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Mucolipin 1 (MCOLN1)

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TRPML1; MLIV; ML4; MG-2; Mucolipidin; Transient Receptor Potential Cation Channel,Mucolipin Subfamily,Member 1

Mucolipin 1 (MCOLN1)
CCC G506
HGNC 13356
MGI 1890498
PubMed 23585356
RGD 1308953
UniProt Q9GZU1
Wiki MCOLN1
TRPML1 is a 65 kDa protein associated with mucolipidosis type IV. It's predicted structure includes six transmembrane domains, a transient receptor potential (TRP) cation-channel domain, and an internal channel pore. TRPML1 is believed to channel iron ions across the endosome membrane into the cell and so its malfunction causes cellular iron deficiency.
The 65-kD protein contains a transient receptor potential (TRP) cation channel domain and an internal calcium and sodium channel pore region. The TRP domain spans transmembrane segments 3-6, with the putative pore-forming loop between the fifth and sixth segments. There is also a dileucine motif at the C terminus which may serve as a late endosomal/lysosomal targeting motif. The protein is predicted to have both the N- and C-termini within the cytoplasm.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Mucolipin 1 (MCOLN1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Mucolipin 1 (MCOLN1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Mucolipin 1 (MCOLN1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Mucolipin 1 (MCOLN1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Mucolipin 1 (MCOLN1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Mucolipin 1 (MCOLN1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Mucolipin 1 (MCOLN1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Mucolipin 1 (MCOLN1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Mucolipin 1 (MCOLN1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Mucolipin 1 (MCOLN1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Mucolipin 1 (MCOLN1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Mucolipin 1 (MCOLN1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Mucolipin 1 (MCOLN1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Mucolipin 1 (MCOLN1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Mucolipin 1 (MCOLN1) ELISA Kit Customized Service Offer
  1. "Cloning of the gene encoding a novel integral membrane protein, mucolipidin, and identification of the two major founder mutations causing mucolipidosis type IV."Am. J. Hum. Genet. 67:1110-1120(2000) [PubMed] [Europe PMC] [Abstract]
  2. "Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel."Hum. Mol. Genet. 9:2471-2478(2000) [PubMed] [Europe PMC] [Abstract]
  3. "Identification of the gene causing mucolipidosis type IV."Nat. Genet. 26:118-123(2000) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway."FEBS Lett. 532:183-187(2002) [PubMed] [Europe PMC] [Abstract]
  7. "Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization."FEBS Lett. 567:219-224(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel."Hum. Mol. Genet. 13:617-627(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Integral and associated lysosomal membrane proteins."Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
  10. "Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1."J. Biol. Chem. 284:36357-36366(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  12. "Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population."Hum. Mutat. 17:397-402(2001) [PubMed] [Europe PMC] [Abstract]
  13. "The neurogenetics of mucolipidosis type IV."Neurology 59:306-313(2002) [PubMed] [Europe PMC] [Abstract]
  14. "Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV."Hum. Mutat. 24:460-465(2004) [PubMed] [Europe PMC] [Abstract]
  15. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]