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MCOLN1 (mucolipin 1)

Identity

Alias_symbol (synonym)TRPML1
ML4
MLIV
MST080
MSTP080
TRPM-L1
HGNC (Hugo) MCOLN1
LocusID (NCBI) 57192
Atlas_Id 53390
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 7587496 and ends at 7598895 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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  57192  mucolipin 1
AliasesMG-2; ML4; MLIV; MST080; 
MSTP080; TRP-ML1; TRPM-L1; TRPML1
GeneCards (Weizmann)MCOLN1
Ensembl hg19 (Hinxton)ENSG00000090674 [Gene_View]  chr19:7587496-7598895 [Contig_View]  MCOLN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000090674 [Gene_View]  chr19:7587496-7598895 [Contig_View]  MCOLN1 [Vega]
ICGC DataPortalENSG00000090674
TCGA cBioPortalMCOLN1
AceView (NCBI)MCOLN1
Genatlas (Paris)MCOLN1
WikiGenes57192
SOURCE (Princeton)MCOLN1
Genetics Home Reference (NIH)MCOLN1
Genomic and cartography
GoldenPath hg19 (UCSC)MCOLN1  -     chr19:7587496-7598895 +  19p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MCOLN1  -     19p13.2   [Description]    (hg38-Dec_2013)
EnsemblMCOLN1 - 19p13.2 [CytoView hg19]  MCOLN1 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIMCOLN1 [Mapview hg19]  MCOLN1 [Mapview hg38]
OMIM252650   605248   
Gene and transcription
Genbank (Entrez)AA831948 AF171088 AF249319 AF287269 AJ293659
RefSeq transcript (Entrez)NM_020533
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_015806 NT_011295 NW_004929413
Consensus coding sequences : CCDS (NCBI)MCOLN1
Cluster EST : UnigeneHs.631858 [ NCBI ]
CGAP (NCI)Hs.631858
Alternative Splicing GalleryENSG00000090674
Gene ExpressionMCOLN1 [ NCBI-GEO ]   MCOLN1 [ EBI - ARRAY_EXPRESS ]   MCOLN1 [ SEEK ]   MCOLN1 [ MEM ]
Gene Expression Viewer (FireBrowse)MCOLN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57192
GTEX Portal (Tissue expression)MCOLN1
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
Splice isoforms : SwissVarQ9GZU1
PhosPhoSitePlusQ9GZU1
Domains : Interpro (EBI)PKD1_2_channel   
Domain families : Pfam (Sanger)PKD_channel (PF08016)   
Domain families : Pfam (NCBI)pfam08016   
Conserved Domain (NCBI)MCOLN1
DMDM Disease mutations57192
Blocks (Seattle)MCOLN1
SuperfamilyQ9GZU1
Human Protein AtlasENSG00000090674
Peptide AtlasQ9GZU1
HPRD05582
IPIIPI00452161   IPI00003750   
Protein Interaction databases
DIP (DOE-UCLA)Q9GZU1
IntAct (EBI)Q9GZU1
FunCoupENSG00000090674
BioGRIDMCOLN1
STRING (EMBL)MCOLN1
ZODIACMCOLN1
Ontologies - Pathways
QuickGOQ9GZU1
Ontology : AmiGOcation channel activity  calcium channel activity  iron ion transmembrane transporter activity  cytoplasm  lysosomal membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cation transport  endosome membrane  integral component of membrane  late endosome membrane  transferrin transport  iron ion transmembrane transport  receptor complex  release of sequestered calcium ion into cytosol  calcium ion transmembrane transport  NAADP-sensitive calcium-release channel activity  
Ontology : EGO-EBIcation channel activity  calcium channel activity  iron ion transmembrane transporter activity  cytoplasm  lysosomal membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cation transport  endosome membrane  integral component of membrane  late endosome membrane  transferrin transport  iron ion transmembrane transport  receptor complex  release of sequestered calcium ion into cytosol  calcium ion transmembrane transport  NAADP-sensitive calcium-release channel activity  
Pathways : KEGGLysosome   
NDEx NetworkMCOLN1
Atlas of Cancer Signalling NetworkMCOLN1
Wikipedia pathwaysMCOLN1
Orthology - Evolution
OrthoDB57192
GeneTree (enSembl)ENSG00000090674
Phylogenetic Trees/Animal Genes : TreeFamMCOLN1
HOVERGENQ9GZU1
HOGENOMQ9GZU1
Homologs : HomoloGeneMCOLN1
Homology/Alignments : Family Browser (UCSC)MCOLN1
Gene fusions - Rearrangements
Fusion : MitelmanPCNT/MCOLN1 [21q22.3/19p13.2]  [t(19;21)(p13;q22)]  
Fusion: TCGAPCNT 21q22.3 MCOLN1 19p13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCOLN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCOLN1
dbVarMCOLN1
ClinVarMCOLN1
1000_GenomesMCOLN1 
Exome Variant ServerMCOLN1
ExAC (Exome Aggregation Consortium)MCOLN1 (select the gene name)
Genetic variants : HAPMAP57192
Genomic Variants (DGV)MCOLN1 [DGVbeta]
DECIPHER (Syndromes)19:7587496-7598895  ENSG00000090674
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]  
Mutations and Diseases : HGMDMCOLN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MCOLN1
DgiDB (Drug Gene Interaction Database)MCOLN1
DoCM (Curated mutations)MCOLN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCOLN1 (select a term)
intoGenMCOLN1
Cancer3DMCOLN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252650    605248   
Orphanet29   
MedgenMCOLN1
Genetic Testing Registry MCOLN1
NextProtQ9GZU1 [Medical]
TSGene57192
GENETestsMCOLN1
Huge Navigator MCOLN1 [HugePedia]
snp3D : Map Gene to Disease57192
BioCentury BCIQMCOLN1
ClinGenMCOLN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57192
Chemical/Pharm GKB GenePA30699
Clinical trialMCOLN1
Miscellaneous
canSAR (ICR)MCOLN1 (select the gene name)
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCOLN1
EVEXMCOLN1
GoPubMedMCOLN1
iHOPMCOLN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:43:10 CET 2016

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