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

    Gene ID: 10971, updated on 10-Dec-2024

    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
    NEW
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    Genomic context

    See YWHAQ in Genome Data Viewer
    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_000002.12Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 17 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15279 Neighboring gene Sharpr-MPRA regulatory region 4047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11136 Neighboring gene Sharpr-MPRA regulatory region 1969 Neighboring gene uncharacterized LOC101929643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15280 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15282 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:9769712-9770614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11138 Neighboring gene uncharacterized LOC105373418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:9789200-9789709 Neighboring gene NANOG hESC enhancer GRCh37_chr2:9790441-9791022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15287 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:9796459-9796960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15288 Neighboring gene NANOG hESC enhancer GRCh37_chr2:9797816-9798376 Neighboring gene uncharacterized LOC105373419 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:9832275-9833074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15290 Neighboring gene RNA, U4 small nuclear 73, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (16 hits/1265 screens)

    EBI GWAS Catalog

    Description
    Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 14-3-3 protein binding  
    enables identical protein binding PubMed 
    enables protein binding PubMed 
    enables protein domain specific binding  
    enables transmembrane transporter binding  
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in extracellular exosome PubMed 
    located_in focal adhesion PubMed 
    located_in membrane PubMed 
    located_in nucleus PubMed 
    part_of protein-containing complex PubMed 
    located_in synapse  

    General protein information

    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)

    NEW Try the new Transcript table

    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_006826.4 → NP_006817.1  14-3-3 protein theta

      See identical proteins and their annotated locations for NP_006817.1

      Status: REVIEWED

      Source sequence(s)
      AA729400, BC050601, BC093019
      Consensus CDS
      CCDS1666.1
      UniProtKB/Swiss-Prot
      D6W4Z5, P27348, Q567U5, Q5TZU8, Q9UP48
      UniProtKB/TrEMBL
      B4DMT8
      Related
      ENSP00000238081.3, ENST00000238081.8
      Conserved Domains (1) summary
      cd10023
      Location:1 → 234
      14-3-3_theta; 14-3-3 theta/tau (theta in mice, tau in human), 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      9583967..9630997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      9609000..9656011 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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