SIK1 - salt inducible kinase 1 Gene

Homo sapiens

Also known as MSK; SIK; DEE30; SIK-1; SIK1B; SNF1LK

Gene ID: 150094 | Gene type: protein coding

About SIK1

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:43,414,483-43,427,131 (from NCBI)

This gene has 6 transcripts (splice variants), 236 orthologues, 17 paralogues and is associated with 5 phenotypes. Ubiquitous expression in adrenal (RPKM 28.1), liver (RPKM 25.6) and 25 other tissues.

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]

SIK1 Products(2)

mRNA	Protein	Name
NM_173354.5	NP_775490.2	serine/threonine-protein kinase SIK1
XM_011529474.3	XP_011527776.1	serine/threonine-protein kinase SIK1 isoform X1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 14-3-3 protein binding	IDA IDA: Inferred from direct assay	18348280	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	14976552	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	14976552	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16306228	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	18348280	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	14976552	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in intracellular signal transduction	IDA IDA: Inferred from direct assay	14976552	GOA
involved in positive regulation of anoikis	IMP IMP: Inferred from mutant phenotype	19622832	GOA
involved in protein autophosphorylation	IDA IDA: Inferred from direct assay	18348280	GOA
involved in protein phosphorylation	IDA IDA: Inferred from direct assay	14976552	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	16306228	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16306228	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SIK1 Protein Structure

Pkinase

0
200
400
600
783 a.a.

Protein Preferred Names

Protein Names

serine/threonine-protein kinase SIK1

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

Related Diseases

Diseases

Alias

Speech And Communication Disorders

Language Disorder	Communication Disorder
Language Disorders	Communication Disorders
Speech Language Disorder	Speech-Language Disorder
Communication Impairment	Speech And Language Disorder

Developmental And Epileptic Encephalopathy 30

DEE30	Epileptic Encephalopathy, Early Infantile, 30
Eiee30	Developmental And Epileptic Encephalopathy, 30
Early Infantile Epileptic Encephalopathy 30	Encephalopathy, Epileptic, Early Infantile, Type 30

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Suppression Bursts	Early Infantile Epileptic Encephalopathy With Burst-Suppression
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15776	HG-9-91-01	Inhibitor	99.77%	Unkown
HY-101147	YKL-05-099	Inhibitor	99.76%	Unkown
HY-120877	MRT199665	Inhibitor	99.74%	Unkown
HY-120856	ARN-3236	Inhibitor	98.60%	Unkown
HY-157442	GLPG3312	Inhibitor	98.25%	Unkown
HY-139253	MRIA9	Inhibitor	98.80%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SIK1	RGD	RGD:69407
Mus musculus	SIK1	MGD	MGI:104754

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