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    MLN motilin [ Homo sapiens (human) ]

    Gene ID: 4295, updated on 2-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MLN in Genome Data Viewer
    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_000006.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:33692274-33693024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33695430-33696209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33696210-33696988 Neighboring gene inositol hexakisphosphate kinase 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:33703405-33703659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33710674-33711363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33711622-33712515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33712516-33713408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33713409-33714302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33718585-33719144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33719703-33720261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33728947-33729550 Neighboring gene Sharpr-MPRA regulatory region 8162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33740622-33741320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33747376-33748316 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33748317-33749256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33750197-33751135 Neighboring gene LEM domain nuclear envelope protein 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:33755871-33756420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24369 Neighboring gene uncharacterized LOC105375024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33758333-33758936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33775949-33776449 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:33778261-33779022 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:33779784-33780545 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33780546-33781306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33786695-33787196 Neighboring gene uncharacterized LOC105375025 Neighboring gene Sharpr-MPRA regulatory region 9014 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:33807424-33808623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33808663-33809597 Neighboring gene uncharacterized LOC124901306

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common body mass index-associated variants confer risk of extreme obesity.
    EBI GWAS Catalog
    Common genetic variants associate with serum phosphorus concentration.
    EBI GWAS Catalog
    Genome-wide association analysis of age-at-onset in Alzheimer's disease.
    EBI GWAS 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.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138519

    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

    Preferred Names
    promotilin
    Names
    prepromotilin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B7ZLR7, E9PDN2, J3KN51, P12872, Q2M1L2, Q5T975, Q6NSY7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      33615853..33625183 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)