GSK3A glycogen synthase kinase 3 alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: GSK3Aprovided by HGNC
Official Full Name: glycogen synthase kinase 3 alphaprovided by HGNC
Primary source: HGNC:HGNC:4616
See related: Ensembl:ENSG00000105723 MIM:606784
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011]
Expression: Ubiquitous expression in brain (RPKM 26.3), testis (RPKM 18.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	19	NC_000019.10 (42230186..42243330, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (42734342..42746754, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of GSK3 in metabolic pathway perturbations in cancer.
Title: The role of GSK3 in metabolic pathway perturbations in cancer.
Opposing Roles of GSK3alpha and GSK3beta Phosphorylation in Platelet Function and Thrombosis.
Title: Opposing Roles of GSK3α and GSK3β Phosphorylation in Platelet Function and Thrombosis.
When Good Kinases Go Rogue: GSK3, p38 MAPK and CDKs as Therapeutic Targets for Alzheimer's and Huntington's Disease.
Title: When Good Kinases Go Rogue: GSK3, p38 MAPK and CDKs as Therapeutic Targets for Alzheimer's and Huntington's Disease.
The DISC1 R264Q variant increases affinity for the dopamine D2 receptor and increases GSK3 activity.
Title: The DISC1 R264Q variant increases affinity for the dopamine D2 receptor and increases GSK3 activity.
Glycogen synthase kinase (GSK) 3 in pregnancy and parturition: a systematic review of literature.
Title: Glycogen synthase kinase (GSK) 3 in pregnancy and parturition: a systematic review of literature.
GSK-3 is an RNA polymerase II phospho-CTD kinase.
Title: GSK-3 is an RNA polymerase II phospho-CTD kinase.
Diabetic patients showed a reduction in the ratio of Ser21-phosphorylated versus total GSK-3alpha, indicating enhanced GSK-3alpha activity in the presence of diabetes in human failing hearts.
Title: Glycogen Synthase Kinase-3α Promotes Fatty Acid Uptake and Lipotoxic Cardiomyopathy.
Single-cell transcriptome profiling revealed a direct impact on early neurogenesis and uncovered a selective role of GSK3 in the regulation of glutamatergic lineages and outer radial glia output.
Title: Human Cortical Organoids Expose a Differential Function of GSK3 on Cortical Neurogenesis.
Isoform-specific GSK3A activity is negatively correlated with human sperm motility.
Title: Isoform-specific GSK3A activity is negatively correlated with human sperm motility.
Hepatic expression of Akt (Thr308), GSK3beta (Ser9), and GSK3alpha (Ser21) did not correspond to progression of chronic hepatitis C to liver steatosis.
Title: Hepatic Expression of Phosphorylated Kinase Akt and Glycogen Synthase Kinase-3 Isoforms in Patients with Chronic Hepatitis C.

Submit: New GeneRIF Correction See all GeneRIFs (93)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Incubation of human macrophages with exogenous HIV-1 Nef protein induces phosphorylation of Akt and GSK-3ss, and promotes IL-10 release	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

RH78012 (e-PCR)
- UniSTS:7453

D19S656E (e-PCR)
- UniSTS:150570

D19S688E (e-PCR)
- UniSTS:150587

MARC_17709-17710:1031755211:1 (e-PCR)
- UniSTS:268383

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-32066 (e-PCR)
- UniSTS:39032

RH11670 (e-PCR)
- UniSTS:39033

STS-T55612 (e-PCR)
- UniSTS:64144

RH45593 (e-PCR)
- UniSTS:42969

Homology

Homologs of the GSK3A gene: The GSK3A gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 196 organisms have orthologs with human gene GSK3A
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A catalytic subunit 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	PubMed
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info
enables protein serine/threonine/tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables tau protein binding	NAS Non-traceable Author Statement more info	PubMed
enables tau-protein kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables tau-protein kinase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cardiac left ventricle morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to insulin stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to interleukin-3	ISS Inferred from Sequence or Structural Similarity more info
involved_in dopamine receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in excitatory postsynaptic potential	NAS Non-traceable Author Statement more info	PubMed
involved_in extrinsic apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in extrinsic apoptotic signaling pathway in absence of ligand	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycogen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in insulin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in insulin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of TOR signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of TOR signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of UDP-glucose catabolic process	IC Inferred by Curator more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cell growth involved in cardiac muscle cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of glucose import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of glycogen (starch) synthase activity	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of glycogen biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of glycogen synthase activity, transferring glucose-1-phosphate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of insulin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of type B pancreatic cell development	TAS Traceable Author Statement more info	PubMed
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-threonine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of adenylate cyclase-activating adrenergic receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of amyloid-beta formation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of autophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of glycogen (starch) synthase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of protein targeting to mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of autophagy of mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neuron projection development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of systemic arterial blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in viral protein processing	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in apical dendrite	NAS Non-traceable Author Statement more info	PubMed
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of beta-catenin destruction complex	NAS Non-traceable Author Statement more info	PubMed
part_of beta-catenin destruction complex	TAS Traceable Author Statement more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	NAS Non-traceable Author Statement more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in proximal dendrite	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: glycogen synthase kinase-3 alpha

Names: GSK-3 alpha; serine/threonine-protein kinase GSK3A

NP_063937.2

EC 2.7.11.1

EC 2.7.11.26

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.

mRNA and Protein(s)

NM_019884.3 → NP_063937.2 glycogen synthase kinase-3 alpha

See identical proteins and their annotated locations for NP_063937.2

Status: VALIDATED

Source sequence(s)

AC006486, BC027984, D63424, L40027

Consensus CDS

CCDS12599.1

UniProtKB/Swiss-Prot

P49840

UniProtKB/TrEMBL

A0A024R0L5

Related

ENSP00000222330.3, ENST00000222330.8

Conserved Domains (2) summary

cd14137
Location:114 → 406

STKc_GSK3; The catalytic domain of the Serine/Threonine Kinase, Glycogen Synthase Kinase 3

pfam00069
Location:119 → 403

Pkinase; Protein kinase domain