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MLN motilin [ Homo sapiens (human) ]

Gene ID: 4295, updated on 17-Jun-2019

Summary

Official Symbol
MLNprovided by HGNC
Official Full Name
motilinprovided by HGNC
Primary source
HGNC:HGNC:7141
See related
Ensembl:ENSG00000096395 MIM:158270
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

Genomic context

See MLN in Genome Data Viewer
Location:
6p21.31
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (33794673..33804003, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33762449..33771793, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene inositol hexakisphosphate kinase 3 Neighboring gene LEM domain containing 2 Neighboring gene uncharacterized LOC105375024 Neighboring gene uncharacterized LOC105375025 Neighboring gene uncharacterized LOC105375027

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common body mass index-associated variants confer risk of extreme obesity.
NHGRI GWA Catalog
Common genetic variants associate with serum phosphorus concentration.
NHGRI GWA Catalog
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
NHGRI GWA Catalog
Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
  • 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...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138519

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hormone activity IEA
Inferred from Electronic Annotation
more info
 
motilin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
motilin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
smooth muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
promotilin
Names
prepromotilin

NCBI Reference Sequences (RefSeq)

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_001040109.2NP_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:62114
    Motilin_assoc; Motilin/ghrelin-associated peptide
    pfam04644
    Location:2853
    Motilin_ghrelin; Motilin/ghrelin
  2. NM_001184698.2NP_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:62105
    Motilin_assoc; Motilin/ghrelin-associated peptide
    pfam04644
    Location:2853
    Motilin_ghrelin; Motilin/ghrelin
  3. NM_002418.3NP_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
    P12872
    Related
    ENSP00000388825.2, ENST00000430124.7
    Conserved Domains (2) summary
    pfam04643
    Location:62113
    Motilin_assoc; Motilin/ghrelin-associated peptide
    pfam04644
    Location:2853
    Motilin_ghrelin; Motilin/ghrelin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    33794673..33804003 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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