Gene Gene information from NCBI Gene database.
Entrez ID 10413
Gene name Yes1 associated transcriptional regulator
Gene symbol YAP1
Synonyms (NCBI Gene)
COB1YAPYAP-1YAP2YAP65YKI
Chromosome 11
Chromosome location 11q22.1
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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs587777249 C>T Pathogenic Coding sequence variant, 5 prime UTR variant, stop gained
rs587777250 G>T Pathogenic Coding sequence variant, stop gained
rs1591100766 C>G Likely-pathogenic 5 prime UTR variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
883
miRTarBase ID miRNA Experiments Reference
MIRT005047 hsa-let-7b-5p Microarray 17699775
MIRT005580 hsa-miR-630 ImmunoblotLuciferase reporter assayqRT-PCR 21274007
MIRT006154 hsa-miR-375 Luciferase reporter assayMicroarrayqRT-PCR 21856745
MIRT006154 hsa-miR-375 Luciferase reporter assayMicroarrayqRT-PCR 21856745
MIRT006154 hsa-miR-375 Luciferase reporter assayMicroarrayqRT-PCR 21856745
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
121
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 25849865
GO:0000902 Process Cell morphogenesis IEA
GO:0000976 Function Transcription cis-regulatory region binding IDA 18280240
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0001570 Process Vasculogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606608 16262 ENSG00000137693
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P46937
Protein name Transcriptional coactivator YAP1 (Yes-associated protein 1) (Protein yorkie homolog) (Yes-associated protein YAP65 homolog)
Protein function Transcriptional regulator with dual roles as a coactivator and corepressor. Critical downstream regulatory target in the Hippo signaling pathway, crucial for organ size control and tumor suppression by restricting proliferation and promoting apo
PDB 1JMQ , 1K5R , 1K9Q , 1K9R , 2LAW , 2LAX , 2LAY , 2LTV , 2LTW , 3KYS , 3MHR , 4RE1 , 4REX , 5OAQ , 5YDX , 5YDY , 6G6X , 6G8I , 6G8J , 6G8K , 6G8L , 6G8P , 6G8Q , 6GE3 , 6GE4 , 6GE5 , 6GE6 , 6GEC , 6GEE , 6GEG , 6GEI , 6GEK , 6HIK , 6HIL , 6Q2X , 7O07 , 8A8Q , 8A8R , 8C2F , 8WRG , 9FZA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00397 WW 173 202 WW domain Domain
PF00397 WW 232 261 WW domain Domain
Tissue specificity TISSUE SPECIFICITY: Increased expression seen in some liver and prostate cancers. Isoforms lacking the transactivation domain found in striatal neurons of patients with Huntington disease (at protein level). {ECO:0000269|PubMed:16461361, ECO:0000269|PubMe
Sequence
MDPGQQPPPQPAPQGQGQPPSQPPQGQGPPSGPGQPAPAATQAAPQAPPAGHQIVHVRGD
SETDLEALFNAVMNPKTANVPQTVPMRLRKLPDSFFKPPEPKSHSRQASTDAGTAGALTP
QHVRAHSSPASLQLGAVSPGTLTPTGVVSGPAATPTAQHLRQSSFEIPDDVPLPAGWEMA
KTSSGQRYFLNHIDQTTTWQDP
RKAMLSQMNVTAPTSPPVQQNMMNSASGPLPDGWEQAM
TQDGEIYYINHKNKTTSWLDP
RLDPRFAMNQRISQSAPVKQPPPLAPQSPQGGVMGGSNS
NQQQQMRLQQLQMEKERLRLKQQELLRQAMRNINPSTANSPKCQELALRSQLPTLEQDGG
TQNPVSSPGMSQELRTMTTNSSDPFLNSGTYHSRDESTDSGLSMSSYSVPRTPDDFLNSV
DEMDTGDTINQSTLPSQQNRFPDYLEAIPGTNVDLGTLEGDGMNIEGEELMPSLQEALSS
DILNDMESVLAATKLDKESFLTWL
Sequence length 504
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hippo signaling pathway
Hippo signaling pathway - multiple species
  Nuclear signaling by ERBB4
Signaling by Hippo
YAP1- and WWTR1 (TAZ)-stimulated gene expression
RUNX1 regulates transcription of genes involved in differentiation of HSCs
RUNX3 regulates YAP1-mediated transcription
EGR2 and SOX10-mediated initiation of Schwann cell myelination
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital ocular coloboma Pathogenic rs587777249 RCV000106407
Multiple myeloma Likely pathogenic rs1591100766 RCV000984109
Uveal coloboma-cleft lip and palate-intellectual disability Pathogenic; Likely pathogenic rs587777250, rs2135086778, rs1950250678 RCV000106408
RCV002246820
RCV001262413
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thymoma Likely benign rs757972279 RCV005906352
YAP1-related disorder Uncertain significance; Likely benign; Benign rs1391431049, rs1942859608, rs756175059, rs546561034, rs61749258, rs201354835, rs116990751, rs61746398 RCV003418829
RCV003901298
RCV003979763
RCV003939481
RCV003918476
RCV003968227
RCV003897934
RCV003928636
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 32749065
Acidosis Associate 35414794
Acute Kidney Injury Inhibit 32160412
Acute Kidney Injury Associate 36195583
Adenocarcinoma Associate 23298489, 23502453, 26884866, 28177901, 30604042
Adenocarcinoma of Lung Associate 18703216, 23298489, 26884866, 31187136, 31412817, 31592232, 33486901, 35435136, 36123390, 37801008, 37968341
Adenomyosis Associate 34082774
Adrenocortical Carcinoma Associate 27705928, 34257617
Alzheimer Disease Associate 37549144
Anal Canal Carcinoma Associate 32436169