UniProt functional annotation for P28347



	UniProt functional annotation for P28347

UniProt code: P28347.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, 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. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds specifically and cooperatively to the SPH and GT-IIC 'enhansons' (5'-GTGGAATGT-3') and activates transcription in vivo in a cell-specific manner. The activation function appears to be mediated by a limiting cell-specific transcriptional intermediary factor (TIF). Involved in cardiac development. Binds to the M-CAT motif. {ECO:0000269|PubMed:18579750, ECO:0000269|PubMed:19324877}.

Subunit: Interacts with YAP1 and WWTR1/TAZ. {ECO:0000269|PubMed:18579750, ECO:0000269|PubMed:19324877, ECO:0000269|PubMed:20123905}.

Subcellular location: Nucleus.

Tissue specificity: Preferentially expressed in skeletal muscle. Lower levels in pancreas, placenta, and heart.

Disease: Sveinsson chorioretinal atrophy (SCRA) [MIM:108985]: Characterized by symmetrical lesions radiating from the optic disk involving the retina and the choroid. {ECO:0000269|PubMed:15016762, ECO:0000269|PubMed:18579750, ECO:0000269|PubMed:20123905}. Note=The disease is caused by variants affecting the gene represented in this entry.

Sequence caution: Sequence=AAB00791.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ATT isoleucine codon.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, 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. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds specifically and cooperatively to the SPH and GT-IIC 'enhansons' (5'-GTGGAATGT-3') and activates transcription in vivo in a cell-specific manner. The activation function appears to be mediated by a limiting cell-specific transcriptional intermediary factor (TIF). Involved in cardiac development. Binds to the M-CAT motif. {ECO:0000269\|PubMed:18579750, ECO:0000269\|PubMed:19324877}.


Subunit:		Interacts with YAP1 and WWTR1/TAZ. {ECO:0000269\|PubMed:18579750, ECO:0000269\|PubMed:19324877, ECO:0000269\|PubMed:20123905}.
Subcellular location:		Nucleus.
Tissue specificity:		Preferentially expressed in skeletal muscle. Lower levels in pancreas, placenta, and heart.
Disease:		Sveinsson chorioretinal atrophy (SCRA) [MIM:108985]: Characterized by symmetrical lesions radiating from the optic disk involving the retina and the choroid. {ECO:0000269\|PubMed:15016762, ECO:0000269\|PubMed:18579750, ECO:0000269\|PubMed:20123905}. Note=The disease is caused by variants affecting the gene represented in this entry.
Sequence caution:		Sequence=AAB00791.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ATT isoleucine codon.; Evidence={ECO:0000305};