U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Tpcn1 two pore channel 1 [ Mus musculus (house mouse) ]

Gene ID: 252972, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Tpcn1provided by MGI
Official Full Name
two pore channel 1provided by MGI
Primary source
MGI:MGI:2182472
See related
Ensembl:ENSMUSG00000032741 AllianceGenome:MGI:2182472
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Tpc1; mKIAA1169; 5730403B01Rik
Summary
Enables several functions, including cation channel activity; phosphatidylinositol-3,5-bisphosphate binding activity; and protein homodimerization activity. Involved in endocytosis involved in viral entry into host cell and sodium ion transmembrane transport. Located in early endosome membrane; endolysosome; and recycling endosome membrane. Is integral component of membrane. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and immune system. Orthologous to human TPCN1 (two pore segment channel 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney adult (RPKM 55.6), colon adult (RPKM 48.2) and 28 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
5 F; 5 60.63 cM
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (120672222..120726731, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (120534157..120588678, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene serine dehydratase Neighboring gene phospholipase B domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E2173 Neighboring gene solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 Neighboring gene STARR-seq mESC enhancer starr_14239 Neighboring gene STARR-positive B cell enhancer ABC_E57 Neighboring gene IQ motif containing D Neighboring gene STARR-positive B cell enhancers ABC_E2760 and ABC_E2174 Neighboring gene STARR-positive B cell enhancer ABC_E3610 Neighboring gene RBPJ interacting and tubulin associated 1 Neighboring gene DEAD box helicase 54 Neighboring gene cilia and flagella associated protein 73

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Two-pore channel protein TPC1 is a determining factor for the adaptation of proximal tubular phosphate handling. Just A, et al. Acta Physiol (Oxf), 2023 Mar. PMID 36599408
  2. Genetic Inactivation of Two-Pore Channel 1 Impairs Spatial Learning and Memory. Mallmann RT, et al. Behav Genet, 2020 Nov. PMID 32889694, Free PMC Article
  3. Inhibition of NAADP signalling on reperfusion protects the heart by preventing lethal calcium oscillations via two-pore channel 1 and opening of the mitochondrial permeability transition pore. Davidson SM, et al. Cardiovasc Res, 2015 Dec 1. PMID 26395965, Free PMC Article
  4. NAADP and the two-pore channel protein 1 participate in the acrosome reaction in mammalian spermatozoa. Arndt L, et al. Mol Biol Cell, 2014 Mar. PMID 24451262, Free PMC Article
  5. Hippocampal mGluR1-dependent long-term potentiation requires NAADP-mediated acidic store Ca(2+) signaling. Foster WJ, et al. Sci Signal, 2018 Nov 27. PMID 30482851, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Two-pore channel protein TPC1 is a determining factor for the adaptation of proximal tubular phosphate handling.
    Title: Two-pore channel protein TPC1 is a determining factor for the adaptation of proximal tubular phosphate handling.
  2. Genetic Inactivation of Two-Pore Channel 1 Impairs Spatial Learning and Memory.
    Title: Genetic Inactivation of Two-Pore Channel 1 Impairs Spatial Learning and Memory.
  3. TPC1 directly interacts with syntaxins and regulates protein processing through early and recycling endosomes.
    Title: The two-pore channel TPC1 is required for efficient protein processing through early and recycling endosomes.
  4. electron cryo-microscopy structures of mouse TPC1 (MmTPC1)-a voltage-dependent, phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)-activated Na(+)-selective channel-in both the apo closed state and ligand-bound open state
    Title: Structural insights into the voltage and phospholipid activation of the mammalian TPC1 channel.
  5. TPC1 and TPC2 were found to be essential for appropriate basal and induced autophagic flux in cardiomyocytes.
    Title: Endolysosomal two-pore channels regulate autophagy in cardiomyocytes.
  6. The results confirmed the altered expression of HFABP, a key fatty acid transport protein, and of enolase and PGK1, the key enzymes in the glycolytic process
    Title: Metabolic alterations derived from absence of Two-Pore Channel 1 at cardiac level.
  7. Mice lacking the endo-lysosomal TPC1 were protected from myocardial ischemia reperfusion injury.
    Title: Inhibition of NAADP signalling on reperfusion protects the heart by preventing lethal calcium oscillations via two-pore channel 1 and opening of the mitochondrial permeability transition pore.
  8. Genetic ablation of endolysosomal TPC1 or TPC2 channels attenuates glucose- and sulfonylurea-induced membrane currents, depolarization, cytoplasmic Ca2+ signals, and insulin secretion in pancreatic beta cells.
    Title: Nicotinic Acid Adenine Dinucleotide Phosphate (NAADP) and Endolysosomal Two-pore Channels Modulate Membrane Excitability and Stimulus-Secretion Coupling in Mouse Pancreatic β Cells.
  9. It was concluded that Tpcn1/2(-/-) mice show mature-onset obesity due to reduced lipid availability and use, and a defect in beta-adrenergic receptor signaling, leading to impaired thermogenic activity, in brown adipose tissue.
    Title: Absence of intracellular ion channels TPC1 and TPC2 leads to mature-onset obesity in male mice, due to impaired lipid availability for thermogenesis in brown adipose tissue.
  10. Results report the existence of a novel, alternative variant isoform of Tpcn1, termed Tpcn1B, resulting from an alternative promoter and giving rise to a TPC1B protein with an N-terminal truncation relative to the sequence of the TPC1A.
    Title: TPC1 has two variant isoforms, and their removal has different effects on endo-lysosomal functions compared to loss of TPC2.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (2) 
  • Targeted (5)  1 citation
  • Endonuclease-mediated (2) 

