UniProt functional annotation for Q16602



	UniProt functional annotation for Q16602

UniProt code: Q16602.

Organism: Homo sapiens (Human).

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

Function: Receptor for calcitonin-gene-related peptide (CGRP) together with RAMP1 and receptor for adrenomedullin together with RAMP3 (By similarity). Receptor for adrenomedullin together with RAMP2 (PubMed:22102369, PubMed:30115739). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (PubMed:22102369, PubMed:30115739). {ECO:0000250, ECO:0000269|PubMed:22102369, ECO:0000269|PubMed:30115739}.

Subunit: Heterodimer of CALCRL and RAMP3 (By similarity). Heterodimer of CALCRL and RAMP1 or CALCRL and RAMP2. {ECO:0000250, ECO:0000269|PubMed:20826335, ECO:0000269|PubMed:22102369, ECO:0000269|PubMed:30115739}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:30115739}; Multi-pass membrane protein.

Tissue specificity: Predominantly expressed in the lung and heart.

Disease: Lymphatic malformation 8 (LMPHM8) [MIM:618773]: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Adult patients with lymphedema may suffer from recurrent local infections. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM8 is an autosomal recessive form characterized by onset in utero and fetal death due to non-immune hydrops fetalis. {ECO:0000269|PubMed:30115739}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the G-protein coupled receptor 2 family. {ECO:0000305}.

Sequence caution: Sequence=BAF84319.1; 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:		Receptor for calcitonin-gene-related peptide (CGRP) together with RAMP1 and receptor for adrenomedullin together with RAMP3 (By similarity). Receptor for adrenomedullin together with RAMP2 (PubMed:22102369, PubMed:30115739). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (PubMed:22102369, PubMed:30115739). {ECO:0000250, ECO:0000269\|PubMed:22102369, ECO:0000269\|PubMed:30115739}.


Subunit:		Heterodimer of CALCRL and RAMP3 (By similarity). Heterodimer of CALCRL and RAMP1 or CALCRL and RAMP2. {ECO:0000250, ECO:0000269\|PubMed:20826335, ECO:0000269\|PubMed:22102369, ECO:0000269\|PubMed:30115739}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:30115739}; Multi-pass membrane protein.
Tissue specificity:		Predominantly expressed in the lung and heart.
Disease:		Lymphatic malformation 8 (LMPHM8) [MIM:618773]: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Adult patients with lymphedema may suffer from recurrent local infections. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM8 is an autosomal recessive form characterized by onset in utero and fetal death due to non-immune hydrops fetalis. {ECO:0000269\|PubMed:30115739}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the G-protein coupled receptor 2 family. {ECO:0000305}.
Sequence caution:		Sequence=BAF84319.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};