YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma [Homo sapiens (human)] - Gene

Summary

Official Symbol: YWHAGprovided by HGNC
Official Full Name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gammaprovided by HGNC
Primary source: HGNC:HGNC:12852
See related: Ensembl:ENSG00000170027 MIM:605356; AllianceGenome:HGNC:12852
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: DEE56; EIEE56; PPP1R170; 14-3-3GAMMA
Summary: This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]
Expression: Broad expression in brain (RPKM 260.6), fat (RPKM 131.1) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (76326799..76358991, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (77614271..77646485, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (75956116..75988308, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

YWHAG promotes colorectal cancer progression by regulating the CTTN-Wnt/beta-catenin signaling axis.
Title: YWHAG promotes colorectal cancer progression by regulating the CTTN-Wnt/β-catenin signaling axis.
YWHAG Deficiency Disrupts the EMT-Associated Network to Induce Oxidative Cell Death and Prevent Metastasis.
Title: YWHAG Deficiency Disrupts the EMT-Associated Network to Induce Oxidative Cell Death and Prevent Metastasis.
A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family.
Title: A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family.
Myoclonic epilepsy of infancy related to YWHAG gene mutation: towards a better phenotypic characterization.
Title: Myoclonic epilepsy of infancy related to YWHAG gene mutation: towards a better phenotypic characterization.
Long non-coding RNA NORAD protects against cerebral ischemia/reperfusion injury induced brain damage, cell apoptosis, oxidative stress and inflammation by regulating miR-30a-5p/YWHAG.
Title: Long non-coding RNA NORAD protects against cerebral ischemia/reperfusion injury induced brain damage, cell apoptosis, oxidative stress and inflammation by regulating miR-30a-5p/YWHAG.
Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
Title: Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
14-3-3 proteins inactivate DAPK2 by promoting its dimerization and protecting key regulatory phosphosites.
Title: 14-3-3 proteins inactivate DAPK2 by promoting its dimerization and protecting key regulatory phosphosites.
The 14-3-3/SLP76 protein-protein interaction in T-cell receptor signalling: a structural and biophysical characterization.
Title: The 14-3-3/SLP76 protein-protein interaction in T-cell receptor signalling: a structural and biophysical characterization.
Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature.
Title: Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature.
14-3-3gamma prevents centrosome duplication by inhibiting NPM1 function.
Title: 14-3-3γ prevents centrosome duplication by inhibiting NPM1 function.

Submit: New GeneRIF Correction See all GeneRIFs (86)

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, 56 MedGen: C4540034 OMIM: 617665 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of severity in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

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
Tat	tat	Expression of HIV-1 Tat downregulates the abundance of tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG, 14-3-3 gamma) in the nucleoli of Jurkat T-cells	PubMed
Vpr	vpr	HIV-1 Vpr inhibits the binding of 14-3-3 gamma and AID to Smu and Sgamma1 DNA regions	PubMed
	vpr	HIV-1 Vpr inhibits insulin-induced association of 14-3-3 and Foxo3a in HeLa cells	PubMed
	vpr	Interaction of HIV-1 Vpr with human 14-3-3 protein is presumed based on homology to yeast DNA damage checkpoint protein rad25 which enhances HIV-1 Vpr-induced G2 arrest in vitro, most likely through the inhibition of Cdc25	PubMed
integrase	gag-pol	HIV-1 IN is identified to have a physical interaction with 14-3-3 gamma (YWHAG) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S551E (e-PCR)
- UniSTS:20499

D7S2057E (e-PCR)
- UniSTS:151115

A002D37 (e-PCR)
- UniSTS:51041

G19981 (e-PCR)
- UniSTS:62820

GDB:1317208 (e-PCR)
- UniSTS:56784

RH12457 (e-PCR)
- UniSTS:78291

1138 (e-PCR)
- UniSTS:26350

D7S1878E (e-PCR)
- UniSTS:473333

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables insulin-like growth factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphorylation-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein kinase C binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase C binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase C inhibitor activity	NAS Non-traceable Author Statement more info	PubMed
enables protein sequestering activity	IDA Inferred from Direct Assay more info	PubMed
enables receptor tyrosine kinase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to glucose starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein kinase activity	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell mediated immune response to tumor cell	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein targeting	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of synaptic plasticity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 14-3-3 protein gamma

Names: KCIP-1; protein kinase C inhibitor protein 1; protein phosphatase 1, regulatory subunit 170; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide

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.