Rabbit MCOLN1 Polyclonal Antibody | anti-MCOLN1 antibody

MCOLN1 Antibody (C-term)

Cat. Num. AAA9205163

• Gene Names: MCOLN1; ML4; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1
• Reactivity: Human (Predicted Reactivity: Monkey, Mouse)
• Applications: Western Blot, Immunohistochemistry, ELISA
• Purity: Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)
• Synonyms: MCOLN1; Polyclonal Antibody; MCOLN1 Antibody (C-term); Mucolipin-1; MG-2; Mucolipidin; ML4; anti-MCOLN1 antibody

• Host: Rabbit
• Reactivity: Human (Predicted Reactivity: Monkey, Mouse)
• Clonality: Polyclonal
• Isotype: Rabbit Ig
• 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.
• Purity/Purification: Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)
• Form/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.
• Sequence Positions: 531-560
• Sequence Length: 580

• Applicable Applications for anti-MCOLN1 antibody: Western Blot (WB), Immunohistochemistry-Paraffin (IHC-P), ELISA
• Application Notes: WB~~1:1000; IHC-P~~1:10~50
• Antigen Region: 531-560
• 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 (PubMed:11013137, PubMed:12459486, PubMed:15336987, PubMed:14749347, 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:27787197, PubMed:25733853). 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: Cell membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.
• Tissue Location: Widely expressed in adult and fetal tissues.
• Preparation and 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.

Western Blot (WB)

(MCOLN1 Antibody (C-term) western blot analysis in Jurkat cell line lysates (35ug/lane).This demonstrates the MCOLN1 antibody detected the MCOLN1 protein (arrow).)

Immunohistochemistry (IHC)

(MCOLN1 Antibody (C-term) (MBS9205163)immunohistochemistry analysis in formalin fixed and paraffin embedded human kidney tissue followed by peroxidase conjugation of the secondary antibody and DAB staining.This data demonstrates the use of MCOLN1 Antibody (C-term) for immunohistochemistry. Clinical relevance has not been evaluated.)

Related Product Information for anti-MCOLN1 antibody

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.

Product Categories/Family for anti-MCOLN1 antibody

Signal Transduction

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) :

NCBI and Uniprot Product Information

• NCBI GI #: 10092597
• NCBI GeneID: 57192
• NCBI Accession #: NP_065394.1
• NCBI GenBank Nucleotide #: NM_020533.2
• UniProt Accession #: Q9GZU1; Q7Z4F7; Q9H292; Q9H4B3; Q9H4B5; D6W647
• Molecular Weight: 65022
• NCBI Official Full Name: mucolipin-1
• NCBI Official Synonym Full Names: mucolipin 1
• NCBI Official Symbol: MCOLN1
• NCBI Official Synonym Symbols: ML4; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1
• NCBI Protein Information: mucolipin-1
• UniProt Protein Name: Mucolipin-1
• Protein Family: Mucolipin
• UniProt Gene Name: MCOLN1
• UniProt Synonym Gene Names: ML4
• UniProt Entry Name: MCLN1_HUMAN

NCBI Description

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. [provided by RefSeq, Oct 2009]

Uniprot Description

mucolipin 1: Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis. Defects in MCOLN1 are the cause of mucolipidosis type IV (MLIV); also known as sialolipidosis. MLIV is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels. MLIV may be due to a defect in sorting and/or transport along the late endocytic pathway. MLIV is found at relatively high frequency among Ashkenazi Jews. Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily.

Protein type: Channel, cation; Membrane protein, integral; Membrane protein, multi-pass; Transporter, ion channel

Chromosomal Location of Human Ortholog: 19p13.2

Cellular Component: late endosome membrane; lysosomal membrane; integral to plasma membrane; cytoplasm; integral to membrane; plasma membrane; endosome membrane; receptor complex

Molecular Function: cation channel activity

Biological Process: cellular iron ion homeostasis; release of sequestered calcium ion into cytosol; transferrin transport; transmembrane transport; cation transport

Disease: Mucolipidosis Iv