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

Gene ID: 10267, updated on 8-Oct-2017
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; Vega:OTTHUMG00000133337
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]
Orthologs
Location:
2q37.3
Exon count:
8
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (237858714..237912117)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (238768187..238820756)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene LRR binding FLII interacting protein 1 Neighboring gene RNA binding motif protein 44 Neighboring gene uncharacterized LOC105373960 Neighboring gene UBE2F-SCLY readthrough (NMD candidate) Neighboring gene ubiquitin conjugating enzyme E2 F (putative) Neighboring gene RNA, U6 small nuclear 1333, pseudogene

  • Project title: 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • Calcitonin-like ligand receptors, organism-specific biosystem (from REACTOME)
    Calcitonin-like ligand receptors, organism-specific biosystemThe calcitonin peptide family comprises calcitonin, amylin, calcitonin gene-related peptide (CGRP), adrenomedullin (AM) and intermedin (AM2). Calcitonin is a 32 amino acid peptide, involved in bone h...
  • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
    Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
  • Endothelin Pathways, organism-specific biosystem (from WikiPathways)
    Endothelin Pathways, organism-specific biosystemEndothelin-1 is a bicyclic 21 amino acid peptide, produced primarily in the endothelium. It is a potent stimulus of long-lasting and persistent vasoconstriction. It also has a role as a stimulus of i...
  • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
    Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
    Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
    Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to amylin receptor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
calcitonin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
calcitonin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
coreceptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
amylin receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intracellular IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
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

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_001308353.1NP_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)
    AI017108, BI548986, BM978161, BX327017
    Consensus CDS
    CCDS77546.1
    UniProtKB/TrEMBL
    E9PC20
    Related
    ENSP00000386720.1, OTTHUMP00000202768, ENST00000409726.5, OTTHUMT00000328696
    Conserved Domains (1) summary
    pfam04901
    Location:15123
    RAMP; Receptor activity modifying family
  2. NM_005855.3NP_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, BX327017
    Consensus CDS
    CCDS2522.1
    UniProtKB/Swiss-Prot
    O60894
    Related
    ENSP00000254661.4, OTTHUMP00000164475, ENST00000254661.4, OTTHUMT00000257166
    Conserved Domains (1) summary
    pfam04901
    Location:37145
    RAMP; Receptor activity modifying family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

    Range
    237858714..237912117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    E9PC20
    Related
    ENSP00000384688.2, OTTHUMP00000197149, ENST00000404910.6, OTTHUMT00000317766
    Conserved Domains (1) summary
    pfam04901
    Location:15123
    RAMP; Receptor activity modifying family
  2. XM_017003155.1XP_016858644.1  receptor activity-modifying protein 1 isoform X2

  3. XM_017003152.1XP_016858641.1  receptor activity-modifying protein 1 isoform X1

    UniProtKB/TrEMBL
    E9PC20
    Related
    ENSP00000386046.1, OTTHUMP00000197148, ENST00000403885.1, OTTHUMT00000317765
    Conserved Domains (1) summary
    pfam04901
    Location:15123
    RAMP; Receptor activity modifying family
  4. XM_017003156.1XP_016858645.1  receptor activity-modifying protein 1 isoform X1

    UniProtKB/TrEMBL
    E9PC20
    Conserved Domains (1) summary
    pfam04901
    Location:15123
    RAMP; Receptor activity modifying family
  5. XM_017003154.1XP_016858643.1  receptor activity-modifying protein 1 isoform X1

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

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    238773978..238826567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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