RAMP1 receptor activity modifying protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAMP1provided by HGNC
Official Full Name: receptor activity modifying protein 1provided by HGNC
Primary source: HGNC:HGNC:9843
See related: Ensembl:ENSG00000132329 MIM:605153; AllianceGenome:HGNC:9843
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression: Biased expression in endometrium (RPKM 26.3), prostate (RPKM 10.7) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (237858880..237912106)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (238348771..238402144)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (238768266..238820748)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Involvement of RAMP1/p38MAPK signaling pathway in osteoblast differentiation in response to mechanical stimulation: a preliminary study.
Title: Involvement of RAMP1/p38MAPK signaling pathway in osteoblast differentiation in response to mechanical stimulation: a preliminary study.
Peptide ligand interaction with maltose-binding protein tagged to the calcitonin gene-related peptide receptor: The inhibitory role of receptor N-glycosylation.
Title: Peptide ligand interaction with maltose-binding protein tagged to the calcitonin gene-related peptide receptor: The inhibitory role of receptor N-glycosylation.
Structure and dynamics of the CGRP receptor in apo and peptide-bound forms.
Title: Structure and dynamics of the CGRP receptor in apo and peptide-bound forms.
in nestin/hRAMP1 transgenic mice, hypertension caused by Ang II or phenylephrine was greatly attenuated, and associated autonomic dysregulation and increased sympathetic vasomotor tone were diminished or abolished.
Title: Increased receptor activity-modifying protein 1 in the nervous system is sufficient to protect against autonomic dysregulation and hypertension.
Based on the finding that an acylated chimeric ADM/ADM2 analog potently stimulates CLR/RAMP1 and 2 signaling, we hypothesized that the binding domain of this analog could have potent inhibitory activity on CLR/RAMP receptors.
Title: Development of chimeric and bifunctional antagonists for CLR/RAMP receptors.
structure of the human CGRP receptor in complex with CGRP and the Gs-protein heterotrimer at 3.3 A global resolution, determined by Volta phase-plate cryo-electron microscopy
Title: Cryo-EM structure of the active, G(s)-protein complexed, human CGRP receptor.
T-A-T RAMP1 gene haplotype might have utility as a genetic marker for Essential Hypertension and that the RAMP1 gene may be associated with increased susceptibility to Essential Hypertension in a Japanese population.
Title: Haplotype-based, case-control study of the receptor (calcitonin) activity-modifying protein (RAMP) 1 gene in essential hypertension.
Data suggest CGRP receptor (CGRPR) ECL2 (extracellular loop 2 domain) enables interaction with N-terminal residues of CGRP; this provides evidence for dual involvement of ECL2 in two-domain binding model of CGRP/CGRPR interaction; CGRPR is obligate heterodimer of CLR/RAMP1. (CGRP = calcitonin gene-related peptide; CLR = calcitonin receptor-like receptor; RAMP1 = receptor [calcitonin] activity modifying protein 1)
Title: Relative Antagonism of Mutants of the CGRP Receptor Extracellular Loop 2 Domain (ECL2) Using a Truncated Competitive Antagonist (CGRP(8-37)): Evidence for the Dual Involvement of ECL2 in the Two-Domain Binding Model.
Evidence that DNA methylation at RAMP1 gene promoter plays a role in migraine was described.
Title: DNA methylation of RAMP1 gene in migraine: an exploratory analysis.
RAMP1 rs7590387 has a role in the transformation of episodic migraine into medication overuse headache.
Title: Association of RAMP1 rs7590387 with the risk of migraine transformation into medication overuse headache.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amylin receptor activity	IPI Inferred from Physical Interaction more info	PubMed
enables calcitonin gene-related peptide binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcitonin gene-related peptide receptor activity	IPI Inferred from Physical Interaction more info	PubMed
enables coreceptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IPI Inferred from Physical Interaction more info	PubMed
involved_in amylin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in calcitonin gene-related peptide receptor signaling pathway	IPI Inferred from Physical Interaction more info	PubMed
involved_in calcium ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hormone stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor internalization	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of CGRP receptor complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: receptor activity-modifying protein 1

Names: CRLR activity-modifying protein 1; calcitonin receptor-like receptor activity modifying protein 1; receptor (G protein-coupled) activity modifying protein 1; receptor (calcitonin) activity modifying protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001308353.2 → NP_001295282.1 receptor activity-modifying protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in its 5' UTR, compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (2) that has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

BI548986, BM978161

Consensus CDS

CCDS77546.1

UniProtKB/TrEMBL

E9PC20

Related

ENSP00000386720.1, ENST00000409726.5

Conserved Domains (1) summary

pfam04901
Location:15 → 123

RAMP; Receptor activity modifying family
NM_005855.4 → NP_005846.1 receptor activity-modifying protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_005846.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AI017108, AJ001014, BM126103

Consensus CDS

CCDS2522.1

UniProtKB/Swiss-Prot

O60894, Q6FGS5

Related

ENSP00000254661.4, ENST00000254661.5

Conserved Domains (1) summary

pfam04901
Location:37 → 145

RAMP; Receptor activity modifying family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

237858880..237912106

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017003153.3 → XP_016858642.1 receptor activity-modifying protein 1 isoform X1

UniProtKB/TrEMBL

E9PC20

Related

ENSP00000384688.2, ENST00000404910.6

Conserved Domains (1) summary

pfam04901
Location:15 → 123

RAMP; Receptor activity modifying family
XM_017003152.3 → XP_016858641.1 receptor activity-modifying protein 1 isoform X1

UniProtKB/TrEMBL

E9PC20

Related

ENSP00000386046.1, ENST00000403885.1

Conserved Domains (1) summary

pfam04901
Location:15 → 123

RAMP; Receptor activity modifying family
XM_017003156.3 → XP_016858645.1 receptor activity-modifying protein 1 isoform X1

UniProtKB/TrEMBL

E9PC20

Conserved Domains (1) summary

pfam04901
Location:15 → 123

RAMP; Receptor activity modifying family

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

238348771..238402144

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340132.1 → XP_054196107.1 receptor activity-modifying protein 1 isoform X1

UniProtKB/TrEMBL

E9PC20
XM_054340130.1 → XP_054196105.1 receptor activity-modifying protein 1 isoform X1

UniProtKB/TrEMBL

E9PC20
XM_054340131.1 → XP_054196106.1 receptor activity-modifying protein 1 isoform X1

UniProtKB/TrEMBL

E9PC20