Aliases for SIK1 Gene
Aliases for SIK1 Gene
External Ids for SIK1 Gene
- HGNC: 11142
- Entrez Gene: 150094
- Ensembl: ENSG00000142178
- OMIM: 605705
- UniProtKB: P57059
Previous HGNC Symbols for SIK1 Gene
- SNF1LK
Previous GeneCards Identifiers for SIK1 Gene
- GC21M043659
- GC21M044836
- GC21M030202
Summaries for SIK1 Gene
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 Glucagon signaling pathway and BMAL1-CLOCK,NPAS2 activates circadian gene expression. 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 LOC102724428.
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).
No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIK1 Gene
Genomics for SIK1 Gene
Regulatory Elements for SIK1 Gene
Enhancers for SIK1 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around SIK1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the SIK1 gene promoter:
Regulatory Element Products
Genomic Location for SIK1 Gene
- Chromosome:
- 21
- Start:
- 43,414,509 bp from pter
- End:
- 43,427,128 bp from pter
- Size:
- 12,620 bases
- Orientation:
- Minus strand
Genomic View for SIK1 Gene
Genes around SIK1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.3 by Ensembl
- 21q22.3 by Entrez Gene
- 21q22.3 by HGNC
SIK1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for SIK1 Gene
Selected DME Specific Peptides 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:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for SIK1
- Novus Biologicals Antibodies for SIK1
- Invitrogen Antibodies for SIK1
- antibodies-online Antibodies for SIK1: See all 99
- GeneTex SIK1 antibody for SIK1
-
Custom Antibody ServicesProSci Antibodies for SIK1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SIK1
Protein Products
- EMD Millipore Purified and/or Recombinant SIK1 Protein
-
OriGene Purified Proteins for SIK1
- Search Origene for MassSpec and Protein Over-expression Lysates for SIK1
- Origene Custom Protein Services for SIK1
- Search GeneTex for Proteins for SIK1
Assay Products
- antibodies-online Kits for SIK1: See all 3
Domains & Families for SIK1 Gene
Gene Families for SIK1 Gene
- IUPHAR :
Protein Domains for SIK1 Gene
Suggested Antigen Peptide Sequences for SIK1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P57059UniProtKB/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.
- Contains 1 protein kinase domain.
- Contains 1 UBA domain.
- Family:
-
- Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. AMPK subfamily.
Function for SIK1 Gene
Molecular function for SIK1 Gene
- 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.
- 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).
Enzyme Numbers (IUBMB) for SIK1 Gene
- EC 2.7.11.1 63 4
- EC 2.7.11 63
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000287 | magnesium ion binding | ISS | -- |
| GO:0071889 | 14-3-3 protein binding | IDA | 18348280 |
Phenotypes for SIK1 Gene
- GenomeRNAi human phenotypes for SIK1:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased HIV-LTR-beta-galactosidase protein expression
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased cell viability after pRB stimulation
- Decreased substrate adherent cell growth
- Decreased cell proliferation
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Increased simian virus 40 (SV40) infection
Animal Model Products
-
Taconic Biosciences Mouse Models for SIK1
-
ViGene Biosciences lentiviral particle packaged cDNA for SIK1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SIK1 gene
- Search ViGene Biosciences for SIK1
CRISPR Products
-
OriGene CRISPR knockouts for SIK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SIK1
- GenScript: Design CRISPR guide RNA sequences for SIK1
miRNA for SIK1 Gene
- miRTarBase miRNAs that target SIK1
-
- hsa-mir-32-5p (MIRT028368)
- hsa-mir-28-5p (MIRT050012)
- hsa-let-7a-5p (MIRT052414)
- hsa-mir-148a-3p (MIRT155749)
- hsa-mir-152-3p (MIRT155756)
- hsa-mir-148b-3p (MIRT155763)
- hsa-mir-6165 (MIRT155871)
- hsa-mir-17-5p (MIRT155884)
- hsa-mir-20a-5p (MIRT155886)
- hsa-mir-93-5p (MIRT155889)
- hsa-mir-106a-5p (MIRT155892)
- hsa-mir-106b-5p (MIRT155897)
- hsa-mir-302a-3p (MIRT155899)
- hsa-mir-302b-3p (MIRT155900)
- hsa-mir-302c-3p (MIRT155901)
- hsa-mir-302d-3p (MIRT155902)
- hsa-mir-372-3p (MIRT155904)
- hsa-mir-373-3p (MIRT155905)
- hsa-mir-20b-5p (MIRT155910)
- hsa-mir-520e (MIRT155916)
- hsa-mir-520a-3p (MIRT155918)
