Details for: MCOLN1
Associated with
Other Information
Genular Protein ID: 3723265550
Symbol: MCLN1_HUMAN
Name: MG-2
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11013137
Title: Cloning of the gene encoding a novel integral membrane protein, mucolipidin, and identification of the two major founder mutations causing mucolipidosis type IV.
PubMed ID: 11013137
PubMed ID: 11030752
Title: Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.
PubMed ID: 11030752
PubMed ID: 10973263
Title: Identification of the gene causing mucolipidosis type IV.
PubMed ID: 10973263
DOI: 10.1038/79095
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 12459486
Title: Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway.
PubMed ID: 12459486
PubMed ID: 15336987
Title: Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV.
PubMed ID: 15336987
PubMed ID: 15178326
Title: Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.
PubMed ID: 15178326
PubMed ID: 14749347
Title: Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.
PubMed ID: 14749347
DOI: 10.1093/hmg/ddh067
PubMed ID: 16257972
Title: TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage.
PubMed ID: 16257972
PubMed ID: 16497227
Title: Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes.
PubMed ID: 16497227
PubMed ID: 16978393
Title: Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic.
PubMed ID: 16978393
PubMed ID: 17897319
Title: Integral and associated lysosomal membrane proteins.
PubMed ID: 17897319
PubMed ID: 17988215
Title: Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation.
PubMed ID: 17988215
DOI: 10.1042/bj20070713
PubMed ID: 18794901
Title: The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.
PubMed ID: 18794901
DOI: 10.1038/nature07311
PubMed ID: 19864416
Title: Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1.
PubMed ID: 19864416
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 19885840
Title: Functional multimerization of mucolipin channel proteins.
PubMed ID: 19885840
DOI: 10.1002/jcp.21956
PubMed ID: 21256127
Title: The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.
PubMed ID: 21256127
PubMed ID: 21224396
Title: LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV.
PubMed ID: 21224396
DOI: 10.1242/jcs.076240
PubMed ID: 22733759
Title: Phosphoinositide isoforms determine compartment-specific ion channel activity.
PubMed ID: 22733759
PubMed ID: 25130899
Title: Cellular zinc levels are modulated by TRPML1-TMEM163 interaction.
PubMed ID: 25130899
DOI: 10.1111/tra.12205
PubMed ID: 25720963
Title: Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB.
PubMed ID: 25720963
DOI: 10.1038/ncb3114
PubMed ID: 25733853
Title: Up-regulation of lysosomal TRPML1 channels is essential for lysosomal adaptation to nutrient starvation.
PubMed ID: 25733853
PubMed ID: 27623384
Title: PIKfyve Regulates Vacuole Maturation and Nutrient Recovery following Engulfment.
PubMed ID: 27623384
PubMed ID: 27787197
Title: Regulation of mTORC1 by lysosomal calcium and calmodulin.
PubMed ID: 27787197
DOI: 10.7554/elife.19360
PubMed ID: 27357649
Title: MCOLN1 is a ROS sensor in lysosomes that regulates autophagy.
PubMed ID: 27357649
DOI: 10.1038/ncomms12109
PubMed ID: 28112729
Title: Structural basis of dual Ca(2+)/pH regulation of the endolysosomal TRPML1 channel.
PubMed ID: 28112729
DOI: 10.1038/nsmb.3362
PubMed ID: 29019983
Title: Human TRPML1 channel structures in open and closed conformations.
PubMed ID: 29019983
DOI: 10.1038/nature24036
PubMed ID: 11317355
Title: Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
PubMed ID: 11317355
DOI: 10.1002/humu.1115
PubMed ID: 12182165
PubMed ID: 15523648
Title: Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.
PubMed ID: 15523648
DOI: 10.1002/humu.20094
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
Sequence Information:
- Length: 580
- Mass: 65022
- Checksum: 7E7691F58D01C804
- Sequence:
MTAPAGPRGS ETERLLTPNP GYGTQAGPSP APPTPPEEED LRRRLKYFFM SPCDKFRAKG RKPCKLMLQV VKILVVTVQL ILFGLSNQLA VTFREENTIA FRHLFLLGYS DGADDTFAAY TREQLYQAIF HAVDQYLALP DVSLGRYAYV RGGGDPWTNG SGLALCQRYY HRGHVDPAND TFDIDPMVVT DCIQVDPPER PPPPPSDDLT LLESSSSYKN LTLKFHKLVN VTIHFRLKTI NLQSLINNEI PDCYTFSVLI TFDNKAHSGR IPISLETQAH IQECKHPSVF QHGDNSFRLL FDVVVILTCS LSFLLCARSL LRGFLLQNEF VGFMWRQRGR VISLWERLEF VNGWYILLVT SDVLTISGTI MKIGIEAKNL ASYDVCSILL GTSTLLVWVG VIRYLTFFHN YNILIATLRV ALPSVMRFCC CVAVIYLGYC FCGWIVLGPY HVKFRSLSMV SECLFSLING DDMFVTFAAM QAQQGRSSLV WLFSQLYLYS FISLFIYMVL SLFIALITGA YDTIKHPGGA GAEESELQAY IAQCQDSPTS GKFRRGSGSA CSLLCCCGRD PSEEHSLLVN
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.