Human Gene YWHAQ (ENST00000238081.8_6) from GENCODE V45lift37 (2024)

Human Gene YWHAQ (ENST00000238081.8_6) from GENCODE V45lift37

Description: hom*o sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta (YWHAQ), mRNA. (from RefSeq NM_006826)
RefSeq Summary (NM_006826): 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].
Gencode Transcript: ENST00000238081.8_6
Gencode Gene: ENSG00000134308.14_11
Transcript (Including UTRs)
Position:hg19 chr2:9,724,096-9,771,126Size:47,031Total Exon Count:6Strand:-
Coding Region
Position:hg19 chr2:9,725,415-9,770,581Size:45,167Coding Exon Count:5

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC:2024-04-24 11:59:55

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 Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
GeneNetwork	HGNC	Malacards	MGI	OMIM	PubMed
Reactome	UniProtKB	Wikipedia	BioGrid 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

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.
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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 D004997Ethinyl Estradiol C006253pirinixic acid C0493251,2-dithiol-3-thione C0297902,2',3',4,4',5-hexachlorobiphenyl C0235142,6-dinitrotoluene D000643Ammonium Chloride D001241Aspirin D001554Benzene D001564Benzo(a)pyrene D002101Cacodylic Acid more ... click here to view the complete list

Common Gene Haplotype Alleles


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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 BrowserView at GTEx portalView GTEx Body Map

Highest median expression: 163.07 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 4418.53 RPKM

View in GTEx track of Genome BrowserView at GTEx portalView GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-54.40	139	-0.391	Picture	PostScript	Text
3' UTR	-301.10	1319	-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


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog

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

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, hom*o 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)

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 UCSC ID: ENST00000238081.8_6 RefSeq Accession: NM_006826 Protein: P27348 (aka 1433T_HUMAN or 143T_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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