Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



TPCN1 Gene

protein-coding   GIFtS: 54
GCID: GC12P113660

Two Pore Segment Channel 1

  Search for TPCN1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Two Pore Segment Channel 11 2     Two Pore Calcium Channel Protein 12
TPC12 3 5     Two-Pore Channel 12
Voltage-Dependent Calcium Channel Protein TPC12 3     Two-Pore Segment Channel 12
KIAA11693 5     

External Ids:    HGNC: 181821   Entrez Gene: 533732   Ensembl: ENSG000001868157   OMIM: 6096665   UniProtKB: Q9ULQ13   

Export aliases for TPCN1 gene to outside databases

Previous GC identifers: GC12P113441 GC12P112071 GC12P112121 GC12P110671


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for TPCN1 Gene:
Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to
S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000
(PubMed 10753632)).(supplied by OMIM, Mar 2008)

GeneCards Summary for TPCN1 Gene:
TPCN1 (two pore segment channel 1) is a protein-coding gene. GO annotations related to this gene include NAADP-sensitive calcium-release channel activity and identical protein binding. An important paralog of this gene is TPCN2.

UniProtKB/Swiss-Prot: TPC1_HUMAN, Q9ULQ1
Function: Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major
voltage-gated Ca(2+) channels (VDCC) across the lysosomal and endosomal membrane

Gene Wiki entry for TPCN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TPCN1 gene promoter:
         NF-YB   CBF-B   CBF-A   NF-YA   ARP-1   CP1C   CP1A   LUN-1   NF-Y   CBF-C   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTPCN1 promoter sequence
   Search Chromatin IP Primers for TPCN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TPCN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.13   Ensembl cytogenetic band:  12q24.13   HGNC cytogenetic band: 12q24.21

TPCN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPCN1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P113660:  view genomic region     (about GC identifiers)

Start:
113,658,855 bp from pter      End:
113,736,390 bp from pter
Size:
77,536 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: TPC1_HUMAN, Q9ULQ1 (See protein sequence)
Recommended Name: Two pore calcium channel protein 1  
Size: 816 amino acids; 94147 Da
Subunit: Dimer (Potential)
Sequence caution: Sequence=AK057414; Type=Frameshift; Positions=273; Sequence=BAA86483.2; Type=Erroneous
initiation; Note=Translation N-terminally shortened;
Secondary accessions: A7E258 Q86XS9 Q8NC20
Alternative splicing: 3 isoforms:  Q9ULQ1-1   Q9ULQ1-2   Q9ULQ1-3   

Explore the universe of human proteins at neXtProt for TPCN1: NX_Q9ULQ1

Explore proteomics data for TPCN1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn599, Asn611, Asn616
  • Modification sites at PhosphoSitePlus

  • See TPCN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001137291.1  NP_060371.2  

    ENSEMBL proteins: 
     ENSP00000447806   ENSP00000449560   ENSP00000447569   ENSP00000447073   ENSP00000447263  
     ENSP00000447181   ENSP00000335300   ENSP00000449944   ENSP00000448083   ENSP00000448704  
     ENSP00000376350   ENSP00000446767   ENSP00000448561   ENSP00000449564   ENSP00000448010  
     ENSP00000438125  
    Reactome Protein details: Q9ULQ1

    TPCN1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for TPCN1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for TPCN1
    GenScript Custom Purified and Recombinant Proteins Services for TPCN1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TPCN1

     
    Search eBioscience for Proteins for TPCN1 

    TPCN1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for TPCN1
    Novus Biologicals TPCN1 Antibodies
    Abcam antibodies for TPCN1
    Cloud-Clone Corp. Antibodies for TPCN1
    Search ThermoFisher Antibodies for TPCN1
    LSBio Antibodies in human, mouse, rat for TPCN1

    TPCN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TPCN1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TPCN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TPCN1
    Cloud-Clone Corp. CLIAs for TPCN1
    Search eBioscience for ELISAs for TPCN1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    TPCN: Voltage-gated ion channels / Two-pore channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: TPC1
    CatSper and Two-Pore channels

    3 InterPro protein domains:
     IPR027359 Channel_four-helix_dom
     IPR005821 Ion_trans_dom
     IPR028801 TPC1_metazoa

