Human Gene YWHAQ (ENST00000238081.8_7) from GENCODE V47lift37
  Description: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta (from RefSeq NM_006826.4)
Gencode Transcript: ENST00000238081.8_7
Gencode Gene: ENSG00000134308.14_13
Transcript (Including UTRs)
   Position: hg19 chr2:9,724,096-9,771,126 Size: 47,031 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr2:9,725,415-9,770,581 Size: 45,167 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:9,724,096-9,771,126)mRNA (may differ from genome)Protein (245 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: 1433T_HUMAN
DESCRIPTION: RecName: Full=14-3-3 protein theta; AltName: Full=14-3-3 protein T-cell; AltName: Full=14-3-3 protein tau; AltName: Full=Protein HS1;
FUNCTION: Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1.
SUBUNIT: Homodimer. Interacts with CDK16 (By similarity). Interacts with SSH1. Interacts with CDKN1B ('Thr-198' phosphorylated form); the interaction translocates CDKN1B to the cytoplasm. Interacts with GAB2. Interacts with the 'Ser-241' phosphorylated form of PDPK1.
INTERACTION: Q9P0K1-3:ADAM22; NbExp=2; IntAct=EBI-359854, EBI-1567267; P49407:ARRB1; NbExp=3; IntAct=EBI-359854, EBI-743313; P32121:ARRB2; NbExp=3; IntAct=EBI-359854, EBI-714559; O94921:CDK14; NbExp=3; IntAct=EBI-359854, EBI-1043945; P00533:EGFR; NbExp=4; IntAct=EBI-359854, EBI-297353; P23945:FSHR; NbExp=3; IntAct=EBI-359854, EBI-848239; Q14678:KANK1; NbExp=2; IntAct=EBI-359854, EBI-2556221; Q14678-2:KANK1; NbExp=3; IntAct=EBI-359854, EBI-6173812;
SUBCELLULAR LOCATION: Cytoplasm. Note=In neurons, axonally transported to the nerve terminals.
TISSUE SPECIFICITY: Abundantly expressed in brain, heart and pancreas, and at lower levels in kidney and placenta. Up-regulated in the lumbar spinal cord from patients with sporadic amyotrophic lateral sclerosis (ALS) compared with controls, with highest levels of expression in individuals with predominant lower motor neuron involvement.
PTM: Ser-232 is probably phosphorylated by CK1.
SIMILARITY: Belongs to the 14-3-3 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: YWHAQ
Diseases sorted by gene-association score: lateral sclerosis (5), ideomotor apraxia (1), dementia, frontotemporal (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 163.07 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 4418.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.40139-0.391 Picture PostScript Text
3' UTR -301.101319-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000308 - 14-3-3
IPR023409 - 14-3-3_CS
IPR023410 - 14-3-3_domain

Pfam Domains:
PF00244 - 14-3-3 protein

SCOP Domains:
48445 - 14-3-3 protein

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2BTP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P27348
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0042802 identical protein binding
GO:0047485 protein N-terminus binding

