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Mucolipin 1 (MCOLN1) (C-Term) antibody

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Synonyms mcoln1, mcoln1.1, zgc:63619, mln1, mucolipin-1, MCOLN1, MG-2, ML4, MLIV, MST080, TRP-ML1, TRPM-L1, TRPML1, 2210015I05Rik, mucolipidin
(21), (13), (6), (5), (2), (2), (1), (1), (1), (1)
(33), (9), (8), (4), (1)
(30), (2), (1), (1)
(2), (2), (2), (2), (2), (2), (1), (1), (1)
Immunohistochemistry (IHC), Western Blotting (WB)
(32), (17), (13), (3)
Pubmed 10 references available
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Quantity 100 μL
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Immunogen A synthetic peptide from the c-terminal region of isoforms 1, 2 of human Mucolipin 1 (Mcoln1, MCLN1) conjugated to an immunogenic carrier protein was used as the antigen.
Specificity Specific for Mucolipin 1, isoforms 1 and 2.
Purification Whole serum
Alternative Name Mucolipin 1 (MCOLN1 Antibody Abstract)
Background Function: Cationic 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.
Subunit: Forms multimeric complexes.
Subcellular location: Cell membrane, Multi-pass membrane protein. Late endosome membrane, Multi-pass membrane protein. Lysosome membrane, Multi-pass membrane protein.
Tissue specificity: Widely expressed in adult and fetal tissues. DISEASE: 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.
Miscellaneous: Channel function is transiently modulated by changes in Ca(2+), and inhibited by a reduction of pH, pH changes modify the aggregation state of unitary channels Also known as:Mucolipin-1, Mucolipidin, Mcoln1,Mucolipin 1, Mcoln1, MCLN1, TRPML1, MGC7172, mucolipidin, 2210015I05Rik,Mucolipin-1, MG-2, ML4, MSTP080, MLIV, TRP-ML1, TRPM-L1, MCOLN1Mucolipin 1.
Research Area Signaling
Application Notes A dilution of 1: 300 to 1: 2000 is recommended.
The optimal dilution should be determined by the end user.
Not yet tested in other applications.
Restrictions For Research Use only
Format Lyophilized
Reconstitution Reconstitute in 500 µL of sterile water. Centrifuge to remove any insoluble material.
Handling Advice Avoid freeze and thaw cycles.
Storage 4 °C/-20 °C
Storage Comment Maintain the lyophilised/reconstituted antibodies frozen at -20°C for long term storage and refrigerated at 2-8°C for a shorter term. When reconstituting, glycerol (1:1) may be added for an additional stability. Avoid freeze and thaw cycles.
Expiry Date 12 months
Background publications Lee, Xu, Chen et al.: "Mitochondrial phosphoproteome revealed by an improved IMAC method and MS/MS/MS." in: Molecular & cellular proteomics : MCP, Vol. 6, Issue 4, pp. 669-76, 2007 (PubMed).

Munton, Tweedie-Cullen, Livingstone-Zatchej et al.: "Qualitative and quantitative analyses of protein phosphorylation in naive and stimulated mouse synaptosomal preparations." in: Molecular & cellular proteomics : MCP, Vol. 6, Issue 2, pp. 283-93, 2007 (PubMed).

Carninci, Kasukawa, Katayama et al.: "The transcriptional landscape of the mammalian genome. ..." in: Science (New York, N.Y.), Vol. 309, Issue 5740, pp. 1559-63, 2005 (PubMed).

Ballif, Villén, Beausoleil et al.: "Phosphoproteomic analysis of the developing mouse brain." in: Molecular & cellular proteomics : MCP, Vol. 3, Issue 11, pp. 1093-101, 2004 (PubMed).

Ota, Suzuki, Nishikawa et al.: "Complete sequencing and characterization of 21,243 full-length human cDNAs. ..." in: Nature genetics, Vol. 36, Issue 1, pp. 40-5, 2003 (PubMed).

LaPlante, Falardeau, Sun et al.: "Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway." in: FEBS letters, Vol. 532, Issue 1-2, pp. 183-7, 2002 (PubMed).

Falardeau, Kennedy, Acierno et al.: "Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans." in: BMC genomics, Vol. 3, Issue 1, pp. 3, 2003 (PubMed).

Sun, Goldin, Stahl et al.: "Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel." in: Human molecular genetics, Vol. 9, Issue 17, pp. 2471-8, 2000 (PubMed).

Bassi, Manzoni, Monti 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." in: American journal of human genetics, Vol. 67, Issue 5, pp. 1110-20, 2000 (PubMed).

Bargal, Avidan, Ben-Asher et al.: "Identification of the gene causing mucolipidosis type IV." in: Nature genetics, Vol. 26, Issue 1, pp. 118-23, 2000 (PubMed).

Catalog No. ABIN350482
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