MLNR motilin receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MLNRprovided by HGNC
Official Full Name: motilin receptorprovided by HGNC
Primary source: HGNC:HGNC:4495
See related: Ensembl:ENSG00000102539 MIM:602885; AllianceGenome:HGNC:4495
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
Also known as: GPR38; MTLR1
Summary: Motilin is a 22 amino acid peptide hormone expressed throughout the gastrointestinal (GI) tract. The protein encoded by this gene is a motilin receptor which is a member of the G-protein coupled receptor 1 family. This member is a multi-pass transmembrane protein, and is an important therapeutic target for the treatment of hypomotility disorders. [provided by RefSeq, Aug 2011]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 13q14.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (49220338..49222377)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (48441643..48443682)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (49794474..49796513)

Chromosome 13 - NC_000013.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Motilin Receptor Expression Found in the Human Main and Accessory Lacrimal Glands.
Title: Motilin Receptor Expression Found in the Human Main and Accessory Lacrimal Glands.
human motilin receptor transgenic (Tg) mice were tested with experiments evaluating the effects of motilin, erythromycin (EM), and ghrelin.
Title: Effects of Motilin Receptor Agonists and Ghrelin in Human motilin receptor Transgenic Mice.
data support important roles of new regions in the TM domains of the motilin receptor for erythromycin action, suggesting differential mechanisms of actions by peptidyl and non-peptidyl ligands
Title: Critical residues in the transmembrane helical bundle domains of the human motilin receptor for erythromycin binding and activity.
The data suggested that in species expressing both motilin-MR and ghrelin-GHSR, there is a compensatory relationship in vivo.
Title: A relationship between motilin and growth hormone secretagogue receptors.
Observational study of gene-disease association. (HuGE Navigator)
Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
Desensitization and internalization of MLNR is independent of the C-terminal tail.
Title: Desensitization and internalization of the human motilin receptor is independent of the C-terminal tail.
The motilin receptor is expressed in human colonic and ileal smooth muscle. Further, motilin receptor expression was also shown in the mucosa.
Title: Motilin receptor expression in smooth muscle, myenteric plexus, and mucosa of human inflamed and noninflamed intestine.
action by different chemical classes of agonists that are known to interact with distinct regions of the motilin receptor likely yield a common activation state of the cytosolic face of this receptor
Title: Mutational analysis of predicted intracellular loop domains of human motilin receptor.
motilin receptor extracellular domains have roles in peptide and non-peptidyl agonist binding and activity
Title: Differential contributions of motilin receptor extracellular domains for peptide and non-peptidyl agonist binding and activity.
The motilin pharmacophore in CHO cells expressing the human motilin receptor
Title: The motilin pharmacophore in CHO cells expressing the human motilin receptor.

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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

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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Markers

NoName (e-PCR)
- UniSTS:481164

GPR38_2830 (e-PCR)
- UniSTS:468447

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled peptide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled peptide receptor activity	IPI Inferred from Physical Interaction more info	PubMed
enables hormone 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

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: motilin receptor

Names: G protein-coupled receptor 38

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.