RAMP1
receptor activity modifying protein 1
Summary
The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3754701 | 2:238,767,204 | A/T | regulatory region variant | — |
| rs3769048 | 2:238,769,861 | G/A | regulatory region variant | — |
| rs888987308 | 2:238,785,871 | C/T | — | uncertain significance |
| rs748950129 | 2:238,785,908 | A/T | — | uncertain significance |
| rs2473724171 | 2:238,785,935 | T/C | — | uncertain significance |
| rs754712934 | 2:238,785,974 | C/T | — | uncertain significance |
| rs768699419 | 2:238,786,002 | C/G | — | uncertain significance |
| rs7557078 | 2:238,789,858 | C/A | intron variant | — |
| rs557641985 | 2:238,805,397 | C/T | — | — |
| rs1584243 | 2:238,815,878 | T/G | — | — |
| rs10199956 | 2:238,816,588 | T/A | — | — |
| rs762689722 | 2:238,820,177 | A/G | — | likely benign |
| rs751738537 | 2:238,820,312 | C/T | — | uncertain significance |
| rs2473780390 | 2:238,820,318 | C/T | — | uncertain significance |
| rs757584759 | 2:238,820,348 | G/A | — | uncertain significance |
| rs202014277 | 2:238,820,368 | C/A | — | benign |
| rs61752232 | 2:238,820,380 | G/A | — | benign |
| rs750677639 | 2:238,820,402 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.