UniProt functional annotation for P36894



	UniProt functional annotation for P36894

UniProt code: P36894.

Organism: Homo sapiens (Human).

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

Function: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6. {ECO:0000250|UniProtKB:P36895}.

Catalytic activity: Reaction=ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho- L-threonyl-[receptor-protein]; Xref=Rhea:RHEA:44880, Rhea:RHEA- COMP:11024, Rhea:RHEA-COMP:11025, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.30;

Catalytic activity: Reaction=ATP + L-seryl-[receptor-protein] = ADP + H(+) + O-phospho-L- seryl-[receptor-protein]; Xref=Rhea:RHEA:18673, Rhea:RHEA-COMP:11022, Rhea:RHEA-COMP:11023, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.30;

Cofactor: Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250};

Subunit: Interacts with BMP2 (PubMed:10881198, PubMed:15064755, PubMed:17295905, PubMed:18937504). Interacts with low affinity with GDF5; positively regulates chondrocyte differentiation (PubMed:24098149). Interacts with BMP4 (PubMed:8006002). {ECO:0000269|PubMed:10881198, ECO:0000269|PubMed:18937504, ECO:0000269|PubMed:24098149, ECO:0000269|PubMed:8006002}.

Subcellular location: Cell membrane {ECO:0000250|UniProtKB:P36898}; Single-pass type I membrane protein {ECO:0000255}. Cell surface {ECO:0000250|UniProtKB:P36895}.

Tissue specificity: Highly expressed in skeletal muscle.

Ptm: Glycosylated. {ECO:0000250|UniProtKB:P36895}.

Disease: Juvenile polyposis syndrome (JPS) [MIM:174900]: Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers. {ECO:0000269|PubMed:11536076, ECO:0000269|PubMed:12136244, ECO:0000269|PubMed:12417513, ECO:0000269|PubMed:12630959}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Polyposis syndrome, mixed hereditary 2 (HMPS2) [MIM:610069]: A disease is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Note=A microdeletion of chromosome 10q23 involving BMPR1A and PTEN is a cause of chromosome 10q23 deletion syndrome, which shows overlapping features of the following three disorders: Bannayan-Zonana syndrome, Cowden disease and juvenile polyposis syndrome. {ECO:0000269|PubMed:11381269, ECO:0000269|PubMed:16525031}.

Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. {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:		On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6. {ECO:0000250\|UniProtKB:P36895}.


Catalytic activity:		Reaction=ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho- L-threonyl-[receptor-protein]; Xref=Rhea:RHEA:44880, Rhea:RHEA- COMP:11024, Rhea:RHEA-COMP:11025, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.30;
Catalytic activity:		Reaction=ATP + L-seryl-[receptor-protein] = ADP + H(+) + O-phospho-L- seryl-[receptor-protein]; Xref=Rhea:RHEA:18673, Rhea:RHEA-COMP:11022, Rhea:RHEA-COMP:11023, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.30;
Cofactor:		Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250};
Subunit:		Interacts with BMP2 (PubMed:10881198, PubMed:15064755, PubMed:17295905, PubMed:18937504). Interacts with low affinity with GDF5; positively regulates chondrocyte differentiation (PubMed:24098149). Interacts with BMP4 (PubMed:8006002). {ECO:0000269\|PubMed:10881198, ECO:0000269\|PubMed:18937504, ECO:0000269\|PubMed:24098149, ECO:0000269\|PubMed:8006002}.
Subcellular location:		Cell membrane {ECO:0000250\|UniProtKB:P36898}; Single-pass type I membrane protein {ECO:0000255}. Cell surface {ECO:0000250\|UniProtKB:P36895}.
Tissue specificity:		Highly expressed in skeletal muscle.
Ptm:		Glycosylated. {ECO:0000250\|UniProtKB:P36895}.
Disease:		Juvenile polyposis syndrome (JPS) [MIM:174900]: Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers. {ECO:0000269\|PubMed:11536076, ECO:0000269\|PubMed:12136244, ECO:0000269\|PubMed:12417513, ECO:0000269\|PubMed:12630959}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Polyposis syndrome, mixed hereditary 2 (HMPS2) [MIM:610069]: A disease is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Note=A microdeletion of chromosome 10q23 involving BMPR1A and PTEN is a cause of chromosome 10q23 deletion syndrome, which shows overlapping features of the following three disorders: Bannayan-Zonana syndrome, Cowden disease and juvenile polyposis syndrome. {ECO:0000269\|PubMed:11381269, ECO:0000269\|PubMed:16525031}.
Similarity:		Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. {ECO:0000305}.