Human Gene YWHAH (uc003alz.3) Description and Page Index
Description: Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide (YWHAH), mRNA. RefSeq Summary (NM_003405): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.310288.1, SRR3476690.534567.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248975.6/ ENSP00000248975.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr22:32,340,479-32,353,590 Size: 13,112 Total Exon Count: 2 Strand: + Coding Region Position: hg19 chr22:32,340,720-32,352,779 Size: 12,060 Coding Exon Count: 2
ID:1433F_HUMAN DESCRIPTION: RecName: Full=14-3-3 protein eta; AltName: Full=Protein AS1; 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 (By similarity). Interacts with many nuclear hormone receptors and cofactors including AR, ESR1, ESR2, MC2R, NR3C1, NRIP1, PPARBP and THRA. Interacts with ABL1 (phosphorylated form); the interaction retains it in the cytoplasm. Interacts with ARHGEF28 and CDK16 (By similarity). Weakly interacts with CDKN1B. Interacts with GAB2. Interacts with KCNK18 in a phosphorylation- dependent manner. Interacts with SAMSN1 (By similarity). Interacts with the 'Ser-241' phosphorylated form of PDPK1. INTERACTION: O94921:CDK14; NbExp=3; IntAct=EBI-306940, EBI-1043945; O60565:GREM1; NbExp=5; IntAct=EBI-306940, EBI-944395; Q14678-2:KANK1; NbExp=3; IntAct=EBI-306940, EBI-6173812; Q7KZI7:MARK2; NbExp=6; IntAct=EBI-306940, EBI-516560; P27448:MARK3; NbExp=4; IntAct=EBI-306940, EBI-707595; Q96L34:MARK4; NbExp=6; IntAct=EBI-306940, EBI-302319; Q8TEW0:PARD3; NbExp=6; IntAct=EBI-306940, EBI-81968; Q9NPB6:PARD6A; NbExp=2; IntAct=EBI-306940, EBI-81876; Q9BYG5:PARD6B; NbExp=2; IntAct=EBI-306940, EBI-295391; Q9BYG4:PARD6G; NbExp=2; IntAct=EBI-306940, EBI-295417; P41743:PRKCI; NbExp=3; IntAct=EBI-306940, EBI-286199; P04049:RAF1; NbExp=2; IntAct=EBI-306940, EBI-365996; TISSUE SPECIFICITY: Expressed mainly in the brain and present in other tissues albeit at lower levels. SIMILARITY: Belongs to the 14-3-3 family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): YWHAH CDC HuGE Published Literature: YWHAH Positive Disease Associations: schizophrenia Related Studies:
schizophrenia Bell R 2000, Systematic screening of the 14-3-3 eta (eta) chain gene for polymorphic variants and case-control analysis in schizophrenia., American journal of medical genetics. 2000 Dec;96(6):736-43.
Haplotype analysis of pairs of polymorphisms provided no evidence for association of this gene with schizophrenia in the population studied.
schizophrenia Toyooka K 1999, , American journal of medical genetics. 1999 Apr;88(2):164-7.
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.
ModBase Predicted Comparative 3D Structure on Q04917
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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.
Biological Process: GO:0002028 regulation of sodium ion transport GO:0006713 glucocorticoid catabolic process GO:0006886 intracellular protein transport GO:0021762 substantia nigra development GO:0042921 glucocorticoid receptor signaling pathway GO:0045664 regulation of neuron differentiation GO:0045893 positive regulation of transcription, DNA-templated GO:0048167 regulation of synaptic plasticity GO:0050774 negative regulation of dendrite morphogenesis GO:0061024 membrane organization GO:0086010 membrane depolarization during action potential GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:2000649 regulation of sodium ion transmembrane transporter activity
BioCarta from NCI Cancer Genome Anatomy Project h_cdc25Pathway - cdc25 and chk1 Regulatory Pathway in response to DNA damage h_aktPathway - AKT Signaling Pathway h_hdacPathway - Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) h_pgc1aPathway - Regulation of PGC-1a h_MITRPathway - Signal Dependent Regulation of Myogenesis by Corepressor MITR h_rbPathway - RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage h_achPathway - Role of nicotinic acetylcholine receptors in the regulation of apoptosis h_g2Pathway - Cell Cycle: G2/M Checkpoint h_badPathway - Regulation of BAD phosphorylation h_igf1rPathway - Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation h_plk3Pathway - Regulation of cell cycle progression by Plk3