Recombinant Human Mucolipin-1(MCOLN1)

Code CSB-CF872417HU
Product Type Transmembrane Protein
Size Pls inquiry other sizes
Uniprot No. Q9GZU1
Storage Buffer Tris-based buffer,50% glycerol
Species Homo sapiens (Human)
Sequence MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKG RKPCKLMLQVVKILVVTVQLILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAY TREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDPWTNGSGLALCQRYYHRGHVDPAND TFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIHFRLKTI NLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLL FDVVVILTCSLSFLLCARSLLRGFLLQNEFVGFMWRQRGRVISLWERLEFVNGWYILLVT SDVLTISGTIMKIGIEAKNLASYDVCSILLGTSTLLVWVGVIRYLTFFHNYNILIATLRV ALPSVMRFCCCVAVIYLGYCFCGWIVLGPYHVKFRSLSMVSECLFSLINGDDMFVTFAAM QAQQGRSSLVWLFSQLYLYSFISLFIYMVLSLFIALITGAYDTIKHPGGAGAEESELQAY IAQCQDSPTSGKFRRGSGSACSLLCCCGRDPSEEHSLLVN
Source in vitro E.coli expression system
Gene Names MCOLN1
Protein Names Recommended name: Mucolipin-1 Alternative name(s): MG-2 Mucolipidin
Expression Region 1-580
Tag Info N-terminal 10xHis-tagged
Protein Description full length protein
Storage Store at -20°C, for extended storage, conserve at -20°C or -80°C.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
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Function Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis. 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
Involvement in disease Mucolipidosis 4 (ML4)
Subcellular 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, Cytoplasmic vesicle, phagosome membrane, Multi-pass membrane protein, Cell membrane, Multi-pass membrane protein
Protein Families Transient receptor (TC 1.A.4) family, Polycystin subfamily, MCOLN1 sub-subfamily
Tissue Specificity Widely expressed in adult and fetal tissues.
Database Links

HGNC: 13356

OMIM: 252650

KEGG: hsa:57192

STRING: 9606.ENSP00000264079

UniGene: Hs.631858

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