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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]
YAP1 (Yes1 Associated Transcriptional Regulator) is a Protein Coding gene. Diseases associated with YAP1 include Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation and Coloboma Of Macula. Among its related pathways are Signaling by GPCR and Signaling by Hippo. Gene Ontology (GO) annotations related to this gene include chromatin binding and transcription regulatory region DNA binding. An important paralog of this gene is WWTR1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 18280240 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IEA | -- |
GO:0003713 | transcription coactivator activity | IMP | 20123905 |
GO:0003714 | transcription corepressor activity | IDA | 18158288 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 17974916 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IEA | -- |
GO:0005737 | cytoplasm | IBA,IDA | 17974916 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
2 | Signaling by ERBB4 | ||
3 | Gene Expression |
.48
|
|
4 | Metabolism |
.40
|
|
5 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000902 | cell morphogenesis | IEA | -- |
GO:0001570 | vasculogenesis | IEA | -- |
GO:0001894 | tissue homeostasis | IEA | -- |
GO:0003015 | heart process | IEA | -- |
GO:0003143 | embryonic heart tube morphogenesis | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | · | 12d | · | 12e | · | 12f |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | YAP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
YAP1 30 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | YAP1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | YAP1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Yap1 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | YAP1 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | YAP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | YAP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | yap1 30 |
|
||
Str.16747 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7656 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | yap1 30 31 |
|
OneToOne | |
Dr.12698 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | yki 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7043 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711380 | Benign: not provided | 102,110,869(+) | G/A | SYNONYMOUS_VARIANT | |
717444 | Likely Benign: not provided | 102,209,523(+) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
722492 | Likely Benign: not provided | 102,229,779(+) | A/G | MISSENSE_VARIANT | |
725467 | Likely Benign: not provided | 102,111,052(+) | C/G | SYNONYMOUS_VARIANT | |
726526 | Likely Benign: not provided | 102,111,164(+) | C/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1269n100 | CNV | gain | 25217958 |
esv2524266 | CNV | deletion | 19546169 |
esv3580072 | CNV | gain | 25503493 |
esv3627522 | CNV | loss | 21293372 |
nsv1043388 | CNV | gain | 25217958 |
nsv1069618 | CNV | deletion | 25765185 |
nsv556141 | CNV | gain | 21841781 |
nsv832251 | CNV | loss | 17160897 |
nsv972064 | CNV | duplication | 23825009 |
nsv975221 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation |
|
|
coloboma of macula |
|
|
epithelioid hemangioendothelioma |
|
|
gastric cancer |
|
|
hepatocellular carcinoma |
|