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

Summary

Official Symbol: YWHAHprovided by HGNC
Official Full Name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein etaprovided by HGNC
Primary source: HGNC:HGNC:12853
See related: Ensembl:ENSG00000128245 MIM:113508; AllianceGenome:HGNC:12853
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: YWHA1
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, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]
Expression: Broad expression in brain (RPKM 343.5), lung (RPKM 62.6) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (31944535..31957603)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (32408656..32421713)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (32340521..32353590)

Chromosome 22 - NC_000022.11 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?

14-3-3-eta interacts with BCL-2 to protect human endothelial progenitor cells from ox-LDL-triggered damage.
Title: 14-3-3-η interacts with BCL-2 to protect human endothelial progenitor cells from ox-LDL-triggered damage.
Mir-142-3P regulates MAPK protein family by inhibiting 14-3-3eta to enhance bone marrow mesenchymal stem cells osteogenesis.
Title: Mir-142-3P regulates MAPK protein family by inhibiting 14-3-3η to enhance bone marrow mesenchymal stem cells osteogenesis.
YWHAH Genetic Variants are Associated with Increased Hypoxia Inducible Factor-1alpha/Vascular Endothelial Growth Factor in Egyptian Rheumatoid Arthritis Patients.
Title: YWHAH Genetic Variants are Associated with Increased Hypoxia Inducible Factor-1α/Vascular Endothelial Growth Factor in Egyptian Rheumatoid Arthritis Patients.
Circ_0000144 acts as a miR-1178-3p decoy to promote cell malignancy and angiogenesis by increasing YWHAH expression in papillary thyroid cancer.
Title: Circ_0000144 acts as a miR-1178-3p decoy to promote cell malignancy and angiogenesis by increasing YWHAH expression in papillary thyroid cancer.
Genomics Links Inflammation With Neurocognitive Impairment in Children Living With Human Immunodeficiency Virus Type-1.
Title: Genomics Links Inflammation With Neurocognitive Impairment in Children Living With Human Immunodeficiency Virus Type-1.
The significance of serum 14-3-3eta level in rheumatoid arthritis patients.
Title: The significance of serum 14-3-3η level in rheumatoid arthritis patients.
14-3-3eta Protein in Rheumatoid Arthritis: Promising Diagnostic Marker and Independent Risk Factor for Osteoporosis.
Title: 14-3-3η Protein in Rheumatoid Arthritis: Promising Diagnostic Marker and Independent Risk Factor for Osteoporosis.
MiR-660-5p promotes the progression of hepatocellular carcinoma by interaction with YWHAH via PI3K/Akt signaling pathway.
Title: MiR-660-5p promotes the progression of hepatocellular carcinoma by interaction with YWHAH via PI3K/Akt signaling pathway.
NACHO and 14-3-3 promote expression of distinct subunit stoichiometries of the alpha4beta2 acetylcholine receptor.
Title: NACHO and 14-3-3 promote expression of distinct subunit stoichiometries of the α4β2 acetylcholine receptor.
Proteomic and Interactome Approaches Reveal PAK4, PHB-2, and 14-3-3eta as Targets of Overactivated Cdc42 in Cellular Responses to Genomic Instability.
Title: Proteomic and Interactome Approaches Reveal PAK4, PHB-2, and 14-3-3η as Targets of Overactivated Cdc42 in Cellular Responses to Genomic Instability.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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
Vpr	vpr	HIV-1 Vpr inhibits insulin-induced association of 14-3-3 and Foxo3a in HeLa cells	PubMed
	vpr	HIV-1 Vpr forms a triple complex with 14-3-3 eta and Cdc25C and thereby promotes cell cycle arrest at the G(2)/M phase by facilitating association of 14-3-3 and Cdc25C	PubMed
	vpr	Yeast two-hybrid assays show that HIV-1 Vpr binds strongly to 14-3-3 eta amino acids 141 to 244; the smallest 14-3-3 eta fragment (residues 190-210) also supports this binding, and amino acid mutation R80A in Vpr abolishes the binding to 14-3-3 eta	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

