Product Details

Target Names

Mcoln3

Uniprot No.

Q8R4F0

Alternative Names

Mcoln3; Mucolipin-3; Transient receptor potential channel mucolipin 3; TRPML3

Species

Mus musculus (Mouse)

Expression Region

1-553

Target Protein Sequence

MANPEVLVSSCRARQDESPCTFHPSSSPSEQLLLEDQMRRKLKFFFMNPCEKFWARGRKP WKLAIQILKIAMVTIQLVLFGLSNQMVVAFKEENTIAFKHLFLKGYMDRMDDTYAVYTQS EVYDQIIFAVTQYLQLQNISVGNHAYENKGTKQSAMAICQHFYRQGTICPGNDTFDIDPE VETECFLVEPDEASHLGTPGENKLNLSLDFHRLLTVELQFKLKAINLQTVRHQELPDCYD FTLTITFDNKAHSGRIKISLDNDISIKECKDWHVSGSIQKNTHYMMIFDAFVILTCLASL VLCARSVIRGLQLQQEFVNFFLLHYKKEVSASDQMEFINGWYIMIIISDILTIVGSVLKM EIQAKSLTSYDVCSILLGTSTMLVWLGVIRYLGFFAKYNLLILTLQAALPNVMRFCCCAA MIYLGYCFCGWIVLGPYHEKFRSLNRVSECLFSLINGDDMFSTFAKMQQKSYLVWLFSRV YLYSFISLFIYMILSLFIALITDTYETIKHYQQDGFPETELRKFIAECKDLPNSGKYRLE DDPPGSLLCCCKK

Protein Length

full length protein

Tag Info

Tag type will be determined during the manufacturing process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.

Form

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer before Lyophilization

Tris/PBS-based buffer, 6% Trehalose, pH 8.0

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet

Please contact us to get it.

Target Background

Function

Nonselective ligand-gated cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity. Mediates release of Ca(2+) from endosomes to the cytoplasm, contributes to endosomal acidification and is involved in the regulation of membrane trafficking and fusion in the endosomal pathway. Does not seem to act as mechanosensory transduction channel in inner ear sensory hair cells. Proposed to play a critical role at the cochlear stereocilia ankle-link region during hair-bundle growth. Involved in the regulation of autophagy. Through association with GABARAPL2 may be involved in autophagosome formation possibly providing Ca(2+) for the fusion process. Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events. Possible heteromeric ion channel assemblies with TRPV5 show pharmacological similarity with TRPML3.

Gene References into Functions

Study shows that, when uropathogenic E. coli infect bladder epithelial cells, they are targeted by autophagy but avoid degradation because of their capacity to neutralize lysosomal pH. This change is detected by TRPML3, TRPML3 activation then spontaneously initiates lysosome exocytosis, resulting in expulsion of exosome-encased bacteria. PMID: 26027738
Trpml3 inactivation does not lead to hearing and vestibular impairment in mice PMID: 21179200
Results describe the expression and subcellular distribution of TRPML3 in the inner ear as well as in other sensory organs. PMID: 21344404
prominent role for MCOLN3 in regulating Ca(2+) homeostasis at the endosomal pathway PMID: 21245134
Mutations are associated with deafness and pigmentation defects in varitint-waddler (Va) mice PMID: 12403827
TRPML3 is critical for stereocilia bundle formation during development and may function during endocytosis or exocytosis. PMID: 17329082
The A419P mutation affects TRPLMe channel glycosylation and causes massive cell death PMID: 17962195
This study provides the first direct mechanistic link of a mutation in a TRPML3 with mammalian hearing loss. PMID: 18048323
TRPML3(A419P) and (I362T+A419P) at physiological potentials may have a role in hair cell degeneration and deafness PMID: 18162548
The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence. (Review) PMID: 18504603
an adverse effect of mutant TRPML3 on bundle development and mechano-electrical transduction is the main cause of hearing loss in Va(J)/+ mutant mice PMID: 18801844
The deaf-waddler isoform of PMCA2, operating at 30% efficacy, showed a significantly decreased ability to rescue the Ca(2+) loading of cells expressing TRPML3(A419P). PMID: 19299509
In animal disease model of neuropathic pain, the TRPML3 showed the most dramatic change. PMID: 19446956

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Involvement in disease

Defects in Mcoln3 are the cause of the varitin-waddler (Va) phenotype. Classical Va mice exhibit early-onset hearing loss, vestibular defects, pigmentation abnormalities and perinatal lethality. The phenotype varitin-waddler Jackcon (Va-J), which arose in a cross segregating for Va, is similar but less severe.

Subcellular Location

Early endosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Cytoplasmic vesicle, autophagosome membrane; Multi-pass membrane protein. Cell projection, stereocilium membrane; Multi-pass membrane protein.

Protein Families

Transient receptor (TC 1.A.4) family, Polycystin subfamily, MCOLN3 sub-subfamily

Tissue Specificity

Expressed in the cochlea; particularly in the inner and outer hair cells (at protein level).

Database Links

KEGG: mmu:171166

STRING: 10090.ENSMUSP00000038801

UniGene: Mm.114683

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Code	CSB-CF823183MO
MSDS	MSDS
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Source	in vitro E.coli expression system
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Recombinant Mouse Mucolipin-3 (Mcoln3)

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