    Graphical View of Domain Structure for InterPro Entry Q9ULQ1

    ProtoNet protein and cluster: Q9ULQ1

    UniProtKB/Swiss-Prot: TPC1_HUMAN, Q9ULQ1
    Domain: Each of the two internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and
    one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are
    characterized by a series of positively charged amino acids at every third position (By similarity)
    Similarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel
    subfamily


    Find genes that share domains with TPCN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPC1_HUMAN, Q9ULQ1
    Function: Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major
    voltage-gated Ca(2+) channels (VDCC) across the lysosomal and endosomal membrane

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005244voltage-gated ion channel activity IEA--
    GO:0005515protein binding IPI--
    GO:0042802identical protein binding IPI--
    GO:0072345NAADP-sensitive calcium-release channel activity IDA19620632
         
    Find genes that share ontologies with TPCN1           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tpcn1):
     hematopoietic system  immune system  no phenotypic analysis  normal 

    Find genes that share phenotypes with TPCN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tpcn1tm1.1Dren for TPCN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TPCN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TPCN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TPCN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TPCN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TPCN1:
    hsa-mir-23b-3p (MIRT046365), hsa-mir-335-5p (MIRT018931)

    Block miRNA regulation of human, mouse, rat TPCN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TPCN1 (see all 36):
    hsa-miR-140-5p hsa-miR-3152-3p hsa-miR-429 hsa-miR-3678-5p hsa-miR-25 hsa-miR-219-5p hsa-miR-218 hsa-miR-508-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TPCN1
    Predesigned siRNA for gene silencing in human, mouse, rat TPCN1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TPCN1

    Clone
    Products:
         
    OriGene clones in human, mouse for TPCN1 (see all 13)
    OriGene ORF clones in mouse, rat for TPCN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TPCN1 (NM_017901)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TPCN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPCN1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TPCN1
    Browse ESI BIO Cell Lines and PureStem Progenitors for TPCN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPCN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    TPC1_HUMAN, Q9ULQ1: Lysosome membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane
    protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    vacuole5
    plasma membrane3
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane TAS--
    GO:0010008endosome membrane IDA19620632
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with TPCN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for TPCN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47


    Find genes that share SuperPaths with TPCN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for TPCN1
        Stimuli-sensing channels


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TPCN1
    Interactions:

        Search GeneGlobe Interaction Network for TPCN1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for TPCN1 (Q9ULQ11 ENSP000003763504) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TPCN2Q8NHX91, ENSP000002943094EBI-5239895,EBI-5239949 STRING: ENSP00000294309
    HAX1O001651EBI-5239895,EBI-357001
    TPCN1Q9ULQ11EBI-5239895,EBI-5239895
    MPPE1ENSP000003112004STRING: ENSP00000311200
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--

    Find genes that share ontologies with TPCN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TPCN1 (TPC1)

    1 HMDB Compound for TPCN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for TPCN1 gene (2 alternative transcripts): 
    NM_001143819.1  NM_017901.4  

    Unigene Cluster for TPCN1:

    Two pore segment channel 1
    Hs.524763  [show with all ESTs]
    Unigene Representative Sequence: NM_001143819
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000552642 ENST00000547275 ENST00000552985 ENST00000550873 ENST00000551096
    ENST00000551099 ENST00000335509(uc001tuw.3 uc010syu.2) ENST00000552897
    ENST00000550785(uc001tux.3) ENST00000549279 ENST00000552077 ENST00000392569
    ENST00000552542 ENST00000428632(uc010syt.1) ENST00000548465 ENST00000546781
    ENST00000551127 ENST00000546503
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TPCN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TPCN1 (see all 36):
    hsa-miR-140-5p hsa-miR-3152-3p hsa-miR-429 hsa-miR-3678-5p hsa-miR-25 hsa-miR-219-5p hsa-miR-218 hsa-miR-508-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TPCN1
    Predesigned siRNA for gene silencing in human, mouse, rat TPCN1
    Clone
    Products:
         
    OriGene clones in human, mouse for TPCN1 (see all 13)
    OriGene ORF clones in mouse, rat for TPCN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TPCN1 (NM_017901)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TPCN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPCN1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TPCN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TPCN1
      QuantiTect SYBR Green Assays in human, mouse, rat TPCN1
      QuantiFast Probe-based Assays in human, mouse, rat TPCN1

    Additional mRNA sequence: 

