Human Gene MLN (ENST00000430124.7) from GENCODE V44
  Description: Homo sapiens motilin (MLN), transcript variant 1, mRNA. (from RefSeq NM_002418)
RefSeq Summary (NM_002418): 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].
Gencode Transcript: ENST00000430124.7
Gencode Gene: ENSG00000096395.11
Transcript (Including UTRs)
   Position: hg38 chr6:33,794,673-33,804,003 Size: 9,331 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr6:33,794,825-33,801,163 Size: 6,339 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:33,794,673-33,804,003)mRNA (may differ from genome)Protein (115 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MOTI_HUMAN
DESCRIPTION: RecName: Full=Promotilin; Contains: RecName: Full=Motilin; Contains: RecName: Full=Motilin-associated peptide; Short=MAP; Flags: Precursor;
FUNCTION: Plays an important role in the regulation of interdigestive gastrointestinal motility and indirectly causes rhythmic contraction of duodenal and colonic smooth muscle.
SUBCELLULAR LOCATION: Secreted.
SIMILARITY: Belongs to the motilin family.
WEB RESOURCE: Name=Wikipedia; Note=Motilin entry; URL="http://en.wikipedia.org/wiki/Motilin";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MLN
Diseases sorted by gene-association score: gastroparesis (37), duodenogastric reflux (7), retinitis pigmentosa 69 (5), systemic scleroderma (4), constipation (4), irritable bowel syndrome (3), gastrointestinal system disease (3), functional gastric disease (2), stomach disease (2), pylorospasm (2), postcholecystectomy syndrome (2), functional colonic disease (1), colonic pseudo-obstruction (1), space motion sickness (1), neuroretinitis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.22 RPKM in Small Intestine - Terminal Ileum
Total median expression: 0.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1.6058-0.028 Picture PostScript Text
3' UTR -50.80152-0.334 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015662 - Motilin
IPR006737 - Motilin_assoc
IPR006738 - Motilin_ghrelin

Pfam Domains:
PF04643 - Motilin/ghrelin-associated peptide
PF04644 - Motilin/ghrelin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1LBJ - NMR


ModBase Predicted Comparative 3D Structure on P12872
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005179 hormone activity
GO:0031788 motilin receptor binding

Biological Process:
GO:0007186 G-protein coupled receptor signaling pathway
GO:0010469 regulation of receptor activity

Cellular Component:
GO:0005576 extracellular region


-  Descriptions from all associated GenBank mRNAs
  E01747 - cDNA encoding human motilin.
Y00695 - Human mRNA for motilin precursor.
BC069675 - Homo sapiens motilin, mRNA (cDNA clone MGC:97389 IMAGE:7262661), complete cds.
JD426040 - Sequence 407064 from Patent EP1572962.
JD369742 - Sequence 350766 from Patent EP1572962.
BC112314 - Homo sapiens motilin, mRNA (cDNA clone MGC:138519 IMAGE:8327782), complete cds.
BC143981 - Homo sapiens cDNA clone MGC:177516 IMAGE:9052499, complete cds.
HQ258057 - Synthetic construct Homo sapiens clone IMAGE:100072366 motilin (MLN) gene, encodes complete protein.
KJ897191 - Synthetic construct Homo sapiens clone ccsbBroadEn_06585 MLN gene, encodes complete protein.
JD068076 - Sequence 49100 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein P12872 (Reactome details) participates in the following event(s):

R-HSA-444208 MLNR (GPR38) is a receptor for motilin
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000430124.1, ENST00000430124.2, ENST00000430124.3, ENST00000430124.4, ENST00000430124.5, ENST00000430124.6, MOTI_HUMAN, NM_002418, P12872, Q2M1L2, Q5T975, Q6NSY7, uc003off.1, uc003off.2, uc003off.3
UCSC ID: ENST00000430124.7
RefSeq Accession: NM_002418
Protein: P12872 (aka MOTI_HUMAN)
CCDS: CCDS4786.1, CCDS47412.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.