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

Summary

Official Symbol: YWHAQprovided by HGNC
Official Full Name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein thetaprovided by HGNC
Primary source: HGNC:HGNC:12854
See related: Ensembl:ENSG00000134308 MIM:609009; AllianceGenome:HGNC:12854
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: 1C5; HS1; 14-3-3
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 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 160.3), endometrium (RPKM 117.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p25.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (9583967..9630997, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (9609000..9656011, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (9724096..9771126, complement)

Chromosome 2 - NC_000002.12 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 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?

14-3-3 [Formula: see text]-reported early synaptic injury in Alzheimer's disease is independently mediated by sTREM2.
Title: 14-3-3 [Formula: see text]-reported early synaptic injury in Alzheimer's disease is independently mediated by sTREM2.
Crystal structure reveals canonical recognition of the phosphorylated cytoplasmic loop of human alpha7 nicotinic acetylcholine receptor by 14-3-3 protein.
Title: Crystal structure reveals canonical recognition of the phosphorylated cytoplasmic loop of human alpha7 nicotinic acetylcholine receptor by 14-3-3 protein.
A feedback circuit comprising EHD1 and 14-3-3zeta sustains beta-catenin/c-Myc-mediated aerobic glycolysis and proliferation in non-small cell lung cancer.
Title: A feedback circuit comprising EHD1 and 14-3-3ζ sustains β-catenin/c-Myc-mediated aerobic glycolysis and proliferation in non-small cell lung cancer.
Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
Title: Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
TNK1 is a ubiquitin-binding and 14-3-3-regulated kinase that can be targeted to block tumor growth.
Title: TNK1 is a ubiquitin-binding and 14-3-3-regulated kinase that can be targeted to block tumor growth.
STAT3 couples with 14-3-3sigma to regulate BCR signaling, B-cell differentiation, and IgE production.
Title: STAT3 couples with 14-3-3σ to regulate BCR signaling, B-cell differentiation, and IgE production.
14-3-3zeta mediates an alternative, non-thermogenic mechanism in male mice to reduce heat loss and improve cold tolerance.
Title: 14-3-3ζ mediates an alternative, non-thermogenic mechanism in male mice to reduce heat loss and improve cold tolerance.
Structural Insights into the Interaction Between CRTCs and 14-3-3.
Title: Structural Insights into the Interaction Between CRTCs and 14-3-3.
Hierarchized phosphotarget binding by the seven human 14-3-3 isoforms.
Title: Hierarchized phosphotarget binding by the seven human 14-3-3 isoforms.
Mutations in the phosphorylation sites of SARS-CoV-2 encoded nucleocapsid protein and structure model of sequestration by protein 14-3-3.
Title: Mutations in the phosphorylation sites of SARS-CoV-2 encoded nucleocapsid protein and structure model of sequestration by protein 14-3-3.

Submit: New GeneRIF Correction See all GeneRIFs (105)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs. 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
Envelope surface glycoprotein gp120	env	Treatment of cells with dsRNA against 14-3-3tau enhances gp120-mediated dephosphorylation of Bad and its association with Bcl-XL in mitochondria, and accelerates gp120-induced apoptosis	PubMed
	env	HIV-1 gp120 increases the expression of 14-3-3tau in cells. The binding of gp120 to CXCR4 induces cell apoptosis through decreased binding of 14-3-3tau to the pro-apoptotic molecule, Bad	PubMed
Vpr	vpr	Vpr-induced cell cycle G2/M arrest reveals a dramatic increase in the amount of Cdk1, Cdc25C, and CyclinB1 bound to 14-3-3 theta	PubMed
	vpr	HIV-1 Vpr inhibits insulin-induced association of 14-3-3 and Foxo3a in HeLa cells	PubMed
	vpr	Yeast two-hybrid assays show that the C-terminal half (residues 141-244) of 14-3-3 tau binds to HIV-1 Vpr; Vpr supports triple complex formation with 14-3-3 tau and Cdc25C	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

H05L03.2 (e-PCR)
- UniSTS:311318

NoName (e-PCR)
- UniSTS:5184

D10S2166 (e-PCR)
- UniSTS:2906

YWHAQ_1656 (e-PCR)
- UniSTS:277872

RH15607 (e-PCR)
- UniSTS:92785

RH126547 (e-PCR)
- UniSTS:208786

D22S1126 (e-PCR)
- UniSTS:89512

RH70237 (e-PCR)
- UniSTS:90561

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 14-3-3 protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction 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 transmembrane transporter binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
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 signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in small GTPase-mediated signal transduction	IEA Inferred from Electronic Annotation more info
involved_in substantia nigra development	HEP more info	PubMed

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 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
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 14-3-3 protein theta

Names: 14-3-3 protein T-cell; 14-3-3 protein tau; 14-3-3 theta; protein, theta; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta 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.