    AB032995.2 AK000619.1 AK025838.1 AK057414.1 AK093490.1 AK295022.1 AK296268.1 AY083666.1 
    BC007419.2 BC068001.1 BC069234.1 BC110885.1 BC136795.1 BC136796.1 BC150203.1 BC152423.1 

    16 DOTS entries:

    DT.95283828  DT.216244  DT.100816008  DT.95215830  DT.91920798  DT.121170051  DT.92003407  DT.92439571 
    DT.121169983  DT.40311973  DT.92439573  DT.95100794  DT.95303166  DT.101960618  DT.40259869  DT.99949916 

    Selected AceView cDNA sequences (see all 335):

    BM683958 AI223360 BQ681979 AK057414 AI285279 BX283980 AW589639 BF590010 
    BM827150 BC069234 BG756072 AI198038 H18210 BF434781 AI631823 AW243558 
    BQ049221 AI302315 AW513042 AW245666 AI916230 BE559995 BU687277 AW505119 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TPCN1 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^
    SP1:                                                                                                                                            -               
    SP2:        -     -     -                 -                                                                                                                     
    SP3:                          -           -                                                                                                                     
    SP4:                                      -                                                                                                                     
    SP5:                    -     -                                                                                                                                 

    ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
    SP1:        -                       -         
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for TPCN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    TPCN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGACAATCA
    TPCN1 Expression
    About this image

    TPCN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TPCN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524763

    UniProtKB/Swiss-Prot: TPC1_HUMAN, Q9ULQ1
    Tissue specificity: Highest expression found in the heart and kidney, and lowest expression found in the spleen

        Custom PCR Arrays for TPCN1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TPCN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TPCN1
    QuantiTect SYBR Green Assays in human, mouse, rat TPCN1
    QuantiFast Probe-based Assays in human, mouse, rat TPCN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPCN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for TPCN1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tpcn11 , 5 two pore channel 11, 5 86.68(n)1
    90.93(a)1
      5 (60.63 cM)5
    2529721  NM_145853.21  NP_665852.11 
     1205341605 
    chicken
    (Gallus gallus)
    Aves TPCN11 two pore segment channel 1 75.1(n)
    81.82(a)
      417033  XM_004934490.1  XP_004934547.1 
    lizard
    (Anolis carolinensis)
    Reptilia TPCN16
    two pore segment channel 1
    79(a)
    1 ↔ 1
    GL343338.1(823523-843752)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tpcn11 two pore segment channel 1 66.83(n)
    72.65(a)
      100497529  XM_002934287.2  XP_002934333.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tpcn11 two pore segment channel 1 69.03(n)
    73.26(a)
      567534  XM_005165220.1  XP_005165277.1 


    ENSEMBL Gene Tree for TPCN1 (if available)
    TreeFam Gene Tree for TPCN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for TPCN1 gene
    TPCN22  
    15 SIMAP similar genes for TPCN1 using alignment to 14 protein entries:     TPC1_HUMAN (see all proteins):
    SCN9A    SCN4A    SCN5A    CACNA1H    SCN11A    SCN8A
    SCN3A    CACNA1F    SCN1A    SCN2A    SCN2A2    SCN7A
    CACNA1B    CACNA1E    CACNA1A

    Find genes that share paralogs with TPCN1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for TPCN1 (see all 1488)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1438650641,2
    Cuntested1113705738(+) TCATCC/TGGCAC 4 R W mis10--------
    rs1163995061,2
    C,F--113660892(+) CTCTTC/TTGCCT 2 -- int11Minor allele frequency- T:0.14WA 118
    rs1826060411,2
    --113660970(+) CACAGG/TAAGTG 2 -- int10--------
    rs619435801,2
    C--113660993(+) AGCTAC/TGGGCT 2 -- int13Minor allele frequency- T:0.09NA EA 242
    rs1876625351,2
    --113661028(+) CTTTCG/TCTGCC 2 -- int10--------
    rs764019931,2
    C--113661146(+) AGTTGG/AGAGGC 2 -- int12Minor allele frequency- A:0.04WA 120
    rs731928111,2
    C--113661258(+) TTTTTG/TGTTCT 2 -- int10--------
    rs1916579311,2
    --113661388(+) CTGTCA/GCCCAG 2 -- int10--------
    rs1843010341,2
    --113661471(+) AGGCTC/TCCCAG 2 -- int10--------
    rs38901451,2
    C,F--113661629(+) caggcC/Atgagc 2 -- int13Minor allele frequency- A:0.50WA CSA 6