- hsa-mir-526b-3p (MIRT155919)
- hsa-mir-520b (MIRT155921)
- hsa-mir-520c-3p (MIRT155922)
- hsa-mir-519d-3p (MIRT155923)
- hsa-mir-520d-3p (MIRT155924)
- hsa-mir-668-3p (MIRT155947)
- hsa-mir-302e (MIRT155970)
- hsa-mir-3609 (MIRT156002)
- hsa-mir-548ah-5p (MIRT156020)
- hsa-mir-142-3p (MIRT439638)
- hsa-mir-6848-5p (MIRT468041)
- hsa-mir-6846-5p (MIRT468042)
- hsa-mir-4697-5p (MIRT468043)
- hsa-mir-4488 (MIRT468044)
- hsa-mir-1237-5p (MIRT468045)
- hsa-mir-486-3p (MIRT468046)
- hsa-mir-873-5p (MIRT468047)
- hsa-mir-761 (MIRT468048)
- hsa-mir-3619-5p (MIRT468049)
- hsa-mir-214-3p (MIRT468050)
- hsa-mir-6858-3p (MIRT468051)
- hsa-mir-15a-5p (MIRT468052)
- hsa-mir-497-5p (MIRT468053)
- hsa-mir-15b-5p (MIRT468054)
- hsa-mir-424-5p (MIRT468055)
- hsa-mir-195-5p (MIRT468056)
- hsa-mir-6838-5p (MIRT468057)
- hsa-mir-16-5p (MIRT468058)
- hsa-mir-4696 (MIRT492262)
- hsa-mir-130b-3p (MIRT492263)
- hsa-mir-130a-3p (MIRT492264)
- hsa-mir-301a-3p (MIRT492265)
- hsa-mir-301b-3p (MIRT492266)
- hsa-mir-3666 (MIRT492267)
- hsa-mir-4295 (MIRT492268)
- hsa-mir-454-3p (MIRT492269)
- hsa-mir-370-5p (MIRT505639)
- hsa-mir-636 (MIRT546491)
- hsa-mir-616-3p (MIRT546492)
- hsa-mir-6776-3p (MIRT546493)
- hsa-mir-4796-3p (MIRT546494)
- hsa-mir-559 (MIRT546495)
- hsa-mir-548y (MIRT546496)
- hsa-mir-548w (MIRT546497)
- hsa-mir-548o-5p (MIRT546498)
- hsa-mir-548j-5p (MIRT546499)
- hsa-mir-548i (MIRT546500)
- hsa-mir-548d-5p (MIRT546501)
- hsa-mir-548h-5p (MIRT546502)
- hsa-mir-548c-5p (MIRT546503)
- hsa-mir-548bb-5p (MIRT546504)
- hsa-mir-548b-5p (MIRT546505)
- hsa-mir-548ay-5p (MIRT546506)
- hsa-mir-548au-5p (MIRT546507)
- hsa-mir-548as-5p (MIRT546508)
- hsa-mir-548ar-5p (MIRT546509)
- hsa-mir-548aq-5p (MIRT546510)
- hsa-mir-548ap-5p (MIRT546511)
- hsa-mir-548am-5p (MIRT546512)
- hsa-mir-548ak (MIRT546513)
- hsa-mir-548ae-5p (MIRT546514)
- hsa-mir-548ad-5p (MIRT546515)
- hsa-mir-548ab (MIRT546516)
- hsa-mir-548a-5p (MIRT546517)
- hsa-mir-520f-3p (MIRT546518)
- hsa-mir-3939 (MIRT612493)
- hsa-mir-8485 (MIRT612494)
- hsa-mir-4801 (MIRT612495)
- hsa-mir-4731-3p (MIRT612496)
- hsa-mir-3529-3p (MIRT675553)
- hsa-mir-92b-3p (MIRT726576)
- hsa-mir-92a-3p (MIRT726577)
miRNA Products
- Search ViGene Biosciences for SIK1
Clone Products
- OriGene clones in human for SIK1
- OriGene ORF clones in human,mouse,rat for SIK1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SIK1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for SIK1
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for SIK1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SIK1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SIK1 gene
Flow Cytometry Products
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| endoplasmic reticulum | 1 |
| extracellular | 1 |
| peroxisome | 1 |
| plasma membrane | 1 |
No data available for Gene Ontology (GO) - Cellular Components for SIK1 Gene
Pathways & Interactions for SIK1 Gene
More details on SuperPathways for SIK1Pathways by source for SIK1 Gene
1 BioSystems pathway for SIK1 Gene
2 Reactome pathways for SIK1 Gene
1 KEGG pathway for SIK1 Gene
Interacting Proteins for SIK1 Gene
Selected Interacting proteins:
ENSP00000270162
P57059-SIK1_HUMAN
for SIK1 Gene via
STRING
UniProtKB
I2D
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006468 | protein phosphorylation | IEA,ISS | -- |
| GO:0007346 | regulation of mitotic cell cycle | ISS | -- |
| GO:0010868 | negative regulation of triglyceride biosynthetic process | ISS | -- |
| GO:0032792 | negative regulation of CREB transcription factor activity | ISS | -- |
| GO:0043153 | entrainment of circadian clock by photoperiod | ISS | -- |
Transcripts for SIK1 Gene
mRNA/cDNA for SIK1 Gene
- (2) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (197) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SIK1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SIK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SIK1
- GenScript: Design CRISPR guide RNA sequences for SIK1
miRNA Products
- Search ViGene Biosciences for SIK1
Clone Products
- OriGene clones in human for SIK1
- OriGene ORF clones in human,mouse,rat for SIK1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SIK1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for SIK1
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||
| SP3: |
Expression 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).
