UniProt functional annotation for P24530



	UniProt functional annotation for P24530

UniProt code: P24530.

Organism: Homo sapiens (Human).

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

Function: Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. {ECO:0000269|PubMed:7536888}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:28236341}; Multi-pass membrane protein. Note=internalized after activation by endothelins. {ECO:0000269|PubMed:28236341}.

Tissue specificity: Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells. {ECO:0000269|PubMed:9284755}.

Ptm: Palmitoylation of Cys-402 was confirmed by the palmitoylation of Cys-402 in a deletion mutant lacking both Cys-403 and Cys-405. {ECO:0000269|PubMed:9261180}.

Disease: Waardenburg syndrome 4A (WS4A) [MIM:277580]: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). {ECO:0000269|PubMed:12189494, ECO:0000269|PubMed:8634719}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Hirschsprung disease 2 (HSCR2) [MIM:600155]: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. {ECO:0000269|PubMed:11471546, ECO:0000269|PubMed:28236341, ECO:0000269|PubMed:8001158, ECO:0000269|PubMed:8630503, ECO:0000269|PubMed:8852660}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: ABCD syndrome (ABCDS) [MIM:600501]: An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine. {ECO:0000269|PubMed:11891690}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Note=Heterozygous mutations in EDNRB may be responsible for Waardenburg syndrome 2, an autosomal dominant disorder characterized by sensorineural deafness and pigmentary disturbances. {ECO:0000269|PubMed:28236341}.

Similarity: Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.

Sequence caution: Sequence=BAD92435.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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:		Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. {ECO:0000269\|PubMed:7536888}.


Subcellular location:		Cell membrane {ECO:0000269\|PubMed:28236341}; Multi-pass membrane protein. Note=internalized after activation by endothelins. {ECO:0000269\|PubMed:28236341}.
Tissue specificity:		Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells. {ECO:0000269\|PubMed:9284755}.
Ptm:		Palmitoylation of Cys-402 was confirmed by the palmitoylation of Cys-402 in a deletion mutant lacking both Cys-403 and Cys-405. {ECO:0000269\|PubMed:9261180}.
Disease:		Waardenburg syndrome 4A (WS4A) [MIM:277580]: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). {ECO:0000269\|PubMed:12189494, ECO:0000269\|PubMed:8634719}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Hirschsprung disease 2 (HSCR2) [MIM:600155]: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. {ECO:0000269\|PubMed:11471546, ECO:0000269\|PubMed:28236341, ECO:0000269\|PubMed:8001158, ECO:0000269\|PubMed:8630503, ECO:0000269\|PubMed:8852660}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		ABCD syndrome (ABCDS) [MIM:600501]: An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine. {ECO:0000269\|PubMed:11891690}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Note=Heterozygous mutations in EDNRB may be responsible for Waardenburg syndrome 2, an autosomal dominant disorder characterized by sensorineural deafness and pigmentary disturbances. {ECO:0000269\|PubMed:28236341}.
Similarity:		Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily. {ECO:0000255\|PROSITE-ProRule:PRU00521}.
Sequence caution:		Sequence=BAD92435.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};