RAMP3 receptor activity modifying protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAMP3provided by HGNC
Official Full Name: receptor activity modifying protein 3provided by HGNC
Primary source: HGNC:HGNC:9845
See related: Ensembl:ENSG00000122679 MIM:605155; AllianceGenome:HGNC:9845
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 (RAMP3) protein, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008]
Expression: Broad expression in lung (RPKM 28.4), lymph node (RPKM 13.1) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (45157791..45184250)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (45318568..45345028)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (45197390..45223849)

Chromosome 7 - NC_000007.14 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?

Adrenomedullin 2 and 5 activate the calcitonin receptor-like receptor (clr) - Receptor activity-modifying protein 3 (ramp3) receptor complex in Xenopus tropicalis.
Title: Adrenomedullin 2 and 5 activate the calcitonin receptor-like receptor (clr) - Receptor activity-modifying protein 3 (ramp3) receptor complex in Xenopus tropicalis.
high RAMP3 expression is an independent prognostic factor of favorable overall survival and recurrence-free survival in patients with HCC and its expression might reduce the negative effect of TP53 mutation on survival.
Title: RAMP3 is a prognostic indicator of liver cancer and might reduce the adverse effect of TP53 mutation on survival.
interaction of RAMP2 or RAMP3 with CLR induces conformational variation in the juxtamembrane region, yielding distinct binding pockets, probably via an allosteric mechanism.
Title: Receptor Activity-modifying Proteins 2 and 3 Generate Adrenomedullin Receptor Subtypes with Distinct Molecular Properties.
the AM system is widely expressed in human thymus from newborns; both AM1 receptor components CLR and RAMP2, but not RAMP3, are not associated with the plasma membrane of TECs and thymocytes but are located intracellularly, notably in the nucleus
Title: Expression and distribution of the adrenomedullin system in newborn human thymus.
Data suggest isoforms of RAMP modulate accessibility of peptides to residues situated on CALCRL (calcitonin receptor-like receptor) N-terminal domain; RAMP3/RAMP2/RAMP1 appear to alter accessibility of specific residues at CALCRL-RAMP interface.
Title: Receptor activity-modifying protein-dependent effects of mutations in the calcitonin receptor-like receptor: implications for adrenomedullin and calcitonin gene-related peptide pharmacology.
The expression of RAMP3 is downregulated in the fetal lung with increasing gestational age.
Title: Adrenomedullin expression in the developing human fetal lung.
the RAMP3 TMD participates in the negative regulation of CLR/RAMP3 internalization.
Title: Characterization of the single transmembrane domain of human receptor activity-modifying protein 3 in adrenomedullin receptor internalization.
Data show that LOXL2 and RAMP3 are strongly coexpressed in human colon, breast, and gastric carcinomas but not in normal colon or gastric epithelial cells.
Title: Receptor activity modifying protein-3 mediates the protumorigenic activity of lysyl oxidase-like protein-2.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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
Genome-wide analysis of hepatic lipid content in extreme obesity. 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 adrenomedullin receptor activity	IPI Inferred from Physical Interaction more info	PubMed
enables amylin receptor activity	IGI Inferred from Genetic Interaction more info	PubMed
enables amyloid-beta binding	IC Inferred by Curator 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 G protein-coupled receptor signaling pathway involved in heart process	ISS Inferred from Sequence or Structural Similarity more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IPI Inferred from Physical Interaction more info	PubMed
involved_in adrenomedullin receptor signaling pathway	IPI Inferred from Physical Interaction more info	PubMed
involved_in amylin receptor signaling pathway	IGI Inferred from Genetic 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 estradiol stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to hormone stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cross-receptor inhibition within G protein-coupled receptor heterodimer	IPI Inferred from Physical Interaction more info	PubMed
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cAMP/PKA signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of calcium-mediated signaling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of receptor recycling	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 response to amyloid-beta	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
part_of adrenomedullin receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of amylin receptor complex 3	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 lysosome	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 3

Names: CRLR activity-modifying protein 3; calcitonin receptor-like receptor activity modifying protein 3; receptor (G protein-coupled) activity modifying protein 3; receptor (calcitonin) activity modifying protein 3

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_005856.3 → NP_005847.1 receptor activity-modifying protein 3 precursor

See identical proteins and their annotated locations for NP_005847.1

Status: REVIEWED

Source sequence(s)

BC053852, BP347072

Consensus CDS

CCDS5503.1

UniProtKB/Swiss-Prot

O60896, Q7Z2Y1

UniProtKB/TrEMBL

A4D2L1, J3KR56

Related

ENSP00000242249.4, ENST00000242249.8

Conserved Domains (1) summary

pfam04901
Location:38 → 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_000007.14 Reference GRCh38.p14 Primary Assembly

Range

45157791..45184250

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006715631.4 → XP_006715694.1 receptor activity-modifying protein 3 isoform X1

Conserved Domains (1) summary

pfam04901
Location:149 → 256

RAMP; Receptor activity modifying family