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Mucolipin-1 Antibodies
AND MCOLN1 ELISA kits, Mucolipin-1 Proteins
Many biological assays use antibodies to detect Mucolipin-1, such as Western Blot (WB), ELISA, Flow Cytometry, Immunocytochemistry (IHC). These antibodies can be polyclonal or monoclonal, and react with Mucolipin-1 in Human, Mouse, Rat, and many other animal samples. Boster Bio use mainly mouse and rabbit to develop Mucolipin-1 antibodies...
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MCOLN1 Overview
Facts about Mucolipin-1.
Mucolipin-1 (MCOLN1)
Proposed to play a significant role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which can be essential for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy (PubMed:11013137, PubMed:12459486, PubMed:15336987, PubMed:14749347, PubMed:29019983). Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis.
May also play a part in phagosome-lysosome fusion (By similarity). Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission occasions (PubMed:16978393).
Gene Information
| Human | |
|---|---|
| Gene Name: | MCOLN1 |
| Uniprot: | Q9GZU1 |
| Entrez: | 57192 |
Family
| Belongs to: |
|---|
| transient receptor (TC 1.A.4) family |
Alternative Names
MG-2; ML4TRP-ML1; MLIV; MST080; MSTP080; mucolipidin; mucolipidosis type IV protein; mucolipin 1; mucolipin-1; TRPML1; TRP-ML1; TRPM-L1
Molecular Weight
Mass (kDA):
65.022 kDA
Genomic Context
| Human | |
|---|---|
| Location: | 19p13.2 |
| Sequence: | 19; NC_000019.10 (7522624..7534009) |
Tissue Specificity
Widely expressed in adult and fetal tissues.
Subcellular Localizations
Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Cell projection, phagocytic cup. Cytoplasmic vesicle, phagosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Delivery from the trans-Golgi to lysosomes seems to occur mainly in a direct intracellular manner without intermediate delivery to the plasma membrane (PubMed:16497227). Under normal conditions, restricted to intracellular compartments so that only a very minor proportion is present at the ce
Diseases
- Mucolipidoses
- Mucolipidosis Type Iv
- Lysosomal Storage Diseases
- Storage Disease
- Retinal Degeneration
- Neurodegenerative Disorders
- Achlorhydria
- Abnormal Degeneration
- Nerve Degeneration
- Strabismus
- Visual Impairment
- Nervous System Disorder
Pathways
- Transport
- Localization
- Pathogenesis
- Endocytosis
- Autophagy
- Cell Death
- Exocytosis
- Lipid Storage
- Membrane Fusion
- Macroautophagy
- Cellular Localization
- Rna Interference
- Secretion
PTMs
- Cleavage
- Palmitoylation
Research Areas
- Cell Biology
- Neuroscience
- Sensory Systems
- Signal Transduction
- Vision
For details, visit:
bosterbio.com/bosterbio-gene-info-cards/MCOLN1
bosterbio.com/bosterbio-gene-info-cards/MCOLN1
References
PMID: 11013137 by Bassi M.T., et al. Cloning of the gene encoding a novel integral membrane protein, mucolipidin, and identification of the two major founder mutations causing mucolipidosis type IV.
PMID: 11030752 by Sun M., et al. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.