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Gene Symbol |
YAP1 |
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Aliases |
COB1, YAP, YAP2, YAP65, YKI |
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Entrez Gene ID |
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Gene Name |
Yes1 associated transcriptional regulator |
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Chromosomal Location |
11q22.1 |
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HGNC ID |
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Summary |
This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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SNPs
SNP Id |
Upstream Sequence |
SNP |
Downstream Sequence |
Functional Significance |
References |
rs1894116 |
TTGTGGGACTTCAGAAGAGAGAAAGA |
C/T |
GTGGGCTGGACATCAAAGAAGGCCT |
Intron variant |
22885925 | |
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Gene Ontology (GO)
GO ID |
Ontology |
Function |
Evidence |
Reference |
GO:0006974 |
Biological process |
Cellular response to DNA damage stimulus |
IDA |
18280240 |
GO:0008283 |
Biological process |
Cell proliferation |
IDA |
17974916 |
GO:0032570 |
Biological process |
Response to progesterone |
IDA |
16772533 |
GO:0033148 |
Biological process |
Positive regulation of intracellular estrogen receptor signaling pathway |
IDA |
16772533 |
GO:0035329 |
Biological process |
Hippo signaling |
IBA |
21873635 |
GO:0035329 |
Biological process |
Hippo signaling |
TAS |
18158288 |
GO:0045893 |
Biological process |
Positive regulation of transcription, DNA-templated |
IDA |
20368466 |
GO:0045893 |
Biological process |
Positive regulation of transcription, DNA-templated |
IMP |
20123905 |
GO:0045944 |
Biological process |
Positive regulation of transcription by RNA polymerase II |
IBA |
21873635 |
GO:0045944 |
Biological process |
Positive regulation of transcription by RNA polymerase II |
IDA |
25796446 |
GO:0050767 |
Biological process |
Regulation of neurogenesis |
IDA |
25433207 |
GO:0050847 |
Biological process |
Progesterone receptor signaling pathway |
IDA |
16772533 |
GO:0060242 |
Biological process |
Contact inhibition |
IDA |
17974916 |
GO:0065003 |
Biological process |
Protein-containing complex assembly |
IDA |
20368466 |
GO:0065003 |
Biological process |
Protein-containing complex assembly |
IMP |
20123905 |
GO:0071480 |
Biological process |
Cellular response to gamma radiation |
IDA |
18280240 |
GO:0072091 |
Biological process |
Regulation of stem cell proliferation |
IDA |
25433207 |
GO:0005634 |
Cellular component |
Nucleus |
IBA |
21873635 |
GO:0005634 |
Cellular component |
Nucleus |
IDA |
17974916, 18158288, 18280240, 25796446, 28169360 |
GO:0005737 |
Cellular component |
Cytoplasm |
IBA |
21873635 |
GO:0005737 |
Cellular component |
Cytoplasm |
IDA |
17974916, 18158288 |
GO:0071148 |
Cellular component |
TEAD-1-YAP complex |
IDA |
20123905 |
GO:0071149 |
Cellular component |
TEAD-2-YAP complex |
IDA |
20368466 |
GO:0003713 |
Molecular function |
Transcription coactivator activity |
IBA |
21873635 |
GO:0003713 |
Molecular function |
Transcription coactivator activity |
IDA |
18158288, 18280240, 20368466, 25796446 |
GO:0003713 |
Molecular function |
Transcription coactivator activity |
IMP |
20123905 |
GO:0003714 |
Molecular function |
Transcription corepressor activity |
IBA |
21873635 |
GO:0003714 |
Molecular function |
Transcription corepressor activity |
IDA |
18158288 |
GO:0005515 |
Molecular function |
Protein binding |
IPI |
7644498, 9202023, 9305852, 11278422, 11278685, 15161933, 17502622, 17974916, 18158288, 18280240, 18579750, 19439659, 19914168, 20048001, 20368466, 21187284, 21376238, 22234184, 22525271, 22863277, 22921829, 22948661, 23245941, 24211253, 24255178, 24366813, 24525233, 24581491, 248825 |
GO:0033613 |
Molecular function |
Activating transcription factor binding |
IPI |
20123905, 20368466 |
GO:0044212 |
Molecular function |
Transcription regulatory region DNA binding |
IDA |
18280240 |
GO:0046982 |
Molecular function |
Protein heterodimerization activity |
IPI |
20123905, 20368466 |
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Protein Information |
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Protein Name |
Transcriptional coactivator YAP1, 65 kDa Yes-associated protein, Yes associated protein 1, protein yorkie homolog, yes-associated protein 1, yes-associated protein 2, yes-associated protein YAP65 homolog, yorkie homolog |
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Function |
Transcriptional regulator which can act both as a coactivator and a corepressor and is the critical downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:17974916, PubMed:18280240, PubMed:18579750, PubMed:21364637, PubMed:30447097). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ (PubMed:18158288). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts via ARHGAP18, a Rho GTPase activating protein that suppresses F-actin polymerization (PubMed:25778702). Plays a key role to control cell proliferation in response to cell contact. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration (PubMed:18158288). The presence of TEAD transcription factors are required for it to stimulate gene expression, cell growth, anchorage-independent growth, and epithelial mesenchymal transition (EMT) induction (PubMed:18579750). .; [Isoform 2]: Isoform 2 and isoform 3 can activate the C-terminal fragment (CTF) of ERBB4 (isoform 3). |
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UniProt |
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PDB |
3MHR, 6G6X, 6G8P, 6G8Q, 2LAW, 2LAX, 2LAY, 2LTV, 2LTW, 3KYS, 4RE1, 6HIL, 5OAQ, 6GE3, 6GE4, 6GE5, 6GE6, 6GEC, 6GEE, 6GEG, 6GEI, 6GEK, 6HIK, 1JMQ, 1K5R, 1K9Q, 1K9R, 4REX, 5YDX, 5YDY |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000287641 |
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P61278 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Congenital ocular coloboma |
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Endocrine System Diseases |
PCOS |
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Musculoskeletal Diseases |
Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation |
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Neoplasms |
Brain Neoplasms |
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Breast Cancer |
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Head Neoplasms |
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Ovarian Cancer |
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Neoplasms |
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Neuroblastoma |
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Nervous System Diseases |
Migraine |
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Psychiatric/Brain disorders |
Intellectual Disability |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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LHCGR, THADA, DENND1A, FSHR, c9orf3, RAB5B/SUOX, HMGA2, TOX3, INSR, SUMO1P1 |
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rs1894116 |
Rotterdam criteria |
Direct
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703 Dutch PCOS patients and 2164 Dutch controls |
This study identifies 12 genetic variants mapping to the Chinese PCOS loci similar effect size and identical direction in PCOS patients from Northern European ancestry, indicating a common genetic risk profile for PCOS across populations |
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PCOS |
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Rotterdam criteria |
Direct
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1115 PCOS patients, 1137 controls |
YAP1 appears to be a new susceptibility gene forPCOSin Han Chinese women |
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LHCGR, THADA, FSHR, KHDRBS3, RAB5B and TOX3 |
hyperandrogenemia, menstruation number/year and polycystic ovary morphology |
rs1894116 |
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Direct
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862 women with PCOS and 860 controls in the Korean population |
The GRS was higher in women with PCOS than in controls (8.8 versus 8.2, P < 0.01) and was significantly associated with PCOS after adjusting for age and BMI |
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