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    SIK1 salt inducible kinase 1 [ Homo sapiens (human) ]

    Gene ID: 150094, updated on 29-Oct-2024

    Summary

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    Official Symbol
    SIK1provided by HGNC
    Official Full Name
    salt inducible kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:11142
    See related
    Ensembl:ENSG00000142178 MIM:605705; AllianceGenome:HGNC:11142
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MSK; SIK; DEE30; SIK-1; SIK1B; SNF1LK
    Summary
    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]
    Expression
    Ubiquitous expression in adrenal (RPKM 28.1), liver (RPKM 25.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SIK1 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (43414483..43427131, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (41769738..41782385, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (44834363..44847011, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak4419 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44817000-44817548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44817549-44818097 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44818515-44819191 Neighboring gene long intergenic non-protein coding RNA 3039 Neighboring gene uncharacterized LOC124905028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44828891-44829414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44829939-44830462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44830463-44830986 Neighboring gene Sharpr-MPRA regulatory region 3188 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr21:44833640-44834222 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44834223-44834804 Neighboring gene uncharacterized LOC124905029 Neighboring gene Sharpr-MPRA regulatory region 10850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44853691-44854192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44854193-44854692 Neighboring gene SIK1-LINC00319 intergenic CAGE-defined high expression enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44865413-44866032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44866033-44866652 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:44867273-44867892 Neighboring gene uncharacterized LOC124900467 Neighboring gene long intergenic non-protein coding RNA 319 Neighboring gene heat shock transcription factor 2 binding protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Integrated bioinformatics analyses identifying potential biomarkers for type 2 diabetes mellitus and breast cancer: In SIK1-ness and health. Durrani IA, et al. PLoS One, 2023. PMID 37556419, Free PMC Article
    2. Role of SIK1 in tumors: Emerging players and therapeutic potentials (Review). Zhang X, et al. Oncol Rep, 2024 Dec. PMID 39422046
    3. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Hansen J, et al. Am J Hum Genet, 2015 Apr 2. PMID 25839329, Free PMC Article
    4. Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology. Pröschel C, et al. Eur J Hum Genet, 2017 Feb. PMID 27966542, Free PMC Article
    5. Role of salt inducible kinase 1 in high glucose-induced lipid accumulation in HepG2 cells and metformin intervention. Zhang Y, et al. Life Sci, 2017 Mar 15. PMID 28174122

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of SIK1 in tumors: Emerging players and therapeutic potentials (Review).
      Title: Role of SIK1 in tumors: Emerging players and therapeutic potentials (Review).
    2. Integrated bioinformatics analyses identifying potential biomarkers for type 2 diabetes mellitus and breast cancer: In SIK1-ness and health.
      Title: Integrated bioinformatics analyses identifying potential biomarkers for type 2 diabetes mellitus and breast cancer: In SIK1-ness and health.
    3. Down-Regulation and Clinic-Pathological Correlation of SIK-1 and SIL-1-LNC in Non-Small Cell Lung Cancer Patients.
      Title: Down-regulation and Clinic-pathological Correlation of SIK-1 and SIK-1-LNC in Non-small Cell Lung Cancer Patients.
    4. Exosomal microRNA-25 released from cancer cells targets SIK1 to promote hepatocellular carcinoma tumorigenesis.
      Title: Exosomal microRNA-25 released from cancer cells targets SIK1 to promote hepatocellular carcinoma tumorigenesis.
    5. Circ_0078607 inhibits the progression of ovarian cancer via regulating the miR-32-5p/SIK1 network.
      Title: Circ_0078607 inhibits the progression of ovarian cancer via regulating the miR-32-5p/SIK1 network.
    6. Role of SIK1 in the transition of acute kidney injury into chronic kidney disease.
      Title: Role of SIK1 in the transition of acute kidney injury into chronic kidney disease.
    7. SIK1 Regulates CRTC2-Mediated Gluconeogenesis Signaling Pathway in Human and Mouse Liver Cells.
      Title: SIK1 Regulates CRTC2-Mediated Gluconeogenesis Signaling Pathway in Human and Mouse Liver Cells.
    8. Exosomal miR-130b-3p targets SIK1 to inhibit medulloblastoma tumorigenesis.
      Title: Exosomal miR-130b-3p targets SIK1 to inhibit medulloblastoma tumorigenesis.
    9. Sodium Channel Nav1.5 Controls Epithelial-to-Mesenchymal Transition and Invasiveness in Breast Cancer Cells Through its Regulation by the Salt-Inducible Kinase-1.
      Title: Sodium Channel Na(v)1.5 Controls Epithelial-to-Mesenchymal Transition and Invasiveness in Breast Cancer Cells Through its Regulation by the Salt-Inducible Kinase-1.
    10. An LKB1-SIK Axis Suppresses Lung Tumor Growth and Controls Differentiation.
      Title: An LKB1-SIK Axis Suppresses Lung Tumor Growth and Controls Differentiation.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 30
    MedGen: C4225360 OMIM: 616341 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of salt-inducible kinase 1 (SIK1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 14-3-3 protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables cAMP response element binding protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone deacetylase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables magnesium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anoikis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cardiac muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in entrainment of circadian clock by photoperiod ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of CREB transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of gluconeogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of triglyceride biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of anoikis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of myotube differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of sodium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine/threonine-protein kinase SIK1
    Names
    Probable serine/threonine-protein kinase SIK1B
    SNF1-like kinase
    Salt-inducible kinase 1B
    myocardial SNF1-like kinase
    salt-inducible protein kinase 1
    serine/threonine-protein kinase SNF1-like kinase 1
    serine/threonine-protein kinase SNF1LK
    NP_775490.2
    XP_011527776.1
    XP_054180338.1
    XP_054180339.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052009.1 RefSeqGene

      Range
      5002..17650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173354.5 → NP_775490.2  serine/threonine-protein kinase SIK1

      See identical proteins and their annotated locations for NP_775490.2

      Status: REVIEWED

      Source sequence(s)
      AB047786, AP001046, HY008464
      Consensus CDS
      CCDS33575.1
      UniProtKB/Swiss-Prot
      A6NC84, P57059, Q5R2V5, Q6ZNL8, Q86YJ2
      Related
      ENSP00000270162.6, ENST00000270162.8
      Conserved Domains (3) summary
      smart00220
      Location:27 → 278
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14408
      Location:300 → 349
      UBA_SIK1; UBA domain found in salt-inducible kinase 1 (SIK1)
      cd14071
      Location:26 → 278
      STKc_SIK; Catalytic domain of the Serine/Threonine Kinases, Salt-Inducible kinases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      43414483..43427131 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529474.3 → XP_011527776.1  serine/threonine-protein kinase SIK1 isoform X1

      Conserved Domains (2) summary
      smart00220
      Location:27 → 278
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14071
      Location:26 → 278
      STKc_SIK; Catalytic domain of the Serine/Threonine Kinases, Salt-Inducible kinases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      41769738..41782385 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324363.1 → XP_054180338.1  serine/threonine-protein kinase SIK1 isoform X1

    2. XM_054324364.1 → XP_054180339.1  serine/threonine-protein kinase SIK1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P57059.2 GenPept UniProtKB/Swiss-Prot:P57059

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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