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1.A.5.3.1
The lysosomal monovalent cation/Ca2+ channel, TRP-ML1 (Mucolipin-1) (associated with the human lipid storage disorder, mucolipidosis type IV (MLIV)) (Kiselyov et al., 2005; Luzio et al., 2007). TRPML1 is an endolysosomal iron release channel (Dong et al., 2008).  Interacts with TMEM163, a CDF heavy metal transporter (TC# 2.A.4.8.3).  Together these proteins function in Zn2+ homeostasis, possibly by exporting Zn2+ (Cuajungco et al. 2014).  The MLIV disease could result from Zn2+ overload.  Probably involved in Zn2+ uptake into lysosomes (Cuajungco and Kiselyov 2017).

Accession Number:Q9GZU1
Protein Name:Mucolipin-1 aka Mucolipidin aka MG-2
Length:580
Molecular Weight:65022.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:7
Location1 / Topology2 / Orientation3: Cell membrane1 / Multi-pass membrane protein2
Substrate Ca2+

Cross database links:

Genevestigator: Q9GZU1
HEGENOM: HBG444433
RefSeq: NP_065394.1   
Entrez Gene ID: 57192   
Pfam: PF08016   
OMIM: 252650  phenotype
605248  gene
KEGG: hsa:57192   

Gene Ontology

GO:0005887 C:integral to plasma membrane
GO:0031902 C:late endosome membrane
GO:0005765 C:lysosomal membrane
GO:0005261 F:cation channel activity
GO:0006816 P:calcium ion transport

References (13)

[1] “Cloning of the gene encoding a novel integral membrane protein, mucolipidin, and identification of the two major founder mutations causing mucolipidosis type IV.”  Bassi M.T.et.al.   11013137
[2] “Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.”  Sun M.et.al.   11030752
[3] “Identification of the gene causing mucolipidosis type IV.”  Bargal R.et.al.   10973263
[4] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[5] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[6] “Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway.”  LaPlante J.M.et.al.   12459486
[7] “Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.”  Manzoni M.et.al.   15178326
[8] “Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.”  Raychowdhury M.K.et.al.   14749347
[9] “Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.”  Chen R.et.al.   19159218
[10] “Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.”  Bargal R.et.al.   11317355
[11] “The neurogenetics of mucolipidosis type IV.”  Altarescu G.et.al.   12182165
[12] “Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.”  Goldin E.et.al.   15523648
[13] “The consensus coding sequences of human breast and colorectal cancers.”  Sjoeblom T.et.al.   16959974

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MTAPAGPRGS ETERLLTPNP GYGTQAGPSP APPTPPEEED LRRRLKYFFM SPCDKFRAKG 
61:	RKPCKLMLQV VKILVVTVQL ILFGLSNQLA VTFREENTIA FRHLFLLGYS DGADDTFAAY 
121:	TREQLYQAIF HAVDQYLALP DVSLGRYAYV RGGGDPWTNG SGLALCQRYY HRGHVDPAND 
181:	TFDIDPMVVT DCIQVDPPER PPPPPSDDLT LLESSSSYKN LTLKFHKLVN VTIHFRLKTI 
241:	NLQSLINNEI PDCYTFSVLI TFDNKAHSGR IPISLETQAH IQECKHPSVF QHGDNSFRLL 
301:	FDVVVILTCS LSFLLCARSL LRGFLLQNEF VGFMWRQRGR VISLWERLEF VNGWYILLVT 
361:	SDVLTISGTI MKIGIEAKNL ASYDVCSILL GTSTLLVWVG VIRYLTFFHN YNILIATLRV 
421:	ALPSVMRFCC CVAVIYLGYC FCGWIVLGPY HVKFRSLSMV SECLFSLING DDMFVTFAAM 
481:	QAQQGRSSLV WLFSQLYLYS FISLFIYMVL SLFIALITGA YDTIKHPGGA GAEESELQAY 
541:	IAQCQDSPTS GKFRRGSGSA CSLLCCCGRD PSEEHSLLVN