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MCOLN1 Antibody (C-term)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application 
| WB, IHC-P, E |
|---|---|
| Primary Accession | Q9GZU1 |
| Other Accession | Q99J21, Q60HE8, NP_065394.1 |
| Reactivity | Human |
| Predicted | Monkey, Mouse |
| Host | Rabbit |
| Clonality | Polyclonal |
| Isotype | Rabbit IgG |
| Calculated MW | 65022 Da |
| Antigen Region | 531-560 aa |
| Gene ID | 57192 |
|---|---|
| Other Names | Mucolipin-1, MG-2, Mucolipidin, MCOLN1, ML4 |
| Target/Specificity | This MCOLN1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 531-560 amino acids from the C-terminal region of human MCOLN1. |
| Dilution | WB~~1:1000 IHC-P~~1:10~50 |
| Format | Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification. |
| Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
| Precautions | MCOLN1 Antibody (C-term) is for research use only and not for use in diagnostic or therapeutic procedures. |
| Name | MCOLN1 {ECO:0000303|PubMed:25720963, ECO:0000312|HGNC:HGNC:13356} |
|---|---|
| Function | Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis (PubMed:11013137, PubMed:12459486, PubMed:15336987, PubMed:14749347, PubMed:29019983, PubMed:27623384). Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important 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:25720963, PubMed:29019983, PubMed:27623384). Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (By similarity). Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission events (PubMed:16978393). By mediating lysosomal Ca(2+) release is involved in regulation of mTORC1 signaling and in mTOR/TFEB-dependent lysosomal adaptation to environmental cues such as nutrient levels (PubMed:25720963, PubMed:25733853, PubMed:27787197). Seems to act as lysosomal active oxygen species (ROS) sensor involved in ROS-induced TFEB activation and autophagy (PubMed:27357649). Functions as a Fe(2+) permeable channel in late endosomes and lysosomes (PubMed:18794901). Proposed to play a role in zinc homeostasis probably implicating its association with TMEM163 (PubMed:25130899) In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). |
| Cellular Location | Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Cell projection, phagocytic cup {ECO:0000250|UniProtKB:Q99J21}. Cytoplasmic vesicle, phagosome membrane {ECO:0000250|UniProtKB:Q99J21}; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=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 cell membrane (PubMed:12459486, PubMed:18794901, PubMed:28112729, PubMed:29019983) |
| Tissue Location | Widely expressed in adult and fetal tissues. |
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Background
This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV.
References
Eichelsdoerfer, J.L., et al. J. Biol. Chem. 285(45):34304-34308(2010)
Curcio-Morelli, C., et al. J. Cell. Physiol. 222(2):328-335(2010)
Vergarajauregui, S., et al. J. Biol. Chem. 284(52):36357-36366(2009)
Ballif, B.A., et al. Mol. Cell Proteomics 3(11):1093-1101(2004)
LaPlante, J.M., et al. FEBS Lett. 532 (1-2), 183-187 (2002) :
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