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

    Gene ID: 252972, updated on 27-Nov-2024

    Summary

    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 monoatomic 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 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, Nov 2024]
    Expression
    Ubiquitous expression in kidney adult (RPKM 55.6), colon adult (RPKM 48.2) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Tpcn1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 NAADP-sensitive calcium-release channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables NAADP-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    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 intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    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 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
     
    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
     
    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
     
    located_in endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    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 lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    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

    Preferred Names
    two pore calcium channel protein 1
    Names
    voltage-dependent calcium channel protein TPC1

    NCBI Reference Sequences (RefSeq)

    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_001418256.1NP_001405185.1  two pore calcium channel protein 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC125183
      UniProtKB/Swiss-Prot
      Q3V2Z6, Q6ZPW5, Q9EQJ0
    2. NM_001418258.1NP_001405187.1  two pore calcium channel protein 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC125183
    3. NM_001418259.1NP_001405188.1  two pore calcium channel protein 1 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC125183
    4. NM_001418260.1NP_001405189.1  two pore calcium channel protein 1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC125183
    5. NM_001418261.1NP_001405190.1  two pore calcium channel protein 1 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC125183
    6. NM_001418262.1NP_001405191.1  two pore calcium channel protein 1 isoform f

      Status: VALIDATED

      Source sequence(s)
      AC125183
    7. NM_145853.3NP_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:441691
      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_030254513.1XP_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:441691
      Ion_trans; Ion transport protein
    2. XM_030254514.1XP_030110374.1  two pore calcium channel protein 1 isoform X2

      UniProtKB/TrEMBL
      Q3UV38
      Conserved Domains (1) summary
      pfam00520
      Location:425675
      Ion_trans; Ion transport protein

    RNA

    1. XR_003955646.2 RNA Sequence

    2. XR_387566.5 RNA Sequence