This gene is overexpressed in Plasma (55.9) and Adipocyte (12.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SIK1 Gene
SOURCE GeneReport for Unigene cluster for SIK1 Gene Hs.282113
- Elite partner
Primer Products
-
OriGene qPCR primer pairs for SIK1
-
OriGene qPCR primer pairs and template standards for SIK1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | SIK1 36 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SIK1 36 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SIK1 36 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Sik1 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SIK1 36 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | SIK1 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SIK1 36 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SIK1 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.7313 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:ch211-235e18.3 35 |
|
||
| SIK1 36 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | KP78a 36 |
|
ManyToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | kin-29 36 |
|
OneToMany |
- Species with no ortholog for SIK1:
-
- 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)
Paralogs for SIK1 Gene
Paralogs for SIK1 Gene
(42) SIMAP similar genes for SIK1 Gene using alignment to 1 proteins:
Variants for SIK1 Gene
| SNP ID | Clin | Chr 21 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs430554 | - | 43,417,675(+) | CGGGG(A/G)CCTGG | reference, missense | |
| rs34164089 | - | 43,419,195(-) | TGTTC(C/T)GGCCC | reference, missense | |
| rs3746951 | - | 43,426,136(+) | CTGAC(C/T)CTGGC | reference, missense | |
| rs45491503 | - | 43,421,713(+) | ATGGT(C/T)GTGAC | reference, missense | |
| VAR_041089 | A glioblastoma multiforme sample |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2666871 | CNV | Deletion | 23128226 |
| nsv913831 | CNV | Loss | 21882294 |
| nsv913837 | CNV | Loss | 21882294 |
| dgv4755n71 | CNV | Loss | 21882294 |
| dgv4756n71 | CNV | Loss | 21882294 |
| nsv470901 | CNV | Loss | 18288195 |
| dgv4757n71 | CNV | Gain | 21882294 |
| dgv4758n71 | CNV | Loss | 21882294 |
| nsv820461 | CNV | Duplication | 20802225 |
| esv32887 | CNV | Gain | 17666407 |
| dgv720n67 | CNV | Loss | 20364138 |
| dgv535n27 | CNV | Gain | 19166990 |
| nsv913850 | CNV | Gain | 21882294 |
| nsv470902 | CNV | Gain | 18288195 |
| esv23456 | CNV | Loss | 19812545 |
| nsv819251 | CNV | Loss | 19587683 |
| esv2421642 | CNV | Duplication | 20811451 |
| nsv817933 | CNV | Gain | 17921354 |
| nsv516339 | CNV | Gain+Loss | 19592680 |
| dgv4759n71 | CNV | Loss | 21882294 |
| nsv913861 | CNV | Loss | 21882294 |
| dgv4760n71 | CNV | Loss | 21882294 |
| nsv459288 | CNV | Loss | 19166990 |
| nsv913865 | CNV | Gain | 21882294 |
| nsv828898 | CNV | Loss | 20364138 |
| nsv913869 | CNV | Loss | 21882294 |
| dgv721n67 | CNV | Gain | 20364138 |
| nsv828900 | CNV | Gain | 20364138 |
| nsv828901 | CNV | Gain | 20364138 |
| nsv828903 | CNV | Loss | 20364138 |
| nsv828904 | CNV | Gain | 20364138 |
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)
Relevant External Links for SIK1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIK1 Gene
Disorders for SIK1 Gene
(9) MalaCards diseases for SIK1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 30 |
|
|
| early myoclonic encephalopathy |
|
|
| ohtahara syndrome |
|
|
| west syndrome |
|
|
| tracheitis |
|
|
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}.
Relevant External Links for SIK1
No data available for Genatlas for SIK1 Gene
Publications for SIK1 Gene
- Identification of novel protein kinases expressed in the myocardium of the developing mouse heart. (PMID: 7893599) Ruiz J.C. … Robertson E.J. (Mech. Dev. 1994) 2 3 23 67
- The ubiquitin-associated domain of AMPK-related kinases regulates conformation and LKB1-mediated phosphorylation and activation. (PMID: 16396636) Jaleel M. … Alessi D.R. (Biochem. J. 2006) 3 23
- De novo mutations in SIK1 cause a spectrum of developmental epilepsies. (PMID: 25839329) Hansen J. … Paciorkowski A.R. (Am. J. Hum. Genet. 2015) 3
- A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3
- Regulation of SIK1 abundance and stability is critical for myogenesis. (PMID: 23256157) Stewart R. … Berdeaux R. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3
Products for SIK1 Gene
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