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MCOLN1 (mucolipin 1)

Identity

Other namesMG-2
ML4
MLIV
MST080
TRP-ML1
TRPM-L1
TRPML1
HGNC (Hugo) MCOLN1
LocusID (NCBI) 57192
Location 19p13.2
Location_base_pair Starts at 7587496 and ends at 7598895 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)MCOLN1   13356
Cards
Entrez_Gene (NCBI)MCOLN1  57192  mucolipin 1
GeneCards (Weizmann)MCOLN1
Ensembl (Hinxton)ENSG00000090674 [Gene_View]  chr19:7587496-7598895 [Contig_View]  MCOLN1 [Vega]
ICGC DataPortalENSG00000090674
cBioPortalMCOLN1
AceView (NCBI)MCOLN1
Genatlas (Paris)MCOLN1
WikiGenes57192
SOURCE (Princeton)NM_020533
Genomic and cartography
GoldenPath (UCSC)MCOLN1  -  19p13.2   chr19:7587496-7598895 +  19p13.2   [Description]    (hg19-Feb_2009)
EnsemblMCOLN1 - 19p13.2 [CytoView]
Mapping of homologs : NCBIMCOLN1 [Mapview]
OMIM252650   605248   
Gene and transcription
Genbank (Entrez)AA831948 AF171088 AF249319 AF287269 AJ293659
RefSeq transcript (Entrez)NM_020533
RefSeq genomic (Entrez)AC_000151 NC_000019 NC_018930 NG_015806 NT_011295 NW_001838480 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9GZU1 (Uniprot)
NextProtQ9GZU1  [Medical]
With graphics : InterProQ9GZU1
Splice isoforms : SwissVarQ9GZU1 (Swissvar)
Domains : Interpro (EBI)PKD1_2_channel [organisation]  
Related proteins : CluSTrQ9GZU1
Domain families : Pfam (Sanger)PKD_channel (PF08016)   
Domain families : Pfam (NCBI)pfam08016   
DMDM Disease mutations57192
Blocks (Seattle)Q9GZU1
Human Protein AtlasENSG00000090674 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9GZU1
HPRD05582
IPIIPI00452161   IPI00003750   
Protein Interaction databases
DIP (DOE-UCLA)Q9GZU1
IntAct (EBI)Q9GZU1
FunCoupENSG00000090674
BioGRIDMCOLN1
InParanoidQ9GZU1
Interologous Interaction database Q9GZU1
IntegromeDBMCOLN1
STRING (EMBL)MCOLN1
Ontologies - Pathways
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
Wikipedia pathwaysMCOLN1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MCOLN1
snp3D : Map Gene to Disease57192
SNP (GeneSNP Utah)MCOLN1
SNP : HGBaseMCOLN1
Genetic variants : HAPMAPMCOLN1
Exome VariantMCOLN1
1000_GenomesMCOLN1 
ICGC programENSG00000090674 
Somatic Mutations in Cancer : COSMICMCOLN1 
CONAN: Copy Number AnalysisMCOLN1 
Mutations and Diseases : HGMDMCOLN1
Genomic VariantsMCOLN1  MCOLN1 [DGVbeta]
dbVarMCOLN1
ClinVarMCOLN1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM252650    605248   
MedgenMCOLN1
GENETestsMCOLN1
Disease Genetic AssociationMCOLN1
Huge Navigator MCOLN1 [HugePedia]  MCOLN1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneMCOLN1
Homology/Alignments : Family Browser (UCSC)MCOLN1
Phylogenetic Trees/Animal Genes : TreeFamMCOLN1
Chemical/Protein Interactions : CTD57192
Chemical/Pharm GKB GenePA30699
Clinical trialMCOLN1
Cancer Resource (Charite)ENSG00000090674
Other databases
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
CoreMineMCOLN1
iHOPMCOLN1
OncoSearchMCOLN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:04:37 CEST 2014

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