MLN motilin [Homo sapiens (human)] - Gene

Summary

Official Symbol: MLNprovided by HGNC
Official Full Name: motilinprovided by HGNC
Primary source: HGNC:HGNC:7141
See related: Ensembl:ENSG00000096395 MIM:158270; AllianceGenome:HGNC:7141
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: This gene encodes a small peptide hormone that is secreted by cells of the small intestine to regulate gastrointestinal contractions and motility. Proteolytic processing of the secreted protein produces the mature peptide and a byproduct referred to as motilin-associated peptide (MAP). Three transcript variants encoding different preproprotein isoforms but the same mature peptide have been found for this gene. [provided by RefSeq, May 2010]
Expression: Restricted expression toward duodenum (RPKM 82.5) See more
Orthologs: all
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Genomic context

Location:: 6p21.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (33794673..33804003, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (33615853..33625183, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (33762450..33771780, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Serotonin, ghrelin, and motilin gene/receptor/transporter polymorphisms in childhood functional constipation.
Title: Serotonin, ghrelin, and motilin gene/receptor/transporter polymorphisms in childhood functional constipation.
Physiological functions and potential clinical applications of motilin.
Title: Physiological functions and potential clinical applications of motilin.
Serum motilin levels and motilin gene polymorphisms in children with functional constipation.
Title: Serum motilin levels and motilin gene polymorphisms in children with functional constipation.
Hemodialysis improves upper GI symptoms and gastric slow waves in CKD patients. An increase in ghrelin and a decrease in GLP-1 might be involved in the HD-induced improvement in gastric slow waves.
Title: Circulating motilin, ghrelin, and GLP-1 and their correlations with gastric slow waves in patients with chronic kidney disease.
motilin-induced phase III contractions signal hunger in healthy subjects and that this system is disturbed in morbidly obese patients--{REVIEW}
Title: Redefining the functional roles of the gastrointestinal migrating motor complex and motilin in small bacterial overgrowth and hunger signaling.
Motilin stimulates growth hormone secretion and regulates interdigestive migrating contractions and fasting motor patterns in the gastrointestinal tract. [REVIEW]
Title: Ghrelin and motilin in the gastrointestinal system.
Motilin may directly influence adipocyte functions by stimulating energy storage.
Title: Motilin stimulates preadipocyte proliferation and differentiation and adipocyte lipid storage.
Ghrelin covaried with motilin in plasma in irritable bowel syndrome (IBS) but not in plasma from healthy subjects. This suggests the two peptides act together in IBS.
Title: Covariation of plasma ghrelin and motilin in irritable bowel syndrome.
About 35.9% of the patients with a T tube after cholecystectomy and choledochotomy have duodenal-biliary reflux. Most of them have sphincter of Oddi hypomotility and the decreased level of plasma motilin and serum gastrin.
Title: Sphincter of Oddi hypomotility and its relationship with duodenal-biliary reflux, plasma motilin and serum gastrin.
The abnormal excretion of hormonal factors is closely related to gallstone formation
Title: Differences and significance of motilin, vasoactive intestinal peptide and gastrin in blood and gallbladder tissues of patients with gallstones.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Common body mass index-associated variants confer risk of extreme obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variants associate with serum phosphorus concentration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of age-at-onset in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
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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Markers

GDB:555843 (e-PCR)
- UniSTS:157699

GDB:555847 (e-PCR)
- UniSTS:157700

PMC310739P3 (e-PCR)
- UniSTS:272666

NoName (e-PCR)
- UniSTS:482404

MLN (e-PCR)
- UniSTS:479941

SHGC-83372 (e-PCR)
- UniSTS:101062

NoName (e-PCR)
- UniSTS:490449

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables motilin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables motilin receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: promotilin

Names: prepromotilin

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_001040109.2 → NP_001035198.1 promotilin isoform 2 preproprotein

See identical proteins and their annotated locations for NP_001035198.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter preproprotein (isoform 2) but not affecting the mature peptide.

Source sequence(s)

AW014210, BC069675, Y00695

Consensus CDS

CCDS47412.1

UniProtKB/Swiss-Prot

P12872

Related

ENSP00000266003.5, ENST00000266003.9

Conserved Domains (2) summary

pfam04643
Location:62 → 114

Motilin_assoc; Motilin/ghrelin-associated peptide

pfam04644
Location:28 → 53

Motilin_ghrelin; Motilin/ghrelin
NM_001184698.2 → NP_001171627.1 promotilin isoform 3 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL138889, AL158049, BC143981, Y00695

Consensus CDS

CCDS54993.1

UniProtKB/Swiss-Prot

P12872

Related

ENSP00000425467.1, ENST00000507738.1

Conserved Domains (2) summary

pfam04643
Location:62 → 105

Motilin_assoc; Motilin/ghrelin-associated peptide

pfam04644
Location:28 → 53

Motilin_ghrelin; Motilin/ghrelin
NM_002418.3 → NP_002409.1 promotilin isoform 1 preproprotein

See identical proteins and their annotated locations for NP_002409.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL158049, BC069675, Y00695

Consensus CDS

CCDS4786.1

UniProtKB/Swiss-Prot

B7ZLR7, E9PDN2, J3KN51, P12872, Q2M1L2, Q5T975, Q6NSY7

Related

ENSP00000388825.2, ENST00000430124.7

Conserved Domains (2) summary

pfam04643
Location:62 → 113

Motilin_assoc; Motilin/ghrelin-associated peptide

pfam04644
Location:28 → 53

Motilin_ghrelin; Motilin/ghrelin