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

SHGC-37700 (e-PCR)
- UniSTS:23313

ECD05416 (e-PCR)
- UniSTS:286482

ECD04644 (e-PCR)
- UniSTS:285715

ECD16224 (e-PCR)
- UniSTS:297239

WI-15366 (e-PCR)
- UniSTS:48152

ECD15973 (e-PCR)
- UniSTS:296988

ECD04916 (e-PCR)
- UniSTS:285986

REN75882 (e-PCR)
- UniSTS:400682

ECD03373 (e-PCR)
- UniSTS:284458

REN75883 (e-PCR)
- UniSTS:400683

ECD20352 (e-PCR)
- UniSTS:301355

REN75884 (e-PCR)
- UniSTS:400684

ECD12643 (e-PCR)
- UniSTS:293676

REN75885 (e-PCR)
- UniSTS:400685

REN75886 (e-PCR)
- UniSTS:400686

REN75887 (e-PCR)
- UniSTS:400687

REN75888 (e-PCR)
- UniSTS:400688

REN75889 (e-PCR)
- UniSTS:400689

REN75890 (e-PCR)
- UniSTS:400690

REN75891 (e-PCR)
- UniSTS:400691

REN75892 (e-PCR)
- UniSTS:400692

REN75893 (e-PCR)
- UniSTS:400693

REN75894 (e-PCR)
- UniSTS:400694

REN75895 (e-PCR)
- UniSTS:400695

REN75896 (e-PCR)
- UniSTS:400696

REN75897 (e-PCR)
- UniSTS:400697

REN75898 (e-PCR)
- UniSTS:400698

REN75899 (e-PCR)
- UniSTS:400699

REN75900 (e-PCR)
- UniSTS:400700

REN75901 (e-PCR)
- UniSTS:400701

REN75902 (e-PCR)
- UniSTS:400702

REN75903 (e-PCR)
- UniSTS:400703

ECD18316 (e-PCR)
- UniSTS:299327

REN75904 (e-PCR)
- UniSTS:400704

REN75905 (e-PCR)
- UniSTS:400705

REN75906 (e-PCR)
- UniSTS:400706

REN75907 (e-PCR)
- UniSTS:400707

REN75908 (e-PCR)
- UniSTS:400708

REN75909 (e-PCR)
- UniSTS:400709

REN75910 (e-PCR)
- UniSTS:400710

REN75911 (e-PCR)
- UniSTS:400711

REN75912 (e-PCR)
- UniSTS:400712

ECD08304 (e-PCR)
- UniSTS:289352

REN75913 (e-PCR)
- UniSTS:400713

REN75914 (e-PCR)
- UniSTS:400714

REN75915 (e-PCR)
- UniSTS:400715

REN75916 (e-PCR)
- UniSTS:400716

REN75917 (e-PCR)
- UniSTS:400717

REN75918 (e-PCR)
- UniSTS:400718

REN75919 (e-PCR)
- UniSTS:400719

REN75920 (e-PCR)
- UniSTS:400720

REN75921 (e-PCR)
- UniSTS:400721

REN75922 (e-PCR)
- UniSTS:400722

REN75923 (e-PCR)
- UniSTS:400723

REN75924 (e-PCR)
- UniSTS:400724

REN75925 (e-PCR)
- UniSTS:400725

REN75926 (e-PCR)
- UniSTS:400726

REN75927 (e-PCR)
- UniSTS:400727

REN75928 (e-PCR)
- UniSTS:400728

REN75929 (e-PCR)
- UniSTS:400729

REN75930 (e-PCR)
- UniSTS:400730

REN75931 (e-PCR)
- UniSTS:400731

REN75932 (e-PCR)
- UniSTS:400732

REN75933 (e-PCR)
- UniSTS:400733

REN75934 (e-PCR)
- UniSTS:400734

REN75935 (e-PCR)
- UniSTS:400735

REN75936 (e-PCR)
- UniSTS:400736

REN75937 (e-PCR)
- UniSTS:400737

REN75938 (e-PCR)
- UniSTS:400738

REN75939 (e-PCR)
- UniSTS:400739

REN75940 (e-PCR)
- UniSTS:400740

REN75941 (e-PCR)
- UniSTS:400741

REN75942 (e-PCR)
- UniSTS:400742

REN75943 (e-PCR)
- UniSTS:400743

REN75944 (e-PCR)
- UniSTS:400744

REN75945 (e-PCR)
- UniSTS:400745

REN75946 (e-PCR)
- UniSTS:400746

ECD04212 (e-PCR)
- UniSTS:285290

REN75947 (e-PCR)
- UniSTS:400747

SHGC-4185 (e-PCR)
- UniSTS:39278

YWHAH_1118 (e-PCR)
- UniSTS:277871

ECD03463 (e-PCR)
- UniSTS:284545

ECD16626 (e-PCR)
- UniSTS:297641

RH18134 (e-PCR)
- UniSTS:28361

ECD04571 (e-PCR)
- UniSTS:285643

GDB:452620 (e-PCR)
- UniSTS:157394

ECD00980 (e-PCR)
- UniSTS:282089

ECD21582 (e-PCR)
- UniSTS:302577

ECD04365 (e-PCR)
- UniSTS:285439

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables insulin-like growth factor receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables nuclear glucocorticoid receptor 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	ISS Inferred from Sequence or Structural Similarity more info
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables sodium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in glucocorticoid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glucocorticoid receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane depolarization during action potential	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of dendrite morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in presynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of sodium ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of sodium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
located_in cerebellar granule cell to Purkinje cell synapse	IEA Inferred from Electronic Annotation more info
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	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in intercalated disc	IC Inferred by Curator more info	PubMed
located_in plasma membrane	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 eta

Names: 14-3-3 eta; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta 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.