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MCOLN1 (mucolipin 1)

Identity

Other namesMG-2
ML4
MLIV
MST080
MSTP080
TRP-ML1
TRPM-L1
TRPML1
HGNC (Hugo) MCOLN1
LocusID (NCBI) 57192
Atlas_Id 53390
Location 19p13.2
Location_base_pair Starts at 7587496 and ends at 7598895 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2015)
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
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
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 : Fast-db (Paris)GSHG0014522
Alternative Splicing GalleryENSG00000090674
Gene ExpressionMCOLN1 [ NCBI-GEO ]     MCOLN1 [ SEEK ]   MCOLN1 [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)57192
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9GZU1 (Uniprot)
NextProtQ9GZU1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9GZU1
Splice isoforms : SwissVarQ9GZU1 (Swissvar)
PhosPhoSitePlusQ9GZU1
Domains : Interpro (EBI)PKD1_2_channel   
Domain families : Pfam (Sanger)PKD_channel (PF08016)   
Domain families : Pfam (NCBI)pfam08016   
DMDM Disease mutations57192
Blocks (Seattle)MCOLN1
Human Protein AtlasENSG00000090674
Peptide AtlasQ9GZU1
HPRD05582
IPIIPI00452161   IPI00003750   
Protein Interaction databases
DIP (DOE-UCLA)Q9GZU1
IntAct (EBI)Q9GZU1
FunCoupENSG00000090674
BioGRIDMCOLN1
IntegromeDBMCOLN1
STRING (EMBL)MCOLN1
ZODIACMCOLN1
Ontologies - Pathways
QuickGOQ9GZU1
Ontology : AmiGOcation channel activity  cytoplasm  lysosomal membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cation transport  cellular iron ion homeostasis  endosome membrane  integral component of membrane  late endosome membrane  transferrin transport  ion transmembrane transport  receptor complex  release of sequestered calcium ion into cytosol  transmembrane transport  calcium ion transmembrane transport  NAADP-sensitive calcium-release channel activity  
Ontology : EGO-EBIcation channel activity  cytoplasm  lysosomal membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cation transport  cellular iron ion homeostasis  endosome membrane  integral component of membrane  late endosome membrane  transferrin transport  ion transmembrane transport  receptor complex  release of sequestered calcium ion into cytosol  transmembrane transport  calcium ion transmembrane transport  NAADP-sensitive calcium-release channel activity  
Pathways : KEGGLysosome   
Protein Interaction DatabaseMCOLN1
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: TCGAPCNT 21q22.3 MCOLN1 19p13.2 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerMCOLN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCOLN1
dbVarMCOLN1
ClinVarMCOLN1
1000_GenomesMCOLN1 
Exome Variant ServerMCOLN1
Exome Aggregation Consortium (ExAC)ENSG00000090674
SNP (GeneSNP Utah)MCOLN1
SNP : HGBaseMCOLN1
Genetic variants : HAPMAPMCOLN1
Genomic Variants (DGV)MCOLN1 [DGVbeta]
Mutations
ICGC Data PortalMCOLN1 
TCGA Data PortalMCOLN1 
Tumor PortalMCOLN1
TCGA Copy Number PortalMCOLN1
Somatic Mutations in Cancer : COSMICMCOLN1 
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)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:7587496-7598895
CONAN: Copy Number AnalysisMCOLN1 
Mutations and Diseases : HGMDMCOLN1
OMIM252650    605248   
MedgenMCOLN1
NextProtQ9GZU1 [Medical]
TSGene57192
GENETestsMCOLN1
Huge Navigator MCOLN1 [HugePedia]  MCOLN1 [HugeCancerGEM]
snp3D : Map Gene to Disease57192
BioCentury BCIQMCOLN1
General knowledge
Chemical/Protein Interactions : CTD57192
Chemical/Pharm GKB GenePA30699
Clinical trialMCOLN1
Other databases
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCOLN1
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 : Sat Jan 16 18:59:38 CET 2016

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