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TPCN1 (two pore segment channel 1)

Identity

Alias (NCBI)TPC1
HGNC (Hugo) TPCN1
HGNC Alias symbKIAA1169
FLJ20612
TPC1
LocusID (NCBI) 53373
Atlas_Id 56106
Location 12q24.13  [Link to chromosome band 12q24]
Location_base_pair Starts at 113221464 and ends at 113298584 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)
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    two pore segment channel 1
AliasesTPC1
GeneCards (Weizmann)TPCN1
Ensembl hg19 (Hinxton)ENSG00000186815 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186815 [Gene_View]  ENSG00000186815 [Sequence]  chr12:113221464-113298584 [Contig_View]  TPCN1 [Vega]
ICGC DataPortalENSG00000186815
TCGA cBioPortalTPCN1
AceView (NCBI)TPCN1
Genatlas (Paris)TPCN1
SOURCE (Princeton)TPCN1
Genetics Home Reference (NIH)TPCN1
Genomic and cartography
GoldenPath hg38 (UCSC)TPCN1  -     chr12:113221464-113298584 +  12q24.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TPCN1  -     12q24.13   [Description]    (hg19-Feb_2009)
GoldenPathTPCN1 - 12q24.13 [CytoView hg19]  TPCN1 - 12q24.13 [CytoView hg38]
ImmunoBaseENSG00000186815
Genome Data Viewer NCBITPCN1 [Mapview hg19]  
OMIM609666   
Gene and transcription
Genbank (Entrez)AB032995 AK000619 AK025838 AK057414 AK075071
RefSeq transcript (Entrez)NM_001143819 NM_001301214 NM_001351346 NM_001351347 NM_017901
Consensus coding sequences : CCDS (NCBI)TPCN1
Gene ExpressionTPCN1 [ NCBI-GEO ]   TPCN1 [ EBI - ARRAY_EXPRESS ]   TPCN1 [ SEEK ]   TPCN1 [ MEM ]
Gene Expression Viewer (FireBrowse)TPCN1 [ Firebrowse - Broad ]
GenevisibleExpression of TPCN1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)53373
GTEX Portal (Tissue expression)TPCN1
Human Protein AtlasENSG00000186815-TPCN1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9ULQ1
Domains : Interpro (EBI)Ion_trans_dom    TPC1    Volt_channel_dom_sf   
Domain families : Pfam (Sanger)Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00520   
Conserved Domain (NCBI)TPCN1
SuperfamilyQ9ULQ1
AlphaFold pdb e-kbQ9ULQ1   
Human Protein Atlas [tissue]ENSG00000186815-TPCN1 [tissue]
HPRD18217
Protein Interaction databases
DIP (DOE-UCLA)Q9ULQ1
IntAct (EBI)Q9ULQ1
BioGRIDTPCN1
STRING (EMBL)TPCN1
ZODIACTPCN1
Ontologies - Pathways
QuickGOQ9ULQ1
Ontology : AmiGOvoltage-gated calcium channel activity  voltage-gated sodium channel activity  protein binding  lysosome  lysosomal membrane  lysosomal membrane  lysosomal membrane  endosome  endosome membrane  endosome membrane  positive regulation of autophagy  ligand-gated sodium channel activity  integral component of membrane  ion transmembrane transport  regulation of ion transmembrane transport  sodium ion transmembrane transport  identical protein binding  protein homodimerization activity  release of sequestered calcium ion into cytosol  NAADP-sensitive calcium-release channel activity  NAADP-sensitive calcium-release channel activity  phosphatidylinositol-3,5-bisphosphate binding  
Ontology : EGO-EBIvoltage-gated calcium channel activity  voltage-gated sodium channel activity  protein binding  lysosome  lysosomal membrane  lysosomal membrane  lysosomal membrane  endosome  endosome membrane  endosome membrane  positive regulation of autophagy  ligand-gated sodium channel activity  integral component of membrane  ion transmembrane transport  regulation of ion transmembrane transport  sodium ion transmembrane transport  identical protein binding  protein homodimerization activity  release of sequestered calcium ion into cytosol  NAADP-sensitive calcium-release channel activity  NAADP-sensitive calcium-release channel activity  phosphatidylinositol-3,5-bisphosphate binding  
NDEx NetworkTPCN1
Atlas of Cancer Signalling NetworkTPCN1
Wikipedia pathwaysTPCN1
Orthology - Evolution
OrthoDB53373
GeneTree (enSembl)ENSG00000186815
Phylogenetic Trees/Animal Genes : TreeFamTPCN1
Homologs : HomoloGeneTPCN1
Homology/Alignments : Family Browser (UCSC)TPCN1
Gene fusions - Rearrangements
Fusion : QuiverTPCN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTPCN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPCN1
dbVarTPCN1
ClinVarTPCN1
MonarchTPCN1
1000_GenomesTPCN1 
Exome Variant ServerTPCN1
GNOMAD BrowserENSG00000186815
Varsome BrowserTPCN1
ACMGTPCN1 variants
VarityQ9ULQ1
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]  
Somatic Mutations in Cancer : COSMIC3DTPCN1
Mutations and Diseases : HGMDTPCN1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTPCN1
DgiDB (Drug Gene Interaction Database)TPCN1
DoCM (Curated mutations)TPCN1
CIViC (Clinical Interpretations of Variants in Cancer)TPCN1
Cancer3DTPCN1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609666   
Orphanet
DisGeNETTPCN1
MedgenTPCN1
Genetic Testing Registry TPCN1
NextProtQ9ULQ1 [Medical]
GENETestsTPCN1
Target ValidationTPCN1
Huge Navigator TPCN1 [HugePedia]
ClinGenTPCN1
Clinical trials, drugs, therapy
MyCancerGenomeTPCN1
Protein Interactions : CTDTPCN1
Pharm GKB GenePA134922711
PharosQ9ULQ1
Clinical trialTPCN1
Miscellaneous
canSAR (ICR)TPCN1
HarmonizomeTPCN1
DataMed IndexTPCN1
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTPCN1
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 15:35:59 CEST 2021

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