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

Gene ID: 7533, updated on 3-Nov-2024

Summary

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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

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See YWHAH in Genome Data Viewer
Location:
22q12.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31944535..31957603)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32408656..32421713)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32340521..32353590)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene DEP domain containing 5, GATOR1 subcomplex subunit Neighboring gene transcription and mRNA export factor ENY2-like Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:32287252-32287786 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32308155-32308654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32312956-32313456 Neighboring gene uncharacterized LOC105372998 Neighboring gene MPRA-validated peak4483 silencer Neighboring gene uncharacterized LOC124905102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32338983-32339840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32339841-32340698 Neighboring gene YWHAH antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13642 Neighboring gene uncharacterized LOC124900477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18873 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18874 Neighboring gene long intergenic non-protein coding RNA 2558 Neighboring gene origin of replication NOA3 Neighboring gene RNA, 7SL, cytoplasmic 305, pseudogene Neighboring gene ribosomal protein S17 pseudogene 16

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Family-based association of YWHAH in psychotic bipolar disorder. Grover D, et al. Am J Med Genet B Neuropsychiatr Genet, 2009 Oct 5. PMID 19160447, Free PMC Article
  2. The significance of serum 14-3-3η level in rheumatoid arthritis patients. Hussin DAAH, et al. Clin Rheumatol, 2021 Jun. PMID 33400046
  3. 14-3-3η Protein in Rheumatoid Arthritis: Promising Diagnostic Marker and Independent Risk Factor for Osteoporosis. Zeng T, et al. Lab Med, 2020 Sep 1. PMID 32080735
  4. Evaluation of Serum Protein 14-3-3η (Eta) as a Novel Biomarker for Rheumatoid Arthritis. El-Sherif WT, et al. Egypt J Immunol, 2019 Jan. PMID 31333006
  5. 14-3-3η protein: a promising biomarker for rheumatoid arthritis. Zeng T, et al. Biomark Med, 2018 Aug. PMID 30022679

See all (320) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Temporal regulation of MDA5 inactivation by Caspase-3 dependent cleavage of 14-3-3eta.
    Title: Temporal regulation of MDA5 inactivation by Caspase-3 dependent cleavage of 14-3-3η.
  2. GREM1 Negatively Regulates Osteo-/Dentinogenic Differentiation of Dental Pulp Stem Cells via Association with YWHAH.
    Title: GREM1 Negatively Regulates Osteo-/Dentinogenic Differentiation of Dental Pulp Stem Cells via Association with YWHAH.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (37)

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)

Genotypes

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

Pathways from PubChem

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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

Homology

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 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 nuclear receptor-mediated glucocorticoid signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
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 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 PubMed 
located_in intercalated disc IC
Inferred by Curator
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
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.

mRNA and Protein(s)

  1. NM_003405.4 → NP_003396.1  14-3-3 protein eta

    See identical proteins and their annotated locations for NP_003396.1

    Status: REVIEWED

    Source sequence(s)
    AY007132, BC003047, Z82248
    Consensus CDS
    CCDS13901.1
    UniProtKB/Swiss-Prot
    Q04917
    UniProtKB/TrEMBL
    B2R6N6
    Related
    ENSP00000248975.5, ENST00000248975.6
    Conserved Domains (1) summary
    cd10025
    Location:3 → 241
    14-3-3_eta; 14-3-3 eta, an isoform of 14-3-3 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    31944535..31957603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    32408656..32421713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q04917.4 GenPept UniProtKB/Swiss-Prot:Q04917

Gene LinkOut

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