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

    Gene ID: 7533, updated on 10-Dec-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
    • 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. 14-3-3 protein is a component of Lewy bodies in Parkinson's disease-mutation analysis and association studies of 14-3-3 eta. Ubl A, et al. Brain Res Mol Brain Res, 2002 Dec. PMID 12480176
    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 (321) 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)

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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