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MCOLN1 (mucolipin TRP cation channel 1)

Identity

Alias (NCBI)MG-2
ML1
ML4
MLIV
MST080
MSTP080
TRP-ML1
TRPM-L1
TRPML1
HGNC (Hugo) MCOLN1
HGNC Alias symbTRPML1
ML4
MLIV
MST080
MSTP080
TRPM-L1
HGNC Alias namemucolipidosis type IV
 transient receptor potential cation channel mucolipin subfamily member 1
 transient receptor potential mucolipin 1
HGNC Previous namemucolipin 1
LocusID (NCBI) 57192
Atlas_Id 53390
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 7522624 and ends at 7534009 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PCNT (21q22.3) / MCOLN1 (19p13.2)USP6NL (10p14) / MCOLN1 (19p13.2)PCNT 21q22.3 / MCOLN1 19p13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)MCOLN1   13356
Cards
Entrez_Gene (NCBI)MCOLN1    mucolipin TRP cation channel 1
AliasesMG-2; ML1; ML4; MLIV; 
MST080; MSTP080; TRP-ML1; TRPM-L1; TRPML1
GeneCards (Weizmann)MCOLN1
Ensembl hg19 (Hinxton)ENSG00000090674 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000090674 [Gene_View]  ENSG00000090674 [Sequence]  chr19:7522624-7534009 [Contig_View]  MCOLN1 [Vega]
ICGC DataPortalENSG00000090674
TCGA cBioPortalMCOLN1
AceView (NCBI)MCOLN1
Genatlas (Paris)MCOLN1
SOURCE (Princeton)MCOLN1
Genetics Home Reference (NIH)MCOLN1
Genomic and cartography
GoldenPath hg38 (UCSC)MCOLN1  -     chr19:7522624-7534009 +  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MCOLN1  -     19p13.2   [Description]    (hg19-Feb_2009)
GoldenPathMCOLN1 - 19p13.2 [CytoView hg19]  MCOLN1 - 19p13.2 [CytoView hg38]
ImmunoBaseENSG00000090674
Genome Data Viewer NCBIMCOLN1 [Mapview hg19]  
OMIM252650   605248   
Gene and transcription
Genbank (Entrez)AA831948 AF171088 AF249319 AF287269 AJ293659
RefSeq transcript (Entrez)NM_020533
Consensus coding sequences : CCDS (NCBI)MCOLN1
Gene ExpressionMCOLN1 [ NCBI-GEO ]   MCOLN1 [ EBI - ARRAY_EXPRESS ]   MCOLN1 [ SEEK ]   MCOLN1 [ MEM ]
Gene Expression Viewer (FireBrowse)MCOLN1 [ Firebrowse - Broad ]
GenevisibleExpression of MCOLN1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57192
GTEX Portal (Tissue expression)MCOLN1
Human Protein AtlasENSG00000090674-MCOLN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9GZU1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9GZU1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9GZU1
PhosPhoSitePlusQ9GZU1
Domains : Interpro (EBI)Mucolipin    PKD1_2_channel   
Domain families : Pfam (Sanger)PKD_channel (PF08016)   
Domain families : Pfam (NCBI)pfam08016   
Conserved Domain (NCBI)MCOLN1
PDB (RSDB)5TJA    5TJB    5TJC    5WJ5    5WJ9    6E7P    6E7Y    6E7Z   
PDB Europe5TJA    5TJB    5TJC    5WJ5    5WJ9    6E7P    6E7Y    6E7Z   
PDB (PDBSum)5TJA    5TJB    5TJC    5WJ5    5WJ9    6E7P    6E7Y    6E7Z   
PDB (IMB)5TJA    5TJB    5TJC    5WJ5    5WJ9    6E7P    6E7Y    6E7Z   
Structural Biology KnowledgeBase5TJA    5TJB    5TJC    5WJ5    5WJ9    6E7P    6E7Y    6E7Z   
SCOP (Structural Classification of Proteins)5TJA    5TJB    5TJC    5WJ5    5WJ9    6E7P    6E7Y    6E7Z   
CATH (Classification of proteins structures)5TJA    5TJB    5TJC    5WJ5    5WJ9    6E7P    6E7Y    6E7Z   
SuperfamilyQ9GZU1
AlphaFold pdb e-kbQ9GZU1   
Human Protein Atlas [tissue]ENSG00000090674-MCOLN1 [tissue]
HPRD05582
Protein Interaction databases
DIP (DOE-UCLA)Q9GZU1
IntAct (EBI)Q9GZU1
BioGRIDMCOLN1
STRING (EMBL)MCOLN1
ZODIACMCOLN1
Ontologies - Pathways
QuickGOQ9GZU1
