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

Gene ID: 10267, updated on 8-Oct-2024

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
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Genomic context

See RAMP1 in Genome Data Viewer
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_000002.12Genomic Context describing neighboring genes Neighboring gene LRR binding FLII interacting protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238595001-238595502 Neighboring gene uncharacterized LOC124906128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238595503-238596002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238599723-238600598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17373 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238611455-238612335 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238612336-238613215 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238626179-238626695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238630967-238631468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238631469-238631968 Neighboring gene Sharpr-MPRA regulatory region 7631 Neighboring gene Sharpr-MPRA regulatory region 7730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238653055-238653580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17376 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:238671072-238671284 Neighboring gene RNA binding motif protein 44 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238766078-238766866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238766867-238767653 Neighboring gene small nucleolar RNA SNORD55/SNORD39 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238791275-238791776 Neighboring gene MPRA-validated peak4098 silencer Neighboring gene VISTA enhancer hs1968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17378 Neighboring gene MPRA-validated peak4100 silencer Neighboring gene uncharacterized LOC105373960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12482 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:238850021-238850520 Neighboring gene uncharacterized LOC124908001

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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)

NEW Try the new Transcript table

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)

  1. NM_001308353.2NP_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:15123
    RAMP; Receptor activity modifying family
  2. NM_005855.4NP_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:37145
    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

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    237858880..237912106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    E9PC20
    Related
    ENSP00000384688.2, ENST00000404910.6
    Conserved Domains (1) summary
    pfam04901
    Location:15123
    RAMP; Receptor activity modifying family
  2. XM_017003152.3XP_016858641.1  receptor activity-modifying protein 1 isoform X1

    UniProtKB/TrEMBL
    E9PC20
    Related
    ENSP00000386046.1, ENST00000403885.1
    Conserved Domains (1) summary
    pfam04901
    Location:15123
    RAMP; Receptor activity modifying family
  3. XM_017003156.3XP_016858645.1  receptor activity-modifying protein 1 isoform X1

    UniProtKB/TrEMBL
    E9PC20
    Conserved Domains (1) summary
    pfam04901
    Location:15123
    RAMP; Receptor activity modifying family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    238348771..238402144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    E9PC20
  2. XM_054340130.1XP_054196105.1  receptor activity-modifying protein 1 isoform X1

    UniProtKB/TrEMBL
    E9PC20
  3. XM_054340131.1XP_054196106.1  receptor activity-modifying protein 1 isoform X1

    UniProtKB/TrEMBL
    E9PC20