HGNC Approved Gene Symbol: MLN
Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:33,794,673-33,804,003 (from NCBI)
Motilin, a 22-amino acid hormone synthesized by cells of the small intestine, regulates interdigestive gastrointestinal contraction. Seino et al. (1987) cloned a cDNA encoding the human motilin precursor from an intestinal cDNA library. The predicted amino acid sequence indicated that the motilin precursor consists of 115 amino acids and includes a 25-residue N-terminal signal peptide followed by the 22-amino acid motilin sequence and a long, 68-residue C-terminal peptide.
Feighner et al. (1999) identified the motilin receptor (602885) in the human gastrointestinal system and found that it is expressed in enteric neurons of the human duodenum and colon.
By Northern blot analysis, Gasparini et al. (1994) detected high levels of a 0.7-kb MLN mRNA transcript in cells containing cilia, including bronchoepithelial cells.
Daikh et al. (1989) showed that the motilin gene consists of 5 exons spanning approximately 9 kb of genomic DNA. Exon 1 encodes the 5-prime untranslated portion of the motilin mRNA. Exons 2 and 3 encode the signal peptide and the 22-amino acid motilin peptide.
By a combination of Southern analysis of somatic cell hybrids and in situ hybridization, Fan et al. (1989) assigned the MLN gene to 6p21.2.
Gasparini et al. (1994) showed that MLN is tightly linked to the HLA-DQ-alpha locus (HLA-DQA1; 146880). They excluded mutations in the MLN gene as a cause of primary ciliary dyskinesia (CILD1; 244400) in a family that had shown linkage to chromosome 6p21.
Daikh, D. I., Douglass, J. O., Adelman, J. P. Structure and expression of the human motilin gene. DNA 8: 615-621, 1989. [PubMed: 2574660] [Full Text: https://doi.org/10.1089/dna.1989.8.615]
Fan, Y.-S., Eddy, R. L., Byers, M. G., Haley, L. L., Henry, W. M., Yano, H., Seino, Y., Fujita, J., Yamada, Y., Inagaki, N., Takeda, J., Imura, H., Bell, G. I., Shows, T. B. Localization of the human motilin gene (MLN) to chromosome 6p21.2. (Abstract) Cytogenet. Cell Genet. 51: 977 only, 1989.
Feighner, S. D., Tan, C. P., McKee, K. K., Palyha, O. C., Hreniuk, D. L., Pong, S.-S., Austin, C. P., Figueroa, D., MacNeil, D., Cascieri, M. A., Nargund, R., Bakshi, R., Abramovitz, M., Stocco, R., Kargman, S., O'Neill, G., Van Der Ploeg, L. H. T., Evans, J., Patchett, A. A., Smith, R. G., Howard, A. D. Receptor for motilin identified in the human gastrointestinal system. Science 284: 2184-2188, 1999. [PubMed: 10381885] [Full Text: https://doi.org/10.1126/science.284.5423.2184]
Gasparini, P., Grifa, A., Savasta, S., Merlo, I., Bisceglia, L., Totaro, A., Zelante, L. The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome. Hum. Genet. 94: 671-674, 1994. [PubMed: 7989042] [Full Text: https://doi.org/10.1007/BF00206962]
Seino, Y., Tanaka, K., Takeda, J., Takahashi, H., Mitani, T., Kurono, M., Kayano, T., Koh, G., Fukumoto, H., Yano, H., Fujita, J., Inagaki, N., Yamada, Y., Imura, H. Sequence of an intestinal cDNA encoding human motilin precursor. FEBS Lett. 223: 74-76, 1987. [PubMed: 3666144] [Full Text: https://doi.org/10.1016/0014-5793(87)80512-4]