Biological Process:
GO:0021762 substantia nigra development
GO:0045892 negative regulation of transcription, DNA-templated
GO:0061024 membrane organization
GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0032991 macromolecular complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC050601 - Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide, mRNA (cDNA clone MGC:60050 IMAGE:6501365), complete cds.
JD082253 - Sequence 63277 from Patent EP1572962.
JD165969 - Sequence 146993 from Patent EP1572962.
JD321391 - Sequence 302415 from Patent EP1572962.
AF070556 - Homo sapiens clone 24409 14.3.3 protein mRNA, partial cds.
X57347 - H.sapiens mRNA for HS1 protein.
BC056867 - Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide, mRNA (cDNA clone MGC:64844 IMAGE:6164592), complete cds.
JD503433 - Sequence 484457 from Patent EP1572962.
X56468 - Human mRNA for 14.3.3 protein, a protein kinase regulator.
DQ580385 - Homo sapiens piRNA piR-48497, complete sequence.
JD554369 - Sequence 535393 from Patent EP1572962.
JD301972 - Sequence 282996 from Patent EP1572962.
JD303099 - Sequence 284123 from Patent EP1572962.
AK309462 - Homo sapiens cDNA, FLJ99503.
BC093019 - Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide, mRNA (cDNA clone MGC:110899 IMAGE:30520472), complete cds.
JD166618 - Sequence 147642 from Patent EP1572962.
JD021906 - Sequence 2930 from Patent EP1572962.
JD025440 - Sequence 6464 from Patent EP1572962.
AK302208 - Homo sapiens cDNA FLJ51144 complete cds, highly similar to 14-3-3 protein theta.
JD351134 - Sequence 332158 from Patent EP1572962.
JD031659 - Sequence 12683 from Patent EP1572962.
JD433930 - Sequence 414954 from Patent EP1572962.
JD519975 - Sequence 500999 from Patent EP1572962.
LF353260 - JP 2014500723-A/160763: Polycomb-Associated Non-Coding RNAs.
JD529065 - Sequence 510089 from Patent EP1572962.
AK297624 - Homo sapiens cDNA FLJ52118 complete cds, highly similar to 14-3-3 protein theta.
AK316158 - Homo sapiens cDNA, FLJ79057 complete cds, highly similar to 14-3-3 protein theta.
JD296194 - Sequence 277218 from Patent EP1572962.
JD073259 - Sequence 54283 from Patent EP1572962.
JD509706 - Sequence 490730 from Patent EP1572962.
JD041901 - Sequence 22925 from Patent EP1572962.
JD113512 - Sequence 94536 from Patent EP1572962.
JD318487 - Sequence 299511 from Patent EP1572962.
JD142017 - Sequence 123041 from Patent EP1572962.
AM393330 - Synthetic construct Homo sapiens clone IMAGE:100002701 for hypothetical protein (YWHAQ gene).
AM393338 - Synthetic construct Homo sapiens clone IMAGE:100002948 for hypothetical protein (YWHAQ gene).
AM393358 - Synthetic construct Homo sapiens clone IMAGE:100002949 for hypothetical protein (YWHAQ gene).
AM393674 - Synthetic construct Homo sapiens clone IMAGE:100002702 for hypothetical protein (YWHAQ gene).
BT020014 - Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide mRNA, complete cds.
CU691168 - Synthetic construct Homo sapiens gateway clone IMAGE:100021635 5' read YWHAQ mRNA.
KJ893185 - Synthetic construct Homo sapiens clone ccsbBroadEn_02579 YWHAQ gene, encodes complete protein.
AB464331 - Synthetic construct DNA, clone: pF1KB8176, Homo sapiens YWHAQ gene for tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide, without stop codon, in Flexi system.
JD025630 - Sequence 6654 from Patent EP1572962.
JD029205 - Sequence 10229 from Patent EP1572962.
LF353263 - JP 2014500723-A/160766: Polycomb-Associated Non-Coding RNAs.
JD031267 - Sequence 12291 from Patent EP1572962.
JD024134 - Sequence 5158 from Patent EP1572962.
JD461537 - Sequence 442561 from Patent EP1572962.
MA588837 - JP 2018138019-A/160763: Polycomb-Associated Non-Coding RNAs.
MA588840 - JP 2018138019-A/160766: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_g2Pathway - Cell Cycle: G2/M Checkpoint

Reactome (by CSHL, EBI, and GO)

Protein P27348 (Reactome details) participates in the following event(s):

R-HSA-75016 Association of p-S216-CDC25C with 14-3-3 proteins
R-HSA-139899 Sequestration of BAD protein by 14-3-3
R-HSA-1445149 14-3-3 binds p-5S,T642-AS160 (TBC1D4)
R-HSA-1454689 14-3-3 Binds p-S237-TBC1D1
R-HSA-5632732 p-S939,T1462-TSC2 binding to 14-3-3 dimer is negatively regulated by DDIT4
R-HSA-5632738 DDIT4 binds 14-3-3 dimer
R-HSA-139906 Activation of BAD by calcineurin
R-HSA-75035 Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
R-HSA-5625740 RHO GTPases activate PKNs
R-HSA-111447 Activation of BAD and translocation to mitochondria
R-HSA-1445148 Translocation of GLUT4 to the plasma membrane
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-69473 G2/M DNA damage checkpoint
R-HSA-195258 RHO GTPase Effectors
R-HSA-114452 Activation of BH3-only proteins
R-HSA-199991 Membrane Trafficking
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-69481 G2/M Checkpoints
R-HSA-194315 Signaling by Rho GTPases
R-HSA-109606 Intrinsic Pathway for Apoptosis
R-HSA-5653656 Vesicle-mediated transport
R-HSA-212436 Generic Transcription Pathway
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-162582 Signal Transduction
R-HSA-109581 Apoptosis
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1640170 Cell Cycle
R-HSA-5357801 Programmed Cell Death
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: 1433T_HUMAN, D6W4Z5, ENST00000238081.1, ENST00000238081.2, ENST00000238081.3, ENST00000238081.4, ENST00000238081.5, ENST00000238081.6, ENST00000238081.7, NM_006826, P27348, Q567U5, Q5TZU8, Q9UP48, uc317edj.1, uc317edj.2
UCSC ID: ENST00000238081.8_7
RefSeq Accession: NM_006826.4
Protein: P27348 (aka 1433T_HUMAN or 143T_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.