitotic cell cycle ISS --
genes like me logo Genes that share ontologies with SIK1: view

Drugs & Compounds for SIK1 Gene

(5) Drugs for SIK1 Gene - From: DrugBank, ApexBio, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dabrafenib Approved, Investigational Pharma Target, antagonist, inhibitor BRAF kinase inhibitor, Kinase Inhibitors, Mutant BRAF Kinase 92
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Tafinlar Approved May 2013 Pharma 0
Magnesium Approved Nutra 0
HG-9-91-01 Pharma Pan-SIK (salt-inducible kinases) inhibitor 0

(1) ApexBio Compounds for SIK1 Gene

Compound Action Cas Number
HG-9-91-01 Pan-SIK (salt-inducible kinases) inhibitor 1456858-58-4
genes like me logo Genes that share compounds with SIK1: view

Drug Products

Transcripts for SIK1 Gene

mRNA/cDNA for SIK1 Gene

(197) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SIK1 Gene

Salt-inducible kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SIK1

Clone Products

  • Addgene plasmids for SIK1

Alternative Splicing Database (ASD) splice patterns (SP) for SIK1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: -
SP2:
SP3:

Relevant External Links for SIK1 Gene

GeneLoc Exon Structure for
SIK1
ECgene alternative splicing isoforms for
SIK1

Expression for SIK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SIK1 Gene

mRNA differential expression in normal tissues according to GTEx for SIK1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x7.4) and Skin - Sun Exposed (Lower leg) (x5.1).

Protein differential expression in normal tissues from HIPED for SIK1 Gene

This gene is overexpressed in Plasma (55.9) and Adipocyte (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SIK1 Gene



Protein tissue co-expression partners for SIK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SIK1 Gene:

SIK1

SOURCE GeneReport for Unigene cluster for SIK1 Gene:

Hs.282113

Evidence on tissue expression from TISSUES for SIK1 Gene

  • Lung(4.5)
  • Spleen(4.3)
  • Nervous system(2.9)
  • Muscle(2.4)
  • Bone marrow(2.3)
  • Skin(2.3)
  • Adrenal gland(2.2)
  • Liver(2.2)
  • Kidney(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SIK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SIK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for SIK1 Gene

Orthologs for SIK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SIK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIK1 34
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sik1 34
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SIK1 34
  • 80 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SIK1 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SIK1 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SIK1 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves SIK1 34
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIK1 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7313 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-235e18.3 33
  • 64.38 (n)
SIK1 34
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta KP78a 34
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea kin-29 34
  • 24 (a)
OneToMany
Species where no ortholog for SIK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SIK1 Gene

ENSEMBL:
Gene Tree for SIK1 (if available)
TreeFam:
Gene Tree for SIK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SIK1: view image

Paralogs for SIK1 Gene

Paralogs for SIK1 Gene

genes like me logo Genes that share paralogs with SIK1: view

Variants for SIK1 Gene

Sequence variations from dbSNP and Humsavar for SIK1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs112011493 likely-benign, Epileptic encephalopathy, early infantile, 30 43,420,416(-) C/T coding_sequence_variant, missense_variant
rs112660017 benign, Epileptic encephalopathy, early infantile, 30 43,420,276(-) A/G coding_sequence_variant, synonymous_variant
rs113379599 benign, Epileptic encephalopathy, early infantile, 30 43,420,300(-) G/A coding_sequence_variant, synonymous_variant
rs113434279 benign, Epileptic encephalopathy, early infantile, 30 43,418,399(-) C/A/T coding_sequence_variant, synonymous_variant
rs113514102 benign, Epileptic encephalopathy, early infantile, 30 43,420,255(-) C/A coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for SIK1 Gene

Variant ID Type Subtype PubMed ID
dgv1274e212 CNV gain 25503493
dgv2398n106 CNV deletion 24896259
dgv535n27 CNV gain 19166990
dgv720n67 CNV loss 20364138
dgv721n67 CNV gain 20364138
dgv7868n54 CNV gain 21841781
dgv7869n54 CNV gain 21841781
dgv7870n54 CNV gain 21841781
dgv7871n54 CNV loss 21841781
dgv97e203 CNV gain 21179565
esv23456 CNV loss 19812545
esv2421642 CNV duplication 20811451
esv2666871 CNV deletion 23128226
esv32887 CNV gain 17666407
nsv1056684 CNV gain 25217958
nsv1073135 CNV deletion 25765185
nsv459288 CNV loss 19166990
nsv470901 CNV loss 18288195
nsv470902 CNV gain 18288195
nsv483099 CNV gain 15286789
nsv516339 CNV gain+loss 19592680
nsv587683 CNV loss 21841781
nsv587684 CNV gain 21841781
nsv817933 CNV gain 17921354
nsv819251 CNV loss 19587683
nsv820461 CNV duplication 20802225
nsv828898 CNV loss 20364138
nsv828900 CNV gain 20364138
nsv828901 CNV gain 20364138
nsv828903 CNV loss 20364138
nsv828904 CNV gain 20364138
nsv953640 CNV deletion 24416366

Variation tolerance for SIK1 Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.77; 78.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIK1 Gene

Human Gene Mutation Database (HGMD)
SIK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIK1 Gene

Disorders for SIK1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SIK1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 30
  • eiee30
early myoclonic encephalopathy
  • epileptic seizures - myoclonic
west syndrome
  • epileptic encephalopathy, early infantile, 1
epileptic encephalopathy, early infantile, 15
  • eiee15
bone lymphoma
  • lymphoma of bone
- elite association - COSMIC cancer census association via MalaCards
Search SIK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SIK1_HUMAN
  • Epileptic encephalopathy, early infantile, 30 (EIEE30) [MIM:616341]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269 PubMed:25839329}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in SIK1 may be associated with some cancers, such as breast cancers. Loss of SIK1 correlates with poor patient outcome in breast cancers (PubMed:19622832). {ECO:0000269 PubMed:19622832}.

Additional Disease Information for SIK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SIK1: view

No data available for Genatlas for SIK1 Gene

Publications for SIK1 Gene

  1. Identification of novel protein kinases expressed in the myocardium of the developing mouse heart. (PMID: 7893599) Ruiz JC … Robertson EJ (Mechanisms of development 1994) 2 3 22 58
  2. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. (PMID: 25839329) Hansen J … Paciorkowski AR (American journal of human genetics 2015) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. SIK1 couples LKB1 to p53-dependent anoikis and suppresses metastasis. (PMID: 19622832) Cheng H … Zhao JJ (Science signaling 2009) 3 4 58
  5. Importance of autophosphorylation at Ser186 in the A-loop of salt inducible kinase 1 for its sustained kinase activity. (PMID: 18348280) Hashimoto YK … Takemori H (Journal of cellular biochemistry 2008) 3 4 58

Products for SIK1 Gene

Sources for SIK1 Gene

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