UniProt functional annotation for Q15743



	UniProt functional annotation for Q15743

UniProt code: Q15743.

Organism: Homo sapiens (Human).

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

Function: Proton-sensing receptor involved in pH homeostasis. May represents an osteoblastic pH sensor regulating cell-mediated responses to acidosis in bone. Mediates its action by association with G proteins that stimulates inositol phosphate (IP) production or Ca(2+) mobilization. The receptor is almost silent at pH 7.8 but fully activated at pH 6.8. Also functions as a metastasis suppressor gene in prostate cancer (By similarity). {ECO:0000250, ECO:0000269|PubMed:12955148}.

Subcellular location: Cell membrane; Multi-pass membrane protein.

Tissue specificity: Found at low level in a wide range of tissues, but significantly expressed in lung, kidney, bone and nervous system. {ECO:0000269|PubMed:12955148}.

Disease: Amelogenesis imperfecta, hypomaturation type, 2A6 (AI2A6) [MIM:617217]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. {ECO:0000269|PubMed:27693231}. Note=The disease is caused by variants affecting the gene represented in this entry.

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

Sequence caution: Sequence=AAH96071.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH96072.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH96073.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH96074.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH98567.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAT38917.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=ACG60649.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW81447.1; Type=Erroneous initiation; 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:		Proton-sensing receptor involved in pH homeostasis. May represents an osteoblastic pH sensor regulating cell-mediated responses to acidosis in bone. Mediates its action by association with G proteins that stimulates inositol phosphate (IP) production or Ca(2+) mobilization. The receptor is almost silent at pH 7.8 but fully activated at pH 6.8. Also functions as a metastasis suppressor gene in prostate cancer (By similarity). {ECO:0000250, ECO:0000269\|PubMed:12955148}.


Subcellular location:		Cell membrane; Multi-pass membrane protein.
Tissue specificity:		Found at low level in a wide range of tissues, but significantly expressed in lung, kidney, bone and nervous system. {ECO:0000269\|PubMed:12955148}.
Disease:		Amelogenesis imperfecta, hypomaturation type, 2A6 (AI2A6) [MIM:617217]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. {ECO:0000269\|PubMed:27693231}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the G-protein coupled receptor 1 family. {ECO:0000255\|PROSITE-ProRule:PRU00521}.
Sequence caution:		Sequence=AAH96071.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH96072.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH96073.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH96074.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH98567.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAT38917.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=ACG60649.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW81447.1; Type=Erroneous initiation; Evidence={ECO:0000305};