Ontology : AmiGOphagocytic cup  adaptive immune response  cation channel activity  protein binding  nucleoplasm  lysosome  lysosomal membrane  lysosomal membrane  late endosome  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  cation transport  lipid binding  endosome membrane  membrane  integral component of membrane  integral component of membrane  calcium-mediated signaling  phagocytic vesicle membrane  late endosome membrane  transferrin transport  cell projection  intracellular membrane-bounded organelle  receptor complex  release of sequestered calcium ion into cytosol  protein homotetramerization  calcium ion transmembrane transport  calcium ion transmembrane transport  cellular response to calcium ion  cellular response to pH  NAADP-sensitive calcium-release channel activity  phagosome maturation  autophagosome maturation  intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity  ligand-gated calcium channel activity  
Ontology : EGO-EBIphagocytic cup  adaptive immune response  cation channel activity  protein binding  nucleoplasm  lysosome  lysosomal membrane  lysosomal membrane  late endosome  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  cation transport  lipid binding  endosome membrane  membrane  integral component of membrane  integral component of membrane  calcium-mediated signaling  phagocytic vesicle membrane  late endosome membrane  transferrin transport  cell projection  intracellular membrane-bounded organelle  receptor complex  release of sequestered calcium ion into cytosol  protein homotetramerization  calcium ion transmembrane transport  calcium ion transmembrane transport  cellular response to calcium ion  cellular response to pH  NAADP-sensitive calcium-release channel activity  phagosome maturation  autophagosome maturation  intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity  ligand-gated calcium channel activity  
Pathways : KEGGLysosome   
NDEx NetworkMCOLN1
Atlas of Cancer Signalling NetworkMCOLN1
Wikipedia pathwaysMCOLN1
Orthology - Evolution
OrthoDB57192
GeneTree (enSembl)ENSG00000090674
Phylogenetic Trees/Animal Genes : TreeFamMCOLN1
Homologs : HomoloGeneMCOLN1
Homology/Alignments : Family Browser (UCSC)MCOLN1
Gene fusions - Rearrangements
Fusion : MitelmanPCNT/MCOLN1 [21q22.3/19p13.2]  
Fusion : QuiverMCOLN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCOLN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCOLN1
dbVarMCOLN1
ClinVarMCOLN1
MonarchMCOLN1
1000_GenomesMCOLN1 
Exome Variant ServerMCOLN1
GNOMAD BrowserENSG00000090674
Varsome BrowserMCOLN1
ACMGMCOLN1 variants
VarityQ9GZU1
Genomic Variants (DGV)MCOLN1 [DGVbeta]
DECIPHERMCOLN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMCOLN1 
Mutations
ICGC Data PortalMCOLN1 
TCGA Data PortalMCOLN1 
Broad Tumor PortalMCOLN1
OASIS PortalMCOLN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCOLN1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMCOLN1
Mutations and Diseases : HGMDMCOLN1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMCOLN1
DgiDB (Drug Gene Interaction Database)MCOLN1
DoCM (Curated mutations)MCOLN1
CIViC (Clinical Interpretations of Variants in Cancer)MCOLN1
Cancer3DMCOLN1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252650    605248   
Orphanet29   
DisGeNETMCOLN1
MedgenMCOLN1
Genetic Testing Registry MCOLN1
NextProtQ9GZU1 [Medical]
GENETestsMCOLN1
Target ValidationMCOLN1
Huge Navigator MCOLN1 [HugePedia]
ClinGenMCOLN1
Clinical trials, drugs, therapy
MyCancerGenomeMCOLN1
Protein Interactions : CTDMCOLN1
Pharm GKB GenePA30699
PharosQ9GZU1
Clinical trialMCOLN1
Miscellaneous
canSAR (ICR)MCOLN1
HarmonizomeMCOLN1
DataMed IndexMCOLN1
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMCOLN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:18:06 CEST 2021

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