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TPCN1 (two pore segment channel 1)

Identity

Alias_symbol (synonym)KIAA1169
FLJ20612
TPC1
Other alias
HGNC (Hugo) TPCN1
LocusID (NCBI) 53373
Atlas_Id 56106
Location 12q24.13  [Link to chromosome band 12q24]
Location_base_pair Starts at 113221438 and ends at 113298584 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KCTD10 (12q24.11) / TPCN1 (12q24.13)PITHD1 (1p36.11) / TPCN1 (12q24.13)TPCN1 (12q24.13) / YARS2 (12p11.21)

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)TPCN1   18182
Cards
Entrez_Gene (NCBI)TPCN1  53373  two pore segment channel 1
AliasesTPC1
GeneCards (Weizmann)TPCN1
Ensembl hg19 (Hinxton)ENSG00000186815 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186815 [Gene_View]  chr12:113221438-113298584 [Contig_View]  TPCN1 [Vega]
ICGC DataPortalENSG00000186815
TCGA cBioPortalTPCN1
AceView (NCBI)TPCN1
Genatlas (Paris)TPCN1
WikiGenes53373
SOURCE (Princeton)TPCN1
Genetics Home Reference (NIH)TPCN1
Genomic and cartography
GoldenPath hg38 (UCSC)TPCN1  -     chr12:113221438-113298584 +  12q24.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TPCN1  -     12q24.13   [Description]    (hg19-Feb_2009)
EnsemblTPCN1 - 12q24.13 [CytoView hg19]  TPCN1 - 12q24.13 [CytoView hg38]
Mapping of homologs : NCBITPCN1 [Mapview hg19]  TPCN1 [Mapview hg38]
OMIM609666   
Gene and transcription
Genbank (Entrez)AB032995 AK000619 AK025838 AK057414 AK075071
RefSeq transcript (Entrez)NM_001143819 NM_001301214 NM_017901
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TPCN1
Cluster EST : UnigeneHs.524763 [ NCBI ]
CGAP (NCI)Hs.524763
Alternative Splicing GalleryENSG00000186815
Gene ExpressionTPCN1 [ NCBI-GEO ]   TPCN1 [ EBI - ARRAY_EXPRESS ]   TPCN1 [ SEEK ]   TPCN1 [ MEM ]
Gene Expression Viewer (FireBrowse)TPCN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)53373
GTEX Portal (Tissue expression)TPCN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULQ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULQ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULQ1
Splice isoforms : SwissVarQ9ULQ1
PhosPhoSitePlusQ9ULQ1
Domains : Interpro (EBI)Channel_four-helix_dom    Ion_trans_dom    TPC1   
Domain families : Pfam (Sanger)Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00520   
Conserved Domain (NCBI)TPCN1
DMDM Disease mutations53373
Blocks (Seattle)TPCN1
SuperfamilyQ9ULQ1
Human Protein AtlasENSG00000186815
Peptide AtlasQ9ULQ1
HPRD18217
IPIIPI00795880   IPI00164366   IPI00385917   IPI01015452   IPI00386050   IPI01020787   IPI01024757   IPI01021074   IPI01021537   IPI01021376   IPI01021787   IPI01022349   IPI01022870   IPI01023012   IPI01020742   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULQ1
IntAct (EBI)Q9ULQ1
FunCoupENSG00000186815
BioGRIDTPCN1
STRING (EMBL)TPCN1
ZODIACTPCN1
Ontologies - Pathways
QuickGOQ9ULQ1
Ontology : AmiGOvoltage-gated calcium channel activity  protein binding  lysosome  lysosomal membrane  lysosomal membrane  endosome  plasma membrane  endosome membrane  positive regulation of autophagy  integral component of membrane  ion transmembrane transport  regulation of ion transmembrane transport  identical protein binding  release of sequestered calcium ion into cytosol  NAADP-sensitive calcium-release channel activity  NAADP-sensitive calcium-release channel activity  membrane depolarization during action potential  
Ontology : EGO-EBIvoltage-gated calcium channel activity  protein binding  lysosome  lysosomal membrane  lysosomal membrane  endosome  plasma membrane  endosome membrane  positive regulation of autophagy  integral component of membrane  ion transmembrane transport  regulation of ion transmembrane transport  identical protein binding  release of sequestered calcium ion into cytosol  NAADP-sensitive calcium-release channel activity  NAADP-sensitive calcium-release channel activity  membrane depolarization during action potential  
NDEx NetworkTPCN1
Atlas of Cancer Signalling NetworkTPCN1
Wikipedia pathwaysTPCN1
Orthology - Evolution
OrthoDB53373
GeneTree (enSembl)ENSG00000186815
Phylogenetic Trees/Animal Genes : TreeFamTPCN1
HOVERGENQ9ULQ1
HOGENOMQ9ULQ1
Homologs : HomoloGeneTPCN1
Homology/Alignments : Family Browser (UCSC)TPCN1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTPCN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPCN1
dbVarTPCN1
ClinVarTPCN1
1000_GenomesTPCN1 
Exome Variant ServerTPCN1
ExAC (Exome Aggregation Consortium)TPCN1 (select the gene name)
Genetic variants : HAPMAP53373
Genomic Variants (DGV)TPCN1 [DGVbeta]
DECIPHERTPCN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTPCN1 
Mutations
ICGC Data PortalTPCN1 
TCGA Data PortalTPCN1 
Broad Tumor PortalTPCN1
OASIS PortalTPCN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTPCN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTPCN1
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 TPCN1
DgiDB (Drug Gene Interaction Database)TPCN1
DoCM (Curated mutations)TPCN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TPCN1 (select a term)
intoGenTPCN1
Cancer3DTPCN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609666   
Orphanet
MedgenTPCN1
Genetic Testing Registry TPCN1
NextProtQ9ULQ1 [Medical]
TSGene53373
GENETestsTPCN1
Target ValidationTPCN1
Huge Navigator TPCN1 [HugePedia]
snp3D : Map Gene to Disease53373
BioCentury BCIQTPCN1
ClinGenTPCN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD53373
Chemical/Pharm GKB GenePA134922711
Clinical trialTPCN1
Miscellaneous
canSAR (ICR)TPCN1 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTPCN1
EVEXTPCN1
GoPubMedTPCN1
iHOPTPCN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 13:00:25 CEST 2017

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