    HapMap Linkage Disequilibrium report for TPCN1 (113658855 - 113736390 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for TPCN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2226471CNV Deletion18987734
    esv2746378CNV Deletion23290073
    nsv899527CNV Loss21882294
    nsv899528CNV Loss21882294
    esv6807CNV Loss19470904
    nsv899530CNV Gain21882294
    nsv519540CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TPCN1
    DNA2.0 Custom Variant and Variant Library Synthesis for TPCN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 609666    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for TPCN1:
    Thyroid cancer

    Find genes that share disorders with TPCN1           About GenesLikeMe


    Export disorders for TPCN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for TPCN1 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with TPCN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2, 3 Hirosawa M.... Ohara O. (DNA Res. 1999)
    2. Essential requirement for two-pore channel 1 in NAADP-mediated calcium signaling. (PubMed id 19620632)1, 2, 9 Brailoiu E.... Patel S. (J. Cell Biol. 2009)
    3. NAADP mobilizes calcium from acidic organelles through two-pore channels. (PubMed id 19387438)1, 2 Calcraft P.J.... Zhu M.X. (Nature 2009)
    4. International Union of Pharmacology. L. Nomenclature and structure-function relationships of CatSper and two-pore channels. (PubMed id 16382101)1, 3 Clapham D.E. and Garbers D.L. (Pharmacol. Rev. 2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    7. Molecular cloning of a novel form (two-repeat) protein related to voltage-gated sodium and calcium channels. (PubMed id 10753632)1, 3 Ishibashi K....Imai M. (Biochem. Biophys. Res. Commun. 2000)
    8. Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network. (PubMed id 23149075)1 Aslibekyan S....Arnett D.K. (Nutr Metab Cardiovasc Dis 2013)
    9. Regulation of a proteinaceous elicitor-induced Ca2+ influx and production of phytoalexins by a putative voltage-gated cation channel, OsTPC1, in cultured rice cells. (PubMed id 22270358)1 Hamada H....Kuchitsu K. (J. Biol. Chem. 2012)
    10. Membrane potential regulates nicotinic acid adenine dinucleotide phosphate (NAADP) dependence of the pH- and Ca2+-sensitive organellar two-pore channel TPC1. (PubMed id 22500018)1 Rybalchenko V....Muallem S. (J. Biol. Chem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 53373 HGNC: 18182 AceView: TPCN1 Ensembl:ENSG00000186815 euGenes: HUgn53373
    ECgene: TPCN1 H-InvDB: TPCN1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1169

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for TPCN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for TPCN1 gene:
    Search GeneIP for patents involving TPCN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for TPCN1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for TPCN1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for TPCN1  
     OriGene qSTAR qPCR primer pairs in human, mouse for TPCN1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for TPCN1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TPCN1   OriGene Custom Protein Services for TPCN1  

     
     
     Block miRNA regulation of human, mouse, rat TPCN1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TPCN1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TPCN1 Predesigned siRNA for gene silencing in human, mouse, rat TPCN1
     QuantiFast Probe-based Assays in human, mouse, rat TPCN1 QuantiTect SYBR Green Assays in human, mouse, rat TPCN1
     Custom PCR Arrays for TPCN1 Search Chromatin IP Primers for TPCN1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TPCN1  Search GeneGlobe Interaction Network for TPCN1
     Regulatory tfbs in TPCN1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for TPCN1 GenScript cDNA clones with any tag delivered in your preferred vector for TPCN1
     GenScript Custom Assay Services for TPCN1 GenScript Custom overexpressing Cell Line Services for TPCN1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for TPCN1 (TPC1)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     TPCN1 antibodies
     Antibodies for TPCN1
     See all of Abcam's Antibodies, Kits and Proteins for TPCN1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for TPCN1
     Antibodies for TPCN1
     ELISAs for TPCN1
     CLIAs for TPCN1



     Browse ESI BIO Cell Lines and PureStem Progenitors for TPCN1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPCN1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for TPCN1
     SwitchGear Promoter luciferase reporter plasmids for TPCN1
     Search ThermoFisher Antibodies for TPCN1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPCN1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TPCN1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TPCN1
     LSBio Antibodies in human, mouse, rat for TPCN1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for TPCN1
      Search eBioscience for proteins for TPCN1
      Search eBioscience for elisas for TPCN1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TPCN1 gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4