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
NOT enables NAADP-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium channel activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity ISO
Inferred from Sequence Orthology
more info
  
enables ligand-gated sodium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ligand-gated sodium channel activity ISO
Inferred from Sequence Orthology
more info
  
enables monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables syntaxin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated channel activity IEA
Inferred from Electronic Annotation
more info
  
enables voltage-gated sodium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables voltage-gated sodium channel activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within calcium ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in endocytosis involved in viral entry into host cell IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endocytosis involved in viral entry into host cell ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of autophagy ISO
Inferred from Sequence Orthology
more info
  
involved_in sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in early endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endolysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endolysosome ISO
Inferred from Sequence Orthology
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endosome membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of monoatomic ion channel complex IEA
Inferred from Electronic Annotation
more info
  
located_in recycling endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
two pore calcium channel protein 1
Names
voltage-dependent calcium channel protein TPC1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001418256.1 → NP_001405185.1  two pore calcium channel protein 1 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC125183
    UniProtKB/Swiss-Prot
    Q3V2Z6, Q6ZPW5, Q9EQJ0

  2. NM_001418258.1 → NP_001405187.1  two pore calcium channel protein 1 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC125183

  3. NM_001418259.1 → NP_001405188.1  two pore calcium channel protein 1 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC125183

  4. NM_001418260.1 → NP_001405189.1  two pore calcium channel protein 1 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC125183

  5. NM_001418261.1 → NP_001405190.1  two pore calcium channel protein 1 isoform e

    Status: VALIDATED

    Source sequence(s)
    AC125183

  6. NM_001418262.1 → NP_001405191.1  two pore calcium channel protein 1 isoform f

    Status: VALIDATED

    Source sequence(s)
    AC125183

  7. NM_145853.3 → NP_665852.1  two pore calcium channel protein 1 isoform a

    See identical proteins and their annotated locations for NP_665852.1

    Status: VALIDATED

    Source sequence(s)
    AC125183
    Consensus CDS
    CCDS39239.1
    UniProtKB/Swiss-Prot
    Q3V2Z6, Q6ZPW5, Q9EQJ0
    UniProtKB/TrEMBL
    Q3UV38
    Related
    ENSMUSP00000042188.9, ENSMUST00000046426.10
    Conserved Domains (1) summary
    pfam00520
    Location:441 → 691
    Ion_trans; Ion transport protein

RNA

  1. NR_184702.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC125183

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    120672222..120726731 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030254513.1 → XP_030110373.1  two pore calcium channel protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q3V2Z6, Q6ZPW5, Q9EQJ0
    UniProtKB/TrEMBL
    Q3UV38
    Conserved Domains (1) summary
    pfam00520
    Location:441 → 691
    Ion_trans; Ion transport protein

  2. XM_030254514.1 → XP_030110374.1  two pore calcium channel protein 1 isoform X2

    UniProtKB/TrEMBL
    Q3UV38
    Conserved Domains (1) summary
    pfam00520
    Location:425 → 675
    Ion_trans; Ion transport protein

RNA

  1. XR_003955646.2 RNA Sequence

  2. XR_387566.5 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9EQJ0.1 GenPept UniProtKB/Swiss-Prot:Q